| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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| Intellectual disability syndromic and non-syndromic v0.453 | MTMR2 | Chirag Patel Classified gene: MTMR2 as Red List (low evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.453 | MTMR2 | Chirag Patel Gene: mtmr2 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.452 | MTMR2 |
Chirag Patel Source Genetic Health Queensland was removed from MTMR2. Source Expert list was added to MTMR2. Mode of inheritance for gene MTMR2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: MTMR2 were changed from to Charcot-Marie-Tooth disease, type 4B1; OMIM #601382 |
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| Intellectual disability syndromic and non-syndromic v0.451 | MTMR2 | Chirag Patel reviewed gene: MTMR2: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Charcot-Marie-Tooth disease, type 4B1, OMIM #601382; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.451 | IFT140 | Zornitza Stark Marked gene: IFT140 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.451 | IFT140 | Zornitza Stark Gene: ift140 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.451 | IFT140 | Zornitza Stark Phenotypes for gene: IFT140 were changed from to Short-rib thoracic dysplasia 9 with or without polydactyly, MIM#266920 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.450 | IFT140 | Zornitza Stark Classified gene: IFT140 as Red List (low evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.450 | IFT140 | Zornitza Stark Gene: ift140 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.449 | IFT140 | Zornitza Stark reviewed gene: IFT140: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Short-rib thoracic dysplasia 9 with or without polydactyly, MIM#266920; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.449 | MSH6 |
Chirag Patel Source Genetic Health Queensland was removed from MSH6. Source Expert list was added to MSH6. Mode of inheritance for gene MSH6 was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Phenotypes for gene: MSH6 were changed from to Colorectal cancer, hereditary nonpolyposis, type 5, OMIM #614350; Mismatch repair cancer syndrome, OMIM #276300 |
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| Intellectual disability syndromic and non-syndromic v0.448 | MSH6 | Chirag Patel Classified gene: MSH6 as Red List (low evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.448 | MSH6 | Chirag Patel Gene: msh6 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.447 | MSH6 | Chirag Patel reviewed gene: MSH6: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Colorectal cancer, hereditary nonpolyposis, type 5, OMIM #614350, Mismatch repair cancer syndrome, OMIM #276300; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.447 | MTM1 | Chirag Patel Classified gene: MTM1 as Red List (low evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.447 | MTM1 | Chirag Patel Gene: mtm1 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.446 | MTM1 |
Chirag Patel Source Genetic Health Queensland was removed from MTM1. Source Expert list was added to MTM1. Mode of inheritance for gene MTM1 was changed from Unknown to X-LINKED: hemizygous mutation in males, biallelic mutations in females Phenotypes for gene: MTM1 were changed from to Myotubular myopathy, X-linked; OMIM#310400 |
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| Intellectual disability syndromic and non-syndromic v0.445 | MTM1 | Chirag Patel reviewed gene: MTM1: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Myotubular myopathy, X-linked, OMIM#310400; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.445 | MRPS16 | Chirag Patel Classified gene: MRPS16 as Red List (low evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.445 | MRPS16 | Chirag Patel Gene: mrps16 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.445 | MRPS16 | Chirag Patel Classified gene: MRPS16 as Red List (low evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.445 | MRPS16 | Chirag Patel Gene: mrps16 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.444 | MRPS16 |
Chirag Patel Source Genetic Health Queensland was removed from MRPS16. Source Expert list was added to MRPS16. Mode of inheritance for gene MRPS16 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: MRPS16 were changed from to Combined oxidative phosphorylation deficiency 2; OMIM #610498 Publications for gene MRPS16 were changed from PubMed: 15505824 to PubMed: 15505824 |
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| Intellectual disability syndromic and non-syndromic v0.443 | MRPS16 | Chirag Patel reviewed gene: MRPS16: Rating: RED; Mode of pathogenicity: None; Publications: PubMed: 15505824; Phenotypes: Combined oxidative phosphorylation deficiency 2, OMIM #610498; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.443 | MRPL3 | Chirag Patel Classified gene: MRPL3 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.443 | MRPL3 | Chirag Patel Gene: mrpl3 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.442 | MRPL3 |
Chirag Patel Source Genetic Health Queensland was removed from MRPL3. Source Expert list was added to MRPL3. Mode of inheritance for gene MRPL3 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: MRPL3 were changed from to Combined oxidative phosphorylation deficiency 9; OMIM #614582 Publications for gene MRPL3 were changed from PubMed: 27815843; 21786366 to PubMed: 27815843; 21786366 |
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| Intellectual disability syndromic and non-syndromic v0.441 | MRPL3 | Chirag Patel reviewed gene: MRPL3: Rating: AMBER; Mode of pathogenicity: None; Publications: PubMed: 27815843, 21786366; Phenotypes: Combined oxidative phosphorylation deficiency 9, OMIM #614582; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.441 | MRAP | Chirag Patel Classified gene: MRAP as Red List (low evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.441 | MRAP | Chirag Patel Gene: mrap has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.440 | MRAP |
Chirag Patel Source Genetic Health Queensland was removed from MRAP. Source Expert list was added to MRAP. Mode of inheritance for gene MRAP was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: MRAP were changed from to Glucocorticoid deficiency 2; OMIM #607398 |
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| Intellectual disability syndromic and non-syndromic v0.439 | MRAP | Chirag Patel reviewed gene: MRAP: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Glucocorticoid deficiency 2, OMIM #607398; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.439 | MPV17 |
Chirag Patel Source Genetic Health Queensland was removed from MPV17. Source Expert list was added to MPV17. Mode of inheritance for gene MPV17 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: MPV17 were changed from to Charcot-Marie-Tooth disease, axonal, type 2EE, OMIM #618400; Mitochondrial DNA depletion syndrome 6 (hepatocerebral type), OMIM #256810 Publications for gene MPV17 were changed from PMID: 22593919 to PMID: 22593919 |
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| Intellectual disability syndromic and non-syndromic v0.438 | MPV17 | Chirag Patel reviewed gene: MPV17: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 22593919; Phenotypes: Charcot-Marie-Tooth disease, axonal, type 2EE, OMIM #618400, Mitochondrial DNA depletion syndrome 6 (hepatocerebral type), OMIM #256810; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.438 | IBA57 | Zornitza Stark Marked gene: IBA57 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.438 | IBA57 | Zornitza Stark Gene: iba57 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.438 | IBA57 | Zornitza Stark Phenotypes for gene: IBA57 were changed from to Multiple mitochondrial dysfunctions syndrome 3, MIM#615330 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.437 | IBA57 | Zornitza Stark Mode of inheritance for gene: IBA57 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.436 | IBA57 | Zornitza Stark reviewed gene: IBA57: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Multiple mitochondrial dysfunctions syndrome 3, MIM#615330; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.436 | MPZ | Chirag Patel Classified gene: MPZ as Red List (low evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.436 | MPZ | Chirag Patel Gene: mpz has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.435 | MPZ |
Chirag Patel Source Genetic Health Queensland was removed from MPZ. Source Expert list was added to MPZ. Mode of inheritance for gene MPZ was changed from Unknown to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal Phenotypes for gene: MPZ were changed from to Various CMT types |
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| Intellectual disability syndromic and non-syndromic v0.434 | MPZ | Chirag Patel reviewed gene: MPZ: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Various CMT types; Mode of inheritance: BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.434 | MPDZ | Chirag Patel Publications for gene MPDZ were changed from PubMed: 28556411; 23240096 to PubMed: 28556411; 23240096 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.433 | MPDZ |
Chirag Patel Source Genetic Health Queensland was removed from MPDZ. Source Expert list was added to MPDZ. Mode of inheritance for gene MPDZ was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: MPDZ were changed from to Hydrocephalus, congenital, 2, with or without brain or eye anomalies; OMIM #615219 |
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| Intellectual disability syndromic and non-syndromic v0.432 | MPDZ | Chirag Patel reviewed gene: MPDZ: Rating: GREEN; Mode of pathogenicity: None; Publications: PubMed: 28556411, 23240096; Phenotypes: Hydrocephalus, congenital, 2, with or without brain or eye anomalies, OMIM #615219; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.432 | MNX1 | Chirag Patel Classified gene: MNX1 as Red List (low evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.432 | MNX1 | Chirag Patel Gene: mnx1 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.431 | MNX1 |
Chirag Patel Source Genetic Health Queensland was removed from MNX1. Source Expert list was added to MNX1. Mode of inheritance for gene MNX1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: MNX1 were changed from to Currarino syndrome; OMIM #176450 |
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| Intellectual disability syndromic and non-syndromic v0.430 | MNX1 | Chirag Patel reviewed gene: MNX1: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Currarino syndrome, OMIM #176450; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.430 | MLH1 | Chirag Patel Classified gene: MLH1 as Red List (low evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.430 | MLH1 | Chirag Patel Gene: mlh1 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.429 | MLH1 |
Chirag Patel Source Genetic Health Queensland was removed from MLH1. Source Expert list was added to MLH1. Mode of inheritance for gene MLH1 was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Phenotypes for gene: MLH1 were changed from to Mismatch repair cancer syndrome, OMIM #276300; Muir-Torre syndrome, OMIM #158320 |
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| Intellectual disability syndromic and non-syndromic v0.428 | MLH1 | Chirag Patel reviewed gene: MLH1: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Mismatch repair cancer syndrome, OMIM #276300, Muir-Torre syndrome, OMIM #158320; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.428 | MIR17HG |
Chirag Patel Source Genetic Health Queensland was removed from MIR17HG. Source Expert list was added to MIR17HG. Mode of inheritance for gene MIR17HG was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: MIR17HG were changed from to Feingold syndrome 2; OMIM #614326 Publications for gene MIR17HG were changed from PMID: 25391829; 21892160 to PMID: 25391829; 21892160 |
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| Intellectual disability syndromic and non-syndromic v0.427 | MIR17HG | Chirag Patel reviewed gene: MIR17HG: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 25391829, 21892160; Phenotypes: Feingold syndrome 2, OMIM #614326; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.427 | MID2 | Chirag Patel Classified gene: MID2 as Red List (low evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.427 | MID2 | Chirag Patel Gene: mid2 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.426 | MID2 |
Chirag Patel Source Genetic Health Queensland was removed from MID2. Source Expert list was added to MID2. Mode of inheritance for gene MID2 was changed from Unknown to X-LINKED: hemizygous mutation in males, biallelic mutations in females Phenotypes for gene: MID2 were changed from to ?Mental retardation, X-linked 101; OMIM#300928 Publications for gene MID2 were changed from PubMed: 24115387 to PubMed: 24115387 |
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| Intellectual disability syndromic and non-syndromic v0.425 | MID2 | Chirag Patel reviewed gene: MID2: Rating: RED; Mode of pathogenicity: None; Publications: PubMed: 24115387; Phenotypes: ?Mental retardation, X-linked 101, OMIM#300928; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.425 | MGP | Chirag Patel Classified gene: MGP as Red List (low evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.425 | MGP | Chirag Patel Gene: mgp has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.424 | MGP |
Chirag Patel Source Genetic Health Queensland was removed from MGP. Source Expert list was added to MGP. Mode of inheritance for gene MGP was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: MGP were changed from to Keutel syndrome; OMIM #245150 |
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| Intellectual disability syndromic and non-syndromic v0.423 | MGP | Chirag Patel reviewed gene: MGP: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Keutel syndrome, OMIM #245150; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.423 | MGME1 | Chirag Patel Classified gene: MGME1 as Red List (low evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.423 | MGME1 | Chirag Patel Gene: mgme1 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.422 | MGME1 |
Chirag Patel Source Genetic Health Queensland was removed from MGME1. Source Expert list was added to MGME1. Mode of inheritance for gene MGME1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: MGME1 were changed from to Mitochondrial DNA depletion syndrome 11; OMIM#615084 Publications for gene MGME1 were changed from PubMed: 23313956 to PubMed: 23313956 |
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| Intellectual disability syndromic and non-syndromic v0.421 | MGME1 | Chirag Patel reviewed gene: MGME1: Rating: RED; Mode of pathogenicity: None; Publications: PubMed: 23313956; Phenotypes: Mitochondrial DNA depletion syndrome 11, OMIM#615084; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.421 | MFN2 | Chirag Patel Classified gene: MFN2 as Red List (low evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.421 | MFN2 | Chirag Patel Gene: mfn2 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.420 | MFN2 |
Chirag Patel Source Genetic Health Queensland was removed from MFN2. Source Expert list was added to MFN2. Mode of inheritance for gene MFN2 was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Phenotypes for gene: MFN2 were changed from to Charcot-Marie-Tooth disease, axonal, type 2A2A, OMIM #609260; Charcot-Marie-Tooth disease, axonal, type 2A2B, OMIM #617087; Hereditary motor and sensory neuropathy VIA, OMIM #601152 |
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| Intellectual disability syndromic and non-syndromic v0.419 | MFN2 | Chirag Patel reviewed gene: MFN2: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Charcot-Marie-Tooth disease, axonal, type 2A2A, OMIM #609260, Charcot-Marie-Tooth disease, axonal, type 2A2B, OMIM #617087, Hereditary motor and sensory neuropathy VIA, OMIM #601152; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.419 | METTL23 |
Chirag Patel Source Genetic Health Queensland was removed from METTL23. Source Expert list was added to METTL23. Mode of inheritance for gene METTL23 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: METTL23 were changed from to Mental retardation, autosomal recessive 44; OMIM#615942 Publications for gene METTL23 were changed from PubMed: 24501276; 24626631 to PubMed: 24501276; 24626631 |
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| Intellectual disability syndromic and non-syndromic v0.418 | METTL23 | Chirag Patel reviewed gene: METTL23: Rating: GREEN; Mode of pathogenicity: None; Publications: PubMed: 24501276, 24626631; Phenotypes: Mental retardation, autosomal recessive 44, OMIM#615942; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.418 | MET | Chirag Patel Classified gene: MET as Red List (low evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.418 | MET | Chirag Patel Gene: met has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.417 | MET |
Chirag Patel Source Genetic Health Queensland was removed from MET. Source Expert list was added to MET. Mode of inheritance for gene MET was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Phenotypes for gene: MET were changed from to ?Deafness, autosomal recessive 97, OMIM #616705; {Osteofibrous dysplasia, susceptibility to}, OMIM #607278 |
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| Intellectual disability syndromic and non-syndromic v0.416 | MET | Chirag Patel reviewed gene: MET: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ?Deafness, autosomal recessive 97, OMIM #616705, {Osteofibrous dysplasia, susceptibility to}, OMIM #607278; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.416 | MEGF8 |
Chirag Patel Source Genetic Health Queensland was removed from MEGF8. Source Expert list was added to MEGF8. Mode of inheritance for gene MEGF8 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: MEGF8 were changed from to Carpenter syndrome 2; OMIM #614976 |
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| Intellectual disability syndromic and non-syndromic v0.415 | MEGF8 | Chirag Patel reviewed gene: MEGF8: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 3993675; Phenotypes: Carpenter syndrome 2, OMIM #614976; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.415 | MCM4 | Chirag Patel Classified gene: MCM4 as Red List (low evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.415 | MCM4 | Chirag Patel Gene: mcm4 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.414 | MCM4 |
Chirag Patel Source Genetic Health Queensland was removed from MCM4. Source Expert list was added to MCM4. Mode of inheritance for gene MCM4 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: MCM4 were changed from to Immunodeficiency 54; OMIM #609981 |
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| Intellectual disability syndromic and non-syndromic v0.413 | MCM4 | Chirag Patel reviewed gene: MCM4: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Immunodeficiency 54, OMIM #609981; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.413 | MARS2 | Chirag Patel Classified gene: MARS2 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.413 | MARS2 | Chirag Patel Gene: mars2 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.412 | MARS2 |
Chirag Patel Source Genetic Health Queensland was removed from MARS2. Source Expert list was added to MARS2. Mode of inheritance for gene MARS2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: MARS2 were changed from to ?Combined oxidative phosphorylation deficiency 25, OMIM #616430; Spastic ataxia 3, autosomal recessive, OMIM #611390 Publications for gene MARS2 were changed from PMID: 25754315 to PMID: 25754315 |
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| Intellectual disability syndromic and non-syndromic v0.411 | MARS2 | Chirag Patel reviewed gene: MARS2: Rating: AMBER; Mode of pathogenicity: None; Publications: PubMed: 25754315; Phenotypes: ?Combined oxidative phosphorylation deficiency 25, OMIM #616430, Spastic ataxia 3, autosomal recessive, OMIM #611390; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.411 | HYLS1 | Zornitza Stark Marked gene: HYLS1 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.411 | HYLS1 | Zornitza Stark Gene: hyls1 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.411 | HYLS1 | Zornitza Stark Phenotypes for gene: HYLS1 were changed from to Hydrolethalus syndrome, MIM#236680 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.410 | HYLS1 | Zornitza Stark Mode of inheritance for gene: HYLS1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.409 | HYLS1 | Zornitza Stark Classified gene: HYLS1 as Red List (low evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.409 | HYLS1 | Zornitza Stark Gene: hyls1 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.408 | HYLS1 | Zornitza Stark reviewed gene: HYLS1: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Hydrolethalus syndrome, MIM#236680; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.408 | HSPG2 | Zornitza Stark Marked gene: HSPG2 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.408 | HSPG2 | Zornitza Stark Gene: hspg2 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.408 | HSPG2 | Zornitza Stark Phenotypes for gene: HSPG2 were changed from to Schwartz-Jampel syndrome, type 1, MIM#255800 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.407 | HSPG2 | Zornitza Stark Mode of inheritance for gene: HSPG2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.406 | HSPG2 | Zornitza Stark reviewed gene: HSPG2: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Schwartz-Jampel syndrome, type 1, MIM#255800; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.406 | MAGT1 | Chirag Patel Classified gene: MAGT1 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.406 | MAGT1 | Chirag Patel Gene: magt1 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.405 | MAGT1 |
Chirag Patel Source Genetic Health Queensland was removed from MAGT1. Source Expert list was added to MAGT1. Mode of inheritance for gene MAGT1 was changed from Unknown to X-LINKED: hemizygous mutation in males, biallelic mutations in females Phenotypes for gene: MAGT1 were changed from to Congenital disorder of glycosylation, type Icc, OMIM #301031; Immunodeficiency, X-linked, with magnesium defect, Epstein-Barr virus infection and neoplasia, OMIM #300853 Publications for gene MAGT1 were changed from PMID: 31036665 to PMID: 31036665 |
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| Intellectual disability syndromic and non-syndromic v0.404 | MAGT1 | Chirag Patel reviewed gene: MAGT1: Rating: AMBER; Mode of pathogenicity: None; Publications: PubMed: 31036665; Phenotypes: Congenital disorder of glycosylation, type Icc, OMIM #301031, Immunodeficiency, X-linked, with magnesium defect, Epstein-Barr virus infection and neoplasia, OMIM #300853; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.404 | HOXD10 | Zornitza Stark Marked gene: HOXD10 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.404 | HOXD10 | Zornitza Stark Gene: hoxd10 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.404 | HOXD10 | Zornitza Stark Phenotypes for gene: HOXD10 were changed from to Vertical talus, congenital, MIM#192950 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.403 | HOXD10 | Zornitza Stark Mode of inheritance for gene: HOXD10 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.402 | HOXD10 | Zornitza Stark Classified gene: HOXD10 as Red List (low evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.402 | HOXD10 | Zornitza Stark Gene: hoxd10 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.401 | HOXD10 | Zornitza Stark reviewed gene: HOXD10: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Vertical talus, congenital, MIM#192950; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.401 | ORC4 | Chirag Patel Classified gene: ORC4 as Red List (low evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.401 | ORC4 | Chirag Patel Gene: orc4 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.400 | ORC4 |
Chirag Patel Source Genetic Health Queensland was removed from ORC4. Source Expert list was added to ORC4. Mode of inheritance for gene ORC4 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: ORC4 were changed from to Meier-Gorlin syndrome 2; OMIM #613800 |
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| Intellectual disability syndromic and non-syndromic v0.399 | ORC4 | Chirag Patel reviewed gene: ORC4: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Meier-Gorlin syndrome 2, OMIM #613800; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.399 | ORC6 | Chirag Patel Classified gene: ORC6 as Red List (low evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.399 | ORC6 | Chirag Patel Gene: orc6 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.398 | ORC6 |
Chirag Patel Source Genetic Health Queensland was removed from ORC6. Source Expert list was added to ORC6. Mode of inheritance for gene ORC6 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: ORC6 were changed from to Meier-Gorlin syndrome 3; OMIM #613803 |
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| Intellectual disability syndromic and non-syndromic v0.397 | ORC6 | Chirag Patel reviewed gene: ORC6: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Meier-Gorlin syndrome 3, OMIM #613803; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.397 | HNMT | Zornitza Stark Marked gene: HNMT as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.397 | HNMT | Zornitza Stark Gene: hnmt has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.397 | HNMT | Zornitza Stark Phenotypes for gene: HNMT were changed from to Mental retardation, autosomal recessive 51, MIM#616739 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.396 | HNMT | Zornitza Stark Publications for gene: HNMT were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.395 | HNMT | Zornitza Stark Mode of inheritance for gene: HNMT was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.394 | HNMT | Zornitza Stark reviewed gene: HNMT: Rating: GREEN; Mode of pathogenicity: None; Publications: 26206890, 30744146; Phenotypes: Mental retardation, autosomal recessive 51, MIM#616739; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.394 | VPS37A |
Chirag Patel changed review comment from: ID reported in this type of HSP in 2 families. Zivony-Elboum et al. (2012) reported 9 patients from 2 Arab Moslem families with early-onset spastic paraplegia. Affected individuals showed developmental and motor delay during the first 2 years of life. They had unsteadiness in standing and difficulty walking. All affected children presented with spasticity in the lower limbs that progressed to the upper extremities. All had mild to moderate cognitive and speech delay.; to: ID reported in this type of HSP in 2 families. Zivony-Elboum et al. (2012) reported 9 patients from 2 Arab Moslem families with early-onset spastic paraplegia. Affected individuals showed developmental and motor delay during the first 2 years of life. They had unsteadiness in standing and difficulty walking. All affected children presented with spasticity in the lower limbs that progressed to the upper extremities. All had mild to moderate cognitive and speech delay. Functional studied performed. |
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| Intellectual disability syndromic and non-syndromic v0.394 | HAL | Zornitza Stark Marked gene: HAL as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.394 | HAL | Zornitza Stark Gene: hal has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.394 | HAL | Zornitza Stark Phenotypes for gene: HAL were changed from to [Histidinemia], MIM#235800 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.393 | HAL | Zornitza Stark Publications for gene: HAL were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.392 | HAL | Zornitza Stark Mode of inheritance for gene: HAL was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.391 | HAL | Zornitza Stark Classified gene: HAL as Red List (low evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.391 | HAL | Zornitza Stark Gene: hal has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.390 | HAL | Zornitza Stark reviewed gene: HAL: Rating: RED; Mode of pathogenicity: None; Publications: 4421298, 7119955; Phenotypes: [Histidinemia], MIM#235800; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.390 | UCHL1 | Chirag Patel Classified gene: UCHL1 as Red List (low evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.390 | UCHL1 | Chirag Patel Gene: uchl1 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.389 | UCHL1 |
Chirag Patel Source Genetic Health Queensland was removed from UCHL1. Source Expert list was added to UCHL1. Mode of inheritance for gene UCHL1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: UCHL1 were changed from to Spastic paraplegia 79, autosomal recessive; OMIM #615491 |
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| Intellectual disability syndromic and non-syndromic v0.388 | UCHL1 | Chirag Patel reviewed gene: UCHL1: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Spastic paraplegia 79, autosomal recessive, OMIM #615491; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.388 | UFM1 | Chirag Patel Classified gene: UFM1 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.388 | UFM1 | Chirag Patel Gene: ufm1 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.387 | UFM1 | Chirag Patel commented on gene: UFM1: 20 families reported with encephalopathy/ID phenotype with functional studies. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.387 | UFM1 |
Chirag Patel gene: UFM1 was added gene: UFM1 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert list Mode of inheritance for gene: UFM1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: UFM1 were set to PubMed: 27545674; 27545681; 28931644 Phenotypes for gene: UFM1 were set to Leukodystrophy, hypomyelinating, 14; OMIM #617899 Review for gene: UFM1 was set to GREEN Added comment: Sources: Expert list |
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| Intellectual disability syndromic and non-syndromic v0.386 | UGT1A1 | Chirag Patel Classified gene: UGT1A1 as Red List (low evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.386 | UGT1A1 | Chirag Patel Gene: ugt1a1 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.385 | UGT1A1 |
Chirag Patel Source Genetic Health Queensland was removed from UGT1A1. Source Expert list was added to UGT1A1. Mode of inheritance for gene UGT1A1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: UGT1A1 were changed from to Crigler-Najjar syndrome, type I, OMIM #218800; Crigler-Najjar syndrome, type II, OMIM #606785 |
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| Intellectual disability syndromic and non-syndromic v0.384 | UGT1A1 | Chirag Patel reviewed gene: UGT1A1: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Crigler-Najjar syndrome, type I, OMIM #218800, Crigler-Najjar syndrome, type II, OMIM #606785; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.384 | UNC13D | Chirag Patel Classified gene: UNC13D as Red List (low evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.384 | UNC13D | Chirag Patel Gene: unc13d has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.383 | UNC13D |
Chirag Patel Source Genetic Health Queensland was removed from UNC13D. Source Expert list was added to UNC13D. Mode of inheritance for gene UNC13D was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: UNC13D were changed from to Hemophagocytic lymphohistiocytosis, familial, 3; OMIM #608898 |
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| Intellectual disability syndromic and non-syndromic v0.382 | UNC13D | Chirag Patel reviewed gene: UNC13D: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Hemophagocytic lymphohistiocytosis, familial, 3, OMIM #608898; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.382 | UQCC2 |
Chirag Patel Source Genetic Health Queensland was removed from UQCC2. Source Expert list was added to UQCC2. Mode of inheritance for gene UQCC2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: UQCC2 were changed from to Mitochondrial complex III deficiency, nuclear type 7; OMIM #615824 Publications for gene UQCC2 were changed from PubMed: 28804536; 24385928 to PubMed: 28804536; 24385928 |
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| Intellectual disability syndromic and non-syndromic v0.381 | UQCC2 | Chirag Patel Classified gene: UQCC2 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.381 | UQCC2 | Chirag Patel Gene: uqcc2 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.380 | UQCC2 | Chirag Patel reviewed gene: UQCC2: Rating: AMBER; Mode of pathogenicity: None; Publications: PubMed: 28804536, 24385928; Phenotypes: Mitochondrial complex III deficiency, nuclear type 7, OMIM #615824; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.380 | UQCRB | Chirag Patel Classified gene: UQCRB as Red List (low evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.380 | UQCRB | Chirag Patel Gene: uqcrb has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.379 | UQCRB |
Chirag Patel Source Genetic Health Queensland was removed from UQCRB. Source Expert list was added to UQCRB. Mode of inheritance for gene UQCRB was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: UQCRB were changed from to Mitochondrial complex III deficiency, nuclear type 3; OMIM #615158 Publications for gene UQCRB were changed from PubMed: 12709789; 28604960 to PubMed: 12709789; 28604960 |
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| Intellectual disability syndromic and non-syndromic v0.378 | UQCRB | Chirag Patel reviewed gene: UQCRB: Rating: RED; Mode of pathogenicity: None; Publications: PubMed: 12709789, 28604960; Phenotypes: Mitochondrial complex III deficiency, nuclear type 3, OMIM #615158; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.378 | UQCRC2 |
Chirag Patel Source Genetic Health Queensland was removed from UQCRC2. Source Expert list was added to UQCRC2. Mode of inheritance for gene UQCRC2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: UQCRC2 were changed from to Mitochondrial complex III deficiency, nuclear type 5; OMIM #615160 |
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| Intellectual disability syndromic and non-syndromic v0.377 | UQCRC2 | Chirag Patel Classified gene: UQCRC2 as Red List (low evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.377 | UQCRC2 | Chirag Patel Gene: uqcrc2 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.376 | UQCRC2 | Chirag Patel reviewed gene: UQCRC2: Rating: RED; Mode of pathogenicity: None; Publications: PubMed: 28275242; Phenotypes: Mitochondrial complex III deficiency, nuclear type 5, OMIM #615160; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.376 | UQCRQ | Chirag Patel Classified gene: UQCRQ as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.376 | UQCRQ | Chirag Patel Gene: uqcrq has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.375 | UQCRQ |
Chirag Patel Source Genetic Health Queensland was removed from UQCRQ. Source Expert list was added to UQCRQ. Mode of inheritance for gene UQCRQ was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: UQCRQ were changed from to Mitochondrial complex III deficiency, nuclear type 4; OMIM #615159 Publications for gene UQCRQ were changed from PubMed: 18439546 to PubMed: 18439546 |
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| Intellectual disability syndromic and non-syndromic v0.374 | UQCRQ | Chirag Patel reviewed gene: UQCRQ: Rating: AMBER; Mode of pathogenicity: None; Publications: PubMed: 18439546; Phenotypes: Mitochondrial complex III deficiency, nuclear type 4, OMIM #615159; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.374 | VAMP1 | Chirag Patel Classified gene: VAMP1 as Red List (low evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.374 | VAMP1 | Chirag Patel Gene: vamp1 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.373 | VAMP1 | Chirag Patel reviewed gene: VAMP1: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Spastic ataxia 1, autosomal dominant, OMIM #108600, Myasthenic syndrome, congenital, 25, OMIM #618323; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.373 | VAMP1 |
Chirag Patel Source Genetic Health Queensland was removed from VAMP1. Source Expert list was added to VAMP1. Mode of inheritance for gene VAMP1 was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Phenotypes for gene: VAMP1 were changed from to Spastic ataxia 1, autosomal dominant, OMIM #108600; Myasthenic syndrome, congenital, 25, OMIM #618323 |
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| Intellectual disability syndromic and non-syndromic v0.372 | VANGL1 | Chirag Patel Classified gene: VANGL1 as Red List (low evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.372 | VANGL1 | Chirag Patel Gene: vangl1 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.371 | VANGL1 | Chirag Patel reviewed gene: VANGL1: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Caudal regression syndrome, OMIM #600145, {Neural tube defects, susceptibility to}, OMIM #182940; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.371 | VANGL1 |
Chirag Patel Source Genetic Health Queensland was removed from VANGL1. Source Expert list was added to VANGL1. Mode of inheritance for gene VANGL1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: VANGL1 were changed from to Caudal regression syndrome, OMIM #600145; {Neural tube defects, susceptibility to}, OMIM #182940 |
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| Intellectual disability syndromic and non-syndromic v0.370 | VARS2 |
Chirag Patel Source Genetic Health Queensland was removed from VARS2. Source Expert list was added to VARS2. Mode of inheritance for gene VARS2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: VARS2 were changed from to Combined oxidative phosphorylation deficiency 20; OMIM #615917 Publications for gene VARS2 were changed from PubMed: 24827421; 25058219; 29137650; 29314548; 31064326 to PubMed: 24827421; 25058219; 29137650; 29314548; 31064326 |
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| Intellectual disability syndromic and non-syndromic v0.369 | VARS2 | Chirag Patel Deleted their comment | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.369 | VARS2 | Chirag Patel edited their review of gene: VARS2: Added comment: Multiple patients reported with ID, encephalopathy as part of this mitochondrial disorder.; Changed rating: GREEN; Changed publications: PubMed: 24827421, 25058219, 29137650, 29314548, 31064326 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.369 | VARS2 | Chirag Patel reviewed gene: VARS2: Rating: AMBER; Mode of pathogenicity: None; Publications: PubMed: 24827421, 25058219,; Phenotypes: Combined oxidative phosphorylation deficiency 20, OMIM #615917; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.369 | VIPAS39 |
Chirag Patel Source Genetic Health Queensland was removed from VIPAS39. Source Expert list was added to VIPAS39. Mode of inheritance for gene VIPAS39 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: VIPAS39 were changed from to Arthrogryposis, renal dysfunction, and cholestasis 2; OMIM #613404 Publications for gene VIPAS39 were changed from PMID: 20190753 to PMID: 20190753 |
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| Intellectual disability syndromic and non-syndromic v0.368 | VIPAS39 | Chirag Patel reviewed gene: VIPAS39: Rating: GREEN; Mode of pathogenicity: None; Publications: PubMed: 20190753; Phenotypes: Arthrogryposis, renal dysfunction, and cholestasis 2, OMIM #613404; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.368 | VPS33B |
Chirag Patel Source Genetic Health Queensland was removed from VPS33B. Source Expert list was added to VPS33B. Mode of inheritance for gene VPS33B was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: VPS33B were changed from to Arthrogryposis, renal dysfunction, and cholestasis 1; OMIM #208085 Publications for gene VPS33B were changed from PMID: 31240160; 30561130 to PMID: 31240160; 30561130 |
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| Intellectual disability syndromic and non-syndromic v0.367 | VPS33B | Chirag Patel reviewed gene: VPS33B: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 31240160, 30561130; Phenotypes: Arthrogryposis, renal dysfunction, and cholestasis 1, OMIM #208085; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.367 | VPS37A | Chirag Patel Classified gene: VPS37A as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.367 | VPS37A | Chirag Patel Gene: vps37a has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.366 | VPS37A |
Chirag Patel Source Genetic Health Queensland was removed from VPS37A. Source Expert list was added to VPS37A. Mode of inheritance for gene VPS37A was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: VPS37A were changed from to Spastic paraplegia 53, autosomal recessive; OMIM #614898 Publications for gene VPS37A were changed from PMID: 22717650 to PMID: 22717650 |
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| Intellectual disability syndromic and non-syndromic v0.365 | VPS37A | Chirag Patel reviewed gene: VPS37A: Rating: AMBER; Mode of pathogenicity: None; Publications: PMID: 22717650; Phenotypes: Spastic paraplegia 53, autosomal recessive, OMIM #614898; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.365 | VPS45 | Chirag Patel Classified gene: VPS45 as Red List (low evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.365 | VPS45 | Chirag Patel Gene: vps45 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.364 | VPS45 |
Chirag Patel Source Genetic Health Queensland was removed from VPS45. Source Expert list was added to VPS45. Mode of inheritance for gene VPS45 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: VPS45 were changed from to Neutropenia, severe congenital, 5, autosomal recessive; OMIM #615285 |
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| Intellectual disability syndromic and non-syndromic v0.363 | VPS45 | Chirag Patel reviewed gene: VPS45: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Neutropenia, severe congenital, 5, autosomal recessive, OMIM #615285; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.363 | WASF1 | Chirag Patel Classified gene: WASF1 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.363 | WASF1 | Chirag Patel Gene: wasf1 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.362 | WASF1 | Chirag Patel edited their review of gene: WASF1: Added comment: 5 unrelated individuals with moderate to profound intellectual disability with autistic features and seizures. Functional studies using fibroblast cells from two affected individuals showed a truncated WASF1 and a defect in actin remodeling.; Changed phenotypes: No OMIM phenotype # yet. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.362 | WASF1 |
Chirag Patel gene: WASF1 was added gene: WASF1 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert list Mode of inheritance for gene: WASF1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: WASF1 were set to PMID: 29961568 Review for gene: WASF1 was set to GREEN Added comment: Sources: Expert list |
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| Intellectual disability syndromic and non-syndromic v0.361 | WASHC4 | Chirag Patel Classified gene: WASHC4 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.361 | WASHC4 | Chirag Patel Gene: washc4 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.360 | WASHC4 |
Chirag Patel Source Genetic Health Queensland was removed from WASHC4. Source Expert list was added to WASHC4. Mode of inheritance for gene WASHC4 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: WASHC4 were changed from to ?Mental retardation, autosomal recessive 43; OMIM #615817 Publications for gene WASHC4 were changed from PubMed: 21498477 to PubMed: 21498477 |
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| Intellectual disability syndromic and non-syndromic v0.359 | WASHC4 | Chirag Patel reviewed gene: WASHC4: Rating: AMBER; Mode of pathogenicity: None; Publications: PubMed: 21498477; Phenotypes: ?Mental retardation, autosomal recessive 43, OMIM #615817; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.359 | WASHC5 | Chirag Patel Classified gene: WASHC5 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.359 | WASHC5 | Chirag Patel Gene: washc5 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.358 | WASHC5 |
Chirag Patel Source Genetic Health Queensland was removed from WASHC5. Source Expert list was added to WASHC5. Mode of inheritance for gene WASHC5 was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Phenotypes for gene: WASHC5 were changed from to Spastic paraplegia 8, autosomal dominant, OMIM #603563; Ritscher-Schinzel syndrome 1; OMIM #220210 Publications for gene WASHC5 were changed from PubMed: 24065355 to PubMed: 24065355 |
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| Intellectual disability syndromic and non-syndromic v0.357 | WASHC5 | Chirag Patel reviewed gene: WASHC5: Rating: AMBER; Mode of pathogenicity: None; Publications: PubMed: 24065355; Phenotypes: Spastic paraplegia 8, autosomal dominant, OMIM #603563, Ritscher-Schinzel syndrome 1, OMIM #220210; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.357 | WDR11 | Chirag Patel Classified gene: WDR11 as Red List (low evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.357 | WDR11 | Chirag Patel Gene: wdr11 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.356 | WDR11 | Chirag Patel reviewed gene: WDR11: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Hypogonadotropic hypogonadism 14 with or without anosmia, OMIM #614858; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.356 | WDR13 | Chirag Patel Classified gene: WDR13 as Red List (low evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.356 | WDR13 | Chirag Patel Gene: wdr13 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.355 | WDR13 | Chirag Patel reviewed gene: WDR13: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.355 | WDR19 | Chirag Patel Classified gene: WDR19 as Red List (low evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.355 | WDR19 | Chirag Patel Gene: wdr19 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.355 | WDR19 | Chirag Patel Classified gene: WDR19 as Red List (low evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.355 | WDR19 | Chirag Patel Gene: wdr19 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.354 | WDR19 | Chirag Patel reviewed gene: WDR19: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ?Short-rib thoracic dysplasia 5 with or without polydactyly, OMIM #614376, Nephronophthisis 13, OMIM #614377, Senior-Loken syndrome 8, OMIM#616307; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.354 | WDR19 | Chirag Patel Phenotypes for gene: WDR19 were changed from ?Short-rib thoracic dysplasia 5 with or without polydactyly; OMIM #614376; AR 3 Nephronophthisis 13 614377 AR 3 Senior-Loken syndrome 8 616307 to ?Short-rib thoracic dysplasia 5 with or without polydactyly, OMIM #614376; Nephronophthisis 13, OMIM #614377; Senior-Loken syndrome 8, OMIM#616307 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.353 | WDR19 |
Chirag Patel Source Genetic Health Queensland was removed from WDR19. Source Expert list was added to WDR19. Mode of inheritance for gene WDR19 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: WDR19 were changed from to ?Short-rib thoracic dysplasia 5 with or without polydactyly; OMIM #614376; AR 3 Nephronophthisis 13 614377 AR 3 Senior-Loken syndrome 8 616307 |
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| Intellectual disability syndromic and non-syndromic v0.352 | WDR34 | Chirag Patel Classified gene: WDR34 as Red List (low evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.352 | WDR34 | Chirag Patel Gene: wdr34 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.351 | WDR34 |
Chirag Patel Source Genetic Health Queensland was removed from WDR34. Source Expert list was added to WDR34. Mode of inheritance for gene WDR34 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: WDR34 were changed from to Short-rib thoracic dysplasia 11 with or without polydactyly; OMIM #615633 |
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| Intellectual disability syndromic and non-syndromic v0.350 | WDR34 | Chirag Patel reviewed gene: WDR34: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Short-rib thoracic dysplasia 11 with or without polydactyly, OMIM #615633; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.350 | WDR37 | Chirag Patel Classified gene: WDR37 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.350 | WDR37 | Chirag Patel Gene: wdr37 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.349 | WDR37 | Chirag Patel commented on gene: WDR37: 9 unrelated patients reported, with functional studies. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.349 | WDR37 |
Chirag Patel gene: WDR37 was added gene: WDR37 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert list Mode of inheritance for gene: WDR37 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: WDR37 were set to PubMed: 31327508; 31327510 Phenotypes for gene: WDR37 were set to Neurooculocardiogenitourinary syndrome; OMIM #618652 Review for gene: WDR37 was set to GREEN Added comment: Sources: Expert list |
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| Intellectual disability syndromic and non-syndromic v0.348 | WNT1 | Chirag Patel reviewed gene: WNT1: Rating: GREEN; Mode of pathogenicity: None; Publications: PubMed: 26671912; Phenotypes: Osteogenesis imperfecta, type XV, OMIM# 615220; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.348 | WNT1 |
Chirag Patel Source Genetic Health Queensland was removed from WNT1. Source Expert list was added to WNT1. Mode of inheritance for gene WNT1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: WNT1 were changed from to Osteogenesis imperfecta, type XV; OMIM# 615220 |
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| Intellectual disability syndromic and non-syndromic v0.347 | WNT5A |
Chirag Patel Source Genetic Health Queensland was removed from WNT5A. Source Expert list was added to WNT5A. Mode of inheritance for gene WNT5A was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: WNT5A were changed from to Robinow syndrome, autosomal dominant 1; OMIM# 180700 |
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| Intellectual disability syndromic and non-syndromic v0.346 | WNT5A | Chirag Patel reviewed gene: WNT5A: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Robinow syndrome, autosomal dominant 1, OMIM# 180700; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.346 | WNT5A | Chirag Patel Deleted their review | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.346 | WNT5A | Chirag Patel reviewed gene: WNT5A: Rating: ; Mode of pathogenicity: None; Publications: ; Phenotypes: Robinow syndrome, autosomal dominant 1, OMIM# 180700; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.346 | WRAP53 | Chirag Patel Mode of inheritance for gene WRAP53 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.345 | WRAP53 |
Chirag Patel Source Genetic Health Queensland was removed from WRAP53. Source Expert list was added to WRAP53. Phenotypes for gene: WRAP53 were changed from to Dyskeratosis congenita, autosomal recessive 3; OMIM# 613988 |
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| Intellectual disability syndromic and non-syndromic v0.344 | WRAP53 | Chirag Patel Classified gene: WRAP53 as Red List (low evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.344 | WRAP53 | Chirag Patel Gene: wrap53 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.343 | WRAP53 | Chirag Patel reviewed gene: WRAP53: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Dyskeratosis congenita, autosomal recessive 3, OMIM# 613988; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.343 | HADHB | Zornitza Stark Marked gene: HADHB as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.343 | HADHB | Zornitza Stark Gene: hadhb has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.343 | HADHB | Zornitza Stark Phenotypes for gene: HADHB were changed from to Trifunctional protein deficiency, MIM#609015 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.342 | HADHB | Zornitza Stark Mode of inheritance for gene: HADHB was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.341 | HADHB | Zornitza Stark reviewed gene: HADHB: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Trifunctional protein deficiency, MIM#609015; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.341 | HADH | Zornitza Stark Marked gene: HADH as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.341 | HADH | Zornitza Stark Gene: hadh has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.341 | HADH | Zornitza Stark Phenotypes for gene: HADH were changed from to 3-hydroxyacyl-CoA dehydrogenase deficiency, MIM#231530; Hyperinsulinemic hypoglycemia, familial, 4, MIM#609975 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.340 | HADH | Zornitza Stark Mode of inheritance for gene: HADH was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.339 | HADH | Zornitza Stark Classified gene: HADH as Red List (low evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.339 | HADH | Zornitza Stark Gene: hadh has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.338 | HADH | Zornitza Stark reviewed gene: HADH: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: 3-hydroxyacyl-CoA dehydrogenase deficiency, MIM#231530, Hyperinsulinemic hypoglycemia, familial, 4, MIM#609975; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.338 | H3F3B | Zornitza Stark Marked gene: H3F3B as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.338 | H3F3B | Zornitza Stark Gene: h3f3b has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.338 | H3F3B | Zornitza Stark Classified gene: H3F3B as Red List (low evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.338 | H3F3B | Zornitza Stark Gene: h3f3b has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.337 | H19 | Zornitza Stark Marked gene: H19 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.337 | H19 | Zornitza Stark Gene: h19 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.337 | H19 | Zornitza Stark Phenotypes for gene: H19 were changed from to Beckwith-Wiedemann syndrome, MIM#130650; Silver-Russell syndrome, MIM#180860 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.336 | H19 | Zornitza Stark Classified gene: H19 as Red List (low evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.336 | H19 | Zornitza Stark Gene: h19 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.335 | H19 | Zornitza Stark reviewed gene: H19: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Beckwith-Wiedemann syndrome, MIM#130650, Silver-Russell syndrome, MIM#180860; Mode of inheritance: None | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.335 | GYS2 | Zornitza Stark Marked gene: GYS2 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.335 | GYS2 | Zornitza Stark Gene: gys2 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.335 | GYS2 | Zornitza Stark Phenotypes for gene: GYS2 were changed from to Glycogen storage disease 0, liver, MIM#240600 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.334 | GYS2 | Zornitza Stark Mode of inheritance for gene: GYS2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.333 | GYS2 | Zornitza Stark Classified gene: GYS2 as Red List (low evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.333 | GYS2 | Zornitza Stark Gene: gys2 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.332 | GYS2 | Zornitza Stark reviewed gene: GYS2: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Glycogen storage disease 0, liver, MIM#240600; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.332 | GTF2IRD1 | Zornitza Stark Marked gene: GTF2IRD1 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.332 | GTF2IRD1 | Zornitza Stark Gene: gtf2ird1 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.332 | GTF2IRD1 | Zornitza Stark Publications for gene: GTF2IRD1 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.331 | GTF2IRD1 | Zornitza Stark Classified gene: GTF2IRD1 as Red List (low evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.331 | GTF2IRD1 | Zornitza Stark Gene: gtf2ird1 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.330 | GTF2IRD1 | Zornitza Stark reviewed gene: GTF2IRD1: Rating: RED; Mode of pathogenicity: None; Publications: 31418010; Phenotypes: ; Mode of inheritance: None | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.330 | GTF2I | Zornitza Stark Marked gene: GTF2I as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.330 | GTF2I | Zornitza Stark Gene: gtf2i has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.330 | GTF2I | Zornitza Stark Classified gene: GTF2I as Red List (low evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.330 | GTF2I | Zornitza Stark Gene: gtf2i has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.329 | GTF2I | Zornitza Stark reviewed gene: GTF2I: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.329 | GSPT2 | Zornitza Stark Marked gene: GSPT2 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.329 | GSPT2 | Zornitza Stark Gene: gspt2 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.329 | GSPT2 | Zornitza Stark Publications for gene: GSPT2 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.328 | GSPT2 | Zornitza Stark Classified gene: GSPT2 as Red List (low evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.328 | GSPT2 | Zornitza Stark Gene: gspt2 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.327 | GSPT2 | Zornitza Stark reviewed gene: GSPT2: Rating: RED; Mode of pathogenicity: None; Publications: 28414775; Phenotypes: ; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.327 | GRPR | Zornitza Stark Marked gene: GRPR as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.327 | GRPR | Zornitza Stark Gene: grpr has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.327 | GRPR | Zornitza Stark Classified gene: GRPR as Red List (low evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.327 | GRPR | Zornitza Stark Gene: grpr has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.326 | GRPR | Zornitza Stark reviewed gene: GRPR: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.326 | GPSM2 | Zornitza Stark Marked gene: GPSM2 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.326 | GPSM2 | Zornitza Stark Gene: gpsm2 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.326 | GPSM2 | Zornitza Stark Phenotypes for gene: GPSM2 were changed from to Chudley-McCullough syndrome, MIM#604213 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.325 | GPSM2 | Zornitza Stark Classified gene: GPSM2 as Red List (low evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.325 | GPSM2 | Zornitza Stark Gene: gpsm2 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.324 | GPSM2 | Zornitza Stark reviewed gene: GPSM2: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Chudley-McCullough syndrome, MIM#604213; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.324 | GPHN | Zornitza Stark Marked gene: GPHN as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.324 | GPHN | Zornitza Stark Gene: gphn has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.324 | GPHN | Zornitza Stark Phenotypes for gene: GPHN were changed from to Molybdenum cofactor deficiency C, MIM#615501 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.323 | GPHN | Zornitza Stark Mode of inheritance for gene: GPHN was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.322 | GPHN | Zornitza Stark reviewed gene: GPHN: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Molybdenum cofactor deficiency C, MIM#615501; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.322 | GOSR2 | Zornitza Stark Marked gene: GOSR2 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.322 | GOSR2 | Zornitza Stark Gene: gosr2 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.322 | GOSR2 | Zornitza Stark Phenotypes for gene: GOSR2 were changed from to Epilepsy, progressive myoclonic 6, MIM#614018 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.321 | GOSR2 | Zornitza Stark Mode of inheritance for gene: GOSR2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.320 | GOSR2 | Zornitza Stark Classified gene: GOSR2 as Red List (low evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.320 | GOSR2 | Zornitza Stark Gene: gosr2 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.319 | GOSR2 | Zornitza Stark reviewed gene: GOSR2: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Epilepsy, progressive myoclonic 6, MIM#614018; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v0.156 | GORAB | Zornitza Stark Marked gene: GORAB as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v0.156 | GORAB | Zornitza Stark Gene: gorab has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v0.156 | GORAB | Zornitza Stark Phenotypes for gene: GORAB were changed from to Geroderma osteodysplasticum, MIM#231070 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v0.155 | GORAB | Zornitza Stark Mode of inheritance for gene: GORAB was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v0.154 | GORAB | Zornitza Stark reviewed gene: GORAB: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Geroderma osteodysplasticum, MIM#231070; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.319 | GORAB | Zornitza Stark Marked gene: GORAB as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.319 | GORAB | Zornitza Stark Gene: gorab has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.319 | GORAB | Zornitza Stark Phenotypes for gene: GORAB were changed from to Geroderma osteodysplasticum, MIM#231070 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.318 | GORAB | Zornitza Stark Mode of inheritance for gene: GORAB was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.317 | GORAB | Zornitza Stark reviewed gene: GORAB: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Geroderma osteodysplasticum, MIM#231070; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.317 | GNE | Zornitza Stark Marked gene: GNE as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.317 | GNE | Zornitza Stark Gene: gne has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.317 | GNE | Zornitza Stark Phenotypes for gene: GNE were changed from to Sialuria, MIM#269921 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.316 | GNE | Zornitza Stark Mode of inheritance for gene: GNE was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.315 | GNE | Zornitza Stark reviewed gene: GNE: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Sialuria, MIM#269921; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.315 | ZNF462 | Chirag Patel Classified gene: ZNF462 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.315 | ZNF462 | Chirag Patel Gene: znf462 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.314 | ZNF462 |
Chirag Patel gene: ZNF462 was added gene: ZNF462 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert list Mode of inheritance for gene: ZNF462 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: ZNF462 were set to PubMed: 31361404; 28513610 Phenotypes for gene: ZNF462 were set to Weiss-Kruszka syndrome; OMIM# 618619 Review for gene: ZNF462 was set to GREEN Added comment: Sources: Expert list |
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| Intellectual disability syndromic and non-syndromic v0.313 | XPA |
Chirag Patel Source Genetic Health Queensland was removed from XPA. Source Expert list was added to XPA. Mode of inheritance for gene XPA was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: XPA were changed from to Xeroderma pigmentosum, group A; OMIM# 278700 |
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| Intellectual disability syndromic and non-syndromic v0.312 | XPA | Chirag Patel reviewed gene: XPA: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Xeroderma pigmentosum, group A, OMIM# 278700; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.312 | XYLT1 |
Chirag Patel Source Genetic Health Queensland was removed from XYLT1. Source Expert list was added to XYLT1. Mode of inheritance for gene XYLT1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: XYLT1 were changed from to Desbuquois dysplasia 2; OMIM# 615777 Publications for gene XYLT1 were changed from PubMed: 24581741; 22711505; 23982343 to PubMed: 24581741; 22711505; 23982343 |
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| Intellectual disability syndromic and non-syndromic v0.311 | XYLT1 | Chirag Patel reviewed gene: XYLT1: Rating: GREEN; Mode of pathogenicity: None; Publications: PubMed: 24581741, 22711505, 23982343; Phenotypes: Desbuquois dysplasia 2, OMIM# 615777; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.311 | ZC3H14 | Chirag Patel Classified gene: ZC3H14 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.311 | ZC3H14 | Chirag Patel Gene: zc3h14 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.310 | ZC3H14 |
Chirag Patel Source Genetic Health Queensland was removed from ZC3H14. Source Expert list was added to ZC3H14. Mode of inheritance for gene ZC3H14 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: ZC3H14 were changed from to Mental retardation, autosomal recessive 56; OMIM# 617125 Publications for gene ZC3H14 were changed from PubMed: 21734151 to PubMed: 21734151 |
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| Intellectual disability syndromic and non-syndromic v0.309 | ZC3H14 | Chirag Patel reviewed gene: ZC3H14: Rating: AMBER; Mode of pathogenicity: None; Publications: PubMed: 21734151; Phenotypes: Mental retardation, autosomal recessive 56, OMIM# 617125; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.309 | ZCCHC12 | Chirag Patel Classified gene: ZCCHC12 as Red List (low evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.309 | ZCCHC12 | Chirag Patel Gene: zcchc12 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.308 | ZCCHC12 | Chirag Patel reviewed gene: ZCCHC12: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.308 | ZDHHC15 | Chirag Patel Classified gene: ZDHHC15 as Red List (low evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.308 | ZDHHC15 | Chirag Patel Gene: zdhhc15 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.307 | ZDHHC15 | Chirag Patel reviewed gene: ZDHHC15: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.307 | ZFP57 | Chirag Patel Classified gene: ZFP57 as Red List (low evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.307 | ZFP57 | Chirag Patel Gene: zfp57 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.306 | ZFP57 |
Chirag Patel Source Genetic Health Queensland was removed from ZFP57. Source Expert list was added to ZFP57. Mode of inheritance for gene ZFP57 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, paternally imprinted (maternal allele expressed) Phenotypes for gene: ZFP57 were changed from to {Diabetes mellitus, transient neonatal, 1}; OMIM# 601410 |
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| Intellectual disability syndromic and non-syndromic v0.305 | ZFP57 | Chirag Patel reviewed gene: ZFP57: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: {Diabetes mellitus, transient neonatal, 1}, OMIM# 601410; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, paternally imprinted (maternal allele expressed) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.305 | ZMYM3 | Chirag Patel Classified gene: ZMYM3 as Red List (low evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.305 | ZMYM3 | Chirag Patel Gene: zmym3 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.304 | ZMYM3 | Chirag Patel reviewed gene: ZMYM3: Rating: RED; Mode of pathogenicity: None; Publications: PMID: 24721225; Phenotypes: ; Mode of inheritance: None | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.304 | ZNF335 | Chirag Patel Publications for gene ZNF335 were changed from PubMed: 23178126; 27540107; 29652087 to PubMed: 23178126; 27540107; 29652087 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.303 | ZNF335 |
Chirag Patel Source Genetic Health Queensland was removed from ZNF335. Source Expert list was added to ZNF335. Mode of inheritance for gene ZNF335 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: ZNF335 were changed from to Microcephaly 10, primary, autosomal recessive; OMIM #615095 |
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| Intellectual disability syndromic and non-syndromic v0.302 | ZNF335 | Chirag Patel reviewed gene: ZNF335: Rating: GREEN; Mode of pathogenicity: None; Publications: PubMed: 23178126, 27540107, 29652087; Phenotypes: Microcephaly 10, primary, autosomal recessive, OMIM #615095; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.302 | ZNF41 | Chirag Patel changed review comment from: Shoichet et al. (2003) described a female patient with severe nonsyndromic mental retardation and a de novo balanced translocation t(X;7)(p11.3;q11.21) in whom they cloned the DNA fragment that contained the X chromosomal and the autosomal breakpoint. In silico sequence analysis demonstrated that the ZNF41 gene was disrupted. Expression studies indicated that ZNF41 transcripts were absent in the patient cell line, suggesting that the mental disorder in this patient resulted from loss of functional ZNF41. Moreover, screening of a panel of patients with MRX led to the identification of 2 other ZNF41 mutations (314995.0001-314995.0002) that were not found in healthy control individuals. Based on their finding of the mutations in ZNF41 identified by Shoichet et al. (2003) in a total of 7 males in the NHLBI Exome Variant Server, and the additional finding of truncating ZNF41 variants in 1 male and 1 female in that database, Piton et al. (2013) classified the involvement of ZNF41 in mental retardation as highly questionable.; to: Shoichet et al. (2003) described a female patient with severe nonsyndromic mental retardation and a de novo balanced translocation t(X;7)(p11.3;q11.21) in whom they cloned the DNA fragment that contained the X chromosomal and the autosomal breakpoint. In silico sequence analysis demonstrated that the ZNF41 gene was disrupted. Expression studies indicated that ZNF41 transcripts were absent in the patient cell line, suggesting that the mental disorder in this patient resulted from loss of functional ZNF41. Screening of patients with mental retardation led to the identification of 2 other ZNF41 mutations that were not found in healthy control individuals. Based on their finding of the mutations in ZNF41 identified by Shoichet et al. (2003) in a total of 7 males in the NHLBI Exome Variant Server, and the additional finding of truncating ZNF41 variants in 1 male and 1 female in that database, Piton et al. (2013) classified the involvement of ZNF41 in mental retardation as highly questionable. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.302 | ZNF41 | Chirag Patel reviewed gene: ZNF41: Rating: RED; Mode of pathogenicity: None; Publications: PubMed: 14628291, 23871722; Phenotypes: ; Mode of inheritance: None | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.302 | ZNF41 | Chirag Patel Classified gene: ZNF41 as Red List (low evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.302 | ZNF41 | Chirag Patel Gene: znf41 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.301 | ZNF423 | Chirag Patel Marked gene: ZNF423 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.301 | ZNF423 | Chirag Patel Gene: znf423 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.301 | ZNF423 | Chirag Patel Classified gene: ZNF423 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.301 | ZNF423 | Chirag Patel Gene: znf423 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.300 | ZNF423 |
Chirag Patel Source Genetic Health Queensland was removed from ZNF423. Source Expert list was added to ZNF423. Mode of inheritance for gene ZNF423 was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Phenotypes for gene: ZNF423 were changed from to Joubert syndrome 19, OMIM# 614844 Publications for gene ZNF423 were changed from PMID: 22863007 to PMID: 22863007 |
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| Intellectual disability syndromic and non-syndromic v0.299 | ZNF423 | Chirag Patel reviewed gene: ZNF423: Rating: AMBER; Mode of pathogenicity: None; Publications: PubMed: 22863007; Phenotypes: Joubert syndrome 19, OMIM# 614844; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.299 | ZNF507 | Chirag Patel Classified gene: ZNF507 as Red List (low evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.299 | ZNF507 | Chirag Patel Gene: znf507 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.298 | ZNF507 | Chirag Patel reviewed gene: ZNF507: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.298 | ZNF674 | Chirag Patel Classified gene: ZNF674 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.298 | ZNF674 | Chirag Patel Gene: znf674 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.297 | ZNF674 |
Chirag Patel Source Genetic Health Queensland was removed from ZNF674. Source Expert list was added to ZNF674. Mode of inheritance for gene ZNF674 was changed from Unknown to X-LINKED: hemizygous mutation in males, biallelic mutations in females |
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| Intellectual disability syndromic and non-syndromic v0.296 | ZNF674 | Chirag Patel reviewed gene: ZNF674: Rating: RED; Mode of pathogenicity: None; Publications: PMID: 16385466; Phenotypes: ; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.296 | ZNF804A | Chirag Patel Classified gene: ZNF804A as Red List (low evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.296 | ZNF804A | Chirag Patel Gene: znf804a has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.295 | ZNF804A |
Chirag Patel Source Genetic Health Queensland was removed from ZNF804A. Source Expert list was added to ZNF804A. |
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| Intellectual disability syndromic and non-syndromic v0.294 | ZNF804A | Chirag Patel reviewed gene: ZNF804A: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.294 | ZNHIT6 | Chirag Patel Classified gene: ZNHIT6 as Red List (low evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.294 | ZNHIT6 | Chirag Patel Gene: znhit6 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.293 | ZNHIT6 | Chirag Patel reviewed gene: ZNHIT6: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.293 | GNAQ | Zornitza Stark Marked gene: GNAQ as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.293 | GNAQ | Zornitza Stark Gene: gnaq has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.293 | GNAQ | Zornitza Stark Phenotypes for gene: GNAQ were changed from to Sturge-Weber syndrome, somatic, mosaic, MIM#185300 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.292 | GNAQ | Zornitza Stark Classified gene: GNAQ as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.292 | GNAQ | Zornitza Stark Gene: gnaq has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.291 | GNAQ | Zornitza Stark reviewed gene: GNAQ: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: Sturge-Weber syndrome, somatic, mosaic, MIM#185300; Mode of inheritance: Other | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.291 | GNA14 | Zornitza Stark Marked gene: GNA14 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.291 | GNA14 | Zornitza Stark Gene: gna14 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.291 | GNA14 | Zornitza Stark Classified gene: GNA14 as Red List (low evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.291 | GNA14 | Zornitza Stark Gene: gna14 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.290 | GNA14 | Zornitza Stark reviewed gene: GNA14: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.290 | GLUD1 | Zornitza Stark Marked gene: GLUD1 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.290 | GLUD1 | Zornitza Stark Gene: glud1 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.290 | GLUD1 | Zornitza Stark Phenotypes for gene: GLUD1 were changed from to Hyperinsulinism-hyperammonemia syndrome, MIM#606762 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.289 | GLUD1 | Zornitza Stark Mode of inheritance for gene: GLUD1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.288 | GLUD1 | Zornitza Stark Classified gene: GLUD1 as Red List (low evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.288 | GLUD1 | Zornitza Stark Gene: glud1 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.287 | GLUD1 | Zornitza Stark reviewed gene: GLUD1: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Hyperinsulinism-hyperammonemia syndrome, MIM#606762; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.287 | GLIS3 | Zornitza Stark Marked gene: GLIS3 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.287 | GLIS3 | Zornitza Stark Gene: glis3 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.287 | GLIS3 | Zornitza Stark Phenotypes for gene: GLIS3 were changed from to Diabetes mellitus, neonatal, with congenital hypothyroidism, MIM#610199 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.286 | GLIS3 | Zornitza Stark Publications for gene: GLIS3 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.285 | GLIS3 | Zornitza Stark Mode of inheritance for gene: GLIS3 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.284 | GLIS3 | Zornitza Stark reviewed gene: GLIS3: Rating: GREEN; Mode of pathogenicity: None; Publications: 21139041; Phenotypes: Diabetes mellitus, neonatal, with congenital hypothyroidism, MIM#610199; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.284 | GJB1 | Zornitza Stark Marked gene: GJB1 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.284 | GJB1 | Zornitza Stark Gene: gjb1 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.284 | GJB1 | Zornitza Stark Phenotypes for gene: GJB1 were changed from to Charcot-Marie-Tooth neuropathy, X-linked dominant, 1, MIM#302800 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.283 | GJB1 | Zornitza Stark Classified gene: GJB1 as Red List (low evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.283 | GJB1 | Zornitza Stark Gene: gjb1 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.282 | GJB1 | Zornitza Stark reviewed gene: GJB1: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Charcot-Marie-Tooth neuropathy, X-linked dominant, 1, MIM#302800; Mode of inheritance: Other | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.282 | GJA1 | Zornitza Stark Marked gene: GJA1 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.282 | GJA1 | Zornitza Stark Gene: gja1 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.282 | GJA1 | Zornitza Stark Phenotypes for gene: GJA1 were changed from to Atrioventricular septal defect 3, MIM#600309; Craniometaphyseal dysplasia, autosomal recessive, MIM#218400; Erythrokeratodermia variabilis et progressiva 3, MIM#617525; Hypoplastic left heart syndrome 1, MIM#241550; Oculodentodigital dysplasia, MIM#164200; Oculodentodigital dysplasia, autosomal recessive, MIM#257850; Palmoplantar keratoderma with congenital alopecia, MIM#104100; Syndactyly, type III, MIM# 186100 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.281 | GJA1 | Zornitza Stark Mode of inheritance for gene: GJA1 was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.280 | GJA1 | Zornitza Stark Classified gene: GJA1 as Red List (low evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.280 | GJA1 | Zornitza Stark Gene: gja1 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.279 | GJA1 | Zornitza Stark reviewed gene: GJA1: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Atrioventricular septal defect 3, MIM#600309, Craniometaphyseal dysplasia, autosomal recessive, MIM#218400, Erythrokeratodermia variabilis et progressiva 3, MIM#617525, Hypoplastic left heart syndrome 1, MIM#241550, Oculodentodigital dysplasia, MIM#164200, Oculodentodigital dysplasia, autosomal recessive, MIM#257850, Palmoplantar keratoderma with congenital alopecia, MIM#104100, Syndactyly, type III, MIM# 186100; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.279 | GHR | Zornitza Stark Marked gene: GHR as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.279 | GHR | Zornitza Stark Gene: ghr has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.279 | GHR | Zornitza Stark Phenotypes for gene: GHR were changed from to Growth hormone insensitivity, partial, MIM#604271; Laron dwarfism, MIM#262500 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.278 | GHR | Zornitza Stark Mode of inheritance for gene: GHR was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.277 | GHR | Zornitza Stark Classified gene: GHR as Red List (low evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.277 | GHR | Zornitza Stark Gene: ghr has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.276 | GHR | Zornitza Stark reviewed gene: GHR: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Growth hormone insensitivity, partial, MIM#604271, Laron dwarfism, MIM#262500; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Callosome v0.31 | GCSH | Zornitza Stark Marked gene: GCSH as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Callosome v0.31 | GCSH | Zornitza Stark Gene: gcsh has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Callosome v0.31 | GCSH | Zornitza Stark Phenotypes for gene: GCSH were changed from to Glycine encephalopathy, MIM#605899 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Callosome v0.30 | GCSH | Zornitza Stark Publications for gene: GCSH were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Callosome v0.29 | GCSH | Zornitza Stark Mode of inheritance for gene: GCSH was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Callosome v0.28 | GCSH | Zornitza Stark Classified gene: GCSH as Red List (low evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Callosome v0.28 | GCSH | Zornitza Stark Gene: gcsh has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Callosome v0.27 | GCSH | Zornitza Stark reviewed gene: GCSH: Rating: RED; Mode of pathogenicity: None; Publications: 1671321; Phenotypes: Glycine encephalopathy, MIM#605899; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.276 | GCSH | Zornitza Stark Marked gene: GCSH as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.276 | GCSH | Zornitza Stark Gene: gcsh has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.276 | GCSH | Zornitza Stark Phenotypes for gene: GCSH were changed from Glycine encephalopathy, MIM#605899 to Glycine encephalopathy, MIM#605899 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.275 | GCSH | Zornitza Stark Phenotypes for gene: GCSH were changed from to Glycine encephalopathy, MIM#605899 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.274 | GCSH | Zornitza Stark Publications for gene: GCSH were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.273 | GCSH | Zornitza Stark Classified gene: GCSH as Red List (low evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.273 | GCSH | Zornitza Stark Gene: gcsh has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.272 | GCSH | Zornitza Stark reviewed gene: GCSH: Rating: RED; Mode of pathogenicity: None; Publications: 1671321; Phenotypes: Glycine encephalopathy, MIM#605899; Mode of inheritance: None | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.272 | GCK | Zornitza Stark Marked gene: GCK as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.272 | GCK | Zornitza Stark Gene: gck has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.272 | GCK | Zornitza Stark Phenotypes for gene: GCK were changed from to Diabetes mellitus, permanent neonatal 606176 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.271 | GCK | Zornitza Stark Mode of inheritance for gene: GCK was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.270 | GCK | Zornitza Stark Classified gene: GCK as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.270 | GCK | Zornitza Stark Gene: gck has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.269 | GCK | Zornitza Stark reviewed gene: GCK: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: Diabetes mellitus, permanent neonatal 606176; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.269 | GBE1 | Zornitza Stark Marked gene: GBE1 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.269 | GBE1 | Zornitza Stark Gene: gbe1 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.269 | GBE1 | Zornitza Stark Phenotypes for gene: GBE1 were changed from to Glycogen storage disease IV, MIM#232500 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.268 | GBE1 | Zornitza Stark Mode of inheritance for gene: GBE1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.267 | GBE1 | Zornitza Stark Classified gene: GBE1 as Red List (low evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.267 | GBE1 | Zornitza Stark Gene: gbe1 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.266 | GBE1 | Zornitza Stark reviewed gene: GBE1: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Glycogen storage disease IV, MIM#232500; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.266 | GBA2 | Zornitza Stark Marked gene: GBA2 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.266 | GBA2 | Zornitza Stark Gene: gba2 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.266 | GBA2 | Zornitza Stark Phenotypes for gene: GBA2 were changed from to Spastic paraplegia 46, autosomal recessive, MIM#614409 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.265 | GBA2 | Zornitza Stark Mode of inheritance for gene: GBA2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.264 | GBA2 | Zornitza Stark Classified gene: GBA2 as Red List (low evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.264 | GBA2 | Zornitza Stark Gene: gba2 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.263 | GBA2 | Zornitza Stark reviewed gene: GBA2: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Spastic paraplegia 46, autosomal recessive, MIM#614409; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.263 | GATA6 | Zornitza Stark Marked gene: GATA6 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.263 | GATA6 | Zornitza Stark Gene: gata6 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.263 | GATA6 | Zornitza Stark Phenotypes for gene: GATA6 were changed from to Pancreatic agenesis and congenital heart defects, MIM#600001 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.262 | GATA6 | Zornitza Stark Publications for gene: GATA6 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.261 | GATA6 | Zornitza Stark Mode of inheritance for gene: GATA6 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.260 | GATA6 | Zornitza Stark reviewed gene: GATA6: Rating: GREEN; Mode of pathogenicity: None; Publications: 22158542; Phenotypes: Pancreatic agenesis and congenital heart defects, MIM#600001; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.260 | GATA1 | Zornitza Stark Marked gene: GATA1 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.260 | GATA1 | Zornitza Stark Gene: gata1 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.260 | GATA1 | Zornitza Stark Mode of inheritance for gene: GATA1 was changed from Unknown to X-LINKED: hemizygous mutation in males, biallelic mutations in females | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.259 | GATA1 | Zornitza Stark Classified gene: GATA1 as Red List (low evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.259 | GATA1 | Zornitza Stark Gene: gata1 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.258 | GATA1 | Zornitza Stark reviewed gene: GATA1: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Thrombocytopenia, X-linked, with or without dyserythropoietic anaemia, MIM#300367, Thrombocytopenia with beta-thalassemia, X-linked, MIM#314050, Anemia, X-linked, with/without neutropenia and/or platelet abnormalities, MIM#300835; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.258 | GALT | Zornitza Stark Marked gene: GALT as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.258 | GALT | Zornitza Stark Gene: galt has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.258 | GALT | Zornitza Stark Phenotypes for gene: GALT were changed from to Galactosemia, MIM#230400 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.257 | GALT | Zornitza Stark Mode of inheritance for gene: GALT was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.256 | GALT | Zornitza Stark reviewed gene: GALT: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Galactosemia, MIM#230400; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v0.154 | GAD1 | Zornitza Stark Marked gene: GAD1 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v0.154 | GAD1 | Zornitza Stark Gene: gad1 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v0.154 | GAD1 | Zornitza Stark Phenotypes for gene: GAD1 were changed from to Cerebral palsy, spastic quadriplegic, 1, MIM#603513 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v0.153 | GAD1 | Zornitza Stark Publications for gene: GAD1 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v0.152 | GAD1 | Zornitza Stark Mode of inheritance for gene: GAD1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v0.151 | GAD1 | Zornitza Stark Classified gene: GAD1 as Red List (low evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v0.151 | GAD1 | Zornitza Stark Gene: gad1 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cerebral Palsy v0.5 | GAD1 | Zornitza Stark Marked gene: GAD1 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cerebral Palsy v0.5 | GAD1 | Zornitza Stark Gene: gad1 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cerebral Palsy v0.5 | GAD1 | Zornitza Stark Phenotypes for gene: GAD1 were changed from to Cerebral palsy, spastic quadriplegic, 1, MIM#603513 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cerebral Palsy v0.4 | GAD1 | Zornitza Stark Publications for gene: GAD1 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cerebral Palsy v0.3 | GAD1 | Zornitza Stark Mode of inheritance for gene: GAD1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cerebral Palsy v0.2 | GAD1 | Zornitza Stark Classified gene: GAD1 as Red List (low evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cerebral Palsy v0.2 | GAD1 | Zornitza Stark Gene: gad1 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cerebral Palsy v0.1 | GAD1 | Zornitza Stark reviewed gene: GAD1: Rating: RED; Mode of pathogenicity: None; Publications: 15571623; Phenotypes: Cerebral palsy, spastic quadriplegic, 1, MIM#603513; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.256 | GAD1 | Zornitza Stark Marked gene: GAD1 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.256 | GAD1 | Zornitza Stark Gene: gad1 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.256 | GAD1 | Zornitza Stark Phenotypes for gene: GAD1 were changed from to Cerebral palsy, spastic quadriplegic, 1, MIM#603513 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.255 | GAD1 | Zornitza Stark Publications for gene: GAD1 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.254 | GAD1 | Zornitza Stark Mode of inheritance for gene: GAD1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.253 | GAD1 | Zornitza Stark Classified gene: GAD1 as Red List (low evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.253 | GAD1 | Zornitza Stark Gene: gad1 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.252 | GAD1 | Zornitza Stark reviewed gene: GAD1: Rating: RED; Mode of pathogenicity: None; Publications: 15571623; Phenotypes: Cerebral palsy, spastic quadriplegic, 1, MIM#603513; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.252 | GABRG1 | Zornitza Stark Marked gene: GABRG1 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.252 | GABRG1 | Zornitza Stark Gene: gabrg1 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.252 | GABRG1 | Zornitza Stark Classified gene: GABRG1 as Red List (low evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.252 | GABRG1 | Zornitza Stark Gene: gabrg1 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.251 | GABRG1 | Zornitza Stark reviewed gene: GABRG1: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.251 | FUT8 | Zornitza Stark Marked gene: FUT8 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.251 | FUT8 | Zornitza Stark Gene: fut8 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.251 | FUT8 | Zornitza Stark Classified gene: FUT8 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.251 | FUT8 | Zornitza Stark Gene: fut8 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.250 | FUT8 |
Zornitza Stark gene: FUT8 was added gene: FUT8 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert list Mode of inheritance for gene: FUT8 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: FUT8 were set to 29304374 Phenotypes for gene: FUT8 were set to Congenital disorder of glycosylation with defective fucosylation 1, MIM#618005 Review for gene: FUT8 was set to GREEN Added comment: Three unrelated individuals reported with bi-allelic variants in this gene. Sources: Expert list |
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| Intellectual disability syndromic and non-syndromic v0.249 | FTL | Zornitza Stark Marked gene: FTL as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.249 | FTL | Zornitza Stark Gene: ftl has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.249 | FTL | Zornitza Stark Phenotypes for gene: FTL were changed from to Neurodegeneration with brain iron accumulation 3, MIM#606159; Hyperferritinemia-cataract syndrome, MIM#600886; L-ferritin deficiency, dominant and recessive, MIM#615604 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.248 | FTL | Zornitza Stark Mode of inheritance for gene: FTL was changed from Unknown to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.247 | FTL | Zornitza Stark Classified gene: FTL as Red List (low evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.247 | FTL | Zornitza Stark Gene: ftl has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.246 | FTL | Zornitza Stark reviewed gene: FTL: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Neurodegeneration with brain iron accumulation 3, MIM#606159, Hyperferritinemia-cataract syndrome, MIM#600886, L-ferritin deficiency, dominant and recessive, MIM#615604; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v0.149 | FRMPD4 | Zornitza Stark Marked gene: FRMPD4 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v0.149 | FRMPD4 | Zornitza Stark Gene: frmpd4 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v0.149 | FRMPD4 | Zornitza Stark Classified gene: FRMPD4 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v0.149 | FRMPD4 | Zornitza Stark Gene: frmpd4 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v0.148 | FRMPD4 |
Zornitza Stark gene: FRMPD4 was added gene: FRMPD4 was added to Mendeliome_VCGS. Sources: Expert list Mode of inheritance for gene: FRMPD4 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Publications for gene: FRMPD4 were set to 25644381; 29267967 Phenotypes for gene: FRMPD4 were set to Mental retardation, X-linked 104, MIM#300983 Review for gene: FRMPD4 was set to GREEN Added comment: Multiple affected individuals from unrelated families reported. Sources: Expert list |
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| Intellectual disability syndromic and non-syndromic v0.246 | FRMPD4 | Zornitza Stark Marked gene: FRMPD4 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.246 | FRMPD4 | Zornitza Stark Gene: frmpd4 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.246 | FRMPD4 | Zornitza Stark Phenotypes for gene: FRMPD4 were changed from to Mental retardation, X-linked 104, MIM#300983 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.245 | FRMPD4 | Zornitza Stark Publications for gene: FRMPD4 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.244 | FRMPD4 | Zornitza Stark Mode of inheritance for gene: FRMPD4 was changed from Unknown to X-LINKED: hemizygous mutation in males, biallelic mutations in females | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.243 | FRMPD4 | Zornitza Stark reviewed gene: FRMPD4: Rating: GREEN; Mode of pathogenicity: None; Publications: 25644381, 29267967; Phenotypes: Mental retardation, X-linked 104, MIM#300983; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.243 | FRAS1 | Zornitza Stark Marked gene: FRAS1 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.243 | FRAS1 | Zornitza Stark Gene: fras1 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.243 | FRAS1 | Zornitza Stark Phenotypes for gene: FRAS1 were changed from to Fraser syndrome 1, MIM#219000 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.242 | FRAS1 | Zornitza Stark Mode of inheritance for gene: FRAS1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.241 | FRAS1 | Zornitza Stark reviewed gene: FRAS1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Fraser syndrome 1, MIM#219000; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.241 | FLVCR1 | Zornitza Stark Marked gene: FLVCR1 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.241 | FLVCR1 | Zornitza Stark Gene: flvcr1 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.241 | FLVCR1 | Zornitza Stark Phenotypes for gene: FLVCR1 were changed from to Ataxia, posterior column, with retinitis pigmentosa, MIM#609033 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.240 | FLVCR1 | Zornitza Stark Mode of inheritance for gene: FLVCR1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.239 | FLVCR1 | Zornitza Stark Classified gene: FLVCR1 as Red List (low evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.239 | FLVCR1 | Zornitza Stark Gene: flvcr1 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.238 | FLVCR1 | Zornitza Stark reviewed gene: FLVCR1: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Ataxia, posterior column, with retinitis pigmentosa, MIM#609033; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.238 | FLNB | Zornitza Stark Marked gene: FLNB as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.238 | FLNB | Zornitza Stark Gene: flnb has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.238 | FLNB | Zornitza Stark Phenotypes for gene: FLNB were changed from to Larsen syndrome, MIM#150250 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.237 | FLNB | Zornitza Stark Mode of inheritance for gene: FLNB was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.236 | FLNB | Zornitza Stark Classified gene: FLNB as Red List (low evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.236 | FLNB | Zornitza Stark Gene: flnb has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.235 | FLNB | Zornitza Stark reviewed gene: FLNB: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Larsen syndrome, MIM#150250; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.235 | FGF3 | Zornitza Stark Marked gene: FGF3 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.235 | FGF3 | Zornitza Stark Gene: fgf3 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.235 | FGF3 | Zornitza Stark Phenotypes for gene: FGF3 were changed from to Deafness, congenital with inner ear agenesis, microtia, and microdontia, MIM#610706 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.234 | FGF3 | Zornitza Stark Mode of inheritance for gene: FGF3 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.233 | FGF3 | Zornitza Stark Classified gene: FGF3 as Red List (low evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.233 | FGF3 | Zornitza Stark Gene: fgf3 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.232 | FGF3 | Zornitza Stark reviewed gene: FGF3: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Deafness, congenital with inner ear agenesis, microtia, and microdontia, MIM#610706; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.232 | FDFT1 | Zornitza Stark Marked gene: FDFT1 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.232 | FDFT1 | Zornitza Stark Gene: fdft1 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.232 | FDFT1 | Zornitza Stark Classified gene: FDFT1 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.232 | FDFT1 | Zornitza Stark Gene: fdft1 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.231 | FDFT1 |
Zornitza Stark gene: FDFT1 was added gene: FDFT1 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert list Mode of inheritance for gene: FDFT1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: FDFT1 were set to 29909962 Phenotypes for gene: FDFT1 were set to Squalene synthase deficiency, MIM#618156 Review for gene: FDFT1 was set to GREEN Added comment: Three individuals from two unrelated families reported; metabolic disorder with good level of biochemical evidence to support gene-disease association.. Sources: Expert list |
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| Mendeliome v0.147 | FBXO31 | Zornitza Stark Marked gene: FBXO31 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v0.147 | FBXO31 | Zornitza Stark Gene: fbxo31 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v0.147 | FBXO31 |
Zornitza Stark gene: FBXO31 was added gene: FBXO31 was added to Mendeliome_VCGS. Sources: Expert list Mode of inheritance for gene: FBXO31 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: FBXO31 were set to 24623383 Phenotypes for gene: FBXO31 were set to Mental retardation, autosomal recessive 45, MIM#615979 Review for gene: FBXO31 was set to RED Added comment: Single consanguineous family reported with homozygous truncating variant, limited functional evidence. Sources: Expert list |
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| Intellectual disability syndromic and non-syndromic v0.230 | FBXO31 | Zornitza Stark Marked gene: FBXO31 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.230 | FBXO31 | Zornitza Stark Gene: fbxo31 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.230 | FBXO31 | Zornitza Stark Phenotypes for gene: FBXO31 were changed from to Mental retardation, autosomal recessive 45, MIM#615979 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.229 | FBXO31 | Zornitza Stark Publications for gene: FBXO31 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.228 | FBXO31 | Zornitza Stark Mode of inheritance for gene: FBXO31 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.227 | FBXO31 | Zornitza Stark Classified gene: FBXO31 as Red List (low evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.227 | FBXO31 | Zornitza Stark Gene: fbxo31 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.226 | FBXO31 | Zornitza Stark reviewed gene: FBXO31: Rating: RED; Mode of pathogenicity: None; Publications: 24623383; Phenotypes: Mental retardation, autosomal recessive 45, MIM#615979; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.226 | FBN1 | Zornitza Stark Marked gene: FBN1 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.226 | FBN1 | Zornitza Stark Gene: fbn1 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.226 | FBN1 | Zornitza Stark Phenotypes for gene: FBN1 were changed from to Marfan syndrome, MIM#154700; Geleophysic dysplasia 2, MIM#614185; Weill-Marchesani syndrome 2, dominant, MIM#608328 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.225 | FBN1 | Zornitza Stark Mode of inheritance for gene: FBN1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.224 | FBN1 | Zornitza Stark Classified gene: FBN1 as Red List (low evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.224 | FBN1 | Zornitza Stark Gene: fbn1 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.223 | FBN1 | Zornitza Stark reviewed gene: FBN1: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Marfan syndrome, MIM#154700, Geleophysic dysplasia 2, MIM#614185, Weill-Marchesani syndrome 2, dominant, MIM#608328; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.223 | FBLN5 | Zornitza Stark Marked gene: FBLN5 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.223 | FBLN5 | Zornitza Stark Gene: fbln5 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.223 | FBLN5 | Zornitza Stark Phenotypes for gene: FBLN5 were changed from to Cutis laxa, autosomal recessive, type IA, MIM#219100 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.222 | FBLN5 | Zornitza Stark Mode of inheritance for gene: FBLN5 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.221 | FBLN5 | Zornitza Stark Classified gene: FBLN5 as Red List (low evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.221 | FBLN5 | Zornitza Stark Gene: fbln5 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.220 | FBLN5 | Zornitza Stark reviewed gene: FBLN5: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Cutis laxa, autosomal recessive, type IA, MIM#219100; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.220 | FASTKD2 | Zornitza Stark Marked gene: FASTKD2 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.220 | FASTKD2 | Zornitza Stark Gene: fastkd2 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.220 | FASTKD2 | Zornitza Stark Phenotypes for gene: FASTKD2 were changed from to Mitochondrial complex IV deficiency, MIM#220110 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.219 | FASTKD2 | Zornitza Stark Publications for gene: FASTKD2 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.218 | FASTKD2 | Zornitza Stark Mode of inheritance for gene: FASTKD2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.217 | FASTKD2 | Zornitza Stark Classified gene: FASTKD2 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.217 | FASTKD2 | Zornitza Stark Gene: fastkd2 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.216 | FASTKD2 | Zornitza Stark reviewed gene: FASTKD2: Rating: AMBER; Mode of pathogenicity: None; Publications: 18771761, 28499982; Phenotypes: Mitochondrial complex IV deficiency, MIM#220110; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.216 | FARS2 | Zornitza Stark Phenotypes for gene: FARS2 were changed from to Combined oxidative phosphorylation deficiency 14, MIM#614946 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.215 | FARS2 | Zornitza Stark Publications for gene: FARS2 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.214 | FARS2 | Zornitza Stark Mode of inheritance for gene: FARS2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.213 | FARS2 | Zornitza Stark reviewed gene: FARS2: Rating: GREEN; Mode of pathogenicity: None; Publications: 22499341, 22833457; Phenotypes: Combined oxidative phosphorylation deficiency 14, MIM#614946; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.213 | FANCD2 | Zornitza Stark Marked gene: FANCD2 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.213 | FANCD2 | Zornitza Stark Gene: fancd2 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.213 | FANCD2 | Zornitza Stark Phenotypes for gene: FANCD2 were changed from to Fanconi anemia, complementation group D2, MIM# 227646 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.212 | FANCD2 | Zornitza Stark Mode of inheritance for gene: FANCD2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.211 | FANCD2 | Zornitza Stark reviewed gene: FANCD2: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Fanconi anemia, complementation group D2, MIM# 227646; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.211 | EDNRB | Zornitza Stark Marked gene: EDNRB as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.211 | EDNRB | Zornitza Stark Gene: ednrb has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.211 | EDNRB | Zornitza Stark Phenotypes for gene: EDNRB were changed from to Waardenburg syndrome, type 4A, MIM#277580 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.210 | EDNRB | Zornitza Stark Mode of inheritance for gene: EDNRB was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.209 | EDNRB | Zornitza Stark Classified gene: EDNRB as Red List (low evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.209 | EDNRB | Zornitza Stark Gene: ednrb has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.208 | FAAH2 | Zornitza Stark Marked gene: FAAH2 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.208 | FAAH2 | Zornitza Stark Gene: faah2 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.208 | FAAH2 | Zornitza Stark Phenotypes for gene: FAAH2 were changed from to Neuropsychiatric disorder | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.207 | FAAH2 | Zornitza Stark Publications for gene: FAAH2 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.206 | FAAH2 | Zornitza Stark Mode of inheritance for gene: FAAH2 was changed from Unknown to X-LINKED: hemizygous mutation in males, biallelic mutations in females | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.205 | FAAH2 | Zornitza Stark Classified gene: FAAH2 as Red List (low evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.205 | FAAH2 | Zornitza Stark Gene: faah2 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.204 | FAAH2 | Zornitza Stark reviewed gene: FAAH2: Rating: RED; Mode of pathogenicity: None; Publications: 25885783; Phenotypes: Neuropsychiatric disorder; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.204 | FA2H | Zornitza Stark Marked gene: FA2H as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.204 | FA2H | Zornitza Stark Gene: fa2h has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.204 | FA2H | Zornitza Stark Phenotypes for gene: FA2H were changed from to Spastic paraplegia 35, autosomal recessive, MIM#612319 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.203 | FA2H | Zornitza Stark Mode of inheritance for gene: FA2H was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.202 | FA2H | Zornitza Stark Classified gene: FA2H as Red List (low evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.202 | FA2H | Zornitza Stark Gene: fa2h has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.201 | FA2H | Zornitza Stark reviewed gene: FA2H: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Spastic paraplegia 35, autosomal recessive, MIM#612319; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Ciliary Dyskinesia v0.2 | CFAP57 | Sebastian Lunke Marked gene: CFAP57 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Ciliary Dyskinesia v0.2 | CFAP57 | Sebastian Lunke Gene: cfap57 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Ciliary Dyskinesia v0.2 | CFAP57 | Sebastian Lunke Classified gene: CFAP57 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Ciliary Dyskinesia v0.2 | CFAP57 | Sebastian Lunke Gene: cfap57 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Ciliary Dyskinesia v0.1 | CFAP57 | Sebastian Lunke edited their review of gene: CFAP57: Added comment: Gene not in PubMed but recently published in bioRxiv in single patient with hom nonsense variants and Primary ciliary dyskinesia. Some functional data provided.; Changed publications: bioRxiv 773028 doi: https://doi.org/10.1101/773028 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Ciliary Dyskinesia v0.1 | CFAP57 |
Sebastian Lunke gene: CFAP57 was added gene: CFAP57 was added to Ciliary dyskinesia_VCGS. Sources: Literature Mode of inheritance for gene: CFAP57 was set to BIALLELIC, autosomal or pseudoautosomal Review for gene: CFAP57 was set to AMBER Added comment: Sources: Literature |
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| Mendeliome v0.146 | CFAP57 | Sebastian Lunke Classified gene: CFAP57 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v0.146 | CFAP57 | Sebastian Lunke Gene: cfap57 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v0.145 | CFAP57 | Sebastian Lunke Marked gene: CFAP57 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v0.145 | CFAP57 | Sebastian Lunke Gene: cfap57 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v0.145 | CFAP57 | Sebastian Lunke reviewed gene: CFAP57: Rating: AMBER; Mode of pathogenicity: None; Publications: bioRxiv 773028, doi: https://doi.org/10.1101/773028; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Genetic Epilepsy v0.16 | EXT2 | Zornitza Stark Marked gene: EXT2 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Genetic Epilepsy v0.16 | EXT2 | Zornitza Stark Gene: ext2 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Genetic Epilepsy v0.16 | EXT2 | Zornitza Stark Classified gene: EXT2 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Genetic Epilepsy v0.16 | EXT2 | Zornitza Stark Gene: ext2 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Genetic Epilepsy v0.15 | EXT2 |
Zornitza Stark gene: EXT2 was added gene: EXT2 was added to Genetic Epilepsy_AustralianGenomics_VCGS. Sources: Expert Review Mode of inheritance for gene: EXT2 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: EXT2 were set to Seizures, scoliosis, and macrocephaly syndrome, MIM#616682 Review for gene: EXT2 was set to GREEN Added comment: Bi-alllelic missense variants cause a syndromic ID condition, seizures are a prominent feature. Note heterozygous variants (mostly causing premature termination) cause multiple exostoses. Sources: Expert Review |
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| Intellectual disability syndromic and non-syndromic v0.201 | EXT2 | Zornitza Stark Marked gene: EXT2 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.201 | EXT2 | Zornitza Stark Gene: ext2 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.201 | EXT2 | Zornitza Stark Phenotypes for gene: EXT2 were changed from to Seizures, scoliosis, and macrocephaly syndrome, MIM#616682 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.200 | EXT2 | Zornitza Stark Mode of inheritance for gene: EXT2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.199 | EXT2 | Zornitza Stark reviewed gene: EXT2: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Seizures, scoliosis, and macrocephaly syndrome, MIM#616682; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.199 | EXOSC8 | Zornitza Stark Marked gene: EXOSC8 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.199 | EXOSC8 | Zornitza Stark Gene: exosc8 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.199 | EXOSC8 | Zornitza Stark Phenotypes for gene: EXOSC8 were changed from to Pontocerebellar hypoplasia, type 1C, MIM#616081 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.198 | EXOSC8 | Zornitza Stark Publications for gene: EXOSC8 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.197 | EXOSC8 | Zornitza Stark Mode of inheritance for gene: EXOSC8 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.196 | EXOSC8 | Zornitza Stark reviewed gene: EXOSC8: Rating: GREEN; Mode of pathogenicity: None; Publications: 24989451, 29656927; Phenotypes: Pontocerebellar hypoplasia, type 1C, MIM#616081; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v0.145 | EXOSC2 | Zornitza Stark Marked gene: EXOSC2 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v0.145 | EXOSC2 | Zornitza Stark Gene: exosc2 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v0.145 | EXOSC2 | Zornitza Stark Phenotypes for gene: EXOSC2 were changed from to Short stature, hearing loss, retinitis pigmentosa, and distinctive facies, MIM# 617763 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v0.144 | EXOSC2 | Zornitza Stark Publications for gene: EXOSC2 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v0.143 | EXOSC2 | Zornitza Stark Mode of inheritance for gene: EXOSC2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v0.142 | EXOSC2 | Zornitza Stark Classified gene: EXOSC2 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v0.142 | EXOSC2 | Zornitza Stark Gene: exosc2 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.196 | EXOSC2 | Zornitza Stark Marked gene: EXOSC2 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.196 | EXOSC2 | Zornitza Stark Gene: exosc2 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.196 | EXOSC2 | Zornitza Stark Classified gene: EXOSC2 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.196 | EXOSC2 | Zornitza Stark Gene: exosc2 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.195 | EXOSC2 |
Zornitza Stark gene: EXOSC2 was added gene: EXOSC2 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert list Mode of inheritance for gene: EXOSC2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: EXOSC2 were set to 26843489; 31628467 Phenotypes for gene: EXOSC2 were set to Short stature, hearing loss, retinitis pigmentosa, and distinctive facies, MIM# 617763 Review for gene: EXOSC2 was set to GREEN Added comment: Three individuals from two families, but founder mutation, some functional data. Sources: Expert list |
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| Intellectual disability syndromic and non-syndromic v0.194 | ETFDH | Zornitza Stark Phenotypes for gene: ETFDH were changed from to Glutaric acidemia IIC, MIM#231680 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.193 | ETFDH | Zornitza Stark Mode of inheritance for gene: ETFDH was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.192 | ETFDH | Zornitza Stark reviewed gene: ETFDH: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Glutaric acidemia IIC, MIM#231680; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.192 | ETFB | Zornitza Stark Marked gene: ETFB as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.192 | ETFB | Zornitza Stark Gene: etfb has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.192 | ETFB | Zornitza Stark Phenotypes for gene: ETFB were changed from to Glutaric acidemia IIB, MIM#231680 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.191 | ETFB | Zornitza Stark Mode of inheritance for gene: ETFB was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.190 | ETFB | Zornitza Stark reviewed gene: ETFB: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Glutaric acidemia IIB, MIM#231680; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.190 | ETFA | Zornitza Stark Phenotypes for gene: ETFA were changed from to Glutaric acidemia IIA, MIM#231680 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.189 | ETFA | Zornitza Stark Mode of inheritance for gene: ETFA was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.188 | ETFA | Zornitza Stark reviewed gene: ETFA: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Glutaric acidemia IIA, MIM#231680; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.188 | EVC2 | Zornitza Stark Marked gene: EVC2 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.188 | EVC2 | Zornitza Stark Gene: evc2 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.188 | EVC2 | Zornitza Stark Phenotypes for gene: EVC2 were changed from to Ellis-van Creveld syndrome, MIM#225500 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.187 | EVC2 | Zornitza Stark Mode of inheritance for gene: EVC2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.186 | EVC2 | Zornitza Stark Classified gene: EVC2 as Red List (low evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.186 | EVC2 | Zornitza Stark Gene: evc2 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.185 | EVC2 | Zornitza Stark reviewed gene: EVC2: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Ellis-van Creveld syndrome, MIM#225500; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.185 | EVC | Zornitza Stark Marked gene: EVC as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.185 | EVC | Zornitza Stark Gene: evc has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.185 | EVC | Zornitza Stark Phenotypes for gene: EVC were changed from to Ellis-van Creveld syndrome, MIM#225500 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.184 | EVC | Zornitza Stark Mode of inheritance for gene: EVC was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.183 | EVC | Zornitza Stark Classified gene: EVC as Red List (low evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.183 | EVC | Zornitza Stark Gene: evc has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.182 | EVC | Zornitza Stark reviewed gene: EVC: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Ellis-van Creveld syndrome, MIM#225500; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.182 | ERMARD | Zornitza Stark Marked gene: ERMARD as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.182 | ERMARD | Zornitza Stark Gene: ermard has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.182 | ERMARD | Zornitza Stark Phenotypes for gene: ERMARD were changed from to Periventricular nodular heterotopia 6, MIM#615544 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.181 | ERMARD | Zornitza Stark Publications for gene: ERMARD were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.180 | ERMARD | Zornitza Stark Mode of inheritance for gene: ERMARD was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.179 | ERMARD | Zornitza Stark Classified gene: ERMARD as Red List (low evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.179 | ERMARD | Zornitza Stark Gene: ermard has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v0.140 | ERMARD | Zornitza Stark Marked gene: ERMARD as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v0.140 | ERMARD | Zornitza Stark Added comment: Comment when marking as ready: Single affected individual described in heterozygous missense in this gene; rest of evidence is based on cytogenetic data. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v0.140 | ERMARD | Zornitza Stark Gene: ermard has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v0.140 | ERMARD | Zornitza Stark Phenotypes for gene: ERMARD were changed from to Periventricular nodular heterotopia 6, MIM#615544 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v0.139 | ERMARD | Zornitza Stark Publications for gene: ERMARD were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v0.138 | ERMARD | Zornitza Stark Mode of inheritance for gene: ERMARD was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v0.137 | ERMARD | Zornitza Stark Classified gene: ERMARD as Red List (low evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v0.137 | ERMARD | Zornitza Stark Gene: ermard has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v0.136 | ERMARD | Zornitza Stark reviewed gene: ERMARD: Rating: RED; Mode of pathogenicity: None; Publications: 24056535, 27087860; Phenotypes: Periventricular nodular heterotopia 6, MIM#615544; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Callosome v0.27 | ERMARD | Zornitza Stark Marked gene: ERMARD as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Callosome v0.27 | ERMARD | Zornitza Stark Gene: ermard has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Callosome v0.27 | ERMARD | Zornitza Stark Phenotypes for gene: ERMARD were changed from to Periventricular nodular heterotopia 6, MIM#615544 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Callosome v0.26 | ERMARD | Zornitza Stark Publications for gene: ERMARD were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Callosome v0.25 | ERMARD | Zornitza Stark Mode of inheritance for gene: ERMARD was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Callosome v0.24 | ERMARD | Zornitza Stark Classified gene: ERMARD as Red List (low evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Callosome v0.24 | ERMARD | Zornitza Stark Gene: ermard has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Periventricular Grey Matter Heterotopia v0.3 | ERMARD | Zornitza Stark Marked gene: ERMARD as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Periventricular Grey Matter Heterotopia v0.3 | ERMARD | Zornitza Stark Gene: ermard has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Periventricular Grey Matter Heterotopia v0.3 | ERMARD | Zornitza Stark Phenotypes for gene: ERMARD were changed from to Periventricular nodular heterotopia 6, MIM#615544 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Periventricular Grey Matter Heterotopia v0.3 | ERMARD | Zornitza Stark Classified gene: ERMARD as Red List (low evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Periventricular Grey Matter Heterotopia v0.3 | ERMARD | Zornitza Stark Gene: ermard has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Periventricular Grey Matter Heterotopia v0.2 | ERMARD | Zornitza Stark Publications for gene: ERMARD were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Periventricular Grey Matter Heterotopia v0.2 | ERMARD | Zornitza Stark Mode of inheritance for gene: ERMARD was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Periventricular Grey Matter Heterotopia v0.2 | ERMARD | Zornitza Stark Classified gene: ERMARD as Red List (low evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Periventricular Grey Matter Heterotopia v0.2 | ERMARD | Zornitza Stark Gene: ermard has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Periventricular Grey Matter Heterotopia v0.1 | ERMARD | Zornitza Stark reviewed gene: ERMARD: Rating: RED; Mode of pathogenicity: None; Publications: 24056535, 27087860; Phenotypes: Periventricular nodular heterotopia 6, MIM#615544; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.178 | ERMARD | Zornitza Stark reviewed gene: ERMARD: Rating: RED; Mode of pathogenicity: None; Publications: 24056535, 27087860; Phenotypes: Periventricular nodular heterotopia 6, MIM#615544; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.178 | ERLIN2 | Zornitza Stark Phenotypes for gene: ERLIN2 were changed from to Spastic paraplegia 18, autosomal recessive, MIM#611225 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.177 | ERLIN2 | Zornitza Stark Mode of inheritance for gene: ERLIN2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.176 | ERLIN2 | Zornitza Stark reviewed gene: ERLIN2: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Spastic paraplegia 18, autosomal recessive, MIM#611225; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.176 | ERF | Zornitza Stark Marked gene: ERF as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.176 | ERF | Zornitza Stark Gene: erf has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.176 | ERF | Zornitza Stark Phenotypes for gene: ERF were changed from to Chitayat syndrome, MIM#617180; Craniosynostosis 4, MIM#600775 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.175 | ERF | Zornitza Stark Mode of inheritance for gene: ERF was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.174 | ERF | Zornitza Stark Classified gene: ERF as Red List (low evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.174 | ERF | Zornitza Stark Gene: erf has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.173 | ERF | Zornitza Stark reviewed gene: ERF: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Chitayat syndrome, MIM#617180, Craniosynostosis 4, MIM#600775; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.173 | ERCC4 | Zornitza Stark Marked gene: ERCC4 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.173 | ERCC4 | Zornitza Stark Gene: ercc4 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.173 | ERCC4 | Zornitza Stark Phenotypes for gene: ERCC4 were changed from to Xeroderma pigmentosum, group F, MIM#278760; XFE progeroid syndrome, MIM# 610965 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.172 | ERCC4 | Zornitza Stark Mode of inheritance for gene: ERCC4 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.171 | ERCC4 | Zornitza Stark Classified gene: ERCC4 as Red List (low evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.171 | ERCC4 | Zornitza Stark Gene: ercc4 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.170 | ERCC4 | Zornitza Stark reviewed gene: ERCC4: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Xeroderma pigmentosum, group F, MIM#278760, XFE progeroid syndrome, MIM# 610965; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.170 | EPM2A | Zornitza Stark Marked gene: EPM2A as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.170 | EPM2A | Zornitza Stark Gene: epm2a has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.170 | EPM2A | Zornitza Stark Phenotypes for gene: EPM2A were changed from to Epilepsy, progressive myoclonic 2A (Lafora), MIM#254780 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.169 | EPM2A | Zornitza Stark Mode of inheritance for gene: EPM2A was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.168 | EPM2A | Zornitza Stark Classified gene: EPM2A as Red List (low evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.168 | EPM2A | Zornitza Stark Gene: epm2a has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.167 | EPM2A | Zornitza Stark edited their review of gene: EPM2A: Changed rating: RED | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.167 | EPM2A | Zornitza Stark reviewed gene: EPM2A: Rating: ; Mode of pathogenicity: None; Publications: ; Phenotypes: Epilepsy, progressive myoclonic 2A (Lafora), MIM#254780; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Callosome v0.22 | EOMES | Zornitza Stark Marked gene: EOMES as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Callosome v0.22 | EOMES | Zornitza Stark Gene: eomes has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Callosome v0.22 | EOMES | Zornitza Stark Phenotypes for gene: EOMES were changed from to Microcephaly | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Callosome v0.21 | EOMES | Zornitza Stark Publications for gene: EOMES were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Callosome v0.20 | EOMES | Zornitza Stark Mode of inheritance for gene: EOMES was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Callosome v0.19 | EOMES | Zornitza Stark Classified gene: EOMES as Red List (low evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Callosome v0.19 | EOMES | Zornitza Stark Gene: eomes has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v0.136 | EOMES | Zornitza Stark Marked gene: EOMES as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v0.136 | EOMES | Zornitza Stark Gene: eomes has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v0.136 | EOMES | Zornitza Stark Phenotypes for gene: EOMES were changed from to Microcephaly | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v0.135 | EOMES | Zornitza Stark Publications for gene: EOMES were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v0.134 | EOMES | Zornitza Stark Mode of inheritance for gene: EOMES was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v0.133 | EOMES | Zornitza Stark Classified gene: EOMES as Red List (low evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v0.133 | EOMES | Zornitza Stark Gene: eomes has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Polymicrogyria and Schizencephaly v0.4 | EOMES | Zornitza Stark Marked gene: EOMES as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Polymicrogyria and Schizencephaly v0.4 | EOMES | Zornitza Stark Gene: eomes has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Polymicrogyria and Schizencephaly v0.4 | EOMES | Zornitza Stark Phenotypes for gene: EOMES were changed from to Microcephaly | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Polymicrogyria and Schizencephaly v0.3 | EOMES | Zornitza Stark Mode of inheritance for gene: EOMES was changed from BIALLELIC, autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Polymicrogyria and Schizencephaly v0.3 | EOMES | Zornitza Stark Classified gene: EOMES as Red List (low evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Polymicrogyria and Schizencephaly v0.3 | EOMES | Zornitza Stark Gene: eomes has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Polymicrogyria and Schizencephaly v0.2 | EOMES | Zornitza Stark Classified gene: EOMES as Red List (low evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Polymicrogyria and Schizencephaly v0.2 | EOMES | Zornitza Stark Gene: eomes has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Polymicrogyria and Schizencephaly v0.2 | EOMES | Zornitza Stark Classified gene: EOMES as Red List (low evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Polymicrogyria and Schizencephaly v0.2 | EOMES | Zornitza Stark Gene: eomes has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Polymicrogyria and Schizencephaly v0.1 | EOMES | Zornitza Stark Mode of inheritance for gene: EOMES was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Polymicrogyria and Schizencephaly v0.1 | EOMES | Zornitza Stark Publications for gene: EOMES were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Polymicrogyria and Schizencephaly v0.1 | EOMES | Zornitza Stark Classified gene: EOMES as Red List (low evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Polymicrogyria and Schizencephaly v0.1 | EOMES | Zornitza Stark Gene: eomes has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Polymicrogyria and Schizencephaly v0.0 | EOMES | Zornitza Stark reviewed gene: EOMES: Rating: RED; Mode of pathogenicity: None; Publications: 17353897; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.167 | EOMES | Zornitza Stark Marked gene: EOMES as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.167 | EOMES | Zornitza Stark Gene: eomes has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.167 | EOMES | Zornitza Stark Phenotypes for gene: EOMES were changed from to Microcephaly | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.166 | EOMES | Zornitza Stark Publications for gene: EOMES were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.165 | EOMES | Zornitza Stark Mode of inheritance for gene: EOMES was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.164 | EOMES | Zornitza Stark Classified gene: EOMES as Red List (low evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.164 | EOMES | Zornitza Stark Gene: eomes has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.163 | EOMES | Zornitza Stark reviewed gene: EOMES: Rating: RED; Mode of pathogenicity: None; Publications: 17353897; Phenotypes: Microcephaly; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.163 | EOGT | Zornitza Stark Marked gene: EOGT as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.163 | EOGT | Zornitza Stark Gene: eogt has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.163 | EOGT | Zornitza Stark Phenotypes for gene: EOGT were changed from to Adams-Oliver syndrome 4, MIM#615297 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.162 | EOGT | Zornitza Stark Publications for gene: EOGT were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.161 | EOGT | Zornitza Stark Mode of inheritance for gene: EOGT was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.160 | EOGT | Zornitza Stark Classified gene: EOGT as Red List (low evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.160 | EOGT | Zornitza Stark Gene: eogt has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.159 | EOGT | Zornitza Stark reviewed gene: EOGT: Rating: RED; Mode of pathogenicity: None; Publications: 31368252; Phenotypes: Adams-Oliver syndrome 4, MIM#615297; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.159 | EIF2B5 | Zornitza Stark Phenotypes for gene: EIF2B5 were changed from to Leukoencephalopathy with vanishing white matter, MIM#603896 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.158 | EIF2B5 | Zornitza Stark Mode of inheritance for gene: EIF2B5 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.157 | EIF2B5 | Zornitza Stark Classified gene: EIF2B5 as Red List (low evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.157 | EIF2B5 | Zornitza Stark Gene: eif2b5 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.156 | EIF2B5 | Zornitza Stark reviewed gene: EIF2B5: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Leukoencephalopathy with vanishing white matter, MIM#603896; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.156 | EIF2B4 | Zornitza Stark Marked gene: EIF2B4 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.156 | EIF2B4 | Zornitza Stark Gene: eif2b4 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.156 | EIF2B4 | Zornitza Stark Phenotypes for gene: EIF2B4 were changed from to Leukoencephalopathy with vanishing white matter, MIM#603896 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.155 | EIF2B4 | Zornitza Stark Mode of inheritance for gene: EIF2B4 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.154 | EIF2B4 | Zornitza Stark Classified gene: EIF2B4 as Red List (low evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.154 | EIF2B4 | Zornitza Stark Gene: eif2b4 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.153 | EIF2B4 | Zornitza Stark reviewed gene: EIF2B4: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Leukoencephalopathy with vanishing white matter, MIM#603896; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.153 | EIF2B3 | Zornitza Stark Marked gene: EIF2B3 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.153 | EIF2B3 | Zornitza Stark Gene: eif2b3 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.153 | EIF2B3 | Zornitza Stark Phenotypes for gene: EIF2B3 were changed from to Leukoencephalopathy with vanishing white matter, MIM#603896 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.152 | EIF2B3 | Zornitza Stark Mode of inheritance for gene: EIF2B3 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.151 | EIF2B3 | Zornitza Stark Classified gene: EIF2B3 as Red List (low evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.151 | EIF2B3 | Zornitza Stark Gene: eif2b3 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.150 | EIF2B3 | Zornitza Stark reviewed gene: EIF2B3: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Leukoencephalopathy with vanishing white matter, MIM#603896; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.150 | EIF2B2 | Zornitza Stark Marked gene: EIF2B2 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.150 | EIF2B2 | Zornitza Stark Gene: eif2b2 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.150 | EIF2B2 | Zornitza Stark Phenotypes for gene: EIF2B2 were changed from to Leukoencephalopathy with vanishing white matter, MIM#603896 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.149 | EIF2B2 | Zornitza Stark Mode of inheritance for gene: EIF2B2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.148 | EIF2B2 | Zornitza Stark Classified gene: EIF2B2 as Red List (low evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.148 | EIF2B2 | Zornitza Stark Gene: eif2b2 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.147 | EIF2B2 | Zornitza Stark reviewed gene: EIF2B2: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Leukoencephalopathy with vanishing white matter, MIM#603896; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.147 | EIF2B1 | Zornitza Stark Marked gene: EIF2B1 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.147 | EIF2B1 | Zornitza Stark Gene: eif2b1 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.147 | EIF2B1 | Zornitza Stark Phenotypes for gene: EIF2B1 were changed from to Leukoencephalopathy with vanishing white matter, MIM#603896 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.146 | EIF2B1 | Zornitza Stark Mode of inheritance for gene: EIF2B1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.145 | EIF2B1 | Zornitza Stark Classified gene: EIF2B1 as Red List (low evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.145 | EIF2B1 | Zornitza Stark Gene: eif2b1 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.144 | EIF2B1 | Zornitza Stark reviewed gene: EIF2B1: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Leukoencephalopathy with vanishing white matter, MIM#603896; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.144 | EFNB2 | Zornitza Stark Marked gene: EFNB2 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.144 | EFNB2 | Zornitza Stark Gene: efnb2 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.144 | EFNB2 | Zornitza Stark Phenotypes for gene: EFNB2 were changed from to Intellectual disability and congenital abnormalities | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.143 | EFNB2 | Zornitza Stark Publications for gene: EFNB2 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.142 | EFNB2 | Zornitza Stark Mode of inheritance for gene: EFNB2 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.141 | EFNB2 | Zornitza Stark Classified gene: EFNB2 as Red List (low evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.141 | EFNB2 | Zornitza Stark Gene: efnb2 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.140 | EFNB2 | Zornitza Stark reviewed gene: EFNB2: Rating: RED; Mode of pathogenicity: None; Publications: 29508392; Phenotypes: Intellectual disability and congenital abnormalities; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.140 | EDNRB | Zornitza Stark reviewed gene: EDNRB: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Waardenburg syndrome, type 4A, MIM#277580; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.140 | EARS2 | Zornitza Stark Marked gene: EARS2 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.140 | EARS2 | Zornitza Stark Gene: ears2 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.140 | EARS2 | Zornitza Stark Phenotypes for gene: EARS2 were changed from to Combined oxidative phosphorylation deficiency 12, MIM#614924 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.139 | EARS2 | Zornitza Stark Publications for gene: EARS2 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.138 | EARS2 | Zornitza Stark Mode of inheritance for gene: EARS2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.137 | EARS2 | Zornitza Stark reviewed gene: EARS2: Rating: GREEN; Mode of pathogenicity: None; Publications: 22492562; Phenotypes: Combined oxidative phosphorylation deficiency 12, MIM#614924; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.137 | CLIP2 | Zornitza Stark Marked gene: CLIP2 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.137 | CLIP2 | Zornitza Stark Gene: clip2 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.137 | CLIP2 | Zornitza Stark Phenotypes for gene: CLIP2 were changed from Intellectual disability; SCA to Intellectual disability | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.136 | CLIP2 | Zornitza Stark Phenotypes for gene: CLIP2 were changed from to Intellectual disability; SCA | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.135 | CLIP2 | Zornitza Stark Publications for gene: CLIP2 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.134 | CLIP2 | Zornitza Stark Mode of inheritance for gene: CLIP2 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.133 | CLIP2 | Zornitza Stark Classified gene: CLIP2 as Red List (low evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.133 | CLIP2 | Zornitza Stark Gene: clip2 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.132 | DYNC2H1 | Zornitza Stark Marked gene: DYNC2H1 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.132 | DYNC2H1 | Zornitza Stark Gene: dync2h1 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.132 | DYNC2H1 | Zornitza Stark Phenotypes for gene: DYNC2H1 were changed from to Short-rib thoracic dysplasia 3 with or without polydactyly, MIM#613091 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.131 | DYNC2H1 | Zornitza Stark Mode of inheritance for gene: DYNC2H1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.130 | DYNC2H1 | Zornitza Stark Classified gene: DYNC2H1 as Red List (low evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.130 | DYNC2H1 | Zornitza Stark Gene: dync2h1 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.129 | DYNC2H1 | Zornitza Stark reviewed gene: DYNC2H1: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Short-rib thoracic dysplasia 3 with or without polydactyly, MIM#613091; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.129 | DYM | Zornitza Stark Marked gene: DYM as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.129 | DYM | Zornitza Stark Gene: dym has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.129 | DYM | Zornitza Stark Phenotypes for gene: DYM were changed from to Dyggve-Melchior-Clausen disease, MIM#223800 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.128 | DYM | Zornitza Stark Mode of inheritance for gene: DYM was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.127 | DYM | Zornitza Stark reviewed gene: DYM: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Dyggve-Melchior-Clausen disease, MIM#223800; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.127 | DUOXA2 | Zornitza Stark Marked gene: DUOXA2 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.127 | DUOXA2 | Zornitza Stark Gene: duoxa2 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.127 | DUOXA2 | Zornitza Stark Phenotypes for gene: DUOXA2 were changed from to Thyroid dyshormonogenesis 5, MIM#274900 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.126 | DUOXA2 | Zornitza Stark Mode of inheritance for gene: DUOXA2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.125 | DUOXA2 | Zornitza Stark Classified gene: DUOXA2 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.125 | DUOXA2 | Zornitza Stark Gene: duoxa2 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.124 | DUOXA2 | Zornitza Stark reviewed gene: DUOXA2: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: Thyroid dyshormonogenesis 5, MIM#274900; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.124 | DSE | Zornitza Stark Marked gene: DSE as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.124 | DSE | Zornitza Stark Gene: dse has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.124 | DSE | Zornitza Stark Phenotypes for gene: DSE were changed from to Ehlers-Danlos syndrome, musculocontractural type 2, MIM#615539 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.123 | DSE | Zornitza Stark Mode of inheritance for gene: DSE was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.122 | DSE | Zornitza Stark Classified gene: DSE as Red List (low evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.122 | DSE | Zornitza Stark Gene: dse has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.121 | DSE | Zornitza Stark reviewed gene: DSE: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Ehlers-Danlos syndrome, musculocontractural type 2, MIM#615539; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v0.131 | DPYS | Zornitza Stark Marked gene: DPYS as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v0.131 | DPYS | Zornitza Stark Gene: dpys has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v0.131 | DPYS | Zornitza Stark Phenotypes for gene: DPYS were changed from to Dihydropyrimidinuria, MIM#222748 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v0.130 | DPYS | Zornitza Stark Mode of inheritance for gene: DPYS was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v0.129 | DPYS | Zornitza Stark reviewed gene: DPYS: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Dihydropyrimidinuria, MIM#222748; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.121 | DPYS | Zornitza Stark Marked gene: DPYS as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.121 | DPYS | Zornitza Stark Gene: dpys has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.121 | DPYS | Zornitza Stark Phenotypes for gene: DPYS were changed from to Dihydropyrimidinuria, MIM#222748 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.120 | DPYS | Zornitza Stark Mode of inheritance for gene: DPYS was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.119 | DPYS | Zornitza Stark reviewed gene: DPYS: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Dihydropyrimidinuria, MIM#222748; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v0.129 | DPP10 | Zornitza Stark edited their review of gene: DPP10: Added comment: Link to autism based on CNV data.; Changed publications: 28670437 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.119 | DPP10 | Zornitza Stark Marked gene: DPP10 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.119 | DPP10 | Zornitza Stark Gene: dpp10 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.119 | DPP10 | Zornitza Stark Publications for gene: DPP10 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.118 | DPP10 | Zornitza Stark Classified gene: DPP10 as Red List (low evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.118 | DPP10 | Zornitza Stark Gene: dpp10 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.117 | DPP10 | Zornitza Stark reviewed gene: DPP10: Rating: RED; Mode of pathogenicity: None; Publications: 28670437; Phenotypes: ; Mode of inheritance: None | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.117 | DPH1 | Zornitza Stark Marked gene: DPH1 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.117 | DPH1 | Zornitza Stark Gene: dph1 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.117 | DPH1 | Zornitza Stark Phenotypes for gene: DPH1 were changed from to Developmental delay with short stature, dysmorphic facial features, and sparse hair, MIM#616901 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.116 | DPH1 | Zornitza Stark Publications for gene: DPH1 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.115 | DPH1 | Zornitza Stark Mode of inheritance for gene: DPH1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.114 | DPH1 | Zornitza Stark reviewed gene: DPH1: Rating: GREEN; Mode of pathogenicity: None; Publications: 25558065, 26220823; Phenotypes: Developmental delay with short stature, dysmorphic facial features, and sparse hair, MIM#616901; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.114 | DOK7 | Zornitza Stark Marked gene: DOK7 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.114 | DOK7 | Zornitza Stark Gene: dok7 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.114 | DOK7 | Zornitza Stark Phenotypes for gene: DOK7 were changed from to Myasthenic syndrome, congenital, 10, MIM#254300 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.113 | DOK7 | Zornitza Stark Mode of inheritance for gene: DOK7 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.112 | DOK7 | Zornitza Stark Classified gene: DOK7 as Red List (low evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.112 | DOK7 | Zornitza Stark Gene: dok7 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.111 | DOK7 | Zornitza Stark reviewed gene: DOK7: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Myasthenic syndrome, congenital, 10, MIM#254300; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.111 | DOCK6 | Zornitza Stark Marked gene: DOCK6 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.111 | DOCK6 | Zornitza Stark Gene: dock6 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.111 | DOCK6 | Zornitza Stark Phenotypes for gene: DOCK6 were changed from to Adams-Oliver syndrome 2, MIM#614219 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.110 | DOCK6 | Zornitza Stark Mode of inheritance for gene: DOCK6 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.109 | DOCK6 | Zornitza Stark reviewed gene: DOCK6: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Adams-Oliver syndrome 2, MIM#614219; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.109 | DOCK4 | Zornitza Stark Marked gene: DOCK4 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.109 | DOCK4 | Zornitza Stark Gene: dock4 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.109 | DOCK4 | Zornitza Stark Classified gene: DOCK4 as Red List (low evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.109 | DOCK4 | Zornitza Stark Gene: dock4 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.108 | DOCK4 | Zornitza Stark reviewed gene: DOCK4: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.108 | DNM1L | Zornitza Stark Marked gene: DNM1L as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.108 | DNM1L | Zornitza Stark Gene: dnm1l has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.108 | DNM1L | Zornitza Stark Phenotypes for gene: DNM1L were changed from to Encephalopathy, lethal, due to defective mitochondrial peroxisomal fission 1, MIM#614388 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.107 | DNM1L | Zornitza Stark Mode of inheritance for gene: DNM1L was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.106 | DNM1L | Zornitza Stark reviewed gene: DNM1L: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Encephalopathy, lethal, due to defective mitochondrial peroxisomal fission 1, MIM#614388; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.106 | DNAJC6 | Zornitza Stark Marked gene: DNAJC6 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.106 | DNAJC6 | Zornitza Stark Gene: dnajc6 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.106 | DNAJC6 | Zornitza Stark Phenotypes for gene: DNAJC6 were changed from to Parkinson disease 19a, juvenile-onset, MIM#615528 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.105 | DNAJC6 | Zornitza Stark Mode of inheritance for gene: DNAJC6 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.104 | DNAJC6 | Zornitza Stark Classified gene: DNAJC6 as Red List (low evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.104 | DNAJC6 | Zornitza Stark Gene: dnajc6 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.103 | DNAJC6 | Zornitza Stark reviewed gene: DNAJC6: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Parkinson disease 19a, juvenile-onset, MIM#615528; Mode of inheritance: None | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v0.129 | DNAJC12 | Zornitza Stark Marked gene: DNAJC12 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v0.129 | DNAJC12 | Zornitza Stark Gene: dnajc12 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v0.129 | DNAJC12 | Zornitza Stark Phenotypes for gene: DNAJC12 were changed from to Hyperphenylalaninemia, mild, non-BH4-deficient, MIM#617384 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v0.128 | DNAJC12 | Zornitza Stark Mode of inheritance for gene: DNAJC12 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.103 | DNAJC12 | Zornitza Stark Marked gene: DNAJC12 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.103 | DNAJC12 | Zornitza Stark Gene: dnajc12 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.103 | DNAJC12 | Zornitza Stark Classified gene: DNAJC12 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.103 | DNAJC12 | Zornitza Stark Gene: dnajc12 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.102 | DNAJC12 |
Zornitza Stark gene: DNAJC12 was added gene: DNAJC12 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert list Mode of inheritance for gene: DNAJC12 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: DNAJC12 were set to Hyperphenylalaninemia, mild, non-BH4-deficient, MIM#617384 Review for gene: DNAJC12 was set to GREEN Added comment: Highly variable neurological phenotype, including ID, dystonia, parkinsonism. Treatable. Sources: Expert list |
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| Early-onset Parkinson disease v0.6 | DNAJC12 | Zornitza Stark Marked gene: DNAJC12 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Early-onset Parkinson disease v0.6 | DNAJC12 | Zornitza Stark Gene: dnajc12 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Early-onset Parkinson disease v0.6 | DNAJC12 | Zornitza Stark Classified gene: DNAJC12 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Early-onset Parkinson disease v0.6 | DNAJC12 | Zornitza Stark Gene: dnajc12 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Early-onset Parkinson disease v0.5 | DNAJC12 |
Zornitza Stark gene: DNAJC12 was added gene: DNAJC12 was added to Early onset Parkinson disease_MelbourneGenomics_VCGS. Sources: Expert Review Mode of inheritance for gene: DNAJC12 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: DNAJC12 were set to Hyperphenylalaninemia, mild, non-BH4-deficient, MIM#617384 Review for gene: DNAJC12 was set to GREEN Added comment: Highly variable neurological phenotype, including ID, dystonia, parkinsonism. Sources: Expert Review |
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| Intellectual disability syndromic and non-syndromic v0.101 | DMPK | Zornitza Stark Marked gene: DMPK as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.101 | DMPK | Zornitza Stark Gene: dmpk has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.101 | DMPK | Zornitza Stark Phenotypes for gene: DMPK were changed from to Myotonic dystrophy 1, MIM#160900 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.100 | DMPK | Zornitza Stark Mode of inheritance for gene: DMPK was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.99 | DMPK | Zornitza Stark reviewed gene: DMPK: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Myotonic dystrophy 1, MIM#160900; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.99 | DLK1 | Zornitza Stark Marked gene: DLK1 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.99 | DLK1 | Zornitza Stark Gene: dlk1 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.99 | DLK1 | Zornitza Stark Classified gene: DLK1 as Red List (low evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.99 | DLK1 | Zornitza Stark Gene: dlk1 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.98 | DLK1 | Zornitza Stark reviewed gene: DLK1: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.98 | DLGAP2 | Zornitza Stark Marked gene: DLGAP2 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.98 | DLGAP2 | Zornitza Stark Gene: dlgap2 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.98 | DLGAP2 | Zornitza Stark Classified gene: DLGAP2 as Red List (low evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.98 | DLGAP2 | Zornitza Stark Gene: dlgap2 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.97 | DLGAP2 | Zornitza Stark reviewed gene: DLGAP2: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v0.126 | DLG4 | Zornitza Stark Marked gene: DLG4 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v0.126 | DLG4 | Zornitza Stark Gene: dlg4 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v0.126 | DLG4 | Zornitza Stark Classified gene: DLG4 as Red List (low evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v0.126 | DLG4 | Zornitza Stark Gene: dlg4 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v0.125 | DLG4 | Zornitza Stark reviewed gene: DLG4: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.97 | DLG4 | Zornitza Stark Marked gene: DLG4 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.97 | DLG4 | Zornitza Stark Gene: dlg4 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.97 | DLG4 | Zornitza Stark Classified gene: DLG4 as Red List (low evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.97 | DLG4 | Zornitza Stark Gene: dlg4 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.96 | DLG4 | Zornitza Stark reviewed gene: DLG4: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.96 | DLAT | Zornitza Stark Marked gene: DLAT as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.96 | DLAT | Zornitza Stark Gene: dlat has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.96 | DLAT | Zornitza Stark Phenotypes for gene: DLAT were changed from to Pyruvate dehydrogenase E2 deficiency, MIM#245348 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.95 | DLAT | Zornitza Stark Mode of inheritance for gene: DLAT was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.94 | DLAT | Zornitza Stark reviewed gene: DLAT: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Pyruvate dehydrogenase E2 deficiency, MIM#245348; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.94 | DISP1 | Zornitza Stark Marked gene: DISP1 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.94 | DISP1 | Zornitza Stark Gene: disp1 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.94 | DISP1 | Zornitza Stark Phenotypes for gene: DISP1 were changed from to Holoprosencephaly | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.93 | DISP1 | Zornitza Stark Publications for gene: DISP1 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.92 | DISP1 | Zornitza Stark Classified gene: DISP1 as Red List (low evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.92 | DISP1 | Zornitza Stark Gene: disp1 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.91 | DISP1 | Zornitza Stark reviewed gene: DISP1: Rating: RED; Mode of pathogenicity: None; Publications: 19184110, 26748417, 23542665; Phenotypes: Holoprosencephaly; Mode of inheritance: Other | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.91 | DDX59 | Zornitza Stark Marked gene: DDX59 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.91 | DDX59 | Zornitza Stark Gene: ddx59 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.91 | DDX59 | Zornitza Stark Phenotypes for gene: DDX59 were changed from to Orofaciodigital syndrome V, MIM#174300 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.90 | DDX59 | Zornitza Stark Publications for gene: DDX59 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.89 | DDX59 | Zornitza Stark commented on gene: DDX59: Some affected individuals are reported as having ID. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.89 | DDX59 | Zornitza Stark reviewed gene: DDX59: Rating: GREEN; Mode of pathogenicity: None; Publications: 28711741, 23972372, 29127725; Phenotypes: Orofaciodigital syndrome V, MIM#174300; Mode of inheritance: None | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.89 | DDR2 | Zornitza Stark Marked gene: DDR2 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.89 | DDR2 | Zornitza Stark Gene: ddr2 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.89 | DDR2 | Zornitza Stark Phenotypes for gene: DDR2 were changed from to Warburg-Cinotti syndrome, MIM#618175, AD; Spondylometaepiphyseal dysplasia, short limb-hand type, MIM#271665, AR | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.88 | DDR2 | Zornitza Stark Mode of inheritance for gene: DDR2 was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.87 | DDR2 | Zornitza Stark Classified gene: DDR2 as Red List (low evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.87 | DDR2 | Zornitza Stark Gene: ddr2 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.86 | DDR2 | Zornitza Stark reviewed gene: DDR2: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Warburg-Cinotti syndrome, MIM#618175, AD, Spondylometaepiphyseal dysplasia, short limb-hand type, MIM#271665, AR; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.86 | DDB1 | Zornitza Stark Marked gene: DDB1 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.86 | DDB1 | Zornitza Stark Gene: ddb1 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.86 | DDB1 | Zornitza Stark Classified gene: DDB1 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.86 | DDB1 | Zornitza Stark Gene: ddb1 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.85 | DDB1 |
Zornitza Stark gene: DDB1 was added gene: DDB1 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Research Mode of inheritance for gene: DDB1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: DDB1 were set to Syndromic intellectual disability Review for gene: DDB1 was set to GREEN Added comment: High quality unpublished evidence. Sources: Research |
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| Mendeliome v0.125 | DDB1 | Zornitza Stark Marked gene: DDB1 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v0.125 | DDB1 | Zornitza Stark Gene: ddb1 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v0.125 | DDB1 | Zornitza Stark Phenotypes for gene: DDB1 were changed from to Syndromic intellectual disability | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v0.124 | DDB1 | Zornitza Stark Mode of inheritance for gene: DDB1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v0.123 | DDB1 | Zornitza Stark reviewed gene: DDB1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Syndromic intellectual disability; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.84 | CNTN4 | Zornitza Stark Marked gene: CNTN4 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.84 | CNTN4 | Zornitza Stark Gene: cntn4 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.84 | CNTN4 | Zornitza Stark Phenotypes for gene: CNTN4 were changed from to Intellectual disability; SCA | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.83 | CNTN4 | Zornitza Stark Publications for gene: CNTN4 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.82 | CNTN4 | Zornitza Stark Mode of inheritance for gene: CNTN4 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.81 | CNTN4 | Zornitza Stark Classified gene: CNTN4 as Red List (low evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.81 | CNTN4 | Zornitza Stark Gene: cntn4 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.80 | CYP2U1 | Zornitza Stark Marked gene: CYP2U1 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.80 | CYP2U1 | Zornitza Stark Gene: cyp2u1 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.80 | CYP2U1 | Zornitza Stark Phenotypes for gene: CYP2U1 were changed from to Spastic paraplegia 56, autosomal recessive, MIM#615030 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.79 | CYP2U1 | Zornitza Stark Mode of inheritance for gene: CYP2U1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.78 | CYP2U1 | Zornitza Stark Classified gene: CYP2U1 as Red List (low evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.78 | CYP2U1 | Zornitza Stark Gene: cyp2u1 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.77 | CYP2U1 | Zornitza Stark reviewed gene: CYP2U1: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Spastic paraplegia 56, autosomal recessive, MIM#615030; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.77 | CYFIP1 | Zornitza Stark Marked gene: CYFIP1 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.77 | CYFIP1 | Zornitza Stark Gene: cyfip1 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.77 | CYFIP1 | Zornitza Stark Classified gene: CYFIP1 as Red List (low evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.77 | CYFIP1 | Zornitza Stark Gene: cyfip1 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.76 | CYFIP1 | Zornitza Stark reviewed gene: CYFIP1: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.76 | CUX2 | Zornitza Stark Marked gene: CUX2 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.76 | CUX2 | Zornitza Stark Gene: cux2 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.76 | CUX2 | Zornitza Stark Phenotypes for gene: CUX2 were changed from to Epileptic encephalopathy, early infantile, 67, MIM#618141 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.75 | CUX2 | Zornitza Stark Publications for gene: CUX2 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.74 | CUX2 | Zornitza Stark Mode of inheritance for gene: CUX2 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.73 | CUX2 | Zornitza Stark reviewed gene: CUX2: Rating: GREEN; Mode of pathogenicity: None; Publications: 29630738, 29795476; Phenotypes: Epileptic encephalopathy, early infantile, 67, MIM#618141; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.73 | CUBN | Zornitza Stark Marked gene: CUBN as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.73 | CUBN | Zornitza Stark Gene: cubn has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.73 | CUBN | Zornitza Stark Phenotypes for gene: CUBN were changed from to Megaloblastic anemia-1, Finnish type, MIM#261100; Proteinuria | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.72 | CUBN | Zornitza Stark Mode of inheritance for gene: CUBN was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.71 | CUBN | Zornitza Stark Classified gene: CUBN as Red List (low evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.71 | CUBN | Zornitza Stark Gene: cubn has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.70 | CUBN | Zornitza Stark reviewed gene: CUBN: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Megaloblastic anemia-1, Finnish type, MIM#261100, Proteinuria; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.70 | CTU2 | Zornitza Stark Marked gene: CTU2 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.70 | CTU2 | Zornitza Stark Gene: ctu2 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.70 | CTU2 | Zornitza Stark Classified gene: CTU2 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.70 | CTU2 | Zornitza Stark Gene: ctu2 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.69 | CTU2 |
Zornitza Stark gene: CTU2 was added gene: CTU2 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert list Mode of inheritance for gene: CTU2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: CTU2 were set to 27480277; 26633546 Phenotypes for gene: CTU2 were set to Microcephaly, facial dysmorphism, renal agenesis, and ambiguous genitalia syndrome, MIM#618142 Review for gene: CTU2 was set to GREEN Added comment: Multiple Saudi families reported with same homozygous variant; founder effect. Severe disorder of infancy. Sources: Expert list |
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| Intellectual disability syndromic and non-syndromic v0.68 | CTSF | Zornitza Stark Marked gene: CTSF as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.68 | CTSF | Zornitza Stark Gene: ctsf has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.68 | CTSF | Zornitza Stark Phenotypes for gene: CTSF were changed from to Ceroid lipofuscinosis, neuronal, 13, Kufs type, MIM#615362 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.67 | CTSF | Zornitza Stark Mode of inheritance for gene: CTSF was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.66 | CTSF | Zornitza Stark Classified gene: CTSF as Red List (low evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.66 | CTSF | Zornitza Stark Gene: ctsf has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.65 | CTSF | Zornitza Stark reviewed gene: CTSF: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Ceroid lipofuscinosis, neuronal, 13, Kufs type, MIM#615362; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Callosome v0.17 | CTNNA2 | Zornitza Stark Marked gene: CTNNA2 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Callosome v0.17 | CTNNA2 | Zornitza Stark Gene: ctnna2 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Callosome v0.17 | CTNNA2 | Zornitza Stark Phenotypes for gene: CTNNA2 were changed from to Cortical dysplasia, complex, with other brain malformations 9, MIM#618174 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Callosome v0.16 | CTNNA2 | Zornitza Stark Publications for gene: CTNNA2 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Microcephaly v0.14 | CTNNA2 | Zornitza Stark Phenotypes for gene: CTNNA2 were changed from Cortical dysplasia, complex, with other brain malformations 9, MIM#618174 to Cortical dysplasia, complex, with other brain malformations 9, MIM#618174 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Microcephaly v0.13 | CTNNA2 | Zornitza Stark Marked gene: CTNNA2 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Microcephaly v0.13 | CTNNA2 | Zornitza Stark Gene: ctnna2 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Microcephaly v0.13 | CTNNA2 | Zornitza Stark Phenotypes for gene: CTNNA2 were changed from Cortical dysplasia, complex, with other brain malformations 9, MIM#618174 to Cortical dysplasia, complex, with other brain malformations 9, MIM#618174 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Microcephaly v0.13 | CTNNA2 | Zornitza Stark Phenotypes for gene: CTNNA2 were changed from to Cortical dysplasia, complex, with other brain malformations 9, MIM#618174 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Callosome v0.15 | CTNNA2 | Zornitza Stark Mode of inheritance for gene: CTNNA2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Microcephaly v0.12 | CTNNA2 | Zornitza Stark Publications for gene: CTNNA2 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Microcephaly v0.11 | CTNNA2 | Zornitza Stark Mode of inheritance for gene: CTNNA2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v0.123 | CTNNA2 | Zornitza Stark Marked gene: CTNNA2 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v0.123 | CTNNA2 | Zornitza Stark Gene: ctnna2 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v0.123 | CTNNA2 | Zornitza Stark Phenotypes for gene: CTNNA2 were changed from to Cortical dysplasia, complex, with other brain malformations 9, MIM#618174 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v0.122 | CTNNA2 | Zornitza Stark Publications for gene: CTNNA2 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v0.121 | CTNNA2 | Zornitza Stark Mode of inheritance for gene: CTNNA2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Lissencephaly and Band Heterotopia v0.5 | CTNNA2 | Zornitza Stark Marked gene: CTNNA2 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Lissencephaly and Band Heterotopia v0.5 | CTNNA2 | Zornitza Stark Gene: ctnna2 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Lissencephaly and Band Heterotopia v0.5 | CTNNA2 | Zornitza Stark Phenotypes for gene: CTNNA2 were changed from to Cortical dysplasia, complex, with other brain malformations 9, MIM#618174 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Lissencephaly and Band Heterotopia v0.4 | CTNNA2 | Zornitza Stark Publications for gene: CTNNA2 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Lissencephaly and Band Heterotopia v0.3 | CTNNA2 | Zornitza Stark Mode of inheritance for gene: CTNNA2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Lissencephaly and Band Heterotopia v0.2 | CTNNA2 | Zornitza Stark reviewed gene: CTNNA2: Rating: GREEN; Mode of pathogenicity: None; Publications: 30013181; Phenotypes: Cortical dysplasia, complex, with other brain malformations 9, MIM#618174; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.65 | CTNNA2 | Zornitza Stark Marked gene: CTNNA2 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.65 | CTNNA2 | Zornitza Stark Gene: ctnna2 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.65 | CTNNA2 | Zornitza Stark Classified gene: CTNNA2 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.65 | CTNNA2 | Zornitza Stark Gene: ctnna2 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.64 | CTNNA2 |
Zornitza Stark gene: CTNNA2 was added gene: CTNNA2 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert list Mode of inheritance for gene: CTNNA2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: CTNNA2 were set to 30013181 Phenotypes for gene: CTNNA2 were set to Cortical dysplasia, complex, with other brain malformations 9, MIM#618174 Review for gene: CTNNA2 was set to GREEN Added comment: 13 children from three unrelated families reported, severe ID as part of the phenotype. Sources: Expert list |
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| Intellectual disability syndromic and non-syndromic v0.63 | CRTAP | Zornitza Stark Marked gene: CRTAP as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.63 | CRTAP | Zornitza Stark Gene: crtap has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.63 | CRTAP | Zornitza Stark Phenotypes for gene: CRTAP were changed from to Osteogenesis imperfecta, type VII, MIM#610682 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.62 | CRTAP | Zornitza Stark Mode of inheritance for gene: CRTAP was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.61 | CRTAP | Zornitza Stark Classified gene: CRTAP as Red List (low evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.61 | CRTAP | Zornitza Stark Gene: crtap has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.60 | CRTAP | Zornitza Stark reviewed gene: CRTAP: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Osteogenesis imperfecta, type VII, MIM#610682; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.60 | CRLF1 | Zornitza Stark Marked gene: CRLF1 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.60 | CRLF1 | Zornitza Stark Gene: crlf1 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.60 | CRLF1 | Zornitza Stark Phenotypes for gene: CRLF1 were changed from to Cold-induced sweating syndrome 1, MIM#272430 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.59 | CRLF1 | Zornitza Stark Mode of inheritance for gene: CRLF1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.58 | CRLF1 | Zornitza Stark Classified gene: CRLF1 as Red List (low evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.58 | CRLF1 | Zornitza Stark Gene: crlf1 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.57 | CRLF1 | Zornitza Stark reviewed gene: CRLF1: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Cold-induced sweating syndrome 1, MIM#272430; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.57 | CRKL | Zornitza Stark Marked gene: CRKL as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.57 | CRKL | Zornitza Stark Gene: crkl has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.57 | CRKL | Zornitza Stark Publications for gene: CRKL were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.56 | CRKL | Zornitza Stark Mode of inheritance for gene: CRKL was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.55 | CRKL | Zornitza Stark Classified gene: CRKL as Red List (low evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.55 | CRKL | Zornitza Stark Gene: crkl has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.54 | CRKL | Zornitza Stark reviewed gene: CRKL: Rating: RED; Mode of pathogenicity: None; Publications: 28121514, 25565927; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v0.119 | CPA6 | Zornitza Stark reviewed gene: CPA6: Rating: GREEN; Mode of pathogenicity: None; Publications: 25875328, 21922598, 23105115; Phenotypes: Epilepsy, familial temporal lobe, 5, MIM#614417, Febrile seizures, familial, 11, MIM#614418; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.54 | CPA6 | Zornitza Stark Marked gene: CPA6 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.54 | CPA6 | Zornitza Stark Gene: cpa6 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.54 | CPA6 | Zornitza Stark Phenotypes for gene: CPA6 were changed from to Epilepsy, familial temporal lobe, 5, MIM#614417; Febrile seizures, familial, 11, MIM#614418 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.53 | CPA6 | Zornitza Stark Publications for gene: CPA6 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.52 | CPA6 | Zornitza Stark Mode of inheritance for gene: CPA6 was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.51 | CPA6 | Zornitza Stark Classified gene: CPA6 as Red List (low evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.51 | CPA6 | Zornitza Stark Gene: cpa6 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Genetic Epilepsy v0.14 | CPA6 | Zornitza Stark Marked gene: CPA6 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Genetic Epilepsy v0.14 | CPA6 | Zornitza Stark Gene: cpa6 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Genetic Epilepsy v0.14 | CPA6 | Zornitza Stark Phenotypes for gene: CPA6 were changed from to Epilepsy, familial temporal lobe, 5, MIM#614417; Febrile seizures, familial, 11, MIM#614418 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Genetic Epilepsy v0.13 | CPA6 | Zornitza Stark Publications for gene: CPA6 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Genetic Epilepsy v0.12 | CPA6 | Zornitza Stark Mode of inheritance for gene: CPA6 was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Genetic Epilepsy v0.11 | CPA6 | Zornitza Stark reviewed gene: CPA6: Rating: GREEN; Mode of pathogenicity: None; Publications: 25875328, 21922598, 23105115; Phenotypes: Epilepsy, familial temporal lobe, 5, MIM#614417, Febrile seizures, familial, 11, MIM#614418; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.50 | CPA6 | Zornitza Stark reviewed gene: CPA6: Rating: RED; Mode of pathogenicity: None; Publications: 25875328, 21922598, 23105115; Phenotypes: Epilepsy, familial temporal lobe, 5, MIM#614417, Febrile seizures, familial, 11, MIM#614418; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Regression v0.16 | CP | Zornitza Stark Marked gene: CP as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Regression v0.16 | CP | Zornitza Stark Gene: cp has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Regression v0.16 | CP | Zornitza Stark Mode of inheritance for gene: CP was changed from BIALLELIC, autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Regression v0.15 | CP | Zornitza Stark Phenotypes for gene: CP were changed from to Aceruloplasminaemia, MIM#604290 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Regression v0.15 | CP | Zornitza Stark Mode of inheritance for gene: CP was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Regression v0.14 | CP | Zornitza Stark reviewed gene: CP: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Aceruloplasminaemia, MIM#604290; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v0.119 | CP | Zornitza Stark Marked gene: CP as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v0.119 | CP | Zornitza Stark Gene: cp has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v0.119 | CP | Zornitza Stark Phenotypes for gene: CP were changed from to Aceruloplasminaemia, MIM#604290 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v0.118 | CP | Zornitza Stark Mode of inheritance for gene: CP was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v0.117 | CP | Zornitza Stark reviewed gene: CP: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Aceruloplasminaemia, MIM#604290; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Early-onset Parkinson disease v0.4 | CP | Zornitza Stark Marked gene: CP as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Early-onset Parkinson disease v0.4 | CP | Zornitza Stark Gene: cp has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Early-onset Parkinson disease v0.4 | CP | Zornitza Stark Phenotypes for gene: CP were changed from to Aceruloplasminaemia, MIM#604290 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Early-onset Parkinson disease v0.3 | CP | Zornitza Stark Mode of inheritance for gene: CP was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Early-onset Parkinson disease v0.2 | CP | Zornitza Stark reviewed gene: CP: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Aceruloplasminaemia, MIM#604290; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.50 | CP | Zornitza Stark Marked gene: CP as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.50 | CP | Zornitza Stark Gene: cp has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.50 | CP | Zornitza Stark Phenotypes for gene: CP were changed from to Aceruloplasminaemia, MIM#604290 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.49 | CP | Zornitza Stark Mode of inheritance for gene: CP was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.48 | CP | Zornitza Stark Classified gene: CP as Red List (low evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.48 | CP | Zornitza Stark Gene: cp has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.47 | CP | Zornitza Stark reviewed gene: CP: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Aceruloplasminaemia, MIM#604290; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.47 | COX7B | Zornitza Stark Marked gene: COX7B as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.47 | COX7B | Zornitza Stark Gene: cox7b has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.47 | COX7B | Zornitza Stark Phenotypes for gene: COX7B were changed from to Linear skin defects with multiple congenital anomalies 2, MIM#300887 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.46 | COX7B | Zornitza Stark Publications for gene: COX7B were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.45 | COX7B | Zornitza Stark Classified gene: COX7B as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.45 | COX7B | Zornitza Stark Gene: cox7b has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.44 | COX7B | Zornitza Stark reviewed gene: COX7B: Rating: AMBER; Mode of pathogenicity: None; Publications: 23122588; Phenotypes: Linear skin defects with multiple congenital anomalies 2, MIM#300887; Mode of inheritance: Other | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v0.117 | COX4I2 | Zornitza Stark Marked gene: COX4I2 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v0.117 | COX4I2 | Zornitza Stark Gene: cox4i2 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v0.117 | COX4I2 | Zornitza Stark Phenotypes for gene: COX4I2 were changed from to Exocrine pancreatic insufficiency, dyserythropoietic anemia, and calvarial hyperostosis, MIM#612714 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v0.116 | COX4I2 | Zornitza Stark Publications for gene: COX4I2 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v0.115 | COX4I2 | Zornitza Stark Mode of inheritance for gene: COX4I2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.44 | COX4I2 | Zornitza Stark Marked gene: COX4I2 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.44 | COX4I2 | Zornitza Stark Gene: cox4i2 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.44 | COX4I2 | Zornitza Stark Phenotypes for gene: COX4I2 were changed from to Exocrine pancreatic insufficiency, dyserythropoietic anemia, and calvarial hyperostosis, MIM#612714 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mitochondrial disease v0.11 | COX4I2 | Zornitza Stark reviewed gene: COX4I2: Rating: GREEN; Mode of pathogenicity: None; Publications: 19268275, 22730437; Phenotypes: Exocrine pancreatic insufficiency, dyserythropoietic anemia, and calvarial hyperostosis, MIM#612714; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.43 | COX4I2 | Zornitza Stark Publications for gene: COX4I2 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.42 | COX4I2 | Zornitza Stark Classified gene: COX4I2 as Red List (low evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.42 | COX4I2 | Zornitza Stark Gene: cox4i2 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.41 | COX4I2 | Zornitza Stark reviewed gene: COX4I2: Rating: RED; Mode of pathogenicity: None; Publications: 19268275, 22730437; Phenotypes: Exocrine pancreatic insufficiency, dyserythropoietic anemia, and calvarial hyperostosis, MIM#612714; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.41 | COX20 | Zornitza Stark Marked gene: COX20 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.41 | COX20 | Zornitza Stark Gene: cox20 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.41 | COX20 | Zornitza Stark Phenotypes for gene: COX20 were changed from to Mitochondrial complex IV deficiency, MIM#220110 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.40 | COX20 | Zornitza Stark Publications for gene: COX20 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.39 | COX20 | Zornitza Stark Mode of inheritance for gene: COX20 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.38 | COX20 | Zornitza Stark Classified gene: COX20 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.38 | COX20 | Zornitza Stark Gene: cox20 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.37 | COX20 | Zornitza Stark reviewed gene: COX20: Rating: RED; Mode of pathogenicity: None; Publications: 31079202, 30656193, 24202787; Phenotypes: Mitochondrial complex IV deficiency, MIM#220110; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v0.113 | PDIA2 | Zornitza Stark Marked gene: PDIA2 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v0.113 | PDIA2 | Zornitza Stark Gene: pdia2 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v0.113 | PDIA2 | Zornitza Stark Phenotypes for gene: PDIA2 were changed from to Bicuspid aortic valve | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v0.112 | PDIA2 | Zornitza Stark Publications for gene: PDIA2 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v0.111 | PDIA2 | Zornitza Stark Mode of inheritance for gene: PDIA2 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v0.110 | PDIA2 | Zornitza Stark Classified gene: PDIA2 as Red List (low evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v0.110 | PDIA2 | Zornitza Stark Gene: pdia2 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v0.109 | PDIA2 | Zornitza Stark reviewed gene: PDIA2: Rating: RED; Mode of pathogenicity: None; Publications: 20098615; Phenotypes: Bicuspid aortic valve; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v0.109 | COX14 | Zornitza Stark Marked gene: COX14 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v0.109 | COX14 | Zornitza Stark Gene: cox14 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v0.109 | COX14 | Zornitza Stark Phenotypes for gene: COX14 were changed from to Mitochondrial complex IV deficiency, MIM#220110 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v0.108 | COX14 | Zornitza Stark Publications for gene: COX14 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v0.107 | COX14 | Zornitza Stark Mode of inheritance for gene: COX14 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v0.106 | COX14 | Zornitza Stark Classified gene: COX14 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v0.106 | COX14 | Zornitza Stark Gene: cox14 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Regression v0.14 | COX14 | Zornitza Stark Marked gene: COX14 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Regression v0.14 | COX14 | Zornitza Stark Gene: cox14 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Regression v0.14 | COX14 | Zornitza Stark Mode of inheritance for gene: COX14 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Regression v0.13 | COX14 | Zornitza Stark Phenotypes for gene: COX14 were changed from to Mitochondrial complex IV deficiency, MIM#220110 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Regression v0.12 | COX14 | Zornitza Stark Publications for gene: COX14 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Regression v0.11 | COX14 | Zornitza Stark Classified gene: COX14 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Regression v0.11 | COX14 | Zornitza Stark Gene: cox14 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Regression v0.10 | COX14 | Zornitza Stark reviewed gene: COX14: Rating: AMBER; Mode of pathogenicity: None; Publications: 22243966; Phenotypes: Mitochondrial complex IV deficiency, MIM#220110; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mitochondrial disease v0.11 | COX14 | Zornitza Stark Marked gene: COX14 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mitochondrial disease v0.11 | COX14 | Zornitza Stark Gene: cox14 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mitochondrial disease v0.11 | COX14 | Zornitza Stark Phenotypes for gene: COX14 were changed from to Mitochondrial complex IV deficiency, MIM#220110 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mitochondrial disease v0.10 | COX14 | Zornitza Stark Publications for gene: COX14 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mitochondrial disease v0.9 | COX14 | Zornitza Stark Mode of inheritance for gene: COX14 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mitochondrial disease v0.8 | COX14 | Zornitza Stark Classified gene: COX14 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mitochondrial disease v0.8 | COX14 | Zornitza Stark Gene: cox14 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mitochondrial disease v0.7 | COX14 | Zornitza Stark reviewed gene: COX14: Rating: AMBER; Mode of pathogenicity: None; Publications: 22243966; Phenotypes: Mitochondrial complex IV deficiency, MIM#220110; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.37 | COX14 | Zornitza Stark Marked gene: COX14 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.37 | COX14 | Zornitza Stark Gene: cox14 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.37 | COX14 | Zornitza Stark Phenotypes for gene: COX14 were changed from to Mitochondrial complex IV deficiency, MIM#220110 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.36 | COX14 | Zornitza Stark Publications for gene: COX14 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.35 | COX14 | Zornitza Stark Mode of inheritance for gene: COX14 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.34 | COX14 | Zornitza Stark Classified gene: COX14 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.34 | COX14 | Zornitza Stark Gene: cox14 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.33 | COX14 | Zornitza Stark reviewed gene: COX14: Rating: AMBER; Mode of pathogenicity: None; Publications: 22243966; Phenotypes: Mitochondrial complex IV deficiency, MIM#220110; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.33 | CORO1A | Zornitza Stark Marked gene: CORO1A as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.33 | CORO1A | Zornitza Stark Gene: coro1a has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.33 | CORO1A | Zornitza Stark Phenotypes for gene: CORO1A were changed from to Immunodeficiency 8, MIM#615401 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.32 | CORO1A | Zornitza Stark Mode of inheritance for gene: CORO1A was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.31 | CORO1A | Zornitza Stark Classified gene: CORO1A as Red List (low evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.31 | CORO1A | Zornitza Stark Gene: coro1a has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.30 | CORO1A | Zornitza Stark reviewed gene: CORO1A: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Immunodeficiency 8, MIM#615401; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.30 | COQ9 | Zornitza Stark reviewed gene: COQ9: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Coenzyme Q10 deficiency, primary, 5, MIM#614654; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Aortopathy_Connective Tissue Disorders v0.2 | ATP7A | Zornitza Stark Marked gene: ATP7A as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Aortopathy_Connective Tissue Disorders v0.2 | ATP7A | Zornitza Stark Gene: atp7a has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Aortopathy_Connective Tissue Disorders v0.2 | ATP7A | Zornitza Stark Classified gene: ATP7A as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Aortopathy_Connective Tissue Disorders v0.2 | ATP7A | Zornitza Stark Gene: atp7a has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Aortopathy_Connective Tissue Disorders v0.1 | ATP7A |
Zornitza Stark gene: ATP7A was added gene: ATP7A was added to Aortopathy, Connective tissue disorder_VCGS. Sources: Expert list Mode of inheritance for gene: ATP7A was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Phenotypes for gene: ATP7A were set to Occipital horn syndrome, MIM#304150; Menkes disease, MIM#309400 Review for gene: ATP7A was set to GREEN Added comment: Connective tissue laxity is a prominent part of the phenotype. Sources: Expert list |
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| Intellectual disability syndromic and non-syndromic v0.30 | COQ2 | Zornitza Stark Marked gene: COQ2 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.30 | COQ2 | Zornitza Stark Gene: coq2 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.30 | COQ2 | Zornitza Stark Phenotypes for gene: COQ2 were changed from to Coenzyme Q10 deficiency, primary, 1, MIM#607426 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.29 | COQ2 | Zornitza Stark Mode of inheritance for gene: COQ2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.28 | COQ2 | Zornitza Stark reviewed gene: COQ2: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Coenzyme Q10 deficiency, primary, 1, MIM#607426; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.28 | COL18A1 | Zornitza Stark Marked gene: COL18A1 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.28 | COL18A1 | Zornitza Stark Gene: col18a1 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.28 | COL18A1 | Zornitza Stark Phenotypes for gene: COL18A1 were changed from to Knobloch syndrome, type 1, MIM#267750 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.27 | COL18A1 | Zornitza Stark Mode of inheritance for gene: COL18A1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.26 | COL18A1 | Zornitza Stark Classified gene: COL18A1 as Red List (low evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.26 | COL18A1 | Zornitza Stark Gene: col18a1 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.25 | COL18A1 | Zornitza Stark reviewed gene: COL18A1: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Knobloch syndrome, type 1, MIM#267750; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.25 | COG6 | Zornitza Stark reviewed gene: COG6: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Congenital disorder of glycosylation, type Iil, MIM#614576; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.25 | CNTNAP5 | Zornitza Stark Marked gene: CNTNAP5 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.25 | CNTNAP5 | Zornitza Stark Gene: cntnap5 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.25 | CNTNAP5 | Zornitza Stark Phenotypes for gene: CNTNAP5 were changed from to Autism | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.24 | CNTNAP5 | Zornitza Stark Publications for gene: CNTNAP5 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.23 | CNTNAP5 | Zornitza Stark Mode of inheritance for gene: CNTNAP5 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.22 | CNTNAP5 | Zornitza Stark Classified gene: CNTNAP5 as Red List (low evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.22 | CNTNAP5 | Zornitza Stark Gene: cntnap5 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.21 | CNTNAP5 | Zornitza Stark reviewed gene: CNTNAP5: Rating: RED; Mode of pathogenicity: None; Publications: 20346443; Phenotypes: Autism; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Arthrogryposis v0.7 | CNTNAP1 | Zornitza Stark Marked gene: CNTNAP1 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Arthrogryposis v0.7 | CNTNAP1 | Zornitza Stark Gene: cntnap1 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Arthrogryposis v0.7 | CNTNAP1 | Zornitza Stark Phenotypes for gene: CNTNAP1 were changed from to Hypomyelinating neuropathy, congenital, 3, MIM#618186; Lethal congenital contracture syndrome 7, MIM# 616286 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Arthrogryposis v0.6 | CNTNAP1 | Zornitza Stark Publications for gene: CNTNAP1 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Arthrogryposis v0.5 | CNTNAP1 | Zornitza Stark Mode of inheritance for gene: CNTNAP1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.21 | CNTNAP1 | Zornitza Stark Marked gene: CNTNAP1 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.21 | CNTNAP1 | Zornitza Stark Gene: cntnap1 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.21 | CNTNAP1 | Zornitza Stark Phenotypes for gene: CNTNAP1 were changed from to Hypomyelinating neuropathy, congenital, 3, MIM#618186; Lethal congenital contracture syndrome 7, MIM# 616286 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.20 | CNTNAP1 | Zornitza Stark Publications for gene: CNTNAP1 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.19 | CNTNAP1 | Zornitza Stark Mode of inheritance for gene: CNTNAP1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.18 | CNTNAP1 | Zornitza Stark reviewed gene: CNTNAP1: Rating: GREEN; Mode of pathogenicity: None; Publications: 28374019, 29511323, 27668699; Phenotypes: Hypomyelinating neuropathy, congenital, 3, MIM#618186, Lethal congenital contracture syndrome 7, MIM# 616286; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Congenital anomalies of the kidney and urinary tract (CAKUT) v0.22 | ZIC3 | Zornitza Stark Marked gene: ZIC3 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Congenital anomalies of the kidney and urinary tract (CAKUT) v0.22 | ZIC3 | Zornitza Stark Gene: zic3 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Congenital anomalies of the kidney and urinary tract (CAKUT) v0.22 | ZIC3 | Zornitza Stark Classified gene: ZIC3 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Congenital anomalies of the kidney and urinary tract (CAKUT) v0.22 | ZIC3 | Zornitza Stark Gene: zic3 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Congenital anomalies of the kidney and urinary tract (CAKUT) v0.21 | ZIC3 |
Zornitza Stark gene: ZIC3 was added gene: ZIC3 was added to Congenital anomalies of the kidney and urinary tract (CAKUT) Syndromic_VCGS. Sources: Expert list Mode of inheritance for gene: ZIC3 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Phenotypes for gene: ZIC3 were set to VACTERL association, X-linked, MIM#314390 Review for gene: ZIC3 was set to GREEN Added comment: Sources: Expert list |
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| Congenital anomalies of the kidney and urinary tract (CAKUT) v0.20 | WNT5A | Zornitza Stark Marked gene: WNT5A as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Congenital anomalies of the kidney and urinary tract (CAKUT) v0.20 | WNT5A | Zornitza Stark Gene: wnt5a has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Congenital anomalies of the kidney and urinary tract (CAKUT) v0.20 | WNT5A | Zornitza Stark Classified gene: WNT5A as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Congenital anomalies of the kidney and urinary tract (CAKUT) v0.20 | WNT5A | Zornitza Stark Gene: wnt5a has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Congenital anomalies of the kidney and urinary tract (CAKUT) v0.19 | WNT5A |
Zornitza Stark gene: WNT5A was added gene: WNT5A was added to Congenital anomalies of the kidney and urinary tract (CAKUT) Syndromic_VCGS. Sources: Expert list Mode of inheritance for gene: WNT5A was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: WNT5A were set to Robinow syndrome, autosomal dominant 1, MIM#180700 Review for gene: WNT5A was set to GREEN Added comment: Renal anomalies in about a quarter. Sources: Expert list |
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| Congenital anomalies of the kidney and urinary tract (CAKUT) v0.18 | STRA6 | Zornitza Stark Marked gene: STRA6 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Congenital anomalies of the kidney and urinary tract (CAKUT) v0.18 | STRA6 | Zornitza Stark Gene: stra6 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Congenital anomalies of the kidney and urinary tract (CAKUT) v0.18 | STRA6 | Zornitza Stark Classified gene: STRA6 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Congenital anomalies of the kidney and urinary tract (CAKUT) v0.18 | STRA6 | Zornitza Stark Gene: stra6 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Congenital anomalies of the kidney and urinary tract (CAKUT) v0.17 | STRA6 |
Zornitza Stark gene: STRA6 was added gene: STRA6 was added to Congenital anomalies of the kidney and urinary tract (CAKUT) Syndromic_VCGS. Sources: Expert list Mode of inheritance for gene: STRA6 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: STRA6 were set to Microphthalmia, isolated, with coloboma 8, MIM#601186 Review for gene: STRA6 was set to GREEN Added comment: CAKUT is part of the phenotype Sources: Expert list |
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| Congenital anomalies of the kidney and urinary tract (CAKUT) v0.16 | KYNU | Zornitza Stark Marked gene: KYNU as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Congenital anomalies of the kidney and urinary tract (CAKUT) v0.16 | KYNU | Zornitza Stark Gene: kynu has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Congenital anomalies of the kidney and urinary tract (CAKUT) v0.16 | KYNU | Zornitza Stark Classified gene: KYNU as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Congenital anomalies of the kidney and urinary tract (CAKUT) v0.16 | KYNU | Zornitza Stark Gene: kynu has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Congenital anomalies of the kidney and urinary tract (CAKUT) v0.15 | KYNU |
Zornitza Stark gene: KYNU was added gene: KYNU was added to Congenital anomalies of the kidney and urinary tract (CAKUT) Syndromic_VCGS. Sources: Expert list Mode of inheritance for gene: KYNU was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: KYNU were set to 28792876 Phenotypes for gene: KYNU were set to Vertebral, cardiac, renal, and limb defects syndrome 2, MIM#617661 Review for gene: KYNU was set to GREEN Added comment: Two unrelated individuals plus functional data. Sources: Expert list |
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| Congenital anomalies of the kidney and urinary tract (CAKUT) v0.14 | HAAO | Zornitza Stark Marked gene: HAAO as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Congenital anomalies of the kidney and urinary tract (CAKUT) v0.14 | HAAO | Zornitza Stark Gene: haao has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Congenital anomalies of the kidney and urinary tract (CAKUT) v0.14 | HAAO | Zornitza Stark Classified gene: HAAO as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Congenital anomalies of the kidney and urinary tract (CAKUT) v0.14 | HAAO | Zornitza Stark Gene: haao has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Congenital anomalies of the kidney and urinary tract (CAKUT) v0.13 | HAAO |
Zornitza Stark gene: HAAO was added gene: HAAO was added to Congenital anomalies of the kidney and urinary tract (CAKUT) Syndromic_VCGS. Sources: Expert list Mode of inheritance for gene: HAAO was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: HAAO were set to 28792876 Phenotypes for gene: HAAO were set to Vertebral, cardiac, renal, and limb defects syndrome 1, MIM#617660 Review for gene: HAAO was set to GREEN Added comment: Two unrelated individuals, functional data. Sources: Expert list |
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| Congenital anomalies of the kidney and urinary tract (CAKUT) v0.12 | FGFR3 | Zornitza Stark Marked gene: FGFR3 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Congenital anomalies of the kidney and urinary tract (CAKUT) v0.12 | FGFR3 | Zornitza Stark Gene: fgfr3 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Congenital anomalies of the kidney and urinary tract (CAKUT) v0.12 | FGFR3 | Zornitza Stark Classified gene: FGFR3 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Congenital anomalies of the kidney and urinary tract (CAKUT) v0.12 | FGFR3 | Zornitza Stark Gene: fgfr3 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Congenital anomalies of the kidney and urinary tract (CAKUT) v0.11 | FGFR3 |
Zornitza Stark gene: FGFR3 was added gene: FGFR3 was added to Congenital anomalies of the kidney and urinary tract (CAKUT) Syndromic_VCGS. Sources: Expert list Mode of inheritance for gene: FGFR3 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: FGFR3 were set to LADD syndrome, MIM#149730 Review for gene: FGFR3 was set to GREEN Added comment: CAKUT is a feature of LADD syndrome. Sources: Expert list |
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| Congenital anomalies of the kidney and urinary tract (CAKUT) v0.10 | DACT1 | Zornitza Stark Marked gene: DACT1 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Congenital anomalies of the kidney and urinary tract (CAKUT) v0.10 | DACT1 | Zornitza Stark Gene: dact1 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Congenital anomalies of the kidney and urinary tract (CAKUT) v0.10 | DACT1 | Zornitza Stark Classified gene: DACT1 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Congenital anomalies of the kidney and urinary tract (CAKUT) v0.10 | DACT1 | Zornitza Stark Gene: dact1 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Congenital anomalies of the kidney and urinary tract (CAKUT) v0.9 | DACT1 |
Zornitza Stark gene: DACT1 was added gene: DACT1 was added to Congenital anomalies of the kidney and urinary tract (CAKUT) Syndromic_VCGS. Sources: Expert list Mode of inheritance for gene: DACT1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: DACT1 were set to 28054444 Phenotypes for gene: DACT1 were set to Townes-Brocks syndrome 2, MIM#617466 Review for gene: DACT1 was set to AMBER Added comment: Single multigenerational family with a heterozygous variant in this gene and features of TBS including CAKUT. Sources: Expert list |
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| Congenital anomalies of the kidney and urinary tract (CAKUT) v0.8 | COQ7 | Zornitza Stark Marked gene: COQ7 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Congenital anomalies of the kidney and urinary tract (CAKUT) v0.8 | COQ7 | Zornitza Stark Gene: coq7 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Congenital anomalies of the kidney and urinary tract (CAKUT) v0.8 | COQ7 | Zornitza Stark Classified gene: COQ7 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Congenital anomalies of the kidney and urinary tract (CAKUT) v0.8 | COQ7 | Zornitza Stark Gene: coq7 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Congenital anomalies of the kidney and urinary tract (CAKUT) v0.7 | COQ7 |
Zornitza Stark gene: COQ7 was added gene: COQ7 was added to Congenital anomalies of the kidney and urinary tract (CAKUT) Syndromic_VCGS. Sources: Expert list Mode of inheritance for gene: COQ7 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: COQ7 were set to 31240163; 28409910; 26084283 Phenotypes for gene: COQ7 were set to Coenzyme Q10 deficiency, primary, 8, MIM#616733 Review for gene: COQ7 was set to GREEN Added comment: Three individuals described in the literature, renal disease prominent in at least two. Sources: Expert list |
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| Congenital anomalies of the kidney and urinary tract (CAKUT) v0.6 | CENPF | Zornitza Stark Marked gene: CENPF as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Congenital anomalies of the kidney and urinary tract (CAKUT) v0.6 | CENPF | Zornitza Stark Gene: cenpf has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Congenital anomalies of the kidney and urinary tract (CAKUT) v0.6 | CENPF | Zornitza Stark Classified gene: CENPF as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Congenital anomalies of the kidney and urinary tract (CAKUT) v0.6 | CENPF | Zornitza Stark Gene: cenpf has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Congenital anomalies of the kidney and urinary tract (CAKUT) v0.5 | CENPF |
Zornitza Stark gene: CENPF was added gene: CENPF was added to Congenital anomalies of the kidney and urinary tract (CAKUT) Syndromic_VCGS. Sources: Expert list Mode of inheritance for gene: CENPF was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: CENPF were set to Stromme syndrome, MIM#243605 Review for gene: CENPF was set to GREEN Added comment: CAKUT is part of the phenotype. Sources: Expert list |
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| Congenital anomalies of the kidney and urinary tract (CAKUT) v0.4 | EZH2 | Zornitza Stark Marked gene: EZH2 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Congenital anomalies of the kidney and urinary tract (CAKUT) v0.4 | EZH2 | Zornitza Stark Gene: ezh2 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Congenital anomalies of the kidney and urinary tract (CAKUT) v0.4 | EZH2 | Zornitza Stark Classified gene: EZH2 as Red List (low evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Congenital anomalies of the kidney and urinary tract (CAKUT) v0.4 | EZH2 | Zornitza Stark Gene: ezh2 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Congenital anomalies of the kidney and urinary tract (CAKUT) v0.3 | FOXC1 | Zornitza Stark Marked gene: FOXC1 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Congenital anomalies of the kidney and urinary tract (CAKUT) v0.3 | FOXC1 | Zornitza Stark Gene: foxc1 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Congenital anomalies of the kidney and urinary tract (CAKUT) v0.3 | FOXC1 | Zornitza Stark Classified gene: FOXC1 as Red List (low evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Congenital anomalies of the kidney and urinary tract (CAKUT) v0.3 | FOXC1 | Zornitza Stark Gene: foxc1 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Congenital anomalies of the kidney and urinary tract (CAKUT) v0.2 | SEMA3A | Zornitza Stark Marked gene: SEMA3A as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Congenital anomalies of the kidney and urinary tract (CAKUT) v0.2 | SEMA3A | Zornitza Stark Gene: sema3a has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Congenital anomalies of the kidney and urinary tract (CAKUT) v0.2 | SEMA3A | Zornitza Stark Classified gene: SEMA3A as Red List (low evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Congenital anomalies of the kidney and urinary tract (CAKUT) v0.2 | SEMA3A | Zornitza Stark Gene: sema3a has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Congenital anomalies of the kidney and urinary tract (CAKUT) v0.2 | SEMA3A | Zornitza Stark Classified gene: SEMA3A as Red List (low evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Congenital anomalies of the kidney and urinary tract (CAKUT) v0.2 | SEMA3A | Zornitza Stark Gene: sema3a has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Congenital anomalies of the kidney and urinary tract (CAKUT) v0.1 | SEMA3A | Zornitza Stark Classified gene: SEMA3A as Red List (low evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Congenital anomalies of the kidney and urinary tract (CAKUT) v0.1 | SEMA3A | Zornitza Stark Gene: sema3a has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Congenital anomalies of the kidney and urinary tract (CAKUT) v0.1 | SEMA3A | Zornitza Stark Classified gene: SEMA3A as Red List (low evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Congenital anomalies of the kidney and urinary tract (CAKUT) v0.1 | SEMA3A | Zornitza Stark Gene: sema3a has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.18 | ABCC6 | Chirag Patel Marked gene: ABCC6 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.18 | ABCC6 | Chirag Patel Added comment: Comment when marking as ready: Agree not an ID gene | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.18 | ABCC6 | Chirag Patel Gene: abcc6 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.18 | ABCC6 | Chirag Patel Mode of inheritance for gene: ABCC6 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.17 | ABCC6 | Chirag Patel Classified gene: ABCC6 as Red List (low evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.17 | ABCC6 | Chirag Patel Gene: abcc6 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.16 | CHD3 | Zornitza Stark Marked gene: CHD3 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.16 | CHD3 | Zornitza Stark Gene: chd3 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.16 | CHD3 | Zornitza Stark Classified gene: CHD3 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.16 | CHD3 | Zornitza Stark Gene: chd3 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.15 | ABAT | Zornitza Stark Marked gene: ABAT as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.15 | ABAT | Zornitza Stark Gene: abat has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.15 | ABAT | Zornitza Stark Phenotypes for gene: ABAT were changed from to GABA-transaminase deficiency, MIM#613163 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.14 | ABAT | Zornitza Stark Publications for gene: ABAT were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.13 | ABAT | Zornitza Stark Mode of inheritance for gene: ABAT was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.12 | AAAS | Zornitza Stark Marked gene: AAAS as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.12 | AAAS | Zornitza Stark Gene: aaas has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.12 | AAAS | Zornitza Stark Phenotypes for gene: AAAS were changed from to Achalasia-addisonianism-alacrimia syndrome, MIM#231550 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.11 | AAAS | Zornitza Stark Mode of inheritance for gene: AAAS was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hypertension and Aldosterone disorders v0.1 | Zornitza Stark Panel name changed from Renal hypertension and disorders of aldosterone metabolism_KidGen to Renal hypertension and disorders of aldosterone metabolism_KidGen_VCGS | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Renal Ciliopathies and Nephronophthisis v0.8 | San Lin removed gene:DNAJB11 from the panel | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Renal Ciliopathies and Nephronophthisis v0.7 | San Lin removed gene:DZIP1L from the panel | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Renal Ciliopathies and Nephronophthisis v0.6 | AHI1 | Zornitza Stark Marked gene: AHI1 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Renal Ciliopathies and Nephronophthisis v0.6 | AHI1 | Zornitza Stark Gene: ahi1 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Renal Ciliopathies and Nephronophthisis v0.6 | AHI1 | Zornitza Stark Phenotypes for gene: AHI1 were changed from Joubert syndrome 3 to Joubert syndrome 3, MIM#608629 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Renal Ciliopathies and Nephronophthisis v0.5 | AHI1 | Zornitza Stark Classified gene: AHI1 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Renal Ciliopathies and Nephronophthisis v0.5 | AHI1 | Zornitza Stark Gene: ahi1 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Congenital anomalies of the kidney and urinary tract (CAKUT) v0.0 | SEMA3A | Chirag Patel reviewed gene: SEMA3A: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Congenital anomalies of the kidney and urinary tract (CAKUT) v0.0 | FOXC1 | Chirag Patel reviewed gene: FOXC1: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Congenital anomalies of the kidney and urinary tract (CAKUT) v0.0 | EZH2 | Chirag Patel reviewed gene: EZH2: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Amyloidosis v0.19 | Zornitza Stark Panel name changed from Amyloidosis_KidGen_VCGS to Renal amyloidosis_KidGen_VCGS | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Amyloidosis v0.18 | Zornitza Stark Panel name changed from Amyloidosis_KidGen to Amyloidosis_KidGen_VCGS | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Amyloidosis v0.17 | NLRP3 | Zornitza Stark Marked gene: NLRP3 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Amyloidosis v0.17 | NLRP3 | Zornitza Stark Gene: nlrp3 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Amyloidosis v0.17 | NLRP3 | Zornitza Stark Phenotypes for gene: NLRP3 were changed from Muckle-Wells syndrome to Muckle-Wells syndrome, MIM#191900 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Amyloidosis v0.16 | NLRP3 | Zornitza Stark Classified gene: NLRP3 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Amyloidosis v0.16 | NLRP3 | Zornitza Stark Gene: nlrp3 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Amyloidosis v0.15 | LYZ | Zornitza Stark Marked gene: LYZ as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Amyloidosis v0.15 | LYZ | Zornitza Stark Gene: lyz has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Amyloidosis v0.15 | LYZ | Zornitza Stark Phenotypes for gene: LYZ were changed from Amyloidosis, renal to Amyloidosis, renal, MIM#105200 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Amyloidosis v0.14 | LYZ | Zornitza Stark Classified gene: LYZ as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Amyloidosis v0.14 | LYZ | Zornitza Stark Gene: lyz has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Amyloidosis v0.13 | GSN | Zornitza Stark Marked gene: GSN as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Amyloidosis v0.13 | GSN | Zornitza Stark Gene: gsn has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Amyloidosis v0.13 | GSN | Zornitza Stark Phenotypes for gene: GSN were changed from Amyloidosis, Finnish type to Amyloidosis, Finnish type, MIM#105200 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Amyloidosis v0.12 | GSN | Zornitza Stark Classified gene: GSN as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Amyloidosis v0.12 | GSN | Zornitza Stark Gene: gsn has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Amyloidosis v0.11 | FGA | Zornitza Stark Marked gene: FGA as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Amyloidosis v0.11 | FGA | Zornitza Stark Gene: fga has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Amyloidosis v0.11 | FGA | Zornitza Stark Phenotypes for gene: FGA were changed from Amyloidosis, familial visceral to Amyloidosis, familial visceral, MIM#105200 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Amyloidosis v0.10 | FGA | Zornitza Stark Classified gene: FGA as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Amyloidosis v0.10 | FGA | Zornitza Stark Gene: fga has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Amyloidosis v0.9 | APOA1 | Zornitza Stark Marked gene: APOA1 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Amyloidosis v0.9 | APOA1 | Zornitza Stark Gene: apoa1 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Amyloidosis v0.9 | APOA1 | Zornitza Stark Phenotypes for gene: APOA1 were changed from Amyloidosis, 3 or more types to Amyloidosis, 3 or more types, MIM#105200 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Amyloidosis v0.8 | APOA1 | Zornitza Stark Classified gene: APOA1 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Amyloidosis v0.8 | APOA1 | Zornitza Stark Gene: apoa1 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Renal Ciliopathies and Nephronophthisis v0.3 | FAN1 |
Chirag Patel gene: FAN1 was added gene: FAN1 was added to Renal ciliopathies and nephronophthisis_KidGen. Sources: Expert list Mode of inheritance for gene: FAN1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: FAN1 were set to PubMed: 22772369; 16678356; 7847351; 8546134 Phenotypes for gene: FAN1 were set to Interstitial nephritis, karyomegalic Review for gene: FAN1 was set to GREEN Added comment: Sources: Expert list |
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| Renal Ciliopathies and Nephronophthisis v0.1 | AHI1 |
Chirag Patel gene: AHI1 was added gene: AHI1 was added to Renal ciliopathies and nephronophthisis_KidGen. Sources: Expert list Mode of inheritance for gene: AHI1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: AHI1 were set to PubMed: 15322546; 15467982; 16453322; 29146704 Phenotypes for gene: AHI1 were set to Joubert syndrome 3 Review for gene: AHI1 was set to GREEN Added comment: Sources: Expert list |
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| Renal Ciliopathies and Nephronophthisis v0.0 | DZIP1L | Chirag Patel reviewed gene: DZIP1L: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Renal Ciliopathies and Nephronophthisis v0.0 | DNAJB11 | Chirag Patel reviewed gene: DNAJB11: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Amyloidosis v0.7 | GSN | Chirag Patel Publications for gene GSN were changed from PubMed: 8395367; 2176164; 8684801; 6975851; 29167514 to PubMed: 8395367; 2176164; 8684801; 6975851; 29167514 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Amyloidosis v0.6 | GSN | Chirag Patel reviewed gene: GSN: Rating: GREEN; Mode of pathogenicity: None; Publications: PubMed: 8395367, 2176164, 8684801, 6975851, 29167514; Phenotypes: Amyloidosis, Finnish type; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Amyloidosis v0.6 | GSN |
Chirag Patel Source KidGen_Amyloidosis v38.1.0 was removed from GSN. Source Expert list was added to GSN. Mode of inheritance for gene GSN was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: GSN were changed from to Amyloidosis, Finnish type Publications for gene GSN were changed from PubMed: 8395367; 2176164; 8684801; 6975851 to PubMed: 8395367; 2176164; 8684801; 6975851 |
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| Amyloidosis v0.5 | APOA1 |
Chirag Patel Source KidGen_Amyloidosis v38.1.0 was removed from APOA1. Source Expert list was added to APOA1. Mode of inheritance for gene APOA1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: APOA1 were changed from to Amyloidosis, 3 or more types Publications for gene APOA1 were changed from PubMed:31482740; 29968409; 27240838 to PubMed:31482740; 29968409; 27240838 |
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| Amyloidosis v0.4 | APOA1 | Chirag Patel reviewed gene: APOA1: Rating: GREEN; Mode of pathogenicity: None; Publications: PubMed:31482740, 29968409, 27240838; Phenotypes: Amyloidosis, 3 or more types; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Amyloidosis v0.4 | FGA | Chirag Patel edited their review of gene: FGA: Changed rating: GREEN; Changed publications: PubMed: 8097946, 8639778, 12050338 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Amyloidosis v0.4 | FGA |
Chirag Patel Source KidGen_Amyloidosis v38.1.0 was removed from FGA. Source Expert list was added to FGA. Mode of inheritance for gene FGA was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: FGA were changed from to Amyloidosis, familial visceral Publications for gene FGA were changed from PubMed: 8097946; 8639778; 12050338 to PubMed: 8097946; 8639778; 12050338 |
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| Amyloidosis v0.3 | FGA | Chirag Patel reviewed gene: FGA: Rating: ; Mode of pathogenicity: None; Publications: ; Phenotypes: Amyloidosis, familial visceral; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Amyloidosis v0.3 | LYZ | Chirag Patel reviewed gene: LYZ: Rating: GREEN; Mode of pathogenicity: None; Publications: PubMed: 1808634, 8464497, 15745733,; Phenotypes: Amyloidosis, renal; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Amyloidosis v0.3 | LYZ |
Chirag Patel Source KidGen_Amyloidosis v38.1.0 was removed from LYZ. Source Expert list was added to LYZ. Mode of inheritance for gene LYZ was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: LYZ were changed from to Amyloidosis, renal Publications for gene LYZ were changed from PubMed: 1808634; 8464497; 15745733, to PubMed: 1808634; 8464497; 15745733, |
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| Amyloidosis v0.2 | NLRP3 | Chirag Patel Publications for gene NLRP3 were changed from PubMed: 11687797; 28229991; 27435956; 31057541 to PubMed: 11687797; 28229991; 27435956; 31057541 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Amyloidosis v0.1 | NLRP3 |
Chirag Patel Source KidGen_Amyloidosis v38.1.0 was removed from NLRP3. Source Expert list was added to NLRP3. Mode of inheritance for gene NLRP3 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: NLRP3 were changed from to Muckle-Wells syndrome |
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| Amyloidosis v0.0 | NLRP3 | Chirag Patel reviewed gene: NLRP3: Rating: GREEN; Mode of pathogenicity: None; Publications: PubMed: 11687797, 28229991, 27435956, 31057541; Phenotypes: Muckle-Wells syndrome; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v0.104 | CNTN4 | Zornitza Stark Marked gene: CNTN4 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v0.104 | CNTN4 | Zornitza Stark Gene: cntn4 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v0.104 | CNTN4 | Zornitza Stark Classified gene: CNTN4 as Red List (low evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v0.104 | CNTN4 | Zornitza Stark Gene: cntn4 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Autism v0.9 | CNTN4 | Zornitza Stark Marked gene: CNTN4 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Autism v0.9 | CNTN4 | Zornitza Stark Gene: cntn4 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Autism v0.9 | CNTN4 | Zornitza Stark Classified gene: CNTN4 as Red List (low evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Autism v0.9 | CNTN4 | Zornitza Stark Gene: cntn4 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Autism v0.8 | CNTN4 | Zornitza Stark Phenotypes for gene: CNTN4 were changed from to Intellectual disability; SCA | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Autism v0.7 | CNTN4 | Zornitza Stark Publications for gene: CNTN4 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Autism v0.7 | CNTN4 | Zornitza Stark Classified gene: CNTN4 as Red List (low evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Autism v0.7 | CNTN4 | Zornitza Stark Gene: cntn4 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Autism v0.6 | CNTN4 | Zornitza Stark Mode of inheritance for gene: CNTN4 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Autism v0.5 | CNTN4 | Zornitza Stark reviewed gene: CNTN4: Rating: RED; Mode of pathogenicity: None; Publications: 15106122, 18349135, 17932120; Phenotypes: Intellectual disability, SCA; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.10 | CNTN4 | Zornitza Stark reviewed gene: CNTN4: Rating: RED; Mode of pathogenicity: None; Publications: 15106122, 18349135, 17932120; Phenotypes: Intellectual disability, SCA; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.10 | CLIP2 | Zornitza Stark reviewed gene: CLIP2: Rating: RED; Mode of pathogenicity: None; Publications: 22608712; Phenotypes: Intellectual disability; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.10 | CLCNKB | Zornitza Stark reviewed gene: CLCNKB: Rating: GREEN; Mode of pathogenicity: None; Publications: 18310267, 29254190; Phenotypes: Bartter syndrome, type 3, MIM#607364, Bartter syndrome, type 4b, digenic, MIM#613090; Mode of inheritance: Other | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.10 | CLCNKA | Zornitza Stark reviewed gene: CLCNKA: Rating: GREEN; Mode of pathogenicity: None; Publications: 18310267, 29254190; Phenotypes: Bartter syndrome, type 4b, digenic, MIM#613090; Mode of inheritance: Other | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.10 | CLCN2 | Zornitza Stark reviewed gene: CLCN2: Rating: AMBER; Mode of pathogenicity: None; Publications: 23707145; Phenotypes: Leukoencephalopathy with ataxia, MIM#615651; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.10 | CISD2 | Zornitza Stark reviewed gene: CISD2: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Wolfram syndrome 2, MIM#604928; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.10 | CHST14 | Zornitza Stark reviewed gene: CHST14: Rating: AMBER; Mode of pathogenicity: None; Publications: 25703627; Phenotypes: Ehlers-Danlos syndrome, musculocontractural type 1, MIM#601776; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.10 | CHD3 |
Zornitza Stark gene: CHD3 was added gene: CHD3 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert list Mode of inheritance for gene: CHD3 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: CHD3 were set to 30397230 Phenotypes for gene: CHD3 were set to Snijders Blok-Campeau syndrome, MIM#618205 Review for gene: CHD3 was set to GREEN gene: CHD3 was marked as current diagnostic Added comment: 35 individuals from 33 unrelated families reported with heterozygous variants in this gene. Sources: Expert list |
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| Intellectual disability syndromic and non-syndromic v0.9 | CHD1 |
Zornitza Stark gene: CHD1 was added gene: CHD1 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Literature Mode of inheritance for gene: CHD1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: CHD1 were set to 28866611 Phenotypes for gene: CHD1 were set to Pilarowski-Bjornsson syndrome, MIM#617682 Review for gene: CHD1 was set to GREEN Added comment: Six unrelated individuals with heterozygous variants reported. Sources: Literature |
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| Intellectual disability syndromic and non-syndromic v0.8 | CFHR3 | Zornitza Stark reviewed gene: CFHR3: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Hemolytic uremic syndrome, atypical, susceptibility to, MIM#235400; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.8 | CFHR1 | Zornitza Stark reviewed gene: CFHR1: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Hemolytic uremic syndrome, atypical, susceptibility to, MIM#235400; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.8 | CFH | Zornitza Stark reviewed gene: CFH: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Complement factor H deficiency, MIM#609814; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mitochondrial disease v0.7 | CEP89 | Zornitza Stark Marked gene: CEP89 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mitochondrial disease v0.7 | CEP89 | Zornitza Stark Gene: cep89 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mitochondrial disease v0.7 | CEP89 | Zornitza Stark Phenotypes for gene: CEP89 were changed from to Mitochondrial complex IV deficiency | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mitochondrial disease v0.6 | CEP89 | Zornitza Stark Publications for gene: CEP89 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mitochondrial disease v0.5 | CEP89 | Zornitza Stark Mode of inheritance for gene: CEP89 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mitochondrial disease v0.4 | CEP89 | Zornitza Stark Classified gene: CEP89 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mitochondrial disease v0.4 | CEP89 | Zornitza Stark Gene: cep89 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mitochondrial disease v0.3 | CEP89 | Zornitza Stark reviewed gene: CEP89: Rating: AMBER; Mode of pathogenicity: None; Publications: 23575228; Phenotypes: Mitochondrial complex IV deficiency; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.8 | CEP89 | Zornitza Stark reviewed gene: CEP89: Rating: AMBER; Mode of pathogenicity: None; Publications: 23575228; Phenotypes: Mitochondrial complex IV deficiency; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Callosome v0.13 | CEP63 | Zornitza Stark Marked gene: CEP63 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Callosome v0.13 | CEP63 | Zornitza Stark Gene: cep63 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Callosome v0.13 | CEP63 | Zornitza Stark Phenotypes for gene: CEP63 were changed from to Seckel syndrome 6, MIM#614728 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Callosome v0.12 | CEP63 | Zornitza Stark Publications for gene: CEP63 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Callosome v0.11 | CEP63 | Zornitza Stark Mode of inheritance for gene: CEP63 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Callosome v0.10 | CEP63 | Zornitza Stark Classified gene: CEP63 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Callosome v0.10 | CEP63 | Zornitza Stark Gene: cep63 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v0.102 | CEP63 | Zornitza Stark Marked gene: CEP63 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v0.102 | CEP63 | Zornitza Stark Gene: cep63 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v0.102 | CEP63 | Zornitza Stark Phenotypes for gene: CEP63 were changed from to Seckel syndrome 6, MIM#614728 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v0.101 | CEP63 | Zornitza Stark Publications for gene: CEP63 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v0.100 | CEP63 | Zornitza Stark Mode of inheritance for gene: CEP63 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v0.99 | CEP63 | Zornitza Stark Classified gene: CEP63 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v0.99 | CEP63 | Zornitza Stark Gene: cep63 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Microcephaly v0.9 | CEP63 | Zornitza Stark Marked gene: CEP63 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Microcephaly v0.9 | CEP63 | Zornitza Stark Gene: cep63 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Microcephaly v0.9 | CEP63 | Zornitza Stark Phenotypes for gene: CEP63 were changed from to Seckel syndrome 6, MIM#614728 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Microcephaly v0.8 | CEP63 | Zornitza Stark Publications for gene: CEP63 were set to 21983783; 26158450 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Microcephaly v0.8 | CEP63 | Zornitza Stark Publications for gene: CEP63 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Microcephaly v0.7 | CEP63 | Zornitza Stark Mode of inheritance for gene: CEP63 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Microcephaly v0.6 | CEP63 | Zornitza Stark Classified gene: CEP63 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Microcephaly v0.6 | CEP63 | Zornitza Stark Gene: cep63 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Microcephaly v0.5 | CEP63 | Zornitza Stark reviewed gene: CEP63: Rating: AMBER; Mode of pathogenicity: None; Publications: 21983783, 26158450; Phenotypes: Seckel syndrome 6, MIM#614728; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.8 | CEP63 | Zornitza Stark reviewed gene: CEP63: Rating: AMBER; Mode of pathogenicity: None; Publications: 21983783, 26158450; Phenotypes: Seckel syndrome 6, MIM#614728; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.8 | CDT1 | Zornitza Stark reviewed gene: CDT1: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Meier-Gorlin syndrome 4, MIM#613804; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.8 | KIF1BP | Zornitza Stark Marked gene: KIF1BP as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.8 | KIF1BP | Zornitza Stark Gene: kif1bp has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.8 | KIF1BP | Zornitza Stark Classified gene: KIF1BP as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.8 | KIF1BP | Zornitza Stark Gene: kif1bp has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.7 | KIF1BP |
Zornitza Stark gene: KIF1BP was added gene: KIF1BP was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert list Mode of inheritance for gene: KIF1BP was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: KIF1BP were set to Goldberg-Shprintzen megacolon syndrome 609460 Review for gene: KIF1BP was set to GREEN Added comment: Sources: Expert list |
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| Mendeliome v0.97 | CDK6 | Zornitza Stark Marked gene: CDK6 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v0.97 | CDK6 | Zornitza Stark Gene: cdk6 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v0.97 | CDK6 | Zornitza Stark Phenotypes for gene: CDK6 were changed from to Microcephaly 12, primary, autosomal recessive, MIM#616080 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v0.96 | CDK6 | Zornitza Stark Publications for gene: CDK6 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v0.95 | CDK6 | Zornitza Stark Mode of inheritance for gene: CDK6 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v0.94 | CDK6 | Zornitza Stark Classified gene: CDK6 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v0.94 | CDK6 | Zornitza Stark Gene: cdk6 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Microcephaly v0.5 | CDK6 | Zornitza Stark Marked gene: CDK6 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Microcephaly v0.5 | CDK6 | Zornitza Stark Gene: cdk6 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Microcephaly v0.5 | CDK6 | Zornitza Stark Phenotypes for gene: CDK6 were changed from to Microcephaly 12, primary, autosomal recessive, MIM#616080 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Microcephaly v0.4 | CDK6 | Zornitza Stark Publications for gene: CDK6 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Microcephaly v0.3 | CDK6 | Zornitza Stark Mode of inheritance for gene: CDK6 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Microcephaly v0.2 | CDK6 | Zornitza Stark Classified gene: CDK6 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Microcephaly v0.2 | CDK6 | Zornitza Stark Gene: cdk6 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Microcephaly v0.1 | CDK6 | Zornitza Stark reviewed gene: CDK6: Rating: AMBER; Mode of pathogenicity: None; Publications: 23918663; Phenotypes: Microcephaly 12, primary, autosomal recessive, MIM#616080; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.6 | CDK6 | Zornitza Stark reviewed gene: CDK6: Rating: AMBER; Mode of pathogenicity: None; Publications: 23918663; Phenotypes: Microcephaly 12, primary, autosomal recessive, MIM#616080; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.6 | CDK16 | Zornitza Stark reviewed gene: CDK16: Rating: AMBER; Mode of pathogenicity: None; Publications: 25644381; Phenotypes: Intellectual disability; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v0.92 | CD96 | Zornitza Stark Marked gene: CD96 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v0.92 | CD96 | Zornitza Stark Gene: cd96 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v0.92 | CD96 | Zornitza Stark Phenotypes for gene: CD96 were changed from to C syndrome, MIM#211750 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v0.91 | CD96 | Zornitza Stark Publications for gene: CD96 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v0.90 | CD96 | Zornitza Stark Mode of inheritance for gene: CD96 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v0.89 | CD96 | Zornitza Stark Classified gene: CD96 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v0.89 | CD96 | Zornitza Stark Gene: cd96 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Callosome v0.8 | CD96 | Zornitza Stark Marked gene: CD96 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Callosome v0.8 | CD96 | Zornitza Stark Gene: cd96 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Callosome v0.8 | CD96 | Zornitza Stark Phenotypes for gene: CD96 were changed from to C syndrome, MIM#211750 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Callosome v0.7 | CD96 | Zornitza Stark Publications for gene: CD96 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Callosome v0.6 | CD96 | Zornitza Stark Mode of inheritance for gene: CD96 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Callosome v0.5 | CD96 | Zornitza Stark Classified gene: CD96 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Callosome v0.5 | CD96 | Zornitza Stark Gene: cd96 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Polydactyly v0.5 | CD96 | Zornitza Stark Marked gene: CD96 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Polydactyly v0.5 | CD96 | Zornitza Stark Gene: cd96 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Polydactyly v0.5 | CD96 | Zornitza Stark Phenotypes for gene: CD96 were changed from to C syndrome, MIM#211750 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Polydactyly v0.4 | CD96 | Zornitza Stark Publications for gene: CD96 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Polydactyly v0.3 | CD96 | Zornitza Stark Mode of inheritance for gene: CD96 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Polydactyly v0.2 | CD96 | Zornitza Stark Classified gene: CD96 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Polydactyly v0.2 | CD96 | Zornitza Stark Gene: cd96 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.6 | CD96 | Zornitza Stark reviewed gene: CD96: Rating: AMBER; Mode of pathogenicity: None; Publications: 17847009; Phenotypes: C syndrome, MIM#211750; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v0.87 | WDFY3 | Zornitza Stark Marked gene: WDFY3 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v0.87 | WDFY3 | Zornitza Stark Gene: wdfy3 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v0.87 | WDFY3 | Zornitza Stark Phenotypes for gene: WDFY3 were changed from to Microcephaly 18, primary, autosomal dominant, MIM#617520 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v0.86 | WDFY3 | Zornitza Stark Publications for gene: WDFY3 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v0.85 | WDFY3 | Zornitza Stark Mode of inheritance for gene: WDFY3 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v0.83 | SALL3 | Zornitza Stark Marked gene: SALL3 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v0.83 | SALL3 | Zornitza Stark Gene: sall3 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v0.83 | SALL3 | Zornitza Stark Classified gene: SALL3 as Red List (low evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v0.83 | SALL3 | Zornitza Stark Gene: sall3 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v0.82 | SALL3 | Zornitza Stark reviewed gene: SALL3: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v0.82 | CCDC8 | Zornitza Stark Marked gene: CCDC8 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v0.82 | CCDC8 | Zornitza Stark Gene: ccdc8 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v0.82 | CCDC8 | Zornitza Stark Phenotypes for gene: CCDC8 were changed from to 3-M syndrome 3, MIM#614205 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v0.81 | CCDC8 | Zornitza Stark Publications for gene: CCDC8 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v0.80 | CCDC8 | Zornitza Stark Mode of inheritance for gene: CCDC8 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v0.79 | CCDC8 | Zornitza Stark reviewed gene: CCDC8: Rating: GREEN; Mode of pathogenicity: None; Publications: 21737058; Phenotypes: 3-M syndrome 3, MIM#614205; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.6 | CCDC8 | Zornitza Stark reviewed gene: CCDC8: Rating: RED; Mode of pathogenicity: None; Publications: 21737058; Phenotypes: 3-M syndrome 3, MIM#614205; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v0.79 | CCDC78 | Zornitza Stark Marked gene: CCDC78 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v0.79 | CCDC78 | Zornitza Stark Gene: ccdc78 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v0.79 | CCDC78 | Zornitza Stark Phenotypes for gene: CCDC78 were changed from to Centronuclear myopathy 4, MIM#614807 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v0.78 | CCDC78 | Zornitza Stark Publications for gene: CCDC78 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v0.77 | CCDC78 | Zornitza Stark Mode of inheritance for gene: CCDC78 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v0.76 | CCDC78 | Zornitza Stark Classified gene: CCDC78 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v0.76 | CCDC78 | Zornitza Stark Gene: ccdc78 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.6 | CCDC78 | Zornitza Stark reviewed gene: CCDC78: Rating: AMBER; Mode of pathogenicity: None; Publications: 22818856; Phenotypes: Centronuclear myopathy 4, MIM#614807; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Genetic Epilepsy v0.11 | CACNA1G | Zornitza Stark Marked gene: CACNA1G as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Genetic Epilepsy v0.11 | CACNA1G | Zornitza Stark Added comment: Comment when marking as ready: 2/4 reported patients had epilepsy. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Genetic Epilepsy v0.11 | CACNA1G | Zornitza Stark Gene: cacna1g has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Genetic Epilepsy v0.11 | CACNA1G | Zornitza Stark Phenotypes for gene: CACNA1G were changed from to Spinocerebellar ataxia 42, early-onset, severe, with neurodevelopmental deficits, MIM#618087 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Genetic Epilepsy v0.10 | CACNA1G | Zornitza Stark Publications for gene: CACNA1G were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Genetic Epilepsy v0.9 | CACNA1G | Zornitza Stark Mode of inheritance for gene: CACNA1G was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v0.74 | CACNA1G | Zornitza Stark Marked gene: CACNA1G as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v0.74 | CACNA1G | Zornitza Stark Gene: cacna1g has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v0.74 | CACNA1G | Zornitza Stark Phenotypes for gene: CACNA1G were changed from to Spinocerebellar ataxia 42, early-onset, severe, with neurodevelopmental deficits, MIM#618087 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v0.73 | CACNA1G | Zornitza Stark Publications for gene: CACNA1G were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v0.72 | CACNA1G | Zornitza Stark Mode of inheritance for gene: CACNA1G was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.6 | CACNA1G | Zornitza Stark reviewed gene: CACNA1G: Rating: GREEN; Mode of pathogenicity: None; Publications: 29878067; Phenotypes: Spinocerebellar ataxia 42, early-onset, severe, with neurodevelopmental deficits, MIM#618087; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Genetic Epilepsy v0.7 | CACNA1E | Zornitza Stark Marked gene: CACNA1E as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Genetic Epilepsy v0.7 | CACNA1E | Zornitza Stark Gene: cacna1e has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Genetic Epilepsy v0.7 | CACNA1E | Zornitza Stark Phenotypes for gene: CACNA1E were changed from to Epileptic encephalopathy, early infantile, 69, MIM#618285 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Genetic Epilepsy v0.6 | CACNA1E | Zornitza Stark Publications for gene: CACNA1E were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Genetic Epilepsy v0.5 | CACNA1E | Zornitza Stark Mode of inheritance for gene: CACNA1E was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.6 | CACNA1E |
Zornitza Stark gene: CACNA1E was added gene: CACNA1E was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert list Mode of inheritance for gene: CACNA1E was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: CACNA1E were set to 30343943 Phenotypes for gene: CACNA1E were set to Epileptic encephalopathy, early infantile, 69, MIM#618285 Review for gene: CACNA1E was set to GREEN gene: CACNA1E was marked as current diagnostic Added comment: At least 30 unrelated patients reported with heterozygous variants in this gene; primarily a seizure disorder, often with profound intellectual disability. Sources: Expert list |
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| Regression v0.10 | CA8 | Zornitza Stark Marked gene: CA8 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Regression v0.10 | CA8 | Zornitza Stark Gene: ca8 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Regression v0.10 | CA8 | Zornitza Stark Phenotypes for gene: CA8 were changed from to Cerebellar ataxia and mental retardation with or without quadrupedal locomotion 3, MIM#613227 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Regression v0.9 | CA8 | Zornitza Stark Publications for gene: CA8 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Regression v0.8 | CA8 | Zornitza Stark Mode of inheritance for gene: CA8 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v0.69 | CA8 | Zornitza Stark Marked gene: CA8 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v0.69 | CA8 | Zornitza Stark Gene: ca8 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.5 | CA8 | Zornitza Stark reviewed gene: CA8: Rating: GREEN; Mode of pathogenicity: None; Publications: 21937992, 19461874; Phenotypes: Cerebellar ataxia and mental retardation with or without quadrupedal locomotion 3, MIM#613227; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.5 | CA2 | Zornitza Stark reviewed gene: CA2: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Osteopetrosis, autosomal recessive 3, with renal tubular acidosis, MIM#259730; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.5 | C19orf12 | Zornitza Stark reviewed gene: C19orf12: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Neurodegeneration with brain iron accumulation 4, MIM#614298; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Early-onset Parkinson disease v0.2 | PDE8B | Zornitza Stark Marked gene: PDE8B as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Early-onset Parkinson disease v0.2 | PDE8B | Zornitza Stark Gene: pde8b has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Early-onset Parkinson disease v0.2 | PDE8B | Zornitza Stark Classified gene: PDE8B as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Early-onset Parkinson disease v0.2 | PDE8B | Zornitza Stark Gene: pde8b has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Early-onset Parkinson disease v0.1 | PDE8B |
Zornitza Stark gene: PDE8B was added gene: PDE8B was added to Early onset Parkinson disease_MelbourneGenomics_VCGS. Sources: Expert Review Mode of inheritance for gene: PDE8B was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: PDE8B were set to 20085714; 26769607; 26475694 Phenotypes for gene: PDE8B were set to Striatal degeneration, autosomal dominant, MIM#609161 Review for gene: PDE8B was set to GREEN Added comment: Movement disorder due to basal ganglia abnormalities, at least three families reported with heterozygous variants in this gene. Sources: Expert Review |
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| Regression v0.6 | IFIH1 | Zornitza Stark Marked gene: IFIH1 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Regression v0.6 | IFIH1 | Zornitza Stark Gene: ifih1 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Regression v0.6 | IFIH1 | Zornitza Stark Classified gene: IFIH1 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Regression v0.6 | IFIH1 | Zornitza Stark Gene: ifih1 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Regression v0.5 | IFIH1 |
Zornitza Stark gene: IFIH1 was added gene: IFIH1 was added to Regression_VCGS. Sources: Expert Review Mode of inheritance for gene: IFIH1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: IFIH1 were set to 24686847 Phenotypes for gene: IFIH1 were set to Aicardi-Goutieres syndrome 7, MIM#615846 Mode of pathogenicity for gene: IFIH1 was set to Other Review for gene: IFIH1 was set to GREEN Added comment: Gain-of-function variants in this gene cause AGS, some affected individuals experience episodic neurological regression Sources: Expert Review |
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| Regression v0.4 | TBCD | Zornitza Stark Marked gene: TBCD as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Regression v0.4 | TBCD | Zornitza Stark Gene: tbcd has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Regression v0.4 | TBCD | Zornitza Stark Classified gene: TBCD as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Regression v0.4 | TBCD | Zornitza Stark Gene: tbcd has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Regression v0.3 | TBCD |
Zornitza Stark gene: TBCD was added gene: TBCD was added to Regression_VCGS. Sources: Expert Review Mode of inheritance for gene: TBCD was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: TBCD were set to 27666370; 27666374 Phenotypes for gene: TBCD were set to Encephalopathy, progressive, early-onset, with brain atrophy and thin corpus callosum, MIM#617193 Review for gene: TBCD was set to GREEN Added comment: 15 children from 9 unrelated families with bi-allelic variants in this gene and a progressive neurodegenerative encephalopathy. Sources: Expert Review |
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| Intellectual disability syndromic and non-syndromic v0.5 | BSND | Zornitza Stark reviewed gene: BSND: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Bartter syndrome, type 4a, MIM#602522; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.5 | BRAT1 | Zornitza Stark reviewed gene: BRAT1: Rating: GREEN; Mode of pathogenicity: None; Publications: 26483087, 26494257, 27282546; Phenotypes: Neurodevelopmental disorder with cerebellar atrophy and with or without seizures, MIM#618056; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.5 | BMPER | Zornitza Stark reviewed gene: BMPER: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Diaphanospondylodysostosis, MIM#608022; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.5 | BICD2 | Zornitza Stark reviewed gene: BICD2: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Spinal muscular atrophy, lower extremity-predominant, 2A, autosomal dominant, MIM#615290; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v0.65 | BDNF | Zornitza Stark Marked gene: BDNF as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v0.65 | BDNF | Zornitza Stark Gene: bdnf has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v0.65 | BDNF | Zornitza Stark Classified gene: BDNF as Red List (low evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v0.65 | BDNF | Zornitza Stark Gene: bdnf has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v0.64 | BDNF | Zornitza Stark reviewed gene: BDNF: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Central hypoventilation syndrome, congenital, MIM#209880; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Central Hypoventilation v0.1 | BDNF | Zornitza Stark Marked gene: BDNF as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Central Hypoventilation v0.1 | BDNF | Zornitza Stark Gene: bdnf has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Central Hypoventilation v0.1 | BDNF | Zornitza Stark Classified gene: BDNF as Red List (low evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Central Hypoventilation v0.1 | BDNF | Zornitza Stark Gene: bdnf has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Central Hypoventilation v0.0 | BDNF | Zornitza Stark reviewed gene: BDNF: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Central hypoventilation syndrome, congenital, MIM#209880; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.5 | BDNF | Zornitza Stark reviewed gene: BDNF: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Central hypoventilation syndrome, congenital, MIM#209880; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v0.64 | BBIP1 | Zornitza Stark Marked gene: BBIP1 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v0.64 | BBIP1 | Zornitza Stark Gene: bbip1 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v0.64 | BBIP1 | Zornitza Stark Classified gene: BBIP1 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v0.64 | BBIP1 | Zornitza Stark Gene: bbip1 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Renal Ciliopathies and Nephronophthisis v0.0 | BBIP1 | Zornitza Stark reviewed gene: BBIP1: Rating: AMBER; Mode of pathogenicity: None; Publications: 24026985; Phenotypes: Bardet-Biedl syndrome 18, MIM#615995; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.5 | BBIP1 | Zornitza Stark reviewed gene: BBIP1: Rating: AMBER; Mode of pathogenicity: None; Publications: 24026985; Phenotypes: Bardet-Biedl syndrome 18, MIM#615995; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.5 | B9D2 | Zornitza Stark reviewed gene: B9D2: Rating: GREEN; Mode of pathogenicity: None; Publications: 26092869, 21763481; Phenotypes: Joubert syndrome 34, MIM#614175, Meckel syndrome 10, MIM#614175; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.5 | B9D1 | Zornitza Stark reviewed gene: B9D1: Rating: GREEN; Mode of pathogenicity: None; Publications: 24886560, 21493627; Phenotypes: Joubert syndrome 27, MIM#617120, Meckel syndrome 9, MIM#614209; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Congenital Disorders of Glycosylation v0.0 | B4GALT1 | Zornitza Stark Marked gene: B4GALT1 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Congenital Disorders of Glycosylation v0.0 | B4GALT1 | Zornitza Stark Gene: b4galt1 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Congenital Disorders of Glycosylation v0.0 | B4GALT1 | Zornitza Stark reviewed gene: B4GALT1: Rating: GREEN; Mode of pathogenicity: None; Publications: 11901181, 30653653, 21920538; Phenotypes: Congenital disorder of glycosylation, type Iid, MIM#607091; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.5 | B4GALT1 | Zornitza Stark reviewed gene: B4GALT1: Rating: GREEN; Mode of pathogenicity: None; Publications: 11901181, 30653653, 21920538; Phenotypes: Congenital disorder of glycosylation, type Iid, MIM#607091; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.5 | B3GAT3 | Zornitza Stark reviewed gene: B3GAT3: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Multiple joint dislocations, short stature, craniofacial dysmorphism, with or without congenital heart defects, MIM#245600; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.5 | B3GALT6 | Zornitza Stark reviewed gene: B3GALT6: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: Ehlers-Danlos syndrome, spondylodysplastic type, 2, MIM#615349, Spondyloepimetaphyseal dysplasia with joint laxity, type 1, with or without fractures, MIM#271640; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Renal Tubulointerstitial Disease v0.7 | Zornitza Stark removed gene:ATP6V0A4 from the panel | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Renal Tubulointerstitial Disease v0.6 | Zornitza Stark removed gene:AQP2 from the panel | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Renal Macrocystic Disease v0.9 | Zornitza Stark removed gene:ALMS1 from the panel | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Renal Macrocystic Disease v0.8 | Zornitza Stark removed gene:ACTN4 from the panel | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Autism v0.5 | SYNE1 | Zornitza Stark Marked gene: SYNE1 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Autism v0.5 | SYNE1 | Zornitza Stark Gene: syne1 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Autism v0.5 | SYNE1 | Zornitza Stark Classified gene: SYNE1 as Red List (low evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Autism v0.5 | SYNE1 | Zornitza Stark Gene: syne1 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Autism v0.4 | SYNE1 | Zornitza Stark reviewed gene: SYNE1: Rating: RED; Mode of pathogenicity: None; Publications: 23352163; Phenotypes: Autism; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Arthrogryposis v0.3 | SYNE1 | Zornitza Stark Marked gene: SYNE1 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Arthrogryposis v0.3 | SYNE1 | Zornitza Stark Gene: syne1 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Arthrogryposis v0.3 | SYNE1 | Zornitza Stark Classified gene: SYNE1 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Arthrogryposis v0.3 | SYNE1 | Zornitza Stark Gene: syne1 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Arthrogryposis v0.2 | SYNE1 |
Zornitza Stark gene: SYNE1 was added gene: SYNE1 was added to Arthrogryposis_VCGS. Sources: Literature Mode of inheritance for gene: SYNE1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: SYNE1 were set to 27782104 Phenotypes for gene: SYNE1 were set to Distal arthrogryposis Review for gene: SYNE1 was set to GREEN Added comment: Three families reported with bi-allelic distal truncating variants in this gene (KASH domain). This appears to be a specific genotype-phenotype correlation with variants elsewhere in the gene causing different phenotypes. Sources: Literature |
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| Intellectual disability syndromic and non-syndromic v0.5 | AVPR2 | Zornitza Stark reviewed gene: AVPR2: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Diabetes insipidus, nephrogenic, MIM#304800; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.5 | AVPR1A | Zornitza Stark reviewed gene: AVPR1A: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.5 | AVP | Zornitza Stark reviewed gene: AVP: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Diabetes insipidus, neurohypophyseal, MIM#125700; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.5 | ATXN10 | Zornitza Stark reviewed gene: ATXN10: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Spinocerebellar ataxia 10, MIM#603516; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.5 | ATP8A2 | Zornitza Stark reviewed gene: ATP8A2: Rating: ; Mode of pathogenicity: None; Publications: 22892528, 31612321; Phenotypes: Cerebellar ataxia, mental retardation, and dysequilibrium syndrome 4, MIM#615268; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.5 | ATP6AP1 |
Zornitza Stark gene: ATP6AP1 was added gene: ATP6AP1 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert list Mode of inheritance for gene: ATP6AP1 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Publications for gene: ATP6AP1 were set to 27231034 Phenotypes for gene: ATP6AP1 were set to Immunodeficiency 47, MIM#300972 Review for gene: ATP6AP1 was set to GREEN gene: ATP6AP1 was marked as current diagnostic Added comment: 11 males from 6 unrelated families with primarily an immunodeficiency disorder; six patients from 3 families who carried the same variant (E346K) had neurologic features, including seizures, mild intellectual disability, and behavioral abnormalities Sources: Expert list |
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| Intellectual disability syndromic and non-syndromic v0.4 | ATP2B3 | Zornitza Stark reviewed gene: ATP2B3: Rating: RED; Mode of pathogenicity: None; Publications: 22912398, 27653636; Phenotypes: Spinocerebellar ataxia, X-linked 1, MIM#302500; Mode of inheritance: None | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.4 | ATP2A2 | Zornitza Stark reviewed gene: ATP2A2: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Darier disease, MIM#124200; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.4 | ATP1A3 | Zornitza Stark reviewed gene: ATP1A3: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: Alternating hemiplegia of childhood 2, MIM#614820; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.4 | ATP10A | Zornitza Stark reviewed gene: ATP10A: Rating: RED; Mode of pathogenicity: None; Publications: 31696658; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.4 | ATAD1 |
Zornitza Stark gene: ATAD1 was added gene: ATAD1 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert list Mode of inheritance for gene: ATAD1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: ATAD1 were set to 28180185 Phenotypes for gene: ATAD1 were set to Hyperekplexia 4, MIM#618011 Review for gene: ATAD1 was set to GREEN gene: ATAD1 was marked as current diagnostic Added comment: Severe progressive neurological disorder, severe/profound intellectual disability is a feature Sources: Expert list |
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| Intellectual disability syndromic and non-syndromic v0.3 | ASTN1 |
Zornitza Stark gene: ASTN1 was added gene: ASTN1 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert list Mode of inheritance for gene: ASTN1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: ASTN1 were set to 29706646; 27431290; 26539891 Review for gene: ASTN1 was set to GREEN gene: ASTN1 was marked as current diagnostic Added comment: Three families reported as part of large cohorts albeit proposing multiple novel candidate genes with minimal detail and no functional validation. Sources: Expert list |
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| Intellectual disability syndromic and non-syndromic v0.2 | ASNS | Zornitza Stark reviewed gene: ASNS: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Asparagine synthetase deficiency, MIM#615574; Mode of inheritance: None | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.2 | ASL | Zornitza Stark reviewed gene: ASL: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Argininosuccinic aciduria, MIM#207900; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.2 | ASH1L |
Zornitza Stark gene: ASH1L was added gene: ASH1L was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert list Mode of inheritance for gene: ASH1L was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: ASH1L were set to 23033978; 25961944; 28394464; 28191889; 27824329 Phenotypes for gene: ASH1L were set to Mental retardation, autosomal dominant 52, MIM#617796 Review for gene: ASH1L was set to GREEN gene: ASH1L was marked as current diagnostic Added comment: Multiple cases with de novo variants and intellectual disability reported as part of large cohorts identifying multiple candidate genes. Sources: Expert list |
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| Intellectual disability syndromic and non-syndromic v0.1 | ARNT2 | Zornitza Stark reviewed gene: ARNT2: Rating: AMBER; Mode of pathogenicity: None; Publications: 24022475; Phenotypes: Webb-Dattani syndrome 615926; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.1 | ARHGAP31 | Zornitza Stark reviewed gene: ARHGAP31: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: Adams-Oliver syndrome 1, MIM#100300; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.1 | APTX | Zornitza Stark reviewed gene: APTX: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia, MIM#208920; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.1 | ANKH | Zornitza Stark reviewed gene: ANKH: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Craniometaphyseal dysplasia, MIM#123000; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.1 | ALX3 | Zornitza Stark reviewed gene: ALX3: Rating: GREEN; Mode of pathogenicity: None; Publications: 19409524; Phenotypes: Frontonasal dysplasia 1, MIM#136760; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Frontonasal dysplasia v0.0 | ALX1 | Zornitza Stark Marked gene: ALX1 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Frontonasal dysplasia v0.0 | ALX1 | Zornitza Stark Gene: alx1 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Frontonasal dysplasia v0.0 | ALX1 | Zornitza Stark reviewed gene: ALX1: Rating: GREEN; Mode of pathogenicity: None; Publications: 27324866, 20451171, 23059813; Phenotypes: Frontonasal dysplasia 3, MIM#613456; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.1 | ALX1 | Zornitza Stark reviewed gene: ALX1: Rating: AMBER; Mode of pathogenicity: None; Publications: 27324866, 20451171, 23059813; Phenotypes: Frontonasal dysplasia 3, MIM#613456; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.1 | ALS2 | Zornitza Stark reviewed gene: ALS2: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Spastic paralysis, infantile onset ascending, MIM#607225; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.1 | ABAT | Zornitza Stark edited their review of gene: ABAT: Changed mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v0.62 | ADD3 | Zornitza Stark Marked gene: ADD3 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v0.62 | ADD3 | Zornitza Stark Gene: add3 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v0.62 | ADD3 | Zornitza Stark Classified gene: ADD3 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v0.62 | ADD3 | Zornitza Stark Gene: add3 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v0.61 | ADD3 |
Zornitza Stark gene: ADD3 was added gene: ADD3 was added to Mendeliome_VCGS. Sources: Expert list Mode of inheritance for gene: ADD3 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: ADD3 were set to 29768408; 23836506 Phenotypes for gene: ADD3 were set to Cerebral palsy, spastic quadriplegic, 3, MIM#617008 Added comment: Four families reported in the literature with bi-allelic variants in this gene causing intellectual disability. Sources: Expert list |
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| Congenital Disorders of Glycosylation v0.0 | ALG14 | Zornitza Stark reviewed gene: ALG14: Rating: GREEN; Mode of pathogenicity: None; Publications: 30221345, 23404334, 28733338; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.0 | ALG14 | Zornitza Stark edited their review of gene: ALG14: Added comment: 5 individuals from unrelated families described in the literature: one with myasthenic syndrome, no report of ID; second with predominantly ID phenotype; and three more with a neurodegenerative phenotype.; Changed rating: GREEN; Changed publications: 30221345, 23404334, 28733338 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.0 | ALG14 | Zornitza Stark reviewed gene: ALG14: Rating: AMBER; Mode of pathogenicity: None; Publications: 30221345, 23404334; Phenotypes: Myasthenic syndrome, congenital, 15, without tubular aggregates, MIM#616227, Intellectual disability; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.0 | ALDOB | Zornitza Stark reviewed gene: ALDOB: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Fructose intolerance, hereditary, MIM#229600; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.0 | ALDOA | Zornitza Stark reviewed gene: ALDOA: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: Glycogen storage disease XII, MIM#611881; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.0 | AKR1C2 | Zornitza Stark reviewed gene: AKR1C2: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: 46XY sex reversal 8, MIM#614279; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.0 | AHCY | Zornitza Stark reviewed gene: AHCY: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Hypermethioninemia with deficiency of S-adenosylhomocysteine hydrolase, MIM#613752; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.0 | AGTR2 | Zornitza Stark reviewed gene: AGTR2: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.0 | AGT | Zornitza Stark reviewed gene: AGT: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Renal tubular dysgenesis, MIM#267430; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.0 | AGPS | Zornitza Stark reviewed gene: AGPS: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Rhizomelic chondrodysplasia punctata, type 3, MIM#600121; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.0 | AGK | Zornitza Stark reviewed gene: AGK: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Sengers syndrome, MIM#212350; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.0 | AGGF1 | Zornitza Stark reviewed gene: AGGF1: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.0 | AGA | Zornitza Stark reviewed gene: AGA: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Aspartylglucosaminuria, MIM#208400; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.0 | AFG3L2 | Zornitza Stark reviewed gene: AFG3L2: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Spastic ataxia 5, autosomal recessive, MIM#614487; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.0 | ADD3 | Zornitza Stark reviewed gene: ADD3: Rating: GREEN; Mode of pathogenicity: None; Publications: 29768408, 23836506; Phenotypes: Cerebral palsy, spastic quadriplegic, 3, MIM#617008; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.0 | ADCY5 | Zornitza Stark reviewed gene: ADCY5: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Dyskinesia, familial, with facial myokymia, MIM#606703; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.0 | ADAT3 | Zornitza Stark reviewed gene: ADAT3: Rating: GREEN; Mode of pathogenicity: None; Publications: 23620220, 26842963, 29796286; Phenotypes: Mental retardation, autosomal recessive 36, MIM#615286; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.0 | ADAMTSL2 | Zornitza Stark reviewed gene: ADAMTSL2: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Geleophysic dysplasia 1, MIM#231050; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.0 | ADAMTS10 | Zornitza Stark reviewed gene: ADAMTS10: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Weill-Marchesani syndrome 1, recessive, MIM#277600; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.0 | ADA2 | Zornitza Stark reviewed gene: ADA2: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Vasculitis, autoinflammation, immunodeficiency, and hematologic defects syndrome, MIM#615688; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.0 | ACTA1 | Zornitza Stark reviewed gene: ACTA1: Rating: RED; Mode of pathogenicity: None; Publications: 21514153; Phenotypes: Myopathy, actin, congenital, with excess of thin myofilaments, MIM#161800, Nemaline myopathy 3, MIM#161800, Myopathy, actin, congenital, with cores, MIM#161800; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.0 | ABCG5 | Zornitza Stark reviewed gene: ABCG5: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Sitosterolemia 2, MIM#618666; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.0 | ABCC6 | Zornitza Stark reviewed gene: ABCC6: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Arterial calcification, generalized, of infancy, 2, MIM#614473, Pseudoxanthoma elasticum, MIM#264800; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.0 | ABAT | Zornitza Stark reviewed gene: ABAT: Rating: ; Mode of pathogenicity: None; Publications: 10407778, 20052547, 27596361, 28411234,; Phenotypes: GABA-transaminase deficiency, MIM#613163; Mode of inheritance: None | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.0 | AAAS | Zornitza Stark reviewed gene: AAAS: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Achalasia-addisonianism-alacrimia syndrome, MIM#231550; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.0 | ZBTB11 |
Zornitza Stark gene: ZBTB11 was added gene: ZBTB11 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: ZBTB11 was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | YY1 |
Zornitza Stark gene: YY1 was added gene: YY1 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: YY1 was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | YWHAG |
Zornitza Stark gene: YWHAG was added gene: YWHAG was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: YWHAG was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | XRCC4 |
Zornitza Stark gene: XRCC4 was added gene: XRCC4 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: XRCC4 was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | XIST |
Zornitza Stark gene: XIST was added gene: XIST was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: XIST was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | WDR73 |
Zornitza Stark gene: WDR73 was added gene: WDR73 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: WDR73 was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | WDR45B |
Zornitza Stark gene: WDR45B was added gene: WDR45B was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: WDR45B was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | WDFY3 |
Zornitza Stark gene: WDFY3 was added gene: WDFY3 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: WDFY3 was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | WAC |
Zornitza Stark gene: WAC was added gene: WAC was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: WAC was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | VARS2 |
Zornitza Stark gene: VARS2 was added gene: VARS2 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: VARS2 was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | VAMP1 |
Zornitza Stark gene: VAMP1 was added gene: VAMP1 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: VAMP1 was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | USP18 |
Zornitza Stark gene: USP18 was added gene: USP18 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: USP18 was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | UNC13A |
Zornitza Stark gene: UNC13A was added gene: UNC13A was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: UNC13A was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | UBTF |
Zornitza Stark gene: UBTF was added gene: UBTF was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: UBTF was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | UBR4 |
Zornitza Stark gene: UBR4 was added gene: UBR4 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: UBR4 was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | UBA5 |
Zornitza Stark gene: UBA5 was added gene: UBA5 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: UBA5 was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | TXNL4A |
Zornitza Stark gene: TXNL4A was added gene: TXNL4A was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: TXNL4A was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | TUBG1 |
Zornitza Stark gene: TUBG1 was added gene: TUBG1 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: TUBG1 was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | TUBB2A |
Zornitza Stark gene: TUBB2A was added gene: TUBB2A was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: TUBB2A was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | TUBB |
Zornitza Stark gene: TUBB was added gene: TUBB was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: TUBB was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | TRMT1 |
Zornitza Stark gene: TRMT1 was added gene: TRMT1 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: TRMT1 was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | TRIT1 |
Zornitza Stark gene: TRIT1 was added gene: TRIT1 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: TRIT1 was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | TRIP13 |
Zornitza Stark gene: TRIP13 was added gene: TRIP13 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: TRIP13 was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | TRIM37 |
Zornitza Stark gene: TRIM37 was added gene: TRIM37 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: TRIM37 was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | TRAPPC6B |
Zornitza Stark gene: TRAPPC6B was added gene: TRAPPC6B was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: TRAPPC6B was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | TRAPPC6A |
Zornitza Stark gene: TRAPPC6A was added gene: TRAPPC6A was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: TRAPPC6A was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | TRAPPC12 |
Zornitza Stark gene: TRAPPC12 was added gene: TRAPPC12 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: TRAPPC12 was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | TRAK1 |
Zornitza Stark gene: TRAK1 was added gene: TRAK1 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: TRAK1 was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | TOE1 |
Zornitza Stark gene: TOE1 was added gene: TOE1 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: TOE1 was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | TNRC6B |
Zornitza Stark gene: TNRC6B was added gene: TNRC6B was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: TNRC6B was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | TMTC3 |
Zornitza Stark gene: TMTC3 was added gene: TMTC3 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: TMTC3 was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | TMLHE |
Zornitza Stark gene: TMLHE was added gene: TMLHE was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: TMLHE was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | TMEM260 |
Zornitza Stark gene: TMEM260 was added gene: TMEM260 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: TMEM260 was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | TLK2 |
Zornitza Stark gene: TLK2 was added gene: TLK2 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: TLK2 was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | THRA |
Zornitza Stark gene: THRA was added gene: THRA was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: THRA was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | THAP1 |
Zornitza Stark gene: THAP1 was added gene: THAP1 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: THAP1 was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | TCF20 |
Zornitza Stark gene: TCF20 was added gene: TCF20 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: TCF20 was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | TBR1 |
Zornitza Stark gene: TBR1 was added gene: TBR1 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: TBR1 was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | TBCK |
Zornitza Stark gene: TBCK was added gene: TBCK was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: TBCK was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | TBCD |
Zornitza Stark gene: TBCD was added gene: TBCD was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: TBCD was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | TBC1D23 |
Zornitza Stark gene: TBC1D23 was added gene: TBC1D23 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: TBC1D23 was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | TAZ |
Zornitza Stark gene: TAZ was added gene: TAZ was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: TAZ was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | TAOK1 |
Zornitza Stark gene: TAOK1 was added gene: TAOK1 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: TAOK1 was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | TANGO2 |
Zornitza Stark gene: TANGO2 was added gene: TANGO2 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: TANGO2 was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | TAF8 |
Zornitza Stark gene: TAF8 was added gene: TAF8 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: TAF8 was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | TAF6 |
Zornitza Stark gene: TAF6 was added gene: TAF6 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: TAF6 was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | TAF13 |
Zornitza Stark gene: TAF13 was added gene: TAF13 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: TAF13 was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | SURF1 |
Zornitza Stark gene: SURF1 was added gene: SURF1 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: SURF1 was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | STX1B |
Zornitza Stark gene: STX1B was added gene: STX1B was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: STX1B was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | STAG1 |
Zornitza Stark gene: STAG1 was added gene: STAG1 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: STAG1 was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | SPRTN |
Zornitza Stark gene: SPRTN was added gene: SPRTN was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: SPRTN was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | SPG11 |
Zornitza Stark gene: SPG11 was added gene: SPG11 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: SPG11 was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | SPECC1L |
Zornitza Stark gene: SPECC1L was added gene: SPECC1L was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: SPECC1L was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | SPART |
Zornitza Stark gene: SPART was added gene: SPART was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: SPART was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | SOX9 |
Zornitza Stark gene: SOX9 was added gene: SOX9 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: SOX9 was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | SON |
Zornitza Stark gene: SON was added gene: SON was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: SON was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | SNX14 |
Zornitza Stark gene: SNX14 was added gene: SNX14 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: SNX14 was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | SNRPA |
Zornitza Stark gene: SNRPA was added gene: SNRPA was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: SNRPA was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | SNORD118 |
Zornitza Stark gene: SNORD118 was added gene: SNORD118 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: SNORD118 was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | SMPD4 |
Zornitza Stark gene: SMPD4 was added gene: SMPD4 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: SMPD4 was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | SLC9A7 |
Zornitza Stark gene: SLC9A7 was added gene: SLC9A7 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: SLC9A7 was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | SLC6A9 |
Zornitza Stark gene: SLC6A9 was added gene: SLC6A9 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: SLC6A9 was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | SLC6A1 |
Zornitza Stark gene: SLC6A1 was added gene: SLC6A1 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: SLC6A1 was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | SLC46A1 |
Zornitza Stark gene: SLC46A1 was added gene: SLC46A1 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: SLC46A1 was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | SLC45A1 |
Zornitza Stark gene: SLC45A1 was added gene: SLC45A1 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: SLC45A1 was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | SLC39A8 |
Zornitza Stark gene: SLC39A8 was added gene: SLC39A8 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: SLC39A8 was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | SLC39A14 |
Zornitza Stark gene: SLC39A14 was added gene: SLC39A14 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: SLC39A14 was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | SLC25A24 |
Zornitza Stark gene: SLC25A24 was added gene: SLC25A24 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: SLC25A24 was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | SLC25A20 |
Zornitza Stark gene: SLC25A20 was added gene: SLC25A20 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: SLC25A20 was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | SLC12A5 |
Zornitza Stark gene: SLC12A5 was added gene: SLC12A5 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: SLC12A5 was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | SIN3A |
Zornitza Stark gene: SIN3A was added gene: SIN3A was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: SIN3A was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | SIK1 |
Zornitza Stark gene: SIK1 was added gene: SIK1 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: SIK1 was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | SHANK1 |
Zornitza Stark gene: SHANK1 was added gene: SHANK1 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: SHANK1 was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | SGPL1 |
Zornitza Stark gene: SGPL1 was added gene: SGPL1 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: SGPL1 was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | SETD1B |
Zornitza Stark gene: SETD1B was added gene: SETD1B was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: SETD1B was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | SET |
Zornitza Stark gene: SET was added gene: SET was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: SET was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | SCN3A |
Zornitza Stark gene: SCN3A was added gene: SCN3A was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: SCN3A was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | SAMD9 |
Zornitza Stark gene: SAMD9 was added gene: SAMD9 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: SAMD9 was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | RTEL1 |
Zornitza Stark gene: RTEL1 was added gene: RTEL1 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: RTEL1 was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | RPS23 |
Zornitza Stark gene: RPS23 was added gene: RPS23 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: RPS23 was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | RNF135 |
Zornitza Stark gene: RNF135 was added gene: RNF135 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: RNF135 was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | RNF125 |
Zornitza Stark gene: RNF125 was added gene: RNF125 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: RNF125 was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | RIMS1 |
Zornitza Stark gene: RIMS1 was added gene: RIMS1 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: RIMS1 was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | RHEB |
Zornitza Stark gene: RHEB was added gene: RHEB was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: RHEB was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | RERE |
Zornitza Stark gene: RERE was added gene: RERE was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: RERE was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | RAC3 |
Zornitza Stark gene: RAC3 was added gene: RAC3 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: RAC3 was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | RAC1 |
Zornitza Stark gene: RAC1 was added gene: RAC1 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: RAC1 was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | RAB11B |
Zornitza Stark gene: RAB11B was added gene: RAB11B was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: RAB11B was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | QRICH1 |
Zornitza Stark gene: QRICH1 was added gene: QRICH1 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: QRICH1 was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | PYCR2 |
Zornitza Stark gene: PYCR2 was added gene: PYCR2 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: PYCR2 was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | PUM1 |
Zornitza Stark gene: PUM1 was added gene: PUM1 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: PUM1 was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | PUF60 |
Zornitza Stark gene: PUF60 was added gene: PUF60 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: PUF60 was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | PTPN23 |
Zornitza Stark gene: PTPN23 was added gene: PTPN23 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: PTPN23 was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | PTF1A |
Zornitza Stark gene: PTF1A was added gene: PTF1A was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: PTF1A was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | PSMD12 |
Zornitza Stark gene: PSMD12 was added gene: PSMD12 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: PSMD12 was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | PRUNE1 |
Zornitza Stark gene: PRUNE1 was added gene: PRUNE1 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: PRUNE1 was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | PRRT2 |
Zornitza Stark gene: PRRT2 was added gene: PRRT2 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: PRRT2 was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | PRMT7 |
Zornitza Stark gene: PRMT7 was added gene: PRMT7 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: PRMT7 was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | PRKD1 |
Zornitza Stark gene: PRKD1 was added gene: PRKD1 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: PRKD1 was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | PPP3CA |
Zornitza Stark gene: PPP3CA was added gene: PPP3CA was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: PPP3CA was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | PPP1R15B |
Zornitza Stark gene: PPP1R15B was added gene: PPP1R15B was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: PPP1R15B was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | PPP1CB |
Zornitza Stark gene: PPP1CB was added gene: PPP1CB was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: PPP1CB was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | POLG |
Zornitza Stark gene: POLG was added gene: POLG was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: POLG was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | POGZ |
Zornitza Stark gene: POGZ was added gene: POGZ was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: POGZ was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | PLPBP |
Zornitza Stark gene: PLPBP was added gene: PLPBP was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: PLPBP was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | PLK4 |
Zornitza Stark gene: PLK4 was added gene: PLK4 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: PLK4 was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | PLAA |
Zornitza Stark gene: PLAA was added gene: PLAA was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: PLAA was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | PIGC |
Zornitza Stark gene: PIGC was added gene: PIGC was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: PIGC was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | PGM3 |
Zornitza Stark gene: PGM3 was added gene: PGM3 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: PGM3 was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | PEX26 |
Zornitza Stark gene: PEX26 was added gene: PEX26 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: PEX26 was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | PEX14 |
Zornitza Stark gene: PEX14 was added gene: PEX14 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: PEX14 was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | PEX1 |
Zornitza Stark gene: PEX1 was added gene: PEX1 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: PEX1 was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | PCLO |
Zornitza Stark gene: PCLO was added gene: PCLO was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: PCLO was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | PCGF2 |
Zornitza Stark gene: PCGF2 was added gene: PCGF2 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: PCGF2 was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | PCDH12 |
Zornitza Stark gene: PCDH12 was added gene: PCDH12 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: PCDH12 was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | PCDH10 |
Zornitza Stark gene: PCDH10 was added gene: PCDH10 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: PCDH10 was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | PBX1 |
Zornitza Stark gene: PBX1 was added gene: PBX1 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: PBX1 was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | PAX8 |
Zornitza Stark gene: PAX8 was added gene: PAX8 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: PAX8 was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | PAX7 |
Zornitza Stark gene: PAX7 was added gene: PAX7 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: PAX7 was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | PARN |
Zornitza Stark gene: PARN was added gene: PARN was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: PARN was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | PACS2 |
Zornitza Stark gene: PACS2 was added gene: PACS2 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: PACS2 was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | OTUD6B |
Zornitza Stark gene: OTUD6B was added gene: OTUD6B was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: OTUD6B was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | ORC4 |
Zornitza Stark gene: ORC4 was added gene: ORC4 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: ORC4 was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | NUP188 |
Zornitza Stark gene: NUP188 was added gene: NUP188 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: NUP188 was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | NSD2 |
Zornitza Stark gene: NSD2 was added gene: NSD2 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: NSD2 was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | NRXN2 |
Zornitza Stark gene: NRXN2 was added gene: NRXN2 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: NRXN2 was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | NR4A2 |
Zornitza Stark gene: NR4A2 was added gene: NR4A2 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: NR4A2 was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | NEXMIF |
Zornitza Stark gene: NEXMIF was added gene: NEXMIF was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: NEXMIF was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | NCKAP1 |
Zornitza Stark gene: NCKAP1 was added gene: NCKAP1 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: NCKAP1 was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | NANS |
Zornitza Stark gene: NANS was added gene: NANS was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: NANS was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | NACC1 |
Zornitza Stark gene: NACC1 was added gene: NACC1 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: NACC1 was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | NAA15 |
Zornitza Stark gene: NAA15 was added gene: NAA15 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: NAA15 was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | MYMK |
Zornitza Stark gene: MYMK was added gene: MYMK was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: MYMK was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | MTOR |
Zornitza Stark gene: MTOR was added gene: MTOR was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: MTOR was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | MSMO1 |
Zornitza Stark gene: MSMO1 was added gene: MSMO1 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: MSMO1 was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | MSL3 |
Zornitza Stark gene: MSL3 was added gene: MSL3 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: MSL3 was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | MICU1 |
Zornitza Stark gene: MICU1 was added gene: MICU1 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: MICU1 was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | MFF |
Zornitza Stark gene: MFF was added gene: MFF was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: MFF was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | MED25 |
Zornitza Stark gene: MED25 was added gene: MED25 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: MED25 was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | MED13 |
Zornitza Stark gene: MED13 was added gene: MED13 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: MED13 was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | MDH2 |
Zornitza Stark gene: MDH2 was added gene: MDH2 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: MDH2 was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | MBOAT7 |
Zornitza Stark gene: MBOAT7 was added gene: MBOAT7 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: MBOAT7 was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | MAP1B |
Zornitza Stark gene: MAP1B was added gene: MAP1B was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: MAP1B was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | MAF |
Zornitza Stark gene: MAF was added gene: MAF was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: MAF was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | MADD |
Zornitza Stark gene: MADD was added gene: MADD was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: MADD was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | MAB21L2 |
Zornitza Stark gene: MAB21L2 was added gene: MAB21L2 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: MAB21L2 was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | LONP1 |
Zornitza Stark gene: LONP1 was added gene: LONP1 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: LONP1 was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | LNPK |
Zornitza Stark gene: LNPK was added gene: LNPK was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: LNPK was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | LNP1 |
Zornitza Stark gene: LNP1 was added gene: LNP1 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: LNP1 was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | LINS1 |
Zornitza Stark gene: LINS1 was added gene: LINS1 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: LINS1 was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | LGI4 |
Zornitza Stark gene: LGI4 was added gene: LGI4 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: LGI4 was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | LARS2 |
Zornitza Stark gene: LARS2 was added gene: LARS2 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: LARS2 was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | LARGE1 |
Zornitza Stark gene: LARGE1 was added gene: LARGE1 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: LARGE1 was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | KNL1 |
Zornitza Stark gene: KNL1 was added gene: KNL1 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: KNL1 was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | KMT2E |
Zornitza Stark gene: KMT2E was added gene: KMT2E was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: KMT2E was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | KLHL7 |
Zornitza Stark gene: KLHL7 was added gene: KLHL7 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: KLHL7 was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | KLF7 |
Zornitza Stark gene: KLF7 was added gene: KLF7 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: KLF7 was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | KIF5C |
Zornitza Stark gene: KIF5C was added gene: KIF5C was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: KIF5C was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | KIF4A |
Zornitza Stark gene: KIF4A was added gene: KIF4A was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: KIF4A was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | KIF16B |
Zornitza Stark gene: KIF16B was added gene: KIF16B was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: KIF16B was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | KIF14 |
Zornitza Stark gene: KIF14 was added gene: KIF14 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: KIF14 was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | KIDINS220 |
Zornitza Stark gene: KIDINS220 was added gene: KIDINS220 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: KIDINS220 was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | KIAA1109 |
Zornitza Stark gene: KIAA1109 was added gene: KIAA1109 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: KIAA1109 was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | KIAA0586 |
Zornitza Stark gene: KIAA0586 was added gene: KIAA0586 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: KIAA0586 was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | KDM5B |
Zornitza Stark gene: KDM5B was added gene: KDM5B was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: KDM5B was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | KDM1A |
Zornitza Stark gene: KDM1A was added gene: KDM1A was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: KDM1A was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | KCTD3 |
Zornitza Stark gene: KCTD3 was added gene: KCTD3 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: KCTD3 was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | KCNQ5 |
Zornitza Stark gene: KCNQ5 was added gene: KCNQ5 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: KCNQ5 was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | KCNQ3 |
Zornitza Stark gene: KCNQ3 was added gene: KCNQ3 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: KCNQ3 was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | KCNMA1 |
Zornitza Stark gene: KCNMA1 was added gene: KCNMA1 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: KCNMA1 was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | KCNJ6 |
Zornitza Stark gene: KCNJ6 was added gene: KCNJ6 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: KCNJ6 was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | KCNH1 |
Zornitza Stark gene: KCNH1 was added gene: KCNH1 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: KCNH1 was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | KCNC1 |
Zornitza Stark gene: KCNC1 was added gene: KCNC1 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: KCNC1 was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | KCNA2 |
Zornitza Stark gene: KCNA2 was added gene: KCNA2 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: KCNA2 was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | KAT5 |
Zornitza Stark gene: KAT5 was added gene: KAT5 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: KAT5 was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | ITPA |
Zornitza Stark gene: ITPA was added gene: ITPA was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: ITPA was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | ISCA2 |
Zornitza Stark gene: ISCA2 was added gene: ISCA2 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: ISCA2 was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | IRF2BPL |
Zornitza Stark gene: IRF2BPL was added gene: IRF2BPL was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: IRF2BPL was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | INTS8 |
Zornitza Stark gene: INTS8 was added gene: INTS8 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: INTS8 was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | INTS1 |
Zornitza Stark gene: INTS1 was added gene: INTS1 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: INTS1 was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | INPP5K |
Zornitza Stark gene: INPP5K was added gene: INPP5K was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: INPP5K was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | IARS |
Zornitza Stark gene: IARS was added gene: IARS was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: IARS was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | HNRNPK |
Zornitza Stark gene: HNRNPK was added gene: HNRNPK was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: HNRNPK was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | HNRNPH2 |
Zornitza Stark gene: HNRNPH2 was added gene: HNRNPH2 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: HNRNPH2 was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | HIST1H4C |
Zornitza Stark gene: HIST1H4C was added gene: HIST1H4C was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: HIST1H4C was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | HIST1H1E |
Zornitza Stark gene: HIST1H1E was added gene: HIST1H1E was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: HIST1H1E was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | HERC1 |
Zornitza Stark gene: HERC1 was added gene: HERC1 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: HERC1 was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | HARS2 |
Zornitza Stark gene: HARS2 was added gene: HARS2 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: HARS2 was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | HADH |
Zornitza Stark gene: HADH was added gene: HADH was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: HADH was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | HACE1 |
Zornitza Stark gene: HACE1 was added gene: HACE1 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: HACE1 was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | H3F3B |
Zornitza Stark gene: H3F3B was added gene: H3F3B was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: H3F3B was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | H3F3A |
Zornitza Stark gene: H3F3A was added gene: H3F3A was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: H3F3A was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | GTPBP3 |
Zornitza Stark gene: GTPBP3 was added gene: GTPBP3 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: GTPBP3 was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | GTPBP2 |
Zornitza Stark gene: GTPBP2 was added gene: GTPBP2 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: GTPBP2 was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | GTF3C3 |
Zornitza Stark gene: GTF3C3 was added gene: GTF3C3 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: GTF3C3 was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | GTF2H5 |
Zornitza Stark gene: GTF2H5 was added gene: GTF2H5 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: GTF2H5 was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | GRID2 |
Zornitza Stark gene: GRID2 was added gene: GRID2 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: GRID2 was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | GRIA4 |
Zornitza Stark gene: GRIA4 was added gene: GRIA4 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: GRIA4 was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | GPT2 |
Zornitza Stark gene: GPT2 was added gene: GPT2 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: GPT2 was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | GPC3 |
Zornitza Stark gene: GPC3 was added gene: GPC3 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: GPC3 was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | GPAA1 |
Zornitza Stark gene: GPAA1 was added gene: GPAA1 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: GPAA1 was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | GNAI1 |
Zornitza Stark gene: GNAI1 was added gene: GNAI1 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: GNAI1 was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | GLIS3 |
Zornitza Stark gene: GLIS3 was added gene: GLIS3 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: GLIS3 was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | GEMIN4 |
Zornitza Stark gene: GEMIN4 was added gene: GEMIN4 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: GEMIN4 was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | GCH1 |
Zornitza Stark gene: GCH1 was added gene: GCH1 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: GCH1 was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | GALC |
Zornitza Stark gene: GALC was added gene: GALC was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: GALC was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | GABRB2 |
Zornitza Stark gene: GABRB2 was added gene: GABRB2 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: GABRB2 was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | FZD3 |
Zornitza Stark gene: FZD3 was added gene: FZD3 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: FZD3 was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | FTCD |
Zornitza Stark gene: FTCD was added gene: FTCD was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: FTCD was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | FLVCR2 |
Zornitza Stark gene: FLVCR2 was added gene: FLVCR2 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: FLVCR2 was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | FIBP |
Zornitza Stark gene: FIBP was added gene: FIBP was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: FIBP was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | FGF12 |
Zornitza Stark gene: FGF12 was added gene: FGF12 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: FGF12 was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | FDXR |
Zornitza Stark gene: FDXR was added gene: FDXR was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: FDXR was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | FBXO11 |
Zornitza Stark gene: FBXO11 was added gene: FBXO11 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: FBXO11 was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | FAR1 |
Zornitza Stark gene: FAR1 was added gene: FAR1 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: FAR1 was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | EXTL3 |
Zornitza Stark gene: EXTL3 was added gene: EXTL3 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: EXTL3 was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | ETHE1 |
Zornitza Stark gene: ETHE1 was added gene: ETHE1 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: ETHE1 was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | ETFDH |
Zornitza Stark gene: ETFDH was added gene: ETFDH was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: ETFDH was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | ETFB |
Zornitza Stark gene: ETFB was added gene: ETFB was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: ETFB was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | ETFA |
Zornitza Stark gene: ETFA was added gene: ETFA was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: ETFA was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | EP300 |
Zornitza Stark gene: EP300 was added gene: EP300 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: EP300 was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | EML1 |
Zornitza Stark gene: EML1 was added gene: EML1 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: EML1 was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | ELP2 |
Zornitza Stark gene: ELP2 was added gene: ELP2 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: ELP2 was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | EFNB2 |
Zornitza Stark gene: EFNB2 was added gene: EFNB2 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: EFNB2 was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | EED |
Zornitza Stark gene: EED was added gene: EED was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: EED was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | EDNRB |
Zornitza Stark gene: EDNRB was added gene: EDNRB was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: EDNRB was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | EBF3 |
Zornitza Stark gene: EBF3 was added gene: EBF3 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: EBF3 was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | DSCAM |
Zornitza Stark gene: DSCAM was added gene: DSCAM was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: DSCAM was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | DPM2 |
Zornitza Stark gene: DPM2 was added gene: DPM2 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: DPM2 was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | DPF2 |
Zornitza Stark gene: DPF2 was added gene: DPF2 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: DPF2 was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | DOLK |
Zornitza Stark gene: DOLK was added gene: DOLK was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: DOLK was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | DOCK8 |
Zornitza Stark gene: DOCK8 was added gene: DOCK8 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: DOCK8 was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | DOCK3 |
Zornitza Stark gene: DOCK3 was added gene: DOCK3 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: DOCK3 was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | DNM1 |
Zornitza Stark gene: DNM1 was added gene: DNM1 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: DNM1 was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | DNAJC3 |
Zornitza Stark gene: DNAJC3 was added gene: DNAJC3 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: DNAJC3 was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | DMD |
Zornitza Stark gene: DMD was added gene: DMD was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: DMD was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | DLG4 |
Zornitza Stark gene: DLG4 was added gene: DLG4 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: DLG4 was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | DIAPH1 |
Zornitza Stark gene: DIAPH1 was added gene: DIAPH1 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: DIAPH1 was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | DHX30 |
Zornitza Stark gene: DHX30 was added gene: DHX30 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: DHX30 was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | CWC27 |
Zornitza Stark gene: CWC27 was added gene: CWC27 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: CWC27 was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | CUX2 |
Zornitza Stark gene: CUX2 was added gene: CUX2 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: CUX2 was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | CSNK2B |
Zornitza Stark gene: CSNK2B was added gene: CSNK2B was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: CSNK2B was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | CSNK2A1 |
Zornitza Stark gene: CSNK2A1 was added gene: CSNK2A1 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: CSNK2A1 was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | CRB2 |
Zornitza Stark gene: CRB2 was added gene: CRB2 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: CRB2 was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | CP |
Zornitza Stark gene: CP was added gene: CP was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: CP was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | COQ8A |
Zornitza Stark gene: COQ8A was added gene: COQ8A was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: COQ8A was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | COQ5 |
Zornitza Stark gene: COQ5 was added gene: COQ5 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: COQ5 was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | COQ4 |
Zornitza Stark gene: COQ4 was added gene: COQ4 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: COQ4 was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | COLEC10 |
Zornitza Stark gene: COLEC10 was added gene: COLEC10 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: COLEC10 was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | COA3 |
Zornitza Stark gene: COA3 was added gene: COA3 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: COA3 was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | CNTNAP1 |
Zornitza Stark gene: CNTNAP1 was added gene: CNTNAP1 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: CNTNAP1 was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | CNTN3 |
Zornitza Stark gene: CNTN3 was added gene: CNTN3 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: CNTN3 was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | CNOT3 |
Zornitza Stark gene: CNOT3 was added gene: CNOT3 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: CNOT3 was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | CLTC |
Zornitza Stark gene: CLTC was added gene: CLTC was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: CLTC was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | CLPP |
Zornitza Stark gene: CLPP was added gene: CLPP was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: CLPP was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | CLPB |
Zornitza Stark gene: CLPB was added gene: CLPB was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: CLPB was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | CLP1 |
Zornitza Stark gene: CLP1 was added gene: CLP1 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: CLP1 was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | CKAP2L |
Zornitza Stark gene: CKAP2L was added gene: CKAP2L was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: CKAP2L was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | CIT |
Zornitza Stark gene: CIT was added gene: CIT was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: CIT was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | CISD2 |
Zornitza Stark gene: CISD2 was added gene: CISD2 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: CISD2 was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | CIC |
Zornitza Stark gene: CIC was added gene: CIC was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: CIC was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | CHD4 |
Zornitza Stark gene: CHD4 was added gene: CHD4 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: CHD4 was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | CEP83 |
Zornitza Stark gene: CEP83 was added gene: CEP83 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: CEP83 was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | CENPF |
Zornitza Stark gene: CENPF was added gene: CENPF was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: CENPF was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | CDT1 |
Zornitza Stark gene: CDT1 was added gene: CDT1 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: CDT1 was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | CDK5R1 |
Zornitza Stark gene: CDK5R1 was added gene: CDK5R1 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: CDK5R1 was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | CDK13 |
Zornitza Stark gene: CDK13 was added gene: CDK13 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: CDK13 was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | CDK10 |
Zornitza Stark gene: CDK10 was added gene: CDK10 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: CDK10 was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | CDH11 |
Zornitza Stark gene: CDH11 was added gene: CDH11 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: CDH11 was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | CCDC88A |
Zornitza Stark gene: CCDC88A was added gene: CCDC88A was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: CCDC88A was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | CCDC8 |
Zornitza Stark gene: CCDC8 was added gene: CCDC8 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: CCDC8 was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | CAMK2B |
Zornitza Stark gene: CAMK2B was added gene: CAMK2B was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: CAMK2B was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | CAMK2A |
Zornitza Stark gene: CAMK2A was added gene: CAMK2A was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: CAMK2A was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | C3orf58 |
Zornitza Stark gene: C3orf58 was added gene: C3orf58 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: C3orf58 was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | C2CD3 |
Zornitza Stark gene: C2CD3 was added gene: C2CD3 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: C2CD3 was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | C12orf4 |
Zornitza Stark gene: C12orf4 was added gene: C12orf4 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: C12orf4 was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | BRPF1 |
Zornitza Stark gene: BRPF1 was added gene: BRPF1 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: BRPF1 was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | BRF1 |
Zornitza Stark gene: BRF1 was added gene: BRF1 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: BRF1 was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | BRD4 |
Zornitza Stark gene: BRD4 was added gene: BRD4 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: BRD4 was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | BRAT1 |
Zornitza Stark gene: BRAT1 was added gene: BRAT1 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: BRAT1 was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | BPTF |
Zornitza Stark gene: BPTF was added gene: BPTF was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: BPTF was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | BCKDK |
Zornitza Stark gene: BCKDK was added gene: BCKDK was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: BCKDK was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | B4GALNT1 |
Zornitza Stark gene: B4GALNT1 was added gene: B4GALNT1 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: B4GALNT1 was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | B3GLCT |
Zornitza Stark gene: B3GLCT was added gene: B3GLCT was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: B3GLCT was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | ATP6V1B2 |
Zornitza Stark gene: ATP6V1B2 was added gene: ATP6V1B2 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: ATP6V1B2 was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | ATM |
Zornitza Stark gene: ATM was added gene: ATM was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: ATM was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | ATAD3A |
Zornitza Stark gene: ATAD3A was added gene: ATAD3A was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: ATAD3A was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | ASXL2 |
Zornitza Stark gene: ASXL2 was added gene: ASXL2 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: ASXL2 was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | ASMT |
Zornitza Stark gene: ASMT was added gene: ASMT was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: ASMT was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | ARV1 |
Zornitza Stark gene: ARV1 was added gene: ARV1 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: ARV1 was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | ARSB |
Zornitza Stark gene: ARSB was added gene: ARSB was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: ARSB was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | ARSA |
Zornitza Stark gene: ARSA was added gene: ARSA was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: ARSA was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | ARMC9 |
Zornitza Stark gene: ARMC9 was added gene: ARMC9 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: ARMC9 was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | ARL13B |
Zornitza Stark gene: ARL13B was added gene: ARL13B was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: ARL13B was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | ARID2 |
Zornitza Stark gene: ARID2 was added gene: ARID2 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: ARID2 was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | ARCN1 |
Zornitza Stark gene: ARCN1 was added gene: ARCN1 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: ARCN1 was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | APTX |
Zornitza Stark gene: APTX was added gene: APTX was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: APTX was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | APOPT1 |
Zornitza Stark gene: APOPT1 was added gene: APOPT1 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: APOPT1 was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | AP3B2 |
Zornitza Stark gene: AP3B2 was added gene: AP3B2 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: AP3B2 was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | ANKRD11 |
Zornitza Stark gene: ANKRD11 was added gene: ANKRD11 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: ANKRD11 was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | ANKH |
Zornitza Stark gene: ANKH was added gene: ANKH was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: ANKH was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | ALS2 |
Zornitza Stark gene: ALS2 was added gene: ALS2 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: ALS2 was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | ALMS1 |
Zornitza Stark gene: ALMS1 was added gene: ALMS1 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: ALMS1 was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | ALG9 |
Zornitza Stark gene: ALG9 was added gene: ALG9 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: ALG9 was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | ALG8 |
Zornitza Stark gene: ALG8 was added gene: ALG8 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: ALG8 was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | ALG14 |
Zornitza Stark gene: ALG14 was added gene: ALG14 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: ALG14 was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | AKAP6 |
Zornitza Stark gene: AKAP6 was added gene: AKAP6 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: AKAP6 was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | AHDC1 |
Zornitza Stark gene: AHDC1 was added gene: AHDC1 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: AHDC1 was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | AGPS |
Zornitza Stark gene: AGPS was added gene: AGPS was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: AGPS was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | AFG3L2 |
Zornitza Stark gene: AFG3L2 was added gene: AFG3L2 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: AFG3L2 was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | AFF4 |
Zornitza Stark gene: AFF4 was added gene: AFF4 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: AFF4 was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | AFF3 |
Zornitza Stark gene: AFF3 was added gene: AFF3 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: AFF3 was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | ADGRG1 |
Zornitza Stark gene: ADGRG1 was added gene: ADGRG1 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: ADGRG1 was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | ACTL6A |
Zornitza Stark gene: ACTL6A was added gene: ACTL6A was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: ACTL6A was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | ACAD9 |
Zornitza Stark gene: ACAD9 was added gene: ACAD9 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: ACAD9 was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | AARS |
Zornitza Stark gene: AARS was added gene: AARS was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: AARS was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | AAAS |
Zornitza Stark gene: AAAS was added gene: AAAS was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: AAAS was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | ZSWIM6 |
Zornitza Stark gene: ZSWIM6 was added gene: ZSWIM6 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: ZSWIM6 was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | ZNHIT6 |
Zornitza Stark gene: ZNHIT6 was added gene: ZNHIT6 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: ZNHIT6 was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | ZNF81 |
Zornitza Stark gene: ZNF81 was added gene: ZNF81 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: ZNF81 was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | ZNF804A |
Zornitza Stark gene: ZNF804A was added gene: ZNF804A was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: ZNF804A was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | ZNF711 |
Zornitza Stark gene: ZNF711 was added gene: ZNF711 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: ZNF711 was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | ZNF674 |
Zornitza Stark gene: ZNF674 was added gene: ZNF674 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: ZNF674 was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | ZNF507 |
Zornitza Stark gene: ZNF507 was added gene: ZNF507 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: ZNF507 was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | ZNF423 |
Zornitza Stark gene: ZNF423 was added gene: ZNF423 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: ZNF423 was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | ZNF41 |
Zornitza Stark gene: ZNF41 was added gene: ZNF41 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: ZNF41 was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | ZNF335 |
Zornitza Stark gene: ZNF335 was added gene: ZNF335 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: ZNF335 was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | ZMYND11 |
Zornitza Stark gene: ZMYND11 was added gene: ZMYND11 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: ZMYND11 was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | ZMYM3 |
Zornitza Stark gene: ZMYM3 was added gene: ZMYM3 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: ZMYM3 was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | ZIC2 |
Zornitza Stark gene: ZIC2 was added gene: ZIC2 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: ZIC2 was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | ZFYVE26 |
Zornitza Stark gene: ZFYVE26 was added gene: ZFYVE26 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: ZFYVE26 was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | ZFP57 |
Zornitza Stark gene: ZFP57 was added gene: ZFP57 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: ZFP57 was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | ZEB2 |
Zornitza Stark gene: ZEB2 was added gene: ZEB2 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: ZEB2 was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | ZDHHC9 |
Zornitza Stark gene: ZDHHC9 was added gene: ZDHHC9 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: ZDHHC9 was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | ZDHHC15 |
Zornitza Stark gene: ZDHHC15 was added gene: ZDHHC15 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: ZDHHC15 was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | ZCCHC12 |
Zornitza Stark gene: ZCCHC12 was added gene: ZCCHC12 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: ZCCHC12 was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | ZC4H2 |
Zornitza Stark gene: ZC4H2 was added gene: ZC4H2 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: ZC4H2 was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | ZC3H14 |
Zornitza Stark gene: ZC3H14 was added gene: ZC3H14 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: ZC3H14 was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | ZBTB24 |
Zornitza Stark gene: ZBTB24 was added gene: ZBTB24 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: ZBTB24 was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | ZBTB20 |
Zornitza Stark gene: ZBTB20 was added gene: ZBTB20 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: ZBTB20 was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | ZBTB18 |
Zornitza Stark gene: ZBTB18 was added gene: ZBTB18 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: ZBTB18 was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | ZBTB16 |
Zornitza Stark gene: ZBTB16 was added gene: ZBTB16 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: ZBTB16 was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | YAP1 |
Zornitza Stark gene: YAP1 was added gene: YAP1 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: YAP1 was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | XYLT1 |
Zornitza Stark gene: XYLT1 was added gene: XYLT1 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: XYLT1 was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | XPNPEP3 |
Zornitza Stark gene: XPNPEP3 was added gene: XPNPEP3 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: XPNPEP3 was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | XPA |
Zornitza Stark gene: XPA was added gene: XPA was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: XPA was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | WWOX |
Zornitza Stark gene: WWOX was added gene: WWOX was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: WWOX was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | WRAP53 |
Zornitza Stark gene: WRAP53 was added gene: WRAP53 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: WRAP53 was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | WNT5A |
Zornitza Stark gene: WNT5A was added gene: WNT5A was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: WNT5A was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | WNT1 |
Zornitza Stark gene: WNT1 was added gene: WNT1 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: WNT1 was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | WFS1 |
Zornitza Stark gene: WFS1 was added gene: WFS1 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: WFS1 was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | WDR81 |
Zornitza Stark gene: WDR81 was added gene: WDR81 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: WDR81 was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | WDR62 |
Zornitza Stark gene: WDR62 was added gene: WDR62 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: WDR62 was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | WDR45 |
Zornitza Stark gene: WDR45 was added gene: WDR45 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: WDR45 was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | WDR34 |
Zornitza Stark gene: WDR34 was added gene: WDR34 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: WDR34 was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | WDR26 |
Zornitza Stark gene: WDR26 was added gene: WDR26 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: WDR26 was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | WDR19 |
Zornitza Stark gene: WDR19 was added gene: WDR19 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: WDR19 was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | WDR13 |
Zornitza Stark gene: WDR13 was added gene: WDR13 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: WDR13 was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | WDR11 |
Zornitza Stark gene: WDR11 was added gene: WDR11 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: WDR11 was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | WDPCP |
Zornitza Stark gene: WDPCP was added gene: WDPCP was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: WDPCP was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | VRK1 |
Zornitza Stark gene: VRK1 was added gene: VRK1 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: VRK1 was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | VPS53 |
Zornitza Stark gene: VPS53 was added gene: VPS53 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: VPS53 was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | VPS45 |
Zornitza Stark gene: VPS45 was added gene: VPS45 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: VPS45 was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | VPS37A |
Zornitza Stark gene: VPS37A was added gene: VPS37A was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: VPS37A was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | VPS33B |
Zornitza Stark gene: VPS33B was added gene: VPS33B was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: VPS33B was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | VPS13B |
Zornitza Stark gene: VPS13B was added gene: VPS13B was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: VPS13B was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | VLDLR |
Zornitza Stark gene: VLDLR was added gene: VLDLR was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: VLDLR was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | VIPAS39 |
Zornitza Stark gene: VIPAS39 was added gene: VIPAS39 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: VIPAS39 was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | VANGL1 |
Zornitza Stark gene: VANGL1 was added gene: VANGL1 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: VANGL1 was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | USP9X |
Zornitza Stark gene: USP9X was added gene: USP9X was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: USP9X was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | UROC1 |
Zornitza Stark gene: UROC1 was added gene: UROC1 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: UROC1 was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | UQCRQ |
Zornitza Stark gene: UQCRQ was added gene: UQCRQ was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: UQCRQ was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | UQCRC2 |
Zornitza Stark gene: UQCRC2 was added gene: UQCRC2 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: UQCRC2 was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | UQCRB |
Zornitza Stark gene: UQCRB was added gene: UQCRB was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: UQCRB was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | UQCC2 |
Zornitza Stark gene: UQCC2 was added gene: UQCC2 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: UQCC2 was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | UPF3B |
Zornitza Stark gene: UPF3B was added gene: UPF3B was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: UPF3B was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | UPB1 |
Zornitza Stark gene: UPB1 was added gene: UPB1 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: UPB1 was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | UNC80 |
Zornitza Stark gene: UNC80 was added gene: UNC80 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: UNC80 was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | UNC13D |
Zornitza Stark gene: UNC13D was added gene: UNC13D was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: UNC13D was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | UMPS |
Zornitza Stark gene: UMPS was added gene: UMPS was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: UMPS was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | UGT1A1 |
Zornitza Stark gene: UGT1A1 was added gene: UGT1A1 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: UGT1A1 was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | UCHL1 |
Zornitza Stark gene: UCHL1 was added gene: UCHL1 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: UCHL1 was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | UBR1 |
Zornitza Stark gene: UBR1 was added gene: UBR1 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: UBR1 was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | UBE3B |
Zornitza Stark gene: UBE3B was added gene: UBE3B was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: UBE3B was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | UBE3A |
Zornitza Stark gene: UBE3A was added gene: UBE3A was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: UBE3A was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | UBE2A |
Zornitza Stark gene: UBE2A was added gene: UBE2A was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: UBE2A was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | TWIST1 |
Zornitza Stark gene: TWIST1 was added gene: TWIST1 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: TWIST1 was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | TUSC3 |
Zornitza Stark gene: TUSC3 was added gene: TUSC3 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: TUSC3 was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | TUFM |
Zornitza Stark gene: TUFM was added gene: TUFM was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: TUFM was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | TUBGCP6 |
Zornitza Stark gene: TUBGCP6 was added gene: TUBGCP6 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: TUBGCP6 was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | TUBB4A |
Zornitza Stark gene: TUBB4A was added gene: TUBB4A was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: TUBB4A was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | TUBB3 |
Zornitza Stark gene: TUBB3 was added gene: TUBB3 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: TUBB3 was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | TUBB2B |
Zornitza Stark gene: TUBB2B was added gene: TUBB2B was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: TUBB2B was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | TUBA8 |
Zornitza Stark gene: TUBA8 was added gene: TUBA8 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: TUBA8 was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | TUBA1A |
Zornitza Stark gene: TUBA1A was added gene: TUBA1A was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: TUBA1A was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | TTR |
Zornitza Stark gene: TTR was added gene: TTR was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: TTR was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | TTI2 |
Zornitza Stark gene: TTI2 was added gene: TTI2 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: TTI2 was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | TTC8 |
Zornitza Stark gene: TTC8 was added gene: TTC8 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: TTC8 was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | TTC37 |
Zornitza Stark gene: TTC37 was added gene: TTC37 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: TTC37 was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | TTC21B |
Zornitza Stark gene: TTC21B was added gene: TTC21B was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: TTC21B was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | TTC19 |
Zornitza Stark gene: TTC19 was added gene: TTC19 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: TTC19 was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | TSPAN7 |
Zornitza Stark gene: TSPAN7 was added gene: TSPAN7 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: TSPAN7 was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | TSHR |
Zornitza Stark gene: TSHR was added gene: TSHR was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: TSHR was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | TSHB |
Zornitza Stark gene: TSHB was added gene: TSHB was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: TSHB was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | TSFM |
Zornitza Stark gene: TSFM was added gene: TSFM was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: TSFM was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | TSEN54 |
Zornitza Stark gene: TSEN54 was added gene: TSEN54 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: TSEN54 was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | TSEN34 |
Zornitza Stark gene: TSEN34 was added gene: TSEN34 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: TSEN34 was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | TSEN2 |
Zornitza Stark gene: TSEN2 was added gene: TSEN2 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: TSEN2 was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | TSC2 |
Zornitza Stark gene: TSC2 was added gene: TSC2 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: TSC2 was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | TSC1 |
Zornitza Stark gene: TSC1 was added gene: TSC1 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: TSC1 was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | TRNT1 |
Zornitza Stark gene: TRNT1 was added gene: TRNT1 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: TRNT1 was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | TRMT10A |
Zornitza Stark gene: TRMT10A was added gene: TRMT10A was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: TRMT10A was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | TRIP12 |
Zornitza Stark gene: TRIP12 was added gene: TRIP12 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: TRIP12 was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | TRIO |
Zornitza Stark gene: TRIO was added gene: TRIO was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: TRIO was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | TRIM32 |
Zornitza Stark gene: TRIM32 was added gene: TRIM32 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: TRIM32 was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | TRHR |
Zornitza Stark gene: TRHR was added gene: TRHR was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: TRHR was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | TREX1 |
Zornitza Stark gene: TREX1 was added gene: TREX1 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: TREX1 was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | TREM2 |
Zornitza Stark gene: TREM2 was added gene: TREM2 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: TREM2 was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | TRAPPC9 |
Zornitza Stark gene: TRAPPC9 was added gene: TRAPPC9 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: TRAPPC9 was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | TRAPPC11 |
Zornitza Stark gene: TRAPPC11 was added gene: TRAPPC11 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: TRAPPC11 was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | TPP1 |
Zornitza Stark gene: TPP1 was added gene: TPP1 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: TPP1 was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | TPK1 |
Zornitza Stark gene: TPK1 was added gene: TPK1 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: TPK1 was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | TPH2 |
Zornitza Stark gene: TPH2 was added gene: TPH2 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: TPH2 was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | TP63 |
Zornitza Stark gene: TP63 was added gene: TP63 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: TP63 was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | TNIK |
Zornitza Stark gene: TNIK was added gene: TNIK was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: TNIK was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | TMEM70 |
Zornitza Stark gene: TMEM70 was added gene: TMEM70 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: TMEM70 was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | TMEM67 |
Zornitza Stark gene: TMEM67 was added gene: TMEM67 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: TMEM67 was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | TMEM5 |
Zornitza Stark gene: TMEM5 was added gene: TMEM5 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: TMEM5 was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | TMEM240 |
Zornitza Stark gene: TMEM240 was added gene: TMEM240 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: TMEM240 was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | TMEM237 |
Zornitza Stark gene: TMEM237 was added gene: TMEM237 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: TMEM237 was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | TMEM231 |
Zornitza Stark gene: TMEM231 was added gene: TMEM231 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: TMEM231 was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | TMEM216 |
Zornitza Stark gene: TMEM216 was added gene: TMEM216 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: TMEM216 was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | TMEM165 |
Zornitza Stark gene: TMEM165 was added gene: TMEM165 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: TMEM165 was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | TMCO1 |
Zornitza Stark gene: TMCO1 was added gene: TMCO1 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: TMCO1 was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | TKT |
Zornitza Stark gene: TKT was added gene: TKT was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: TKT was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | TINF2 |
Zornitza Stark gene: TINF2 was added gene: TINF2 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: TINF2 was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | TIMM8A |
Zornitza Stark gene: TIMM8A was added gene: TIMM8A was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: TIMM8A was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | THRB |
Zornitza Stark gene: THRB was added gene: THRB was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: THRB was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | THOC6 |
Zornitza Stark gene: THOC6 was added gene: THOC6 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: THOC6 was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | THOC2 |
Zornitza Stark gene: THOC2 was added gene: THOC2 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: THOC2 was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | TH |
Zornitza Stark gene: TH was added gene: TH was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: TH was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | TGIF1 |
Zornitza Stark gene: TGIF1 was added gene: TGIF1 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: TGIF1 was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | TGFBR2 |
Zornitza Stark gene: TGFBR2 was added gene: TGFBR2 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: TGFBR2 was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | TGFBR1 |
Zornitza Stark gene: TGFBR1 was added gene: TGFBR1 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: TGFBR1 was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | TG |
Zornitza Stark gene: TG was added gene: TG was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: TG was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | TFG |
Zornitza Stark gene: TFG was added gene: TFG was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: TFG was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | TFAP2B |
Zornitza Stark gene: TFAP2B was added gene: TFAP2B was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: TFAP2B was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | TFAP2A |
Zornitza Stark gene: TFAP2A was added gene: TFAP2A was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: TFAP2A was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | TERT |
Zornitza Stark gene: TERT was added gene: TERT was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: TERT was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | TECR |
Zornitza Stark gene: TECR was added gene: TECR was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: TECR was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | TECPR2 |
Zornitza Stark gene: TECPR2 was added gene: TECPR2 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: TECPR2 was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | TDP2 |
Zornitza Stark gene: TDP2 was added gene: TDP2 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: TDP2 was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | TDGF1 |
Zornitza Stark gene: TDGF1 was added gene: TDGF1 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: TDGF1 was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | TCTN3 |
Zornitza Stark gene: TCTN3 was added gene: TCTN3 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: TCTN3 was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | TCTN2 |
Zornitza Stark gene: TCTN2 was added gene: TCTN2 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: TCTN2 was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | TCN2 |
Zornitza Stark gene: TCN2 was added gene: TCN2 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: TCN2 was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | TCF4 |
Zornitza Stark gene: TCF4 was added gene: TCF4 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: TCF4 was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | TBX1 |
Zornitza Stark gene: TBX1 was added gene: TBX1 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: TBX1 was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | TBL1XR1 |
Zornitza Stark gene: TBL1XR1 was added gene: TBL1XR1 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: TBL1XR1 was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | TBCE |
Zornitza Stark gene: TBCE was added gene: TBCE was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: TBCE was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | TBC1D7 |
Zornitza Stark gene: TBC1D7 was added gene: TBC1D7 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: TBC1D7 was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | TBC1D24 |
Zornitza Stark gene: TBC1D24 was added gene: TBC1D24 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: TBC1D24 was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | TBC1D20 |
Zornitza Stark gene: TBC1D20 was added gene: TBC1D20 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: TBC1D20 was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | TAT |
Zornitza Stark gene: TAT was added gene: TAT was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: TAT was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | TAF2 |
Zornitza Stark gene: TAF2 was added gene: TAF2 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: TAF2 was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | TAF1 |
Zornitza Stark gene: TAF1 was added gene: TAF1 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: TAF1 was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | TACO1 |
Zornitza Stark gene: TACO1 was added gene: TACO1 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: TACO1 was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | SZT2 |
Zornitza Stark gene: SZT2 was added gene: SZT2 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: SZT2 was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | SYT14 |
Zornitza Stark gene: SYT14 was added gene: SYT14 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: SYT14 was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | SYP |
Zornitza Stark gene: SYP was added gene: SYP was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: SYP was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | SYNJ1 |
Zornitza Stark gene: SYNJ1 was added gene: SYNJ1 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: SYNJ1 was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | SYNGAP1 |
Zornitza Stark gene: SYNGAP1 was added gene: SYNGAP1 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: SYNGAP1 was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | SYN1 |
Zornitza Stark gene: SYN1 was added gene: SYN1 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: SYN1 was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | SUOX |
Zornitza Stark gene: SUOX was added gene: SUOX was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: SUOX was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | SUMF1 |
Zornitza Stark gene: SUMF1 was added gene: SUMF1 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: SUMF1 was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | SUCLG1 |
Zornitza Stark gene: SUCLG1 was added gene: SUCLG1 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: SUCLG1 was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | SUCLA2 |
Zornitza Stark gene: SUCLA2 was added gene: SUCLA2 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: SUCLA2 was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | STXBP1 |
Zornitza Stark gene: STXBP1 was added gene: STXBP1 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: STXBP1 was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | STX11 |
Zornitza Stark gene: STX11 was added gene: STX11 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: STX11 was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | STT3B |
Zornitza Stark gene: STT3B was added gene: STT3B was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: STT3B was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | STT3A |
Zornitza Stark gene: STT3A was added gene: STT3A was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: STT3A was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | STRA6 |
Zornitza Stark gene: STRA6 was added gene: STRA6 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: STRA6 was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | STK3 |
Zornitza Stark gene: STK3 was added gene: STK3 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: STK3 was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | STIL |
Zornitza Stark gene: STIL was added gene: STIL was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: STIL was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | STAT5B |
Zornitza Stark gene: STAT5B was added gene: STAT5B was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: STAT5B was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | STAMBP |
Zornitza Stark gene: STAMBP was added gene: STAMBP was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: STAMBP was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | STAC3 |
Zornitza Stark gene: STAC3 was added gene: STAC3 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: STAC3 was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | ST7 |
Zornitza Stark gene: ST7 was added gene: ST7 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: ST7 was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | ST3GAL5 |
Zornitza Stark gene: ST3GAL5 was added gene: ST3GAL5 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: ST3GAL5 was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | ST3GAL3 |
Zornitza Stark gene: ST3GAL3 was added gene: ST3GAL3 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: ST3GAL3 was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | SSR4 |
Zornitza Stark gene: SSR4 was added gene: SSR4 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: SSR4 was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | SRPX2 |
Zornitza Stark gene: SRPX2 was added gene: SRPX2 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: SRPX2 was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | SRD5A3 |
Zornitza Stark gene: SRD5A3 was added gene: SRD5A3 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: SRD5A3 was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | SRCAP |
Zornitza Stark gene: SRCAP was added gene: SRCAP was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: SRCAP was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | SPTLC1 |
Zornitza Stark gene: SPTLC1 was added gene: SPTLC1 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: SPTLC1 was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | SPTBN2 |
Zornitza Stark gene: SPTBN2 was added gene: SPTBN2 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: SPTBN2 was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | SPTAN1 |
Zornitza Stark gene: SPTAN1 was added gene: SPTAN1 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: SPTAN1 was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | SPRED1 |
Zornitza Stark gene: SPRED1 was added gene: SPRED1 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: SPRED1 was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | SPR |
Zornitza Stark gene: SPR was added gene: SPR was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: SPR was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | SPINK5 |
Zornitza Stark gene: SPINK5 was added gene: SPINK5 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: SPINK5 was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | SPG7 |
Zornitza Stark gene: SPG7 was added gene: SPG7 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: SPG7 was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | SPEG |
Zornitza Stark gene: SPEG was added gene: SPEG was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: SPEG was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | SPATA5 |
Zornitza Stark gene: SPATA5 was added gene: SPATA5 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: SPATA5 was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | SPAST |
Zornitza Stark gene: SPAST was added gene: SPAST was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: SPAST was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | SP7 |
Zornitza Stark gene: SP7 was added gene: SP7 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: SP7 was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | SOX5 |
Zornitza Stark gene: SOX5 was added gene: SOX5 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: SOX5 was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | SOX3 |
Zornitza Stark gene: SOX3 was added gene: SOX3 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: SOX3 was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | SOX2 |
Zornitza Stark gene: SOX2 was added gene: SOX2 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: SOX2 was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | SOX11 |
Zornitza Stark gene: SOX11 was added gene: SOX11 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: SOX11 was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | SOX10 |
Zornitza Stark gene: SOX10 was added gene: SOX10 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: SOX10 was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | SOST |
Zornitza Stark gene: SOST was added gene: SOST was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: SOST was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | SOS1 |
Zornitza Stark gene: SOS1 was added gene: SOS1 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: SOS1 was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | SOBP |
Zornitza Stark gene: SOBP was added gene: SOBP was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: SOBP was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | SNRPN |
Zornitza Stark gene: SNRPN was added gene: SNRPN was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: SNRPN was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | SNRPB |
Zornitza Stark gene: SNRPB was added gene: SNRPB was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: SNRPB was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | SNIP1 |
Zornitza Stark gene: SNIP1 was added gene: SNIP1 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: SNIP1 was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | SNAP29 |
Zornitza Stark gene: SNAP29 was added gene: SNAP29 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: SNAP29 was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | SMS |
Zornitza Stark gene: SMS was added gene: SMS was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: SMS was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | SMPD1 |
Zornitza Stark gene: SMPD1 was added gene: SMPD1 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: SMPD1 was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | SMOC1 |
Zornitza Stark gene: SMOC1 was added gene: SMOC1 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: SMOC1 was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | SMG6 |
Zornitza Stark gene: SMG6 was added gene: SMG6 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: SMG6 was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | SMCHD1 |
Zornitza Stark gene: SMCHD1 was added gene: SMCHD1 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: SMCHD1 was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | SMC3 |
Zornitza Stark gene: SMC3 was added gene: SMC3 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: SMC3 was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | SMC1A |
Zornitza Stark gene: SMC1A was added gene: SMC1A was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: SMC1A was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | SMARCE1 |
Zornitza Stark gene: SMARCE1 was added gene: SMARCE1 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: SMARCE1 was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | SMARCB1 |
Zornitza Stark gene: SMARCB1 was added gene: SMARCB1 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: SMARCB1 was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | SMARCA4 |
Zornitza Stark gene: SMARCA4 was added gene: SMARCA4 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: SMARCA4 was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | SMARCA2 |
Zornitza Stark gene: SMARCA2 was added gene: SMARCA2 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: SMARCA2 was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | SMAD4 |
Zornitza Stark gene: SMAD4 was added gene: SMAD4 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: SMAD4 was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | SLX4 |
Zornitza Stark gene: SLX4 was added gene: SLX4 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: SLX4 was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | SLC9A9 |
Zornitza Stark gene: SLC9A9 was added gene: SLC9A9 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: SLC9A9 was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | SLC9A6 |
Zornitza Stark gene: SLC9A6 was added gene: SLC9A6 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: SLC9A6 was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | SLC7A7 |
Zornitza Stark gene: SLC7A7 was added gene: SLC7A7 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: SLC7A7 was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | SLC6A8 |
Zornitza Stark gene: SLC6A8 was added gene: SLC6A8 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: SLC6A8 was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | SLC6A4 |
Zornitza Stark gene: SLC6A4 was added gene: SLC6A4 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: SLC6A4 was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | SLC6A3 |
Zornitza Stark gene: SLC6A3 was added gene: SLC6A3 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: SLC6A3 was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | SLC6A19 |
Zornitza Stark gene: SLC6A19 was added gene: SLC6A19 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: SLC6A19 was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | SLC6A17 |
Zornitza Stark gene: SLC6A17 was added gene: SLC6A17 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: SLC6A17 was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | SLC5A5 |
Zornitza Stark gene: SLC5A5 was added gene: SLC5A5 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: SLC5A5 was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | SLC5A2 |
Zornitza Stark gene: SLC5A2 was added gene: SLC5A2 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: SLC5A2 was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | SLC4A4 |
Zornitza Stark gene: SLC4A4 was added gene: SLC4A4 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: SLC4A4 was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | SLC39A4 |
Zornitza Stark gene: SLC39A4 was added gene: SLC39A4 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: SLC39A4 was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | SLC35C1 |
Zornitza Stark gene: SLC35C1 was added gene: SLC35C1 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: SLC35C1 was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | SLC35A3 |
Zornitza Stark gene: SLC35A3 was added gene: SLC35A3 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: SLC35A3 was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | SLC35A2 |
Zornitza Stark gene: SLC35A2 was added gene: SLC35A2 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: SLC35A2 was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | SLC35A1 |
Zornitza Stark gene: SLC35A1 was added gene: SLC35A1 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: SLC35A1 was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | SLC33A1 |
Zornitza Stark gene: SLC33A1 was added gene: SLC33A1 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: SLC33A1 was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | SLC2A2 |
Zornitza Stark gene: SLC2A2 was added gene: SLC2A2 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: SLC2A2 was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | SLC2A10 |
Zornitza Stark gene: SLC2A10 was added gene: SLC2A10 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: SLC2A10 was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | SLC2A1 |
Zornitza Stark gene: SLC2A1 was added gene: SLC2A1 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: SLC2A1 was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | SLC29A3 |
Zornitza Stark gene: SLC29A3 was added gene: SLC29A3 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: SLC29A3 was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | SLC25A4 |
Zornitza Stark gene: SLC25A4 was added gene: SLC25A4 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: SLC25A4 was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | SLC25A22 |
Zornitza Stark gene: SLC25A22 was added gene: SLC25A22 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: SLC25A22 was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | SLC25A19 |
Zornitza Stark gene: SLC25A19 was added gene: SLC25A19 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: SLC25A19 was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | SLC25A15 |
Zornitza Stark gene: SLC25A15 was added gene: SLC25A15 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: SLC25A15 was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | SLC25A13 |
Zornitza Stark gene: SLC25A13 was added gene: SLC25A13 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: SLC25A13 was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | SLC25A12 |
Zornitza Stark gene: SLC25A12 was added gene: SLC25A12 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: SLC25A12 was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | SLC25A1 |
Zornitza Stark gene: SLC25A1 was added gene: SLC25A1 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: SLC25A1 was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | SLC22A5 |
Zornitza Stark gene: SLC22A5 was added gene: SLC22A5 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: SLC22A5 was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | SLC20A2 |
Zornitza Stark gene: SLC20A2 was added gene: SLC20A2 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: SLC20A2 was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | SLC1A3 |
Zornitza Stark gene: SLC1A3 was added gene: SLC1A3 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: SLC1A3 was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | SLC1A1 |
Zornitza Stark gene: SLC1A1 was added gene: SLC1A1 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: SLC1A1 was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | SLC19A3 |
Zornitza Stark gene: SLC19A3 was added gene: SLC19A3 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: SLC19A3 was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | SLC19A2 |
Zornitza Stark gene: SLC19A2 was added gene: SLC19A2 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: SLC19A2 was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | SLC17A5 |
Zornitza Stark gene: SLC17A5 was added gene: SLC17A5 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: SLC17A5 was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | SLC16A2 |
Zornitza Stark gene: SLC16A2 was added gene: SLC16A2 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: SLC16A2 was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | SLC13A5 |
Zornitza Stark gene: SLC13A5 was added gene: SLC13A5 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: SLC13A5 was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | SLC12A6 |
Zornitza Stark gene: SLC12A6 was added gene: SLC12A6 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: SLC12A6 was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | SLC12A1 |
Zornitza Stark gene: SLC12A1 was added gene: SLC12A1 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: SLC12A1 was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | SKI |
Zornitza Stark gene: SKI was added gene: SKI was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: SKI was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | SIX3 |
Zornitza Stark gene: SIX3 was added gene: SIX3 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: SIX3 was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | SIL1 |
Zornitza Stark gene: SIL1 was added gene: SIL1 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: SIL1 was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | SHROOM4 |
Zornitza Stark gene: SHROOM4 was added gene: SHROOM4 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: SHROOM4 was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | SHOC2 |
Zornitza Stark gene: SHOC2 was added gene: SHOC2 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: SHOC2 was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | SHH |
Zornitza Stark gene: SHH was added gene: SHH was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: SHH was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | SHANK3 |
Zornitza Stark gene: SHANK3 was added gene: SHANK3 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: SHANK3 was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | SHANK2 |
Zornitza Stark gene: SHANK2 was added gene: SHANK2 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: SHANK2 was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | SH3TC2 |
Zornitza Stark gene: SH3TC2 was added gene: SH3TC2 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: SH3TC2 was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | SGSH |
Zornitza Stark gene: SGSH was added gene: SGSH was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: SGSH was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | SGCA |
Zornitza Stark gene: SGCA was added gene: SGCA was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: SGCA was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | SFXN4 |
Zornitza Stark gene: SFXN4 was added gene: SFXN4 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: SFXN4 was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | SF3B4 |
Zornitza Stark gene: SF3B4 was added gene: SF3B4 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: SF3B4 was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | SETD5 |
Zornitza Stark gene: SETD5 was added gene: SETD5 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: SETD5 was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | SETD2 |
Zornitza Stark gene: SETD2 was added gene: SETD2 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: SETD2 was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | SETBP1 |
Zornitza Stark gene: SETBP1 was added gene: SETBP1 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: SETBP1 was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | SERAC1 |
Zornitza Stark gene: SERAC1 was added gene: SERAC1 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: SERAC1 was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | SEPSECS |
Zornitza Stark gene: SEPSECS was added gene: SEPSECS was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: SEPSECS was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | SELENON |
Zornitza Stark gene: SELENON was added gene: SELENON was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: SELENON was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | SEMA3E |
Zornitza Stark gene: SEMA3E was added gene: SEMA3E was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: SEMA3E was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | SDHD |
Zornitza Stark gene: SDHD was added gene: SDHD was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: SDHD was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | SDHAF1 |
Zornitza Stark gene: SDHAF1 was added gene: SDHAF1 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: SDHAF1 was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | SDHA |
Zornitza Stark gene: SDHA was added gene: SDHA was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: SDHA was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | SDCCAG8 |
Zornitza Stark gene: SDCCAG8 was added gene: SDCCAG8 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: SDCCAG8 was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | SCO2 |
Zornitza Stark gene: SCO2 was added gene: SCO2 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: SCO2 was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | SCO1 |
Zornitza Stark gene: SCO1 was added gene: SCO1 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: SCO1 was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | SCN9A |
Zornitza Stark gene: SCN9A was added gene: SCN9A was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: SCN9A was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | SCN8A |
Zornitza Stark gene: SCN8A was added gene: SCN8A was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: SCN8A was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | SCN2A |
Zornitza Stark gene: SCN2A was added gene: SCN2A was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: SCN2A was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | SCN1B |
Zornitza Stark gene: SCN1B was added gene: SCN1B was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: SCN1B was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | SCN1A |
Zornitza Stark gene: SCN1A was added gene: SCN1A was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: SCN1A was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | SCN11A |
Zornitza Stark gene: SCN11A was added gene: SCN11A was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: SCN11A was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | SC5D |
Zornitza Stark gene: SC5D was added gene: SC5D was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: SC5D was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | SBF1 |
Zornitza Stark gene: SBF1 was added gene: SBF1 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: SBF1 was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | SBDS |
Zornitza Stark gene: SBDS was added gene: SBDS was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: SBDS was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | SATB2 |
Zornitza Stark gene: SATB2 was added gene: SATB2 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: SATB2 was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | SARS2 |
Zornitza Stark gene: SARS2 was added gene: SARS2 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: SARS2 was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | SAMHD1 |
Zornitza Stark gene: SAMHD1 was added gene: SAMHD1 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: SAMHD1 was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | SALL1 |
Zornitza Stark gene: SALL1 was added gene: SALL1 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: SALL1 was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | SACS |
Zornitza Stark gene: SACS was added gene: SACS was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: SACS was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | RTTN |
Zornitza Stark gene: RTTN was added gene: RTTN was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: RTTN was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | RTN4IP1 |
Zornitza Stark gene: RTN4IP1 was added gene: RTN4IP1 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: RTN4IP1 was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | RRM2B |
Zornitza Stark gene: RRM2B was added gene: RRM2B was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: RRM2B was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | RPS6KA3 |
Zornitza Stark gene: RPS6KA3 was added gene: RPS6KA3 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: RPS6KA3 was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | RPS28 |
Zornitza Stark gene: RPS28 was added gene: RPS28 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: RPS28 was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | RPS19 |
Zornitza Stark gene: RPS19 was added gene: RPS19 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: RPS19 was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | RPL11 |
Zornitza Stark gene: RPL11 was added gene: RPL11 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: RPL11 was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | RPL10 |
Zornitza Stark gene: RPL10 was added gene: RPL10 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: RPL10 was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | RPGRIP1L |
Zornitza Stark gene: RPGRIP1L was added gene: RPGRIP1L was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: RPGRIP1L was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | ROR2 |
Zornitza Stark gene: ROR2 was added gene: ROR2 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: ROR2 was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | ROGDI |
Zornitza Stark gene: ROGDI was added gene: ROGDI was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: ROGDI was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | RNU4ATAC |
Zornitza Stark gene: RNU4ATAC was added gene: RNU4ATAC was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: RNU4ATAC was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | RNASET2 |
Zornitza Stark gene: RNASET2 was added gene: RNASET2 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: RNASET2 was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | RNASEH2C |
Zornitza Stark gene: RNASEH2C was added gene: RNASEH2C was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: RNASEH2C was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | RNASEH2B |
Zornitza Stark gene: RNASEH2B was added gene: RNASEH2B was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: RNASEH2B was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | RNASEH2A |
Zornitza Stark gene: RNASEH2A was added gene: RNASEH2A was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: RNASEH2A was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | RMRP |
Zornitza Stark gene: RMRP was added gene: RMRP was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: RMRP was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | RMND1 |
Zornitza Stark gene: RMND1 was added gene: RMND1 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: RMND1 was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | RLIM |
Zornitza Stark gene: RLIM was added gene: RLIM was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: RLIM was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | RIT1 |
Zornitza Stark gene: RIT1 was added gene: RIT1 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: RIT1 was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | RIN2 |
Zornitza Stark gene: RIN2 was added gene: RIN2 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: RIN2 was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | RFX6 |
Zornitza Stark gene: RFX6 was added gene: RFX6 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: RFX6 was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | RFT1 |
Zornitza Stark gene: RFT1 was added gene: RFT1 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: RFT1 was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | RET |
Zornitza Stark gene: RET was added gene: RET was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: RET was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | RELN |
Zornitza Stark gene: RELN was added gene: RELN was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: RELN was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | RECQL4 |
Zornitza Stark gene: RECQL4 was added gene: RECQL4 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: RECQL4 was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | RBPJ |
Zornitza Stark gene: RBPJ was added gene: RBPJ was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: RBPJ was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | RBM8A |
Zornitza Stark gene: RBM8A was added gene: RBM8A was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: RBM8A was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | RBM28 |
Zornitza Stark gene: RBM28 was added gene: RBM28 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: RBM28 was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | RBM10 |
Zornitza Stark gene: RBM10 was added gene: RBM10 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: RBM10 was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | RBFOX1 |
Zornitza Stark gene: RBFOX1 was added gene: RBFOX1 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: RBFOX1 was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | RBBP8 |
Zornitza Stark gene: RBBP8 was added gene: RBBP8 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: RBBP8 was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | RARS2 |
Zornitza Stark gene: RARS2 was added gene: RARS2 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: RARS2 was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | RARB |
Zornitza Stark gene: RARB was added gene: RARB was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: RARB was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | RAPSN |
Zornitza Stark gene: RAPSN was added gene: RAPSN was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: RAPSN was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | RANBP2 |
Zornitza Stark gene: RANBP2 was added gene: RANBP2 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: RANBP2 was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | RAI1 |
Zornitza Stark gene: RAI1 was added gene: RAI1 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: RAI1 was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | RAF1 |
Zornitza Stark gene: RAF1 was added gene: RAF1 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: RAF1 was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | RAD21 |
Zornitza Stark gene: RAD21 was added gene: RAD21 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: RAD21 was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | RAB40AL |
Zornitza Stark gene: RAB40AL was added gene: RAB40AL was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: RAB40AL was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | RAB3GAP2 |
Zornitza Stark gene: RAB3GAP2 was added gene: RAB3GAP2 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: RAB3GAP2 was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | RAB3GAP1 |
Zornitza Stark gene: RAB3GAP1 was added gene: RAB3GAP1 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: RAB3GAP1 was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | RAB39B |
Zornitza Stark gene: RAB39B was added gene: RAB39B was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: RAB39B was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | RAB27A |
Zornitza Stark gene: RAB27A was added gene: RAB27A was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: RAB27A was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | RAB23 |
Zornitza Stark gene: RAB23 was added gene: RAB23 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: RAB23 was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | RAB18 |
Zornitza Stark gene: RAB18 was added gene: RAB18 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: RAB18 was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | QDPR |
Zornitza Stark gene: QDPR was added gene: QDPR was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: QDPR was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | QARS |
Zornitza Stark gene: QARS was added gene: QARS was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: QARS was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | PYGL |
Zornitza Stark gene: PYGL was added gene: PYGL was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: PYGL was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | PYCR1 |
Zornitza Stark gene: PYCR1 was added gene: PYCR1 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: PYCR1 was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | PUS1 |
Zornitza Stark gene: PUS1 was added gene: PUS1 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: PUS1 was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | PURA |
Zornitza Stark gene: PURA was added gene: PURA was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: PURA was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | PTS |
Zornitza Stark gene: PTS was added gene: PTS was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: PTS was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | PTPN11 |
Zornitza Stark gene: PTPN11 was added gene: PTPN11 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: PTPN11 was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | PTEN |
Zornitza Stark gene: PTEN was added gene: PTEN was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: PTEN was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | PTDSS1 |
Zornitza Stark gene: PTDSS1 was added gene: PTDSS1 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: PTDSS1 was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | PTCHD1 |
Zornitza Stark gene: PTCHD1 was added gene: PTCHD1 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: PTCHD1 was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | PTCH1 |
Zornitza Stark gene: PTCH1 was added gene: PTCH1 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: PTCH1 was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | PSPH |
Zornitza Stark gene: PSPH was added gene: PSPH was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: PSPH was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | PSAT1 |
Zornitza Stark gene: PSAT1 was added gene: PSAT1 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: PSAT1 was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | PSAP |
Zornitza Stark gene: PSAP was added gene: PSAP was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: PSAP was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | PRX |
Zornitza Stark gene: PRX was added gene: PRX was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: PRX was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | PRSS12 |
Zornitza Stark gene: PRSS12 was added gene: PRSS12 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: PRSS12 was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | PRRX1 |
Zornitza Stark gene: PRRX1 was added gene: PRRX1 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: PRRX1 was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | PRPS1 |
Zornitza Stark gene: PRPS1 was added gene: PRPS1 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: PRPS1 was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | PRODH |
Zornitza Stark gene: PRODH was added gene: PRODH was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: PRODH was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | PRKRA |
Zornitza Stark gene: PRKRA was added gene: PRKRA was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: PRKRA was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | PRKDC |
Zornitza Stark gene: PRKDC was added gene: PRKDC was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: PRKDC was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | PRKAR1A |
Zornitza Stark gene: PRKAR1A was added gene: PRKAR1A was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: PRKAR1A was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | PRICKLE1 |
Zornitza Stark gene: PRICKLE1 was added gene: PRICKLE1 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: PRICKLE1 was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | PRF1 |
Zornitza Stark gene: PRF1 was added gene: PRF1 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: PRF1 was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | PREPL |
Zornitza Stark gene: PREPL was added gene: PREPL was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: PREPL was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | PRDM8 |
Zornitza Stark gene: PRDM8 was added gene: PRDM8 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: PRDM8 was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | PQBP1 |
Zornitza Stark gene: PQBP1 was added gene: PQBP1 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: PQBP1 was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | PPT1 |
Zornitza Stark gene: PPT1 was added gene: PPT1 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: PPT1 was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | PPP2R5D |
Zornitza Stark gene: PPP2R5D was added gene: PPP2R5D was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: PPP2R5D was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | PPP2R1A |
Zornitza Stark gene: PPP2R1A was added gene: PPP2R1A was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: PPP2R1A was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | PPOX |
Zornitza Stark gene: PPOX was added gene: PPOX was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: PPOX was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | PPM1K |
Zornitza Stark gene: PPM1K was added gene: PPM1K was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: PPM1K was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | PPM1D |
Zornitza Stark gene: PPM1D was added gene: PPM1D was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: PPM1D was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | POU1F1 |
Zornitza Stark gene: POU1F1 was added gene: POU1F1 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: POU1F1 was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | PORCN |
Zornitza Stark gene: PORCN was added gene: PORCN was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: PORCN was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | POP1 |
Zornitza Stark gene: POP1 was added gene: POP1 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: POP1 was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | PON3 |
Zornitza Stark gene: PON3 was added gene: PON3 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: PON3 was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | POMT2 |
Zornitza Stark gene: POMT2 was added gene: POMT2 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: POMT2 was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | POMT1 |
Zornitza Stark gene: POMT1 was added gene: POMT1 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: POMT1 was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | POMK |
Zornitza Stark gene: POMK was added gene: POMK was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: POMK was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | POMGNT2 |
Zornitza Stark gene: POMGNT2 was added gene: POMGNT2 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: POMGNT2 was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | POMGNT1 |
Zornitza Stark gene: POMGNT1 was added gene: POMGNT1 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: POMGNT1 was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | POLR3B |
Zornitza Stark gene: POLR3B was added gene: POLR3B was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: POLR3B was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | POLR3A |
Zornitza Stark gene: POLR3A was added gene: POLR3A was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: POLR3A was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | POC1A |
Zornitza Stark gene: POC1A was added gene: POC1A was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: POC1A was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | PNPT1 |
Zornitza Stark gene: PNPT1 was added gene: PNPT1 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: PNPT1 was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | PNPLA6 |
Zornitza Stark gene: PNPLA6 was added gene: PNPLA6 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: PNPLA6 was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | PNP |
Zornitza Stark gene: PNP was added gene: PNP was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: PNP was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | PNKP |
Zornitza Stark gene: PNKP was added gene: PNKP was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: PNKP was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | PMM2 |
Zornitza Stark gene: PMM2 was added gene: PMM2 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: PMM2 was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | PLP1 |
Zornitza Stark gene: PLP1 was added gene: PLP1 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: PLP1 was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | PLOD3 |
Zornitza Stark gene: PLOD3 was added gene: PLOD3 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: PLOD3 was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | PLCB1 |
Zornitza Stark gene: PLCB1 was added gene: PLCB1 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: PLCB1 was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | PLA2G6 |
Zornitza Stark gene: PLA2G6 was added gene: PLA2G6 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: PLA2G6 was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | PIP5K1B |
Zornitza Stark gene: PIP5K1B was added gene: PIP5K1B was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: PIP5K1B was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | PINK1 |
Zornitza Stark gene: PINK1 was added gene: PINK1 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: PINK1 was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | PIK3R2 |
Zornitza Stark gene: PIK3R2 was added gene: PIK3R2 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: PIK3R2 was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | PIK3R1 |
Zornitza Stark gene: PIK3R1 was added gene: PIK3R1 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: PIK3R1 was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | PIK3CA |
Zornitza Stark gene: PIK3CA was added gene: PIK3CA was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: PIK3CA was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | PIGY |
Zornitza Stark gene: PIGY was added gene: PIGY was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: PIGY was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | PIGW |
Zornitza Stark gene: PIGW was added gene: PIGW was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: PIGW was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | PIGV |
Zornitza Stark gene: PIGV was added gene: PIGV was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: PIGV was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | PIGT |
Zornitza Stark gene: PIGT was added gene: PIGT was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: PIGT was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | PIGO |
Zornitza Stark gene: PIGO was added gene: PIGO was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: PIGO was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | PIGN |
Zornitza Stark gene: PIGN was added gene: PIGN was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: PIGN was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | PIGL |
Zornitza Stark gene: PIGL was added gene: PIGL was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: PIGL was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | PIGG |
Zornitza Stark gene: PIGG was added gene: PIGG was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: PIGG was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | PIGA |
Zornitza Stark gene: PIGA was added gene: PIGA was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: PIGA was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | PIEZO2 |
Zornitza Stark gene: PIEZO2 was added gene: PIEZO2 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: PIEZO2 was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | PHKG2 |
Zornitza Stark gene: PHKG2 was added gene: PHKG2 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: PHKG2 was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | PHKA2 |
Zornitza Stark gene: PHKA2 was added gene: PHKA2 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: PHKA2 was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | PHGDH |
Zornitza Stark gene: PHGDH was added gene: PHGDH was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: PHGDH was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | PHF8 |
Zornitza Stark gene: PHF8 was added gene: PHF8 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: PHF8 was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | PHF6 |
Zornitza Stark gene: PHF6 was added gene: PHF6 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: PHF6 was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | PHC1 |
Zornitza Stark gene: PHC1 was added gene: PHC1 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: PHC1 was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | PGK1 |
Zornitza Stark gene: PGK1 was added gene: PGK1 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: PGK1 was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | PGAP3 |
Zornitza Stark gene: PGAP3 was added gene: PGAP3 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: PGAP3 was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | PGAP2 |
Zornitza Stark gene: PGAP2 was added gene: PGAP2 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: PGAP2 was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | PGAP1 |
Zornitza Stark gene: PGAP1 was added gene: PGAP1 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: PGAP1 was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | PEX7 |
Zornitza Stark gene: PEX7 was added gene: PEX7 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: PEX7 was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | PEX6 |
Zornitza Stark gene: PEX6 was added gene: PEX6 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: PEX6 was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | PEX5 |
Zornitza Stark gene: PEX5 was added gene: PEX5 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: PEX5 was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | PEX3 |
Zornitza Stark gene: PEX3 was added gene: PEX3 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: PEX3 was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | PEX2 |
Zornitza Stark gene: PEX2 was added gene: PEX2 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: PEX2 was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | PEX19 |
Zornitza Stark gene: PEX19 was added gene: PEX19 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: PEX19 was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | PEX16 |
Zornitza Stark gene: PEX16 was added gene: PEX16 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: PEX16 was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | PEX13 |
Zornitza Stark gene: PEX13 was added gene: PEX13 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: PEX13 was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | PEX12 |
Zornitza Stark gene: PEX12 was added gene: PEX12 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: PEX12 was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | PEX11B |
Zornitza Stark gene: PEX11B was added gene: PEX11B was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: PEX11B was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | PEX10 |
Zornitza Stark gene: PEX10 was added gene: PEX10 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: PEX10 was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | PET100 |
Zornitza Stark gene: PET100 was added gene: PET100 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: PET100 was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | PEPD |
Zornitza Stark gene: PEPD was added gene: PEPD was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: PEPD was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | PDSS2 |
Zornitza Stark gene: PDSS2 was added gene: PDSS2 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: PDSS2 was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | PDSS1 |
Zornitza Stark gene: PDSS1 was added gene: PDSS1 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: PDSS1 was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | PDP1 |
Zornitza Stark gene: PDP1 was added gene: PDP1 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: PDP1 was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | PDHX |
Zornitza Stark gene: PDHX was added gene: PDHX was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: PDHX was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | PDHB |
Zornitza Stark gene: PDHB was added gene: PDHB was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: PDHB was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | PDHA1 |
Zornitza Stark gene: PDHA1 was added gene: PDHA1 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: PDHA1 was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | PDGFRB |
Zornitza Stark gene: PDGFRB was added gene: PDGFRB was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: PDGFRB was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | PDGFB |
Zornitza Stark gene: PDGFB was added gene: PDGFB was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: PDGFB was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | PDE6D |
Zornitza Stark gene: PDE6D was added gene: PDE6D was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: PDE6D was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | PDE4D |
Zornitza Stark gene: PDE4D was added gene: PDE4D was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: PDE4D was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | PDE11A |
Zornitza Stark gene: PDE11A was added gene: PDE11A was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: PDE11A was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | PDE10A |
Zornitza Stark gene: PDE10A was added gene: PDE10A was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: PDE10A was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | PCNT |
Zornitza Stark gene: PCNT was added gene: PCNT was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: PCNT was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | PCDH9 |
Zornitza Stark gene: PCDH9 was added gene: PCDH9 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: PCDH9 was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | PCDH19 |
Zornitza Stark gene: PCDH19 was added gene: PCDH19 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: PCDH19 was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | PCDH15 |
Zornitza Stark gene: PCDH15 was added gene: PCDH15 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: PCDH15 was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | PCCB |
Zornitza Stark gene: PCCB was added gene: PCCB was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: PCCB was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | PCCA |
Zornitza Stark gene: PCCA was added gene: PCCA was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: PCCA was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | PCBD1 |
Zornitza Stark gene: PCBD1 was added gene: PCBD1 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: PCBD1 was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | PC |
Zornitza Stark gene: PC was added gene: PC was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: PC was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | PAX6 |
Zornitza Stark gene: PAX6 was added gene: PAX6 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: PAX6 was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | PAX3 |
Zornitza Stark gene: PAX3 was added gene: PAX3 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: PAX3 was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | PAX2 |
Zornitza Stark gene: PAX2 was added gene: PAX2 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: PAX2 was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | PRKN |
Zornitza Stark gene: PRKN was added gene: PRKN was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: PRKN was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | PANK2 |
Zornitza Stark gene: PANK2 was added gene: PANK2 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: PANK2 was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | PAM16 |
Zornitza Stark gene: PAM16 was added gene: PAM16 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: PAM16 was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | PAK3 |
Zornitza Stark gene: PAK3 was added gene: PAK3 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: PAK3 was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | PAH |
Zornitza Stark gene: PAH was added gene: PAH was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: PAH was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | PAFAH1B1 |
Zornitza Stark gene: PAFAH1B1 was added gene: PAFAH1B1 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: PAFAH1B1 was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | PACS1 |
Zornitza Stark gene: PACS1 was added gene: PACS1 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: PACS1 was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | OTX2 |
Zornitza Stark gene: OTX2 was added gene: OTX2 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: OTX2 was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | OTC |
Zornitza Stark gene: OTC was added gene: OTC was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: OTC was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | ORC6 |
Zornitza Stark gene: ORC6 was added gene: ORC6 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: ORC6 was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | ORC1 |
Zornitza Stark gene: ORC1 was added gene: ORC1 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: ORC1 was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | OPHN1 |
Zornitza Stark gene: OPHN1 was added gene: OPHN1 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: OPHN1 was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | OPA3 |
Zornitza Stark gene: OPA3 was added gene: OPA3 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: OPA3 was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | OGT |
Zornitza Stark gene: OGT was added gene: OGT was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: OGT was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | OFD1 |
Zornitza Stark gene: OFD1 was added gene: OFD1 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: OFD1 was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | OCRL |
Zornitza Stark gene: OCRL was added gene: OCRL was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: OCRL was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | OCLN |
Zornitza Stark gene: OCLN was added gene: OCLN was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: OCLN was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | NUP62 |
Zornitza Stark gene: NUP62 was added gene: NUP62 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: NUP62 was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | NUBPL |
Zornitza Stark gene: NUBPL was added gene: NUBPL was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: NUBPL was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | NTRK1 |
Zornitza Stark gene: NTRK1 was added gene: NTRK1 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: NTRK1 was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | NTNG1 |
Zornitza Stark gene: NTNG1 was added gene: NTNG1 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: NTNG1 was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | NT5C2 |
Zornitza Stark gene: NT5C2 was added gene: NT5C2 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: NT5C2 was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | NSUN2 |
Zornitza Stark gene: NSUN2 was added gene: NSUN2 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: NSUN2 was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | NSDHL |
Zornitza Stark gene: NSDHL was added gene: NSDHL was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: NSDHL was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | NSD1 |
Zornitza Stark gene: NSD1 was added gene: NSD1 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: NSD1 was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | NRXN1 |
Zornitza Stark gene: NRXN1 was added gene: NRXN1 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: NRXN1 was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | NRAS |
Zornitza Stark gene: NRAS was added gene: NRAS was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: NRAS was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | NR2F1 |
Zornitza Stark gene: NR2F1 was added gene: NR2F1 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: NR2F1 was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | NPHP3 |
Zornitza Stark gene: NPHP3 was added gene: NPHP3 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: NPHP3 was set to Unknown |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.0 | NPHP1 |
Zornitza Stark gene: NPHP1 was added gene: NPHP1 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: NPHP1 was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | NPC2 |
Zornitza Stark gene: NPC2 was added gene: NPC2 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: NPC2 was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | NPC1 |
Zornitza Stark gene: NPC1 was added gene: NPC1 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: NPC1 was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | NOTCH3 |
Zornitza Stark gene: NOTCH3 was added gene: NOTCH3 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: NOTCH3 was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | NOP10 |
Zornitza Stark gene: NOP10 was added gene: NOP10 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: NOP10 was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | NONO |
Zornitza Stark gene: NONO was added gene: NONO was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: NONO was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | NLGN4X |
Zornitza Stark gene: NLGN4X was added gene: NLGN4X was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: NLGN4X was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | NLGN3 |
Zornitza Stark gene: NLGN3 was added gene: NLGN3 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: NLGN3 was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | NKX2-1 |
Zornitza Stark gene: NKX2-1 was added gene: NKX2-1 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: NKX2-1 was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | NIPBL |
Zornitza Stark gene: NIPBL was added gene: NIPBL was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: NIPBL was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | NIN |
Zornitza Stark gene: NIN was added gene: NIN was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: NIN was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | NHS |
Zornitza Stark gene: NHS was added gene: NHS was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: NHS was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | NHP2 |
Zornitza Stark gene: NHP2 was added gene: NHP2 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: NHP2 was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | NHLRC1 |
Zornitza Stark gene: NHLRC1 was added gene: NHLRC1 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: NHLRC1 was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | NHEJ1 |
Zornitza Stark gene: NHEJ1 was added gene: NHEJ1 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: NHEJ1 was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | NGLY1 |
Zornitza Stark gene: NGLY1 was added gene: NGLY1 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: NGLY1 was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | NGF |
Zornitza Stark gene: NGF was added gene: NGF was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: NGF was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | NFU1 |
Zornitza Stark gene: NFU1 was added gene: NFU1 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: NFU1 was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | NFIX |
Zornitza Stark gene: NFIX was added gene: NFIX was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: NFIX was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | NFIA |
Zornitza Stark gene: NFIA was added gene: NFIA was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: NFIA was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | NF1 |
Zornitza Stark gene: NF1 was added gene: NF1 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: NF1 was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | NEU1 |
Zornitza Stark gene: NEU1 was added gene: NEU1 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: NEU1 was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | NEGR1 |
Zornitza Stark gene: NEGR1 was added gene: NEGR1 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: NEGR1 was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | NEDD4L |
Zornitza Stark gene: NEDD4L was added gene: NEDD4L was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: NEDD4L was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | NECAP1 |
Zornitza Stark gene: NECAP1 was added gene: NECAP1 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: NECAP1 was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | NDUFV2 |
Zornitza Stark gene: NDUFV2 was added gene: NDUFV2 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: NDUFV2 was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | NDUFV1 |
Zornitza Stark gene: NDUFV1 was added gene: NDUFV1 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: NDUFV1 was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | NDUFS8 |
Zornitza Stark gene: NDUFS8 was added gene: NDUFS8 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: NDUFS8 was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | NDUFS7 |
Zornitza Stark gene: NDUFS7 was added gene: NDUFS7 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: NDUFS7 was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | NDUFS6 |
Zornitza Stark gene: NDUFS6 was added gene: NDUFS6 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: NDUFS6 was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | NDUFS4 |
Zornitza Stark gene: NDUFS4 was added gene: NDUFS4 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: NDUFS4 was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | NDUFS3 |
Zornitza Stark gene: NDUFS3 was added gene: NDUFS3 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: NDUFS3 was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | NDUFS2 |
Zornitza Stark gene: NDUFS2 was added gene: NDUFS2 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: NDUFS2 was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | NDUFS1 |
Zornitza Stark gene: NDUFS1 was added gene: NDUFS1 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: NDUFS1 was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | NDUFB9 |
Zornitza Stark gene: NDUFB9 was added gene: NDUFB9 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: NDUFB9 was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | NDUFB3 |
Zornitza Stark gene: NDUFB3 was added gene: NDUFB3 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: NDUFB3 was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | NDUFAF6 |
Zornitza Stark gene: NDUFAF6 was added gene: NDUFAF6 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: NDUFAF6 was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | NDUFAF5 |
Zornitza Stark gene: NDUFAF5 was added gene: NDUFAF5 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: NDUFAF5 was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | NDUFAF4 |
Zornitza Stark gene: NDUFAF4 was added gene: NDUFAF4 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: NDUFAF4 was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | NDUFAF3 |
Zornitza Stark gene: NDUFAF3 was added gene: NDUFAF3 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: NDUFAF3 was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | NDUFAF2 |
Zornitza Stark gene: NDUFAF2 was added gene: NDUFAF2 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: NDUFAF2 was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | NDUFAF1 |
Zornitza Stark gene: NDUFAF1 was added gene: NDUFAF1 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: NDUFAF1 was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | NDUFA9 |
Zornitza Stark gene: NDUFA9 was added gene: NDUFA9 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: NDUFA9 was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | NDUFA2 |
Zornitza Stark gene: NDUFA2 was added gene: NDUFA2 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: NDUFA2 was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | NDUFA11 |
Zornitza Stark gene: NDUFA11 was added gene: NDUFA11 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: NDUFA11 was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | NDUFA10 |
Zornitza Stark gene: NDUFA10 was added gene: NDUFA10 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: NDUFA10 was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | NDUFA1 |
Zornitza Stark gene: NDUFA1 was added gene: NDUFA1 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: NDUFA1 was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | NDST1 |
Zornitza Stark gene: NDST1 was added gene: NDST1 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: NDST1 was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | NDP |
Zornitza Stark gene: NDP was added gene: NDP was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: NDP was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | NDN |
Zornitza Stark gene: NDN was added gene: NDN was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: NDN was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | NDE1 |
Zornitza Stark gene: NDE1 was added gene: NDE1 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: NDE1 was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | NBN |
Zornitza Stark gene: NBN was added gene: NBN was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: NBN was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | NALCN |
Zornitza Stark gene: NALCN was added gene: NALCN was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: NALCN was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | NAGS |
Zornitza Stark gene: NAGS was added gene: NAGS was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: NAGS was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | NAGLU |
Zornitza Stark gene: NAGLU was added gene: NAGLU was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: NAGLU was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | NAGA |
Zornitza Stark gene: NAGA was added gene: NAGA was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: NAGA was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | NAA10 |
Zornitza Stark gene: NAA10 was added gene: NAA10 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: NAA10 was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | MYT1L |
Zornitza Stark gene: MYT1L was added gene: MYT1L was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: MYT1L was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | MYO7A |
Zornitza Stark gene: MYO7A was added gene: MYO7A was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: MYO7A was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | MYO5A |
Zornitza Stark gene: MYO5A was added gene: MYO5A was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: MYO5A was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | MYH3 |
Zornitza Stark gene: MYH3 was added gene: MYH3 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: MYH3 was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | MYCN |
Zornitza Stark gene: MYCN was added gene: MYCN was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: MYCN was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | MVK |
Zornitza Stark gene: MVK was added gene: MVK was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: MVK was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | MUT |
Zornitza Stark gene: MUT was added gene: MUT was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: MUT was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | MTRR |
Zornitza Stark gene: MTRR was added gene: MTRR was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: MTRR was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | MTR |
Zornitza Stark gene: MTR was added gene: MTR was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: MTR was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | MTPAP |
Zornitza Stark gene: MTPAP was added gene: MTPAP was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: MTPAP was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | MTO1 |
Zornitza Stark gene: MTO1 was added gene: MTO1 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: MTO1 was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | MTMR2 |
Zornitza Stark gene: MTMR2 was added gene: MTMR2 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: MTMR2 was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | MTM1 |
Zornitza Stark gene: MTM1 was added gene: MTM1 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: MTM1 was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | MTHFR |
Zornitza Stark gene: MTHFR was added gene: MTHFR was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: MTHFR was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | MTFMT |
Zornitza Stark gene: MTFMT was added gene: MTFMT was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: MTFMT was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | MSH6 |
Zornitza Stark gene: MSH6 was added gene: MSH6 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: MSH6 was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | MRPS22 |
Zornitza Stark gene: MRPS22 was added gene: MRPS22 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: MRPS22 was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | MRPS16 |
Zornitza Stark gene: MRPS16 was added gene: MRPS16 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: MRPS16 was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | MRPL3 |
Zornitza Stark gene: MRPL3 was added gene: MRPL3 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: MRPL3 was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | MRAP |
Zornitza Stark gene: MRAP was added gene: MRAP was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: MRAP was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | MPZ |
Zornitza Stark gene: MPZ was added gene: MPZ was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: MPZ was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | MPV17 |
Zornitza Stark gene: MPV17 was added gene: MPV17 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: MPV17 was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | MPLKIP |
Zornitza Stark gene: MPLKIP was added gene: MPLKIP was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: MPLKIP was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | MPI |
Zornitza Stark gene: MPI was added gene: MPI was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: MPI was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | MPDZ |
Zornitza Stark gene: MPDZ was added gene: MPDZ was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: MPDZ was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | MPDU1 |
Zornitza Stark gene: MPDU1 was added gene: MPDU1 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: MPDU1 was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | MOGS |
Zornitza Stark gene: MOGS was added gene: MOGS was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: MOGS was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | MOCS2 |
Zornitza Stark gene: MOCS2 was added gene: MOCS2 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: MOCS2 was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | MOCS1 |
Zornitza Stark gene: MOCS1 was added gene: MOCS1 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: MOCS1 was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | MNX1 |
Zornitza Stark gene: MNX1 was added gene: MNX1 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: MNX1 was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | MMADHC |
Zornitza Stark gene: MMADHC was added gene: MMADHC was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: MMADHC was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | MMACHC |
Zornitza Stark gene: MMACHC was added gene: MMACHC was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: MMACHC was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | MMAB |
Zornitza Stark gene: MMAB was added gene: MMAB was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: MMAB was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | MMAA |
Zornitza Stark gene: MMAA was added gene: MMAA was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: MMAA was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | MLYCD |
Zornitza Stark gene: MLYCD was added gene: MLYCD was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: MLYCD was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | MLH1 |
Zornitza Stark gene: MLH1 was added gene: MLH1 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: MLH1 was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | MLC1 |
Zornitza Stark gene: MLC1 was added gene: MLC1 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: MLC1 was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | MKS1 |
Zornitza Stark gene: MKS1 was added gene: MKS1 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: MKS1 was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | MKKS |
Zornitza Stark gene: MKKS was added gene: MKKS was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: MKKS was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | MIR17HG |
Zornitza Stark gene: MIR17HG was added gene: MIR17HG was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: MIR17HG was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | MID2 |
Zornitza Stark gene: MID2 was added gene: MID2 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: MID2 was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | MID1 |
Zornitza Stark gene: MID1 was added gene: MID1 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: MID1 was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | MGP |
Zornitza Stark gene: MGP was added gene: MGP was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: MGP was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | MGME1 |
Zornitza Stark gene: MGME1 was added gene: MGME1 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: MGME1 was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | MGAT2 |
Zornitza Stark gene: MGAT2 was added gene: MGAT2 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: MGAT2 was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | MFSD8 |
Zornitza Stark gene: MFSD8 was added gene: MFSD8 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: MFSD8 was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | MFN2 |
Zornitza Stark gene: MFN2 was added gene: MFN2 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: MFN2 was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | METTL23 |
Zornitza Stark gene: METTL23 was added gene: METTL23 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: METTL23 was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | MET |
Zornitza Stark gene: MET was added gene: MET was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: MET was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | MEIS2 |
Zornitza Stark gene: MEIS2 was added gene: MEIS2 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: MEIS2 was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | MEGF8 |
Zornitza Stark gene: MEGF8 was added gene: MEGF8 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: MEGF8 was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | MEF2C |
Zornitza Stark gene: MEF2C was added gene: MEF2C was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: MEF2C was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | MED23 |
Zornitza Stark gene: MED23 was added gene: MED23 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: MED23 was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | MED17 |
Zornitza Stark gene: MED17 was added gene: MED17 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: MED17 was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | MED13L |
Zornitza Stark gene: MED13L was added gene: MED13L was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: MED13L was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | MED12 |
Zornitza Stark gene: MED12 was added gene: MED12 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: MED12 was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | MECP2 |
Zornitza Stark gene: MECP2 was added gene: MECP2 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: MECP2 was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | MCPH1 |
Zornitza Stark gene: MCPH1 was added gene: MCPH1 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: MCPH1 was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | MCOLN1 |
Zornitza Stark gene: MCOLN1 was added gene: MCOLN1 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: MCOLN1 was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | MCM4 |
Zornitza Stark gene: MCM4 was added gene: MCM4 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: MCM4 was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | MCCC2 |
Zornitza Stark gene: MCCC2 was added gene: MCCC2 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: MCCC2 was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | MCCC1 |
Zornitza Stark gene: MCCC1 was added gene: MCCC1 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: MCCC1 was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | MBTPS2 |
Zornitza Stark gene: MBTPS2 was added gene: MBTPS2 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: MBTPS2 was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | MBD5 |
Zornitza Stark gene: MBD5 was added gene: MBD5 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: MBD5 was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | MAT1A |
Zornitza Stark gene: MAT1A was added gene: MAT1A was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: MAT1A was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | MASP1 |
Zornitza Stark gene: MASP1 was added gene: MASP1 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: MASP1 was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | MARS2 |
Zornitza Stark gene: MARS2 was added gene: MARS2 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: MARS2 was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | MAP2K2 |
Zornitza Stark gene: MAP2K2 was added gene: MAP2K2 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: MAP2K2 was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | MAP2K1 |
Zornitza Stark gene: MAP2K1 was added gene: MAP2K1 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: MAP2K1 was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | MAOA |
Zornitza Stark gene: MAOA was added gene: MAOA was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: MAOA was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | MANBA |
Zornitza Stark gene: MANBA was added gene: MANBA was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: MANBA was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | MAN2B1 |
Zornitza Stark gene: MAN2B1 was added gene: MAN2B1 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: MAN2B1 was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | MAN1B1 |
Zornitza Stark gene: MAN1B1 was added gene: MAN1B1 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: MAN1B1 was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | MAGT1 |
Zornitza Stark gene: MAGT1 was added gene: MAGT1 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: MAGT1 was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | MAGEL2 |
Zornitza Stark gene: MAGEL2 was added gene: MAGEL2 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: MAGEL2 was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | LZTFL1 |
Zornitza Stark gene: LZTFL1 was added gene: LZTFL1 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: LZTFL1 was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | LYST |
Zornitza Stark gene: LYST was added gene: LYST was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: LYST was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | LYRM7 |
Zornitza Stark gene: LYRM7 was added gene: LYRM7 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: LYRM7 was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | LRPPRC |
Zornitza Stark gene: LRPPRC was added gene: LRPPRC was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: LRPPRC was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | LRP5 |
Zornitza Stark gene: LRP5 was added gene: LRP5 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: LRP5 was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | LRP2 |
Zornitza Stark gene: LRP2 was added gene: LRP2 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: LRP2 was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | LMNB1 |
Zornitza Stark gene: LMNB1 was added gene: LMNB1 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: LMNB1 was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | LMNA |
Zornitza Stark gene: LMNA was added gene: LMNA was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: LMNA was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | LMBRD1 |
Zornitza Stark gene: LMBRD1 was added gene: LMBRD1 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: LMBRD1 was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | LIPT1 |
Zornitza Stark gene: LIPT1 was added gene: LIPT1 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: LIPT1 was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | LIG4 |
Zornitza Stark gene: LIG4 was added gene: LIG4 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: LIG4 was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | LIAS |
Zornitza Stark gene: LIAS was added gene: LIAS was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: LIAS was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | LHX3 |
Zornitza Stark gene: LHX3 was added gene: LHX3 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: LHX3 was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | LBR |
Zornitza Stark gene: LBR was added gene: LBR was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: LBR was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | LAS1L |
Zornitza Stark gene: LAS1L was added gene: LAS1L was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: LAS1L was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | LARP7 |
Zornitza Stark gene: LARP7 was added gene: LARP7 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: LARP7 was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | LAMP2 |
Zornitza Stark gene: LAMP2 was added gene: LAMP2 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: LAMP2 was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | LAMC3 |
Zornitza Stark gene: LAMC3 was added gene: LAMC3 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: LAMC3 was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | LAMB2 |
Zornitza Stark gene: LAMB2 was added gene: LAMB2 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: LAMB2 was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | LAMB1 |
Zornitza Stark gene: LAMB1 was added gene: LAMB1 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: LAMB1 was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | LAMA2 |
Zornitza Stark gene: LAMA2 was added gene: LAMA2 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: LAMA2 was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | LAMA1 |
Zornitza Stark gene: LAMA1 was added gene: LAMA1 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: LAMA1 was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | L2HGDH |
Zornitza Stark gene: L2HGDH was added gene: L2HGDH was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: L2HGDH was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | L1CAM |
Zornitza Stark gene: L1CAM was added gene: L1CAM was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: L1CAM was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | KYNU |
Zornitza Stark gene: KYNU was added gene: KYNU was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: KYNU was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | KRAS |
Zornitza Stark gene: KRAS was added gene: KRAS was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: KRAS was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | KPTN |
Zornitza Stark gene: KPTN was added gene: KPTN was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: KPTN was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | KMT2D |
Zornitza Stark gene: KMT2D was added gene: KMT2D was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: KMT2D was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | KMT2C |
Zornitza Stark gene: KMT2C was added gene: KMT2C was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: KMT2C was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | KMT2B |
Zornitza Stark gene: KMT2B was added gene: KMT2B was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: KMT2B was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | KMT2A |
Zornitza Stark gene: KMT2A was added gene: KMT2A was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: KMT2A was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | KLLN |
Zornitza Stark gene: KLLN was added gene: KLLN was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: KLLN was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | KLF8 |
Zornitza Stark gene: KLF8 was added gene: KLF8 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: KLF8 was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | KIRREL3 |
Zornitza Stark gene: KIRREL3 was added gene: KIRREL3 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: KIRREL3 was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | KIF7 |
Zornitza Stark gene: KIF7 was added gene: KIF7 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: KIF7 was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | KIF5A |
Zornitza Stark gene: KIF5A was added gene: KIF5A was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: KIF5A was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | KIF21A |
Zornitza Stark gene: KIF21A was added gene: KIF21A was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: KIF21A was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | KIF1A |
Zornitza Stark gene: KIF1A was added gene: KIF1A was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: KIF1A was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | KIF11 |
Zornitza Stark gene: KIF11 was added gene: KIF11 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: KIF11 was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | WASHC4 |
Zornitza Stark gene: WASHC4 was added gene: WASHC4 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: WASHC4 was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | RUBCN |
Zornitza Stark gene: RUBCN was added gene: RUBCN was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: RUBCN was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | WASHC5 |
Zornitza Stark gene: WASHC5 was added gene: WASHC5 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: WASHC5 was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | KDM6A |
Zornitza Stark gene: KDM6A was added gene: KDM6A was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: KDM6A was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | KDM5C |
Zornitza Stark gene: KDM5C was added gene: KDM5C was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: KDM5C was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | KCTD7 |
Zornitza Stark gene: KCTD7 was added gene: KCTD7 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: KCTD7 was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | KCTD13 |
Zornitza Stark gene: KCTD13 was added gene: KCTD13 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: KCTD13 was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | KCNT1 |
Zornitza Stark gene: KCNT1 was added gene: KCNT1 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: KCNT1 was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | KCNQ2 |
Zornitza Stark gene: KCNQ2 was added gene: KCNQ2 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: KCNQ2 was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | KCNK9 |
Zornitza Stark gene: KCNK9 was added gene: KCNK9 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: KCNK9 was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | KCNJ11 |
Zornitza Stark gene: KCNJ11 was added gene: KCNJ11 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: KCNJ11 was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | KCNJ10 |
Zornitza Stark gene: KCNJ10 was added gene: KCNJ10 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: KCNJ10 was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | KCNJ1 |
Zornitza Stark gene: KCNJ1 was added gene: KCNJ1 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: KCNJ1 was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | KCND3 |
Zornitza Stark gene: KCND3 was added gene: KCND3 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: KCND3 was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | KCNC3 |
Zornitza Stark gene: KCNC3 was added gene: KCNC3 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: KCNC3 was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | KCNB1 |
Zornitza Stark gene: KCNB1 was added gene: KCNB1 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: KCNB1 was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | KATNAL2 |
Zornitza Stark gene: KATNAL2 was added gene: KATNAL2 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: KATNAL2 was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | KAT6B |
Zornitza Stark gene: KAT6B was added gene: KAT6B was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: KAT6B was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | KAT6A |
Zornitza Stark gene: KAT6A was added gene: KAT6A was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: KAT6A was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | KANSL1 |
Zornitza Stark gene: KANSL1 was added gene: KANSL1 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: KANSL1 was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | KANK1 |
Zornitza Stark gene: KANK1 was added gene: KANK1 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: KANK1 was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | JAM3 |
Zornitza Stark gene: JAM3 was added gene: JAM3 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: JAM3 was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | JAG1 |
Zornitza Stark gene: JAG1 was added gene: JAG1 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: JAG1 was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | IYD |
Zornitza Stark gene: IYD was added gene: IYD was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: IYD was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | IVD |
Zornitza Stark gene: IVD was added gene: IVD was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: IVD was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | ITPR1 |
Zornitza Stark gene: ITPR1 was added gene: ITPR1 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: ITPR1 was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | ITGA7 |
Zornitza Stark gene: ITGA7 was added gene: ITGA7 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: ITGA7 was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | ITCH |
Zornitza Stark gene: ITCH was added gene: ITCH was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: ITCH was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | ISPD |
Zornitza Stark gene: ISPD was added gene: ISPD was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: ISPD was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | IRX5 |
Zornitza Stark gene: IRX5 was added gene: IRX5 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: IRX5 was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | IQSEC2 |
Zornitza Stark gene: IQSEC2 was added gene: IQSEC2 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: IQSEC2 was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | INSR |
Zornitza Stark gene: INSR was added gene: INSR was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: INSR was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | INS |
Zornitza Stark gene: INS was added gene: INS was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: INS was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | INPP5E |
Zornitza Stark gene: INPP5E was added gene: INPP5E was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: INPP5E was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | IMPA1 |
Zornitza Stark gene: IMPA1 was added gene: IMPA1 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: IMPA1 was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | IMMP2L |
Zornitza Stark gene: IMMP2L was added gene: IMMP2L was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: IMMP2L was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | IL1RAPL1 |
Zornitza Stark gene: IL1RAPL1 was added gene: IL1RAPL1 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: IL1RAPL1 was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | IKBKG |
Zornitza Stark gene: IKBKG was added gene: IKBKG was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: IKBKG was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | IGF2 |
Zornitza Stark gene: IGF2 was added gene: IGF2 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: IGF2 was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | IGF1R |
Zornitza Stark gene: IGF1R was added gene: IGF1R was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: IGF1R was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | IGF1 |
Zornitza Stark gene: IGF1 was added gene: IGF1 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: IGF1 was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | IGBP1 |
Zornitza Stark gene: IGBP1 was added gene: IGBP1 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: IGBP1 was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | IFT27 |
Zornitza Stark gene: IFT27 was added gene: IFT27 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: IFT27 was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | IFT172 |
Zornitza Stark gene: IFT172 was added gene: IFT172 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: IFT172 was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | IFT140 |
Zornitza Stark gene: IFT140 was added gene: IFT140 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: IFT140 was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | IFIH1 |
Zornitza Stark gene: IFIH1 was added gene: IFIH1 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: IFIH1 was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | IER3IP1 |
Zornitza Stark gene: IER3IP1 was added gene: IER3IP1 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: IER3IP1 was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | IDUA |
Zornitza Stark gene: IDUA was added gene: IDUA was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: IDUA was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | IDS |
Zornitza Stark gene: IDS was added gene: IDS was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: IDS was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | IDH2 |
Zornitza Stark gene: IDH2 was added gene: IDH2 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: IDH2 was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | IBA57 |
Zornitza Stark gene: IBA57 was added gene: IBA57 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: IBA57 was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | HYLS1 |
Zornitza Stark gene: HYLS1 was added gene: HYLS1 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: HYLS1 was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | HUWE1 |
Zornitza Stark gene: HUWE1 was added gene: HUWE1 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: HUWE1 was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | HTRA2 |
Zornitza Stark gene: HTRA2 was added gene: HTRA2 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: HTRA2 was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | HSPG2 |
Zornitza Stark gene: HSPG2 was added gene: HSPG2 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: HSPG2 was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | HSPD1 |
Zornitza Stark gene: HSPD1 was added gene: HSPD1 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: HSPD1 was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | HSD17B4 |
Zornitza Stark gene: HSD17B4 was added gene: HSD17B4 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: HSD17B4 was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | HSD17B10 |
Zornitza Stark gene: HSD17B10 was added gene: HSD17B10 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: HSD17B10 was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | HRAS |
Zornitza Stark gene: HRAS was added gene: HRAS was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: HRAS was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | HPRT1 |
Zornitza Stark gene: HPRT1 was added gene: HPRT1 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: HPRT1 was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | HPD |
Zornitza Stark gene: HPD was added gene: HPD was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: HPD was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | HOXD10 |
Zornitza Stark gene: HOXD10 was added gene: HOXD10 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: HOXD10 was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | HOXA1 |
Zornitza Stark gene: HOXA1 was added gene: HOXA1 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: HOXA1 was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | HNRNPU |
Zornitza Stark gene: HNRNPU was added gene: HNRNPU was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: HNRNPU was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | HNMT |
Zornitza Stark gene: HNMT was added gene: HNMT was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: HNMT was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | HMGCL |
Zornitza Stark gene: HMGCL was added gene: HMGCL was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: HMGCL was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | HLCS |
Zornitza Stark gene: HLCS was added gene: HLCS was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: HLCS was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | HIVEP2 |
Zornitza Stark gene: HIVEP2 was added gene: HIVEP2 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: HIVEP2 was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | HIBCH |
Zornitza Stark gene: HIBCH was added gene: HIBCH was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: HIBCH was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | HGSNAT |
Zornitza Stark gene: HGSNAT was added gene: HGSNAT was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: HGSNAT was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | HEXB |
Zornitza Stark gene: HEXB was added gene: HEXB was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: HEXB was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | HEXA |
Zornitza Stark gene: HEXA was added gene: HEXA was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: HEXA was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | HESX1 |
Zornitza Stark gene: HESX1 was added gene: HESX1 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: HESX1 was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | HERC2 |
Zornitza Stark gene: HERC2 was added gene: HERC2 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: HERC2 was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | HEPACAM |
Zornitza Stark gene: HEPACAM was added gene: HEPACAM was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: HEPACAM was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | HECW2 |
Zornitza Stark gene: HECW2 was added gene: HECW2 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: HECW2 was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | HDAC8 |
Zornitza Stark gene: HDAC8 was added gene: HDAC8 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: HDAC8 was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | HDAC4 |
Zornitza Stark gene: HDAC4 was added gene: HDAC4 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: HDAC4 was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | HCN1 |
Zornitza Stark gene: HCN1 was added gene: HCN1 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: HCN1 was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | HCFC1 |
Zornitza Stark gene: HCFC1 was added gene: HCFC1 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: HCFC1 was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | HCCS |
Zornitza Stark gene: HCCS was added gene: HCCS was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: HCCS was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | HAX1 |
Zornitza Stark gene: HAX1 was added gene: HAX1 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: HAX1 was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | HAL |
Zornitza Stark gene: HAL was added gene: HAL was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: HAL was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | HADHB |
Zornitza Stark gene: HADHB was added gene: HADHB was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: HADHB was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | HADHA |
Zornitza Stark gene: HADHA was added gene: HADHA was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: HADHA was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | H19 |
Zornitza Stark gene: H19 was added gene: H19 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: H19 was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | GYS2 |
Zornitza Stark gene: GYS2 was added gene: GYS2 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: GYS2 was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | GUSB |
Zornitza Stark gene: GUSB was added gene: GUSB was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: GUSB was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | GTF2IRD1 |
Zornitza Stark gene: GTF2IRD1 was added gene: GTF2IRD1 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: GTF2IRD1 was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | GTF2I |
Zornitza Stark gene: GTF2I was added gene: GTF2I was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: GTF2I was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | GSS |
Zornitza Stark gene: GSS was added gene: GSS was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: GSS was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | GSPT2 |
Zornitza Stark gene: GSPT2 was added gene: GSPT2 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: GSPT2 was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | GRPR |
Zornitza Stark gene: GRPR was added gene: GRPR was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: GRPR was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | GRM1 |
Zornitza Stark gene: GRM1 was added gene: GRM1 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: GRM1 was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | GRIN2B |
Zornitza Stark gene: GRIN2B was added gene: GRIN2B was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: GRIN2B was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | GRIN2A |
Zornitza Stark gene: GRIN2A was added gene: GRIN2A was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: GRIN2A was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | GRIN1 |
Zornitza Stark gene: GRIN1 was added gene: GRIN1 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: GRIN1 was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | GRIK2 |
Zornitza Stark gene: GRIK2 was added gene: GRIK2 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: GRIK2 was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | GRIA3 |
Zornitza Stark gene: GRIA3 was added gene: GRIA3 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: GRIA3 was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | GPSM2 |
Zornitza Stark gene: GPSM2 was added gene: GPSM2 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: GPSM2 was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | GPHN |
Zornitza Stark gene: GPHN was added gene: GPHN was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: GPHN was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | GOSR2 |
Zornitza Stark gene: GOSR2 was added gene: GOSR2 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: GOSR2 was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | GORAB |
Zornitza Stark gene: GORAB was added gene: GORAB was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: GORAB was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | GNS |
Zornitza Stark gene: GNS was added gene: GNS was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: GNS was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | GNPTG |
Zornitza Stark gene: GNPTG was added gene: GNPTG was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: GNPTG was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | GNPTAB |
Zornitza Stark gene: GNPTAB was added gene: GNPTAB was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: GNPTAB was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | GNPAT |
Zornitza Stark gene: GNPAT was added gene: GNPAT was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: GNPAT was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | GNE |
Zornitza Stark gene: GNE was added gene: GNE was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: GNE was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | GNB1 |
Zornitza Stark gene: GNB1 was added gene: GNB1 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: GNB1 was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | GNAS |
Zornitza Stark gene: GNAS was added gene: GNAS was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: GNAS was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | GNAQ |
Zornitza Stark gene: GNAQ was added gene: GNAQ was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: GNAQ was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | GNAO1 |
Zornitza Stark gene: GNAO1 was added gene: GNAO1 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: GNAO1 was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | GNA14 |
Zornitza Stark gene: GNA14 was added gene: GNA14 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: GNA14 was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | GMPPB |
Zornitza Stark gene: GMPPB was added gene: GMPPB was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: GMPPB was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | GMPPA |
Zornitza Stark gene: GMPPA was added gene: GMPPA was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: GMPPA was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | GM2A |
Zornitza Stark gene: GM2A was added gene: GM2A was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: GM2A was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | GLYCTK |
Zornitza Stark gene: GLYCTK was added gene: GLYCTK was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: GLYCTK was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | GLUL |
Zornitza Stark gene: GLUL was added gene: GLUL was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: GLUL was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | GLUD1 |
Zornitza Stark gene: GLUD1 was added gene: GLUD1 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: GLUD1 was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | GLRA1 |
Zornitza Stark gene: GLRA1 was added gene: GLRA1 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: GLRA1 was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | GLI3 |
Zornitza Stark gene: GLI3 was added gene: GLI3 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: GLI3 was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | GLI2 |
Zornitza Stark gene: GLI2 was added gene: GLI2 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: GLI2 was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | GLDC |
Zornitza Stark gene: GLDC was added gene: GLDC was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: GLDC was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | GLB1 |
Zornitza Stark gene: GLB1 was added gene: GLB1 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: GLB1 was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | GK |
Zornitza Stark gene: GK was added gene: GK was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: GK was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | GJC2 |
Zornitza Stark gene: GJC2 was added gene: GJC2 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: GJC2 was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | GJB1 |
Zornitza Stark gene: GJB1 was added gene: GJB1 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: GJB1 was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | GJA1 |
Zornitza Stark gene: GJA1 was added gene: GJA1 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: GJA1 was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | GHR |
Zornitza Stark gene: GHR was added gene: GHR was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: GHR was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | GFM1 |
Zornitza Stark gene: GFM1 was added gene: GFM1 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: GFM1 was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | GFER |
Zornitza Stark gene: GFER was added gene: GFER was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: GFER was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | GFAP |
Zornitza Stark gene: GFAP was added gene: GFAP was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: GFAP was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | GDI1 |
Zornitza Stark gene: GDI1 was added gene: GDI1 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: GDI1 was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | GCSH |
Zornitza Stark gene: GCSH was added gene: GCSH was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: GCSH was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | GCK |
Zornitza Stark gene: GCK was added gene: GCK was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: GCK was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | GCDH |
Zornitza Stark gene: GCDH was added gene: GCDH was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: GCDH was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | GBE1 |
Zornitza Stark gene: GBE1 was added gene: GBE1 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: GBE1 was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | GBA2 |
Zornitza Stark gene: GBA2 was added gene: GBA2 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: GBA2 was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | GBA |
Zornitza Stark gene: GBA was added gene: GBA was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: GBA was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | GATM |
Zornitza Stark gene: GATM was added gene: GATM was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: GATM was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | GATAD2B |
Zornitza Stark gene: GATAD2B was added gene: GATAD2B was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: GATAD2B was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | GATA6 |
Zornitza Stark gene: GATA6 was added gene: GATA6 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: GATA6 was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | GATA1 |
Zornitza Stark gene: GATA1 was added gene: GATA1 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: GATA1 was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | GAN |
Zornitza Stark gene: GAN was added gene: GAN was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: GAN was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | GAMT |
Zornitza Stark gene: GAMT was added gene: GAMT was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: GAMT was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | GALT |
Zornitza Stark gene: GALT was added gene: GALT was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: GALT was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | GALE |
Zornitza Stark gene: GALE was added gene: GALE was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: GALE was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | GAD1 |
Zornitza Stark gene: GAD1 was added gene: GAD1 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: GAD1 was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | GABRG2 |
Zornitza Stark gene: GABRG2 was added gene: GABRG2 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: GABRG2 was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | GABRG1 |
Zornitza Stark gene: GABRG1 was added gene: GABRG1 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: GABRG1 was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | GABRB3 |
Zornitza Stark gene: GABRB3 was added gene: GABRB3 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: GABRB3 was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | GABRA1 |
Zornitza Stark gene: GABRA1 was added gene: GABRA1 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: GABRA1 was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | G6PC3 |
Zornitza Stark gene: G6PC3 was added gene: G6PC3 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: G6PC3 was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | FUCA1 |
Zornitza Stark gene: FUCA1 was added gene: FUCA1 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: FUCA1 was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | FTSJ1 |
Zornitza Stark gene: FTSJ1 was added gene: FTSJ1 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: FTSJ1 was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | FTO |
Zornitza Stark gene: FTO was added gene: FTO was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: FTO was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | FTL |
Zornitza Stark gene: FTL was added gene: FTL was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: FTL was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | FRMPD4 |
Zornitza Stark gene: FRMPD4 was added gene: FRMPD4 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: FRMPD4 was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | FRAS1 |
Zornitza Stark gene: FRAS1 was added gene: FRAS1 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: FRAS1 was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | FOXRED1 |
Zornitza Stark gene: FOXRED1 was added gene: FOXRED1 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: FOXRED1 was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | FOXP2 |
Zornitza Stark gene: FOXP2 was added gene: FOXP2 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: FOXP2 was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | FOXP1 |
Zornitza Stark gene: FOXP1 was added gene: FOXP1 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: FOXP1 was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | FOXG1 |
Zornitza Stark gene: FOXG1 was added gene: FOXG1 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: FOXG1 was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | FOLR1 |
Zornitza Stark gene: FOLR1 was added gene: FOLR1 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: FOLR1 was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | FMR1 |
Zornitza Stark gene: FMR1 was added gene: FMR1 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: FMR1 was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | FMN2 |
Zornitza Stark gene: FMN2 was added gene: FMN2 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: FMN2 was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | FLVCR1 |
Zornitza Stark gene: FLVCR1 was added gene: FLVCR1 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: FLVCR1 was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | FLNB |
Zornitza Stark gene: FLNB was added gene: FLNB was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: FLNB was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | FLNA |
Zornitza Stark gene: FLNA was added gene: FLNA was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: FLNA was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | FKTN |
Zornitza Stark gene: FKTN was added gene: FKTN was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: FKTN was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | FKRP |
Zornitza Stark gene: FKRP was added gene: FKRP was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: FKRP was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | FIG4 |
Zornitza Stark gene: FIG4 was added gene: FIG4 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: FIG4 was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | FH |
Zornitza Stark gene: FH was added gene: FH was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: FH was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | FGFR3 |
Zornitza Stark gene: FGFR3 was added gene: FGFR3 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: FGFR3 was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | FGFR2 |
Zornitza Stark gene: FGFR2 was added gene: FGFR2 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: FGFR2 was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | FGFR1 |
Zornitza Stark gene: FGFR1 was added gene: FGFR1 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: FGFR1 was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | FGF3 |
Zornitza Stark gene: FGF3 was added gene: FGF3 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: FGF3 was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | FGF14 |
Zornitza Stark gene: FGF14 was added gene: FGF14 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: FGF14 was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | FGD1 |
Zornitza Stark gene: FGD1 was added gene: FGD1 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: FGD1 was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | FBXO31 |
Zornitza Stark gene: FBXO31 was added gene: FBXO31 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: FBXO31 was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | FBXL4 |
Zornitza Stark gene: FBXL4 was added gene: FBXL4 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: FBXL4 was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | FBN1 |
Zornitza Stark gene: FBN1 was added gene: FBN1 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: FBN1 was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | FBLN5 |
Zornitza Stark gene: FBLN5 was added gene: FBLN5 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: FBLN5 was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | FAT4 |
Zornitza Stark gene: FAT4 was added gene: FAT4 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: FAT4 was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | FASTKD2 |
Zornitza Stark gene: FASTKD2 was added gene: FASTKD2 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: FASTKD2 was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | FARS2 |
Zornitza Stark gene: FARS2 was added gene: FARS2 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: FARS2 was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | FANCG |
Zornitza Stark gene: FANCG was added gene: FANCG was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: FANCG was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | FANCD2 |
Zornitza Stark gene: FANCD2 was added gene: FANCD2 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: FANCD2 was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | FANCB |
Zornitza Stark gene: FANCB was added gene: FANCB was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: FANCB was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | FAM20C |
Zornitza Stark gene: FAM20C was added gene: FAM20C was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: FAM20C was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | FAM126A |
Zornitza Stark gene: FAM126A was added gene: FAM126A was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: FAM126A was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | FAM111A |
Zornitza Stark gene: FAM111A was added gene: FAM111A was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: FAM111A was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | FAAH2 |
Zornitza Stark gene: FAAH2 was added gene: FAAH2 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: FAAH2 was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | FA2H |
Zornitza Stark gene: FA2H was added gene: FA2H was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: FA2H was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | EZH2 |
Zornitza Stark gene: EZH2 was added gene: EZH2 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: EZH2 was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | EXT2 |
Zornitza Stark gene: EXT2 was added gene: EXT2 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: EXT2 was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | EXOSC8 |
Zornitza Stark gene: EXOSC8 was added gene: EXOSC8 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: EXOSC8 was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | EXOSC3 |
Zornitza Stark gene: EXOSC3 was added gene: EXOSC3 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: EXOSC3 was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | EVC2 |
Zornitza Stark gene: EVC2 was added gene: EVC2 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: EVC2 was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | EVC |
Zornitza Stark gene: EVC was added gene: EVC was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: EVC was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | ESCO2 |
Zornitza Stark gene: ESCO2 was added gene: ESCO2 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: ESCO2 was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | ERMARD |
Zornitza Stark gene: ERMARD was added gene: ERMARD was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: ERMARD was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | ERLIN2 |
Zornitza Stark gene: ERLIN2 was added gene: ERLIN2 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: ERLIN2 was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | ERF |
Zornitza Stark gene: ERF was added gene: ERF was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: ERF was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | ERCC8 |
Zornitza Stark gene: ERCC8 was added gene: ERCC8 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: ERCC8 was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | ERCC6L2 |
Zornitza Stark gene: ERCC6L2 was added gene: ERCC6L2 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: ERCC6L2 was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | ERCC6 |
Zornitza Stark gene: ERCC6 was added gene: ERCC6 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: ERCC6 was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | ERCC5 |
Zornitza Stark gene: ERCC5 was added gene: ERCC5 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: ERCC5 was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | ERCC4 |
Zornitza Stark gene: ERCC4 was added gene: ERCC4 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: ERCC4 was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | ERCC3 |
Zornitza Stark gene: ERCC3 was added gene: ERCC3 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: ERCC3 was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | ERCC2 |
Zornitza Stark gene: ERCC2 was added gene: ERCC2 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: ERCC2 was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | ERCC1 |
Zornitza Stark gene: ERCC1 was added gene: ERCC1 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: ERCC1 was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | EPM2A |
Zornitza Stark gene: EPM2A was added gene: EPM2A was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: EPM2A was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | EPG5 |
Zornitza Stark gene: EPG5 was added gene: EPG5 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: EPG5 was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | EPB41L1 |
Zornitza Stark gene: EPB41L1 was added gene: EPB41L1 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: EPB41L1 was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | EOMES |
Zornitza Stark gene: EOMES was added gene: EOMES was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: EOMES was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | EOGT |
Zornitza Stark gene: EOGT was added gene: EOGT was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: EOGT was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | EMX2 |
Zornitza Stark gene: EMX2 was added gene: EMX2 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: EMX2 was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | ELOVL4 |
Zornitza Stark gene: ELOVL4 was added gene: ELOVL4 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: ELOVL4 was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | ELAC2 |
Zornitza Stark gene: ELAC2 was added gene: ELAC2 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: ELAC2 was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | EIF4A3 |
Zornitza Stark gene: EIF4A3 was added gene: EIF4A3 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: EIF4A3 was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | EIF2S3 |
Zornitza Stark gene: EIF2S3 was added gene: EIF2S3 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: EIF2S3 was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | EIF2B5 |
Zornitza Stark gene: EIF2B5 was added gene: EIF2B5 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: EIF2B5 was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | EIF2B4 |
Zornitza Stark gene: EIF2B4 was added gene: EIF2B4 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: EIF2B4 was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | EIF2B3 |
Zornitza Stark gene: EIF2B3 was added gene: EIF2B3 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: EIF2B3 was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | EIF2B2 |
Zornitza Stark gene: EIF2B2 was added gene: EIF2B2 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: EIF2B2 was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | EIF2B1 |
Zornitza Stark gene: EIF2B1 was added gene: EIF2B1 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: EIF2B1 was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | EIF2AK3 |
Zornitza Stark gene: EIF2AK3 was added gene: EIF2AK3 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: EIF2AK3 was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | EHMT1 |
Zornitza Stark gene: EHMT1 was added gene: EHMT1 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: EHMT1 was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | EFTUD2 |
Zornitza Stark gene: EFTUD2 was added gene: EFTUD2 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: EFTUD2 was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | EFNB1 |
Zornitza Stark gene: EFNB1 was added gene: EFNB1 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: EFNB1 was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | EEF1A2 |
Zornitza Stark gene: EEF1A2 was added gene: EEF1A2 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: EEF1A2 was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | EBP |
Zornitza Stark gene: EBP was added gene: EBP was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: EBP was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | EARS2 |
Zornitza Stark gene: EARS2 was added gene: EARS2 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: EARS2 was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | DYRK1A |
Zornitza Stark gene: DYRK1A was added gene: DYRK1A was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: DYRK1A was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | DYNC2H1 |
Zornitza Stark gene: DYNC2H1 was added gene: DYNC2H1 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: DYNC2H1 was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | DYNC1H1 |
Zornitza Stark gene: DYNC1H1 was added gene: DYNC1H1 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: DYNC1H1 was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | DYM |
Zornitza Stark gene: DYM was added gene: DYM was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: DYM was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | DUOXA2 |
Zornitza Stark gene: DUOXA2 was added gene: DUOXA2 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: DUOXA2 was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | DSE |
Zornitza Stark gene: DSE was added gene: DSE was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: DSE was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | DPYS |
Zornitza Stark gene: DPYS was added gene: DPYS was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: DPYS was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | DPYD |
Zornitza Stark gene: DPYD was added gene: DPYD was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: DPYD was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | DPP6 |
Zornitza Stark gene: DPP6 was added gene: DPP6 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: DPP6 was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | DPP10 |
Zornitza Stark gene: DPP10 was added gene: DPP10 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: DPP10 was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | DPM3 |
Zornitza Stark gene: DPM3 was added gene: DPM3 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: DPM3 was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | DPM1 |
Zornitza Stark gene: DPM1 was added gene: DPM1 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: DPM1 was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | DPH1 |
Zornitza Stark gene: DPH1 was added gene: DPH1 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: DPH1 was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | DPAGT1 |
Zornitza Stark gene: DPAGT1 was added gene: DPAGT1 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: DPAGT1 was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | DOK7 |
Zornitza Stark gene: DOK7 was added gene: DOK7 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: DOK7 was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | DOCK7 |
Zornitza Stark gene: DOCK7 was added gene: DOCK7 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: DOCK7 was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | DOCK6 |
Zornitza Stark gene: DOCK6 was added gene: DOCK6 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: DOCK6 was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | DOCK4 |
Zornitza Stark gene: DOCK4 was added gene: DOCK4 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: DOCK4 was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | DNMT3B |
Zornitza Stark gene: DNMT3B was added gene: DNMT3B was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: DNMT3B was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | DNMT3A |
Zornitza Stark gene: DNMT3A was added gene: DNMT3A was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: DNMT3A was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | DNM1L |
Zornitza Stark gene: DNM1L was added gene: DNM1L was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: DNM1L was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | DNAJC6 |
Zornitza Stark gene: DNAJC6 was added gene: DNAJC6 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: DNAJC6 was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | DNAJC19 |
Zornitza Stark gene: DNAJC19 was added gene: DNAJC19 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: DNAJC19 was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | DMPK |
Zornitza Stark gene: DMPK was added gene: DMPK was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: DMPK was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | DLK1 |
Zornitza Stark gene: DLK1 was added gene: DLK1 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: DLK1 was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | DLGAP2 |
Zornitza Stark gene: DLGAP2 was added gene: DLGAP2 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: DLGAP2 was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | DLG3 |
Zornitza Stark gene: DLG3 was added gene: DLG3 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: DLG3 was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | DLD |
Zornitza Stark gene: DLD was added gene: DLD was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: DLD was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | DLAT |
Zornitza Stark gene: DLAT was added gene: DLAT was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: DLAT was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | DKC1 |
Zornitza Stark gene: DKC1 was added gene: DKC1 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: DKC1 was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | DISP1 |
Zornitza Stark gene: DISP1 was added gene: DISP1 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: DISP1 was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | DIS3L2 |
Zornitza Stark gene: DIS3L2 was added gene: DIS3L2 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: DIS3L2 was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | DIP2B |
Zornitza Stark gene: DIP2B was added gene: DIP2B was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: DIP2B was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | DHTKD1 |
Zornitza Stark gene: DHTKD1 was added gene: DHTKD1 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: DHTKD1 was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | DHFR |
Zornitza Stark gene: DHFR was added gene: DHFR was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: DHFR was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | DHCR7 |
Zornitza Stark gene: DHCR7 was added gene: DHCR7 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: DHCR7 was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | DHCR24 |
Zornitza Stark gene: DHCR24 was added gene: DHCR24 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: DHCR24 was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | DEPDC5 |
Zornitza Stark gene: DEPDC5 was added gene: DEPDC5 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: DEPDC5 was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | DEAF1 |
Zornitza Stark gene: DEAF1 was added gene: DEAF1 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: DEAF1 was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | DDX59 |
Zornitza Stark gene: DDX59 was added gene: DDX59 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: DDX59 was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | DDX3X |
Zornitza Stark gene: DDX3X was added gene: DDX3X was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: DDX3X was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | DDX11 |
Zornitza Stark gene: DDX11 was added gene: DDX11 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: DDX11 was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | DDR2 |
Zornitza Stark gene: DDR2 was added gene: DDR2 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: DDR2 was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | DDOST |
Zornitza Stark gene: DDOST was added gene: DDOST was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: DDOST was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | DDHD2 |
Zornitza Stark gene: DDHD2 was added gene: DDHD2 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: DDHD2 was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | DDC |
Zornitza Stark gene: DDC was added gene: DDC was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: DDC was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | DCX |
Zornitza Stark gene: DCX was added gene: DCX was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: DCX was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | DCHS1 |
Zornitza Stark gene: DCHS1 was added gene: DCHS1 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: DCHS1 was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | DCAF17 |
Zornitza Stark gene: DCAF17 was added gene: DCAF17 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: DCAF17 was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | DBT |
Zornitza Stark gene: DBT was added gene: DBT was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: DBT was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | DARS2 |
Zornitza Stark gene: DARS2 was added gene: DARS2 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: DARS2 was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | DARS |
Zornitza Stark gene: DARS was added gene: DARS was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: DARS was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | DAG1 |
Zornitza Stark gene: DAG1 was added gene: DAG1 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: DAG1 was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | D2HGDH |
Zornitza Stark gene: D2HGDH was added gene: D2HGDH was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: D2HGDH was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | CYP2U1 |
Zornitza Stark gene: CYP2U1 was added gene: CYP2U1 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: CYP2U1 was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | CYP27A1 |
Zornitza Stark gene: CYP27A1 was added gene: CYP27A1 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: CYP27A1 was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | CYFIP1 |
Zornitza Stark gene: CYFIP1 was added gene: CYFIP1 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: CYFIP1 was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | CYC1 |
Zornitza Stark gene: CYC1 was added gene: CYC1 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: CYC1 was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | CYB5R3 |
Zornitza Stark gene: CYB5R3 was added gene: CYB5R3 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: CYB5R3 was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | CUL4B |
Zornitza Stark gene: CUL4B was added gene: CUL4B was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: CUL4B was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | CUBN |
Zornitza Stark gene: CUBN was added gene: CUBN was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: CUBN was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | CTSF |
Zornitza Stark gene: CTSF was added gene: CTSF was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: CTSF was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | CTSD |
Zornitza Stark gene: CTSD was added gene: CTSD was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: CTSD was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | CTSA |
Zornitza Stark gene: CTSA was added gene: CTSA was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: CTSA was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | CTNND2 |
Zornitza Stark gene: CTNND2 was added gene: CTNND2 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: CTNND2 was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | CTNNB1 |
Zornitza Stark gene: CTNNB1 was added gene: CTNNB1 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: CTNNB1 was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | CTDP1 |
Zornitza Stark gene: CTDP1 was added gene: CTDP1 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: CTDP1 was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | CTCF |
Zornitza Stark gene: CTCF was added gene: CTCF was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: CTCF was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | CTC1 |
Zornitza Stark gene: CTC1 was added gene: CTC1 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: CTC1 was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | CSTB |
Zornitza Stark gene: CSTB was added gene: CSTB was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: CSTB was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | CSPP1 |
Zornitza Stark gene: CSPP1 was added gene: CSPP1 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: CSPP1 was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | CRTAP |
Zornitza Stark gene: CRTAP was added gene: CRTAP was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: CRTAP was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | CRLF1 |
Zornitza Stark gene: CRLF1 was added gene: CRLF1 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: CRLF1 was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | CRKL |
Zornitza Stark gene: CRKL was added gene: CRKL was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: CRKL was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | CREBBP |
Zornitza Stark gene: CREBBP was added gene: CREBBP was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: CREBBP was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | CRBN |
Zornitza Stark gene: CRBN was added gene: CRBN was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: CRBN was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | CRADD |
Zornitza Stark gene: CRADD was added gene: CRADD was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: CRADD was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | CPS1 |
Zornitza Stark gene: CPS1 was added gene: CPS1 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: CPS1 was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | CPA6 |
Zornitza Stark gene: CPA6 was added gene: CPA6 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: CPA6 was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | COX7B |
Zornitza Stark gene: COX7B was added gene: COX7B was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: COX7B was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | COX6B1 |
Zornitza Stark gene: COX6B1 was added gene: COX6B1 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: COX6B1 was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | COX4I2 |
Zornitza Stark gene: COX4I2 was added gene: COX4I2 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: COX4I2 was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | COX20 |
Zornitza Stark gene: COX20 was added gene: COX20 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: COX20 was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | COX15 |
Zornitza Stark gene: COX15 was added gene: COX15 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: COX15 was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | COX14 |
Zornitza Stark gene: COX14 was added gene: COX14 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: COX14 was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | COX10 |
Zornitza Stark gene: COX10 was added gene: COX10 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: COX10 was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | CORO1A |
Zornitza Stark gene: CORO1A was added gene: CORO1A was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: CORO1A was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | COQ9 |
Zornitza Stark gene: COQ9 was added gene: COQ9 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: COQ9 was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | COQ2 |
Zornitza Stark gene: COQ2 was added gene: COQ2 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: COQ2 was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | COLEC11 |
Zornitza Stark gene: COLEC11 was added gene: COLEC11 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: COLEC11 was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | COL4A3BP |
Zornitza Stark gene: COL4A3BP was added gene: COL4A3BP was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: COL4A3BP was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | COL4A2 |
Zornitza Stark gene: COL4A2 was added gene: COL4A2 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: COL4A2 was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | COL4A1 |
Zornitza Stark gene: COL4A1 was added gene: COL4A1 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: COL4A1 was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | COL1A2 |
Zornitza Stark gene: COL1A2 was added gene: COL1A2 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: COL1A2 was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | COL18A1 |
Zornitza Stark gene: COL18A1 was added gene: COL18A1 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: COL18A1 was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | COG8 |
Zornitza Stark gene: COG8 was added gene: COG8 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: COG8 was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | COG7 |
Zornitza Stark gene: COG7 was added gene: COG7 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: COG7 was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | COG6 |
Zornitza Stark gene: COG6 was added gene: COG6 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: COG6 was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | COG5 |
Zornitza Stark gene: COG5 was added gene: COG5 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: COG5 was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | COG4 |
Zornitza Stark gene: COG4 was added gene: COG4 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: COG4 was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | COG1 |
Zornitza Stark gene: COG1 was added gene: COG1 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: COG1 was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | COASY |
Zornitza Stark gene: COASY was added gene: COASY was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: COASY was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | CNTNAP5 |
Zornitza Stark gene: CNTNAP5 was added gene: CNTNAP5 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: CNTNAP5 was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | CNTNAP2 |
Zornitza Stark gene: CNTNAP2 was added gene: CNTNAP2 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: CNTNAP2 was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | CNTN4 |
Zornitza Stark gene: CNTN4 was added gene: CNTN4 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: CNTN4 was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | CNNM2 |
Zornitza Stark gene: CNNM2 was added gene: CNNM2 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: CNNM2 was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | CNKSR2 |
Zornitza Stark gene: CNKSR2 was added gene: CNKSR2 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: CNKSR2 was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | CLN8 |
Zornitza Stark gene: CLN8 was added gene: CLN8 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: CLN8 was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | CLN6 |
Zornitza Stark gene: CLN6 was added gene: CLN6 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: CLN6 was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | CLN5 |
Zornitza Stark gene: CLN5 was added gene: CLN5 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: CLN5 was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | CLN3 |
Zornitza Stark gene: CLN3 was added gene: CLN3 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: CLN3 was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | CLIP2 |
Zornitza Stark gene: CLIP2 was added gene: CLIP2 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: CLIP2 was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | CLIC2 |
Zornitza Stark gene: CLIC2 was added gene: CLIC2 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: CLIC2 was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | CLCNKB |
Zornitza Stark gene: CLCNKB was added gene: CLCNKB was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: CLCNKB was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | CLCNKA |
Zornitza Stark gene: CLCNKA was added gene: CLCNKA was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: CLCNKA was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | CLCN4 |
Zornitza Stark gene: CLCN4 was added gene: CLCN4 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: CLCN4 was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | CLCN2 |
Zornitza Stark gene: CLCN2 was added gene: CLCN2 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: CLCN2 was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | CHST14 |
Zornitza Stark gene: CHST14 was added gene: CHST14 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: CHST14 was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | CHRNA4 |
Zornitza Stark gene: CHRNA4 was added gene: CHRNA4 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: CHRNA4 was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | CHMP1A |
Zornitza Stark gene: CHMP1A was added gene: CHMP1A was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: CHMP1A was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | CHKB |
Zornitza Stark gene: CHKB was added gene: CHKB was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: CHKB was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | CHD8 |
Zornitza Stark gene: CHD8 was added gene: CHD8 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: CHD8 was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | CHD7 |
Zornitza Stark gene: CHD7 was added gene: CHD7 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: CHD7 was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | CHD2 |
Zornitza Stark gene: CHD2 was added gene: CHD2 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: CHD2 was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | CHAMP1 |
Zornitza Stark gene: CHAMP1 was added gene: CHAMP1 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: CHAMP1 was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | CFHR3 |
Zornitza Stark gene: CFHR3 was added gene: CFHR3 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: CFHR3 was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | CFHR1 |
Zornitza Stark gene: CFHR1 was added gene: CFHR1 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: CFHR1 was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | CFH |
Zornitza Stark gene: CFH was added gene: CFH was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: CFH was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | CEP89 |
Zornitza Stark gene: CEP89 was added gene: CEP89 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: CEP89 was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | CEP63 |
Zornitza Stark gene: CEP63 was added gene: CEP63 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: CEP63 was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | CEP57 |
Zornitza Stark gene: CEP57 was added gene: CEP57 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: CEP57 was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | CEP41 |
Zornitza Stark gene: CEP41 was added gene: CEP41 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: CEP41 was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | CEP290 |
Zornitza Stark gene: CEP290 was added gene: CEP290 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: CEP290 was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | CEP152 |
Zornitza Stark gene: CEP152 was added gene: CEP152 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: CEP152 was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | CEP135 |
Zornitza Stark gene: CEP135 was added gene: CEP135 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: CEP135 was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | CENPJ |
Zornitza Stark gene: CENPJ was added gene: CENPJ was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: CENPJ was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | ADA2 |
Zornitza Stark gene: ADA2 was added gene: ADA2 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: ADA2 was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | CDON |
Zornitza Stark gene: CDON was added gene: CDON was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: CDON was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | CDKN1C |
Zornitza Stark gene: CDKN1C was added gene: CDKN1C was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: CDKN1C was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | CDKL5 |
Zornitza Stark gene: CDKL5 was added gene: CDKL5 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: CDKL5 was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | CDK6 |
Zornitza Stark gene: CDK6 was added gene: CDK6 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: CDK6 was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | CDK5RAP2 |
Zornitza Stark gene: CDK5RAP2 was added gene: CDK5RAP2 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: CDK5RAP2 was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | CDK16 |
Zornitza Stark gene: CDK16 was added gene: CDK16 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: CDK16 was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | CDH15 |
Zornitza Stark gene: CDH15 was added gene: CDH15 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: CDH15 was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | CDC6 |
Zornitza Stark gene: CDC6 was added gene: CDC6 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: CDC6 was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | CDC42 |
Zornitza Stark gene: CDC42 was added gene: CDC42 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: CDC42 was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | CD96 |
Zornitza Stark gene: CD96 was added gene: CD96 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: CD96 was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | CCND2 |
Zornitza Stark gene: CCND2 was added gene: CCND2 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: CCND2 was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | CCDC88C |
Zornitza Stark gene: CCDC88C was added gene: CCDC88C was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: CCDC88C was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | CCDC78 |
Zornitza Stark gene: CCDC78 was added gene: CCDC78 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: CCDC78 was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | CCDC22 |
Zornitza Stark gene: CCDC22 was added gene: CCDC22 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: CCDC22 was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | CCBE1 |
Zornitza Stark gene: CCBE1 was added gene: CCBE1 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: CCBE1 was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | CC2D2A |
Zornitza Stark gene: CC2D2A was added gene: CC2D2A was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: CC2D2A was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | CC2D1A |
Zornitza Stark gene: CC2D1A was added gene: CC2D1A was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: CC2D1A was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | CBS |
Zornitza Stark gene: CBS was added gene: CBS was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: CBS was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | CBL |
Zornitza Stark gene: CBL was added gene: CBL was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: CBL was set to Unknown |
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