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Mendeliome v0.11040 C17orf53 Zornitza Stark gene: C17orf53 was added
gene: C17orf53 was added to Mendeliome. Sources: Expert Review
Mode of inheritance for gene: C17orf53 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: C17orf53 were set to 34707299; 31467087
Phenotypes for gene: C17orf53 were set to Primary ovarian insufficiency
Review for gene: C17orf53 was set to AMBER
Added comment: PMID: 34707299. Homozygous LOF variant in individual with primary ovarian insufficiency PMID: 31467087. Mice with targeted mutations in Hrob are infertile due to depletion of germ cells.
Sources: Expert Review
Mendeliome v0.11039 TFAM Zornitza Stark Phenotypes for gene: TFAM were changed from Mitochondrial DNA depletion syndrome 15 (hepatocerebral type) MIM#617156 to Mitochondrial DNA depletion syndrome 15 (hepatocerebral type) MIM#617156; Perrault syndrome
Mendeliome v0.11038 TFAM Zornitza Stark Publications for gene: TFAM were set to 27448789; 29021295; 9500544
Mendeliome v0.11037 TFAM Zornitza Stark Classified gene: TFAM as Green List (high evidence)
Mendeliome v0.11037 TFAM Zornitza Stark Gene: tfam has been classified as Green List (High Evidence).
Mendeliome v0.11036 TFAM Zornitza Stark edited their review of gene: TFAM: Added comment: PMID: 32399598. Homozygous missense variant predicted pathogenic in patient presenting with Perrault syndrome and intellectual disability

PMID: 34647195. Same homozygous missense variant in two sisters with premature ovarian insufficiency +/- seizures and their brother with seizures + intellectual disability. Patient fibroblasts have mtDNA depletion

PMID: 34647195. Zebrafish model with in-frame deletion has ovarian dysgenesis and mtDNA depletion; Changed rating: GREEN; Changed publications: 27448789, 29021295, 9500544, 32399598, 34647195, 34647195; Changed phenotypes: Mitochondrial DNA depletion syndrome 15 (hepatocerebral type) MIM#617156, Perrault syndrome
Mendeliome v0.11036 SPATA16 Zornitza Stark Marked gene: SPATA16 as ready
Mendeliome v0.11036 SPATA16 Zornitza Stark Gene: spata16 has been classified as Amber List (Moderate Evidence).
Mendeliome v0.11036 SPATA16 Zornitza Stark Phenotypes for gene: SPATA16 were changed from to Spermatogenic failure 6 MIM#102530; Spermatogenic failure 6 MONDO:0007060
Mendeliome v0.11035 SPATA16 Zornitza Stark Publications for gene: SPATA16 were set to
Mendeliome v0.11034 SPATA16 Zornitza Stark Mode of inheritance for gene: SPATA16 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.11033 SPATA16 Zornitza Stark Classified gene: SPATA16 as Amber List (moderate evidence)
Mendeliome v0.11033 SPATA16 Zornitza Stark Gene: spata16 has been classified as Amber List (Moderate Evidence).
Mendeliome v0.11032 TNFRSF10B Zornitza Stark Marked gene: TNFRSF10B as ready
Mendeliome v0.11032 TNFRSF10B Zornitza Stark Gene: tnfrsf10b has been classified as Red List (Low Evidence).
Mendeliome v0.11032 TNFRSF10B Zornitza Stark Phenotypes for gene: TNFRSF10B were changed from to Squamous cell carcinoma, head and neck MIM#275355
Mendeliome v0.11031 TNFRSF10B Zornitza Stark Publications for gene: TNFRSF10B were set to
Mendeliome v0.11030 TNFRSF10B Zornitza Stark Mode of inheritance for gene: TNFRSF10B was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.11029 TNFRSF10B Zornitza Stark Classified gene: TNFRSF10B as Red List (low evidence)
Mendeliome v0.11029 TNFRSF10B Zornitza Stark Gene: tnfrsf10b has been classified as Red List (Low Evidence).
Mendeliome v0.11028 MAPK8IP1 Zornitza Stark Marked gene: MAPK8IP1 as ready
Mendeliome v0.11028 MAPK8IP1 Zornitza Stark Gene: mapk8ip1 has been classified as Red List (Low Evidence).
Mendeliome v0.11028 MAPK8IP1 Zornitza Stark Phenotypes for gene: MAPK8IP1 were changed from to Susceptibility to diabetes mellitus, noninsulin-dependent MIM#125853
Mendeliome v0.11027 MAPK8IP1 Zornitza Stark Publications for gene: MAPK8IP1 were set to
Mendeliome v0.11026 MAPK8IP1 Zornitza Stark Mode of inheritance for gene: MAPK8IP1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.11025 MAPK8IP1 Zornitza Stark Classified gene: MAPK8IP1 as Red List (low evidence)
Mendeliome v0.11025 MAPK8IP1 Zornitza Stark Gene: mapk8ip1 has been classified as Red List (Low Evidence).
Mendeliome v0.11024 SMIM1 Zornitza Stark Marked gene: SMIM1 as ready
Mendeliome v0.11024 SMIM1 Zornitza Stark Gene: smim1 has been classified as Red List (Low Evidence).
Mendeliome v0.11024 SMIM1 Zornitza Stark Phenotypes for gene: SMIM1 were changed from to Blood group, Vel system MIM#615264
Mendeliome v0.11023 SMIM1 Zornitza Stark Classified gene: SMIM1 as Red List (low evidence)
Mendeliome v0.11023 SMIM1 Zornitza Stark Gene: smim1 has been classified as Red List (Low Evidence).
Mendeliome v0.11022 ACKR1 Zornitza Stark Marked gene: ACKR1 as ready
Mendeliome v0.11022 ACKR1 Zornitza Stark Gene: ackr1 has been classified as Red List (Low Evidence).
Mendeliome v0.11022 ACKR1 Zornitza Stark Phenotypes for gene: ACKR1 were changed from to Blood group, Duffy system MIM#110700
Mendeliome v0.11021 ACKR1 Zornitza Stark Classified gene: ACKR1 as Red List (low evidence)
Mendeliome v0.11021 ACKR1 Zornitza Stark Gene: ackr1 has been classified as Red List (Low Evidence).
Mendeliome v0.11020 OGG1 Zornitza Stark Marked gene: OGG1 as ready
Mendeliome v0.11020 OGG1 Zornitza Stark Gene: ogg1 has been classified as Red List (Low Evidence).
Mendeliome v0.11020 OGG1 Zornitza Stark Phenotypes for gene: OGG1 were changed from to Renal cell carcinoma, clear cell, somatic MIM#144700
Mendeliome v0.11019 OGG1 Zornitza Stark Publications for gene: OGG1 were set to
Mendeliome v0.11018 OGG1 Zornitza Stark Mode of inheritance for gene: OGG1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.11017 OGG1 Zornitza Stark Classified gene: OGG1 as Red List (low evidence)
Mendeliome v0.11017 OGG1 Zornitza Stark Gene: ogg1 has been classified as Red List (Low Evidence).
Mendeliome v0.11016 B3GALNT1 Zornitza Stark Marked gene: B3GALNT1 as ready
Mendeliome v0.11016 B3GALNT1 Zornitza Stark Gene: b3galnt1 has been classified as Red List (Low Evidence).
Mendeliome v0.11016 B3GALNT1 Zornitza Stark Phenotypes for gene: B3GALNT1 were changed from to Blood group, globoside system MIM#615021
Mendeliome v0.11015 B3GALNT1 Zornitza Stark Classified gene: B3GALNT1 as Red List (low evidence)
Mendeliome v0.11015 B3GALNT1 Zornitza Stark Gene: b3galnt1 has been classified as Red List (Low Evidence).
Mendeliome v0.11014 SERPINA7 Zornitza Stark Marked gene: SERPINA7 as ready
Mendeliome v0.11014 SERPINA7 Zornitza Stark Gene: serpina7 has been classified as Green List (High Evidence).
Mendeliome v0.11014 SERPINA7 Zornitza Stark Phenotypes for gene: SERPINA7 were changed from to Thyroxine-binding globulin QTL MIM#300932; Thyroxine-binding globulin deficiency
Mendeliome v0.11013 SERPINA7 Zornitza Stark Publications for gene: SERPINA7 were set to
Mendeliome v0.11012 SERPINA7 Zornitza Stark Mode of inheritance for gene: SERPINA7 was changed from Unknown to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Mendeliome v0.11011 TBC1D24 Ain Roesley reviewed gene: TBC1D24: Rating: GREEN; Mode of pathogenicity: None; Publications: 25719194; Phenotypes: Deafness, autosomal dominant 65 MIM#616044, Deafness, autosomal recessive 86 MIM#614617, Developmental and epileptic encephalopathy 16 MIM#615338, DOORS syndrome MIM#220500, Epilepsy, rolandic, with proxysmal exercise-induce dystonia and writer's cramp MIM#608105, Myoclonic epilepsy, infantile, familial MIM#605021; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal; Current diagnostic: yes
Mendeliome v0.11011 SUCLG1 Ain Roesley reviewed gene: SUCLG1: Rating: GREEN; Mode of pathogenicity: None; Publications: 33230783, 28358460; Phenotypes: Mitochondrial DNA depletion syndrome 9 (encephalomyopathic type with methylmalonic aciduria) MIM#245400; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Mendeliome v0.11011 RUNX2 Ain Roesley reviewed gene: RUNX2: Rating: GREEN; Mode of pathogenicity: None; Publications: 20301686; Phenotypes: Cleidocranial dysplasia MIM#119600, Cleidocranial dysplasia, forme fruste, dental anomalies only MIM#119600, Cleidocranial dysplasia, forme fruste, with brachydactyly MIM#119600, Metaphyseal dysplasia with maxillary hypoplasia with or without brachydactyly MIM#156510; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes
Mendeliome v0.11011 RRM2B Ain Roesley reviewed gene: RRM2B: Rating: GREEN; Mode of pathogenicity: None; Publications: 24741716; Phenotypes: Mitochondrial DNA depletion syndrome 8A (encephalomyopathic type with renal tubulopathy) MIM#612075, Mitochondrial DNA depletion syndrome 8B (MNGIE type) MIM#612075; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Mendeliome v0.11011 RNASET2 Ain Roesley reviewed gene: RNASET2: Rating: GREEN; Mode of pathogenicity: None; Publications: 31349848, 19525954, 27091087, 29336640, 18545798, 15851732; Phenotypes: Leukoencephalopathy, cystic, without megalencephaly MIM#612951; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Mendeliome v0.11011 DLC1 Bryony Thompson Marked gene: DLC1 as ready
Mendeliome v0.11011 DLC1 Bryony Thompson Gene: dlc1 has been classified as Green List (High Evidence).
Mendeliome v0.11011 DLC1 Bryony Thompson Classified gene: DLC1 as Green List (high evidence)
Mendeliome v0.11011 DLC1 Bryony Thompson Gene: dlc1 has been classified as Green List (High Evidence).
Mendeliome v0.11010 DLC1 Bryony Thompson gene: DLC1 was added
gene: DLC1 was added to Mendeliome. Sources: Expert list
Mode of inheritance for gene: DLC1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: DLC1 were set to 29773874
Phenotypes for gene: DLC1 were set to Nephrotic syndrome MONDO:0005377
Review for gene: DLC1 was set to GREEN
Added comment: Biallelic variants in 4 families, and knockdown of DLC1 in cultured podocytes reduces migration rate and treatment with dexamethasone abolishes RhoA activation.
Sources: Expert list
Mendeliome v0.11009 RNASEH2A Ain Roesley reviewed gene: RNASEH2A: Rating: GREEN; Mode of pathogenicity: None; Publications: 15870678, 25604658, 23592335, 20301648; Phenotypes: Aicardi-Goutieres syndrome 4 MIM#610333; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Mendeliome v0.11009 IL6ST Zornitza Stark Phenotypes for gene: IL6ST were changed from Hyper-IgE recurrent infection syndrome 4, autosomal recessive, MIM# 618523; Stuve-Wiedemann-like syndrome: skeletal dysplasia, neonatal lung dysfunction, thrombocytopenia, dermatitis, defective acute-phase response; Hyper-IgE syndrome, autosomal dominant to Hyper-IgE recurrent infection syndrome 4, autosomal recessive, MIM# 618523; Stuve-Wiedemann syndrome 2, MIM# 619751: skeletal dysplasia, neonatal lung dysfunction, thrombocytopenia, dermatitis, defective acute-phase response; Hyper-IgE syndrome, autosomal dominant
Mendeliome v0.11008 IL6ST Zornitza Stark edited their review of gene: IL6ST: Changed phenotypes: Hyper-IgE recurrent infection syndrome 4, autosomal recessive, MIM# 618523, Stuve-Wiedemann syndrome 2, MIM# 619751: skeletal dysplasia, neonatal lung dysfunction, thrombocytopenia, dermatitis, defective acute-phase response, Hyper-IgE syndrome, autosomal dominant
Mendeliome v0.11008 WARS2 Zornitza Stark Marked gene: WARS2 as ready
Mendeliome v0.11008 WARS2 Zornitza Stark Gene: wars2 has been classified as Green List (High Evidence).
Mendeliome v0.11008 WARS2 Zornitza Stark Phenotypes for gene: WARS2 were changed from to Parkinsonism-dystonia 3, childhood-onset, MIM# 619738; Neurodevelopmental disorder, mitochondrial, with abnormal movements and lactic acidosis, with or without seizures, MIM# 617710
Mendeliome v0.11007 WARS2 Zornitza Stark Publications for gene: WARS2 were set to
Mendeliome v0.11006 WARS2 Zornitza Stark Mode of inheritance for gene: WARS2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.11005 WARS2 Zornitza Stark reviewed gene: WARS2: Rating: GREEN; Mode of pathogenicity: None; Publications: 29120065, 31970218, 34890876, 28236339, 28650581, 28905505, 30920170; Phenotypes: Parkinsonism-dystonia 3, childhood-onset, MIM# 619738, Neurodevelopmental disorder, mitochondrial, with abnormal movements and lactic acidosis, with or without seizures, MIM# 617710; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.11005 NHLH2 Zornitza Stark Marked gene: NHLH2 as ready
Mendeliome v0.11005 NHLH2 Zornitza Stark Gene: nhlh2 has been classified as Red List (Low Evidence).
Mendeliome v0.11005 NHLH2 Zornitza Stark gene: NHLH2 was added
gene: NHLH2 was added to Mendeliome. Sources: Literature
Mode of inheritance for gene: NHLH2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: NHLH2 were set to 35066646
Phenotypes for gene: NHLH2 were set to Hypogonadotropic hypogonadism 27 without anosmia , MIM# 619755
Review for gene: NHLH2 was set to RED
Added comment: Single individual reported homozygous for a missense variant in this gene. Two other individuals heterozygous for missense variants identified as part of this cohort; however, had alternative diagnoses.
Sources: Literature
Mendeliome v0.11004 SPATA16 Paul De Fazio reviewed gene: SPATA16: Rating: AMBER; Mode of pathogenicity: None; Publications: 17847006, 27086357, 29065458; Phenotypes: ?Spermatogenic failure 6 MIM#102530, Spermatogenic failure 6 MONDO:0007060; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Mendeliome v0.11004 TNFRSF10B Paul De Fazio reviewed gene: TNFRSF10B: Rating: RED; Mode of pathogenicity: None; Publications: 9721851; Phenotypes: Squamous cell carcinoma, head and neck MIM#275355; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Mendeliome v0.11004 MAPK8IP1 Paul De Fazio reviewed gene: MAPK8IP1: Rating: RED; Mode of pathogenicity: None; Publications: 10700186; Phenotypes: Susceptibility to diabetes mellitus, noninsulin-dependent MIM#125853; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown; Current diagnostic: yes
Mendeliome v0.11004 SMIM1 Paul De Fazio reviewed gene: SMIM1: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Blood group, Vel system MIM#615264; Mode of inheritance: Unknown; Current diagnostic: yes
Mendeliome v0.11004 ACKR1 Paul De Fazio reviewed gene: ACKR1: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Blood group, Duffy system MIM#110700; Mode of inheritance: Unknown; Current diagnostic: yes
Mendeliome v0.11004 OGG1 Paul De Fazio reviewed gene: OGG1: Rating: RED; Mode of pathogenicity: None; Publications: 10987279, 29305130; Phenotypes: Renal cell carcinoma, clear cell, somatic MIM#144700; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown; Current diagnostic: yes
Mendeliome v0.11004 B3GALNT1 Paul De Fazio reviewed gene: B3GALNT1: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Blood group, globoside system MIM#615021; Mode of inheritance: Unknown; Current diagnostic: yes
Mendeliome v0.11004 SERPINA7 Paul De Fazio reviewed gene: SERPINA7: Rating: GREEN; Mode of pathogenicity: None; Publications: 34126618, 32266677, 17887925, 28553659, 29733970, 16947003; Phenotypes: Thyroxine-binding globulin QTL MIM#300932, Thyroxine-binding globulin deficiency; Mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males); Current diagnostic: yes
Mendeliome v0.11004 Zornitza Stark removed gene:TBK1 from the panel
Mendeliome v0.11003 NDUFA11 Zornitza Stark Marked gene: NDUFA11 as ready
Mendeliome v0.11003 NDUFA11 Zornitza Stark Gene: ndufa11 has been classified as Amber List (Moderate Evidence).
Mendeliome v0.11003 NDUFA11 Zornitza Stark Phenotypes for gene: NDUFA11 were changed from to Mitochondrial complex I deficiency, nuclear type 14, MIM#618236
Mendeliome v0.11002 NDUFA11 Zornitza Stark Publications for gene: NDUFA11 were set to
Mendeliome v0.11001 NDUFA11 Zornitza Stark Mode of inheritance for gene: NDUFA11 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.11000 NDUFA11 Zornitza Stark Classified gene: NDUFA11 as Amber List (moderate evidence)
Mendeliome v0.11000 NDUFA11 Zornitza Stark Gene: ndufa11 has been classified as Amber List (Moderate Evidence).
Mendeliome v0.10999 NDUFA11 Zornitza Stark reviewed gene: NDUFA11: Rating: AMBER; Mode of pathogenicity: None; Publications: 18306244, 31074871; Phenotypes: Mitochondrial complex I deficiency, nuclear type 14, MIM#618236; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.10999 TBK1 Chern Lim reviewed gene: TBK1: Rating: RED; Mode of pathogenicity: None; Publications: 25803835, 26581300; Phenotypes: Frontotemporal dementia and/or amyotrophic lateral sclerosis 4 (MIM#616439), AD; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes
Mendeliome v0.10999 RIN2 Zornitza Stark Marked gene: RIN2 as ready
Mendeliome v0.10999 RIN2 Zornitza Stark Gene: rin2 has been classified as Green List (High Evidence).
Mendeliome v0.10999 RIN2 Zornitza Stark Phenotypes for gene: RIN2 were changed from to Macrocephaly, alopecia, cutis laxa, and scoliosis, MIM#613075
Mendeliome v0.10998 RIN2 Zornitza Stark Publications for gene: RIN2 were set to
Mendeliome v0.10997 RIN2 Zornitza Stark Mode of inheritance for gene: RIN2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.10996 RIN2 Zornitza Stark reviewed gene: RIN2: Rating: GREEN; Mode of pathogenicity: None; Publications: 19631308, 20424861, 20954239, 24449201, 30769224; Phenotypes: Macrocephaly, alopecia, cutis laxa, and scoliosis, MIM#613075; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.10996 DLD Zornitza Stark Marked gene: DLD as ready
Mendeliome v0.10996 DLD Zornitza Stark Gene: dld has been classified as Green List (High Evidence).
Mendeliome v0.10996 DLD Zornitza Stark Phenotypes for gene: DLD were changed from to Dihydrolipoamide dehydrogenase deficiency MIM#246900
Mendeliome v0.10995 DLD Zornitza Stark Publications for gene: DLD were set to
Mendeliome v0.10994 DLD Zornitza Stark Mode of inheritance for gene: DLD was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.10993 KIAA0391 Zornitza Stark Tag new gene name tag was added to gene: KIAA0391.
Mendeliome v0.10993 KIAA0391 Zornitza Stark changed review comment from: Comment when marking as ready: Note gene is referred to as PRORP in the manuscript, but HGNC approved name is KIAA0391.; to: HGNC approved name is now PRORP.
Mendeliome v0.10993 KIAA0391 Zornitza Stark Phenotypes for gene: KIAA0391 were changed from Mitochondrial disorder to Combined oxidative phosphorylation deficiency 54, MIM# 619737
Mendeliome v0.10992 DLD Belinda Chong reviewed gene: DLD: Rating: GREEN; Mode of pathogenicity: None; Publications: 3769994, 8506365, 9934985, 17404228, 21558426, 21930696; Phenotypes: Dihydrolipoamide dehydrogenase deficiency MIM#246900; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Mendeliome v0.10992 POLR3B Zornitza Stark Phenotypes for gene: POLR3B were changed from Ataxia, spasticity, and demyelinating neuropathy; Leukodystrophy, hypomyelinating, 8, with or without oligodontia and/or hypogonadotropic hypogonadism MIM#614381 to Charcot-Marie-Tooth disease, demyelinating, type 1I, MIM# 619742; Leukodystrophy, hypomyelinating, 8, with or without oligodontia and/or hypogonadotropic hypogonadism, MIM# 614381
Mendeliome v0.10991 POLR3B Zornitza Stark edited their review of gene: POLR3B: Changed phenotypes: Charcot-Marie-Tooth disease, demyelinating, type 1I, MIM# 619742, Leukodystrophy, hypomyelinating, 8, with or without oligodontia and/or hypogonadotropic hypogonadism, MIM# 614381; Changed mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Mendeliome v0.10991 TBX15 Zornitza Stark Marked gene: TBX15 as ready
Mendeliome v0.10991 TBX15 Zornitza Stark Gene: tbx15 has been classified as Green List (High Evidence).
Mendeliome v0.10991 TBX15 Zornitza Stark Phenotypes for gene: TBX15 were changed from to Cousin syndrome, MIM# 260660
Mendeliome v0.10990 TBX15 Zornitza Stark Publications for gene: TBX15 were set to
Mendeliome v0.10989 TBX15 Zornitza Stark Mode of inheritance for gene: TBX15 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.10988 TBX15 Zornitza Stark reviewed gene: TBX15: Rating: GREEN; Mode of pathogenicity: None; Publications: 19068278, 24039145; Phenotypes: Cousin syndrome, MIM# 260660; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.10988 TBX18 Zornitza Stark Marked gene: TBX18 as ready
Mendeliome v0.10988 TBX18 Zornitza Stark Gene: tbx18 has been classified as Green List (High Evidence).
Mendeliome v0.10988 TBX18 Zornitza Stark Phenotypes for gene: TBX18 were changed from to Congenital anomalies of kidney and urinary tract 2, MIM# 143400
Mendeliome v0.10987 TBX18 Zornitza Stark Publications for gene: TBX18 were set to
Mendeliome v0.10986 TBX18 Zornitza Stark Mode of inheritance for gene: TBX18 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.10985 TBX18 Zornitza Stark reviewed gene: TBX18: Rating: GREEN; Mode of pathogenicity: None; Publications: 26235987; Phenotypes: Congenital anomalies of kidney and urinary tract 2, MIM# 143400; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.10985 TBX4 Zornitza Stark Phenotypes for gene: TBX4 were changed from Posterior amelia with pelvis and pulmonary hypoplasia; small patella syndrome to Amelia, posterior, with pelvic and pulmonary hypoplasia syndrome, MIM# 601360; Ischiocoxopodopatellar syndrome with or without pulmonary arterial hypertension, MIM# 147891
Mendeliome v0.10984 TBX4 Zornitza Stark Mode of inheritance for gene: TBX4 was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Mendeliome v0.10983 TBX4 Zornitza Stark edited their review of gene: TBX4: Changed mode of inheritance: BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Mendeliome v0.10983 TGDS Zornitza Stark Marked gene: TGDS as ready
Mendeliome v0.10983 TGDS Zornitza Stark Gene: tgds has been classified as Green List (High Evidence).
Mendeliome v0.10983 TGDS Zornitza Stark Phenotypes for gene: TGDS were changed from to Catel-Manzke syndrome, MIM# 616145
Mendeliome v0.10982 TGDS Zornitza Stark Publications for gene: TGDS were set to
Mendeliome v0.10981 TGDS Zornitza Stark Mode of inheritance for gene: TGDS was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.10980 TGDS Zornitza Stark reviewed gene: TGDS: Rating: GREEN; Mode of pathogenicity: None; Publications: 25480037; Phenotypes: Catel-Manzke syndrome, MIM# 616145; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.10980 THOC6 Zornitza Stark Marked gene: THOC6 as ready
Mendeliome v0.10980 THOC6 Zornitza Stark Gene: thoc6 has been classified as Green List (High Evidence).
Mendeliome v0.10980 THOC6 Zornitza Stark Phenotypes for gene: THOC6 were changed from to Beaulieu-Boycott-Innes syndrome, MIM# 613680
Mendeliome v0.10979 THOC6 Zornitza Stark Publications for gene: THOC6 were set to
Mendeliome v0.10978 THOC6 Zornitza Stark Mode of inheritance for gene: THOC6 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.10977 THOC6 Zornitza Stark reviewed gene: THOC6: Rating: GREEN; Mode of pathogenicity: None; Publications: 23621916, 26739162, 27102954, 30238602, 30476144; Phenotypes: Beaulieu-Boycott-Innes syndrome, MIM# 613680; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.10977 DRC1 Zornitza Stark Phenotypes for gene: DRC1 were changed from Ciliary dyskinesia, primary, 21, MIM# 615294 to Ciliary dyskinesia, primary, 21, MIM# 615294; Male infertility
Mendeliome v0.10976 DRC1 Zornitza Stark Publications for gene: DRC1 were set to 31960620
Mendeliome v0.10975 DRC1 Zornitza Stark edited their review of gene: DRC1: Added comment: PMID 34169321: two individuals reported with homozygous variants and morphological abnormalities of sperm/male infertility.; Changed publications: 31960620, 34169321; Changed phenotypes: Ciliary dyskinesia, primary, 21, MIM# 615294, Male infertility
Mendeliome v0.10975 HOXB6 Zornitza Stark Publications for gene: HOXB6 were set to 22371315
Mendeliome v0.10974 HOXB6 Zornitza Stark Classified gene: HOXB6 as Red List (low evidence)
Mendeliome v0.10974 HOXB6 Zornitza Stark Gene: hoxb6 has been classified as Red List (Low Evidence).
Mendeliome v0.10973 HOXB6 Krithika Murali reviewed gene: HOXB6: Rating: RED; Mode of pathogenicity: None; Publications: 17003840, 22371315; Phenotypes: Hypospadias; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.10973 FUZ Zornitza Stark Marked gene: FUZ as ready
Mendeliome v0.10973 FUZ Zornitza Stark Gene: fuz has been classified as Red List (Low Evidence).
Mendeliome v0.10973 FUZ Zornitza Stark Classified gene: FUZ as Red List (low evidence)
Mendeliome v0.10973 FUZ Zornitza Stark Gene: fuz has been classified as Red List (Low Evidence).
Mendeliome v0.10972 FTSJ1 Zornitza Stark Marked gene: FTSJ1 as ready
Mendeliome v0.10972 FTSJ1 Zornitza Stark Gene: ftsj1 has been classified as Green List (High Evidence).
Mendeliome v0.10972 FTSJ1 Zornitza Stark Phenotypes for gene: FTSJ1 were changed from to Intellectual developmental disorder, X-linked 9 MIM#309549
Mendeliome v0.10971 FTSJ1 Zornitza Stark Publications for gene: FTSJ1 were set to
Mendeliome v0.10970 FTSJ1 Zornitza Stark Mode of inheritance for gene: FTSJ1 was changed from Unknown to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Mendeliome v0.10969 FLAD1 Zornitza Stark Marked gene: FLAD1 as ready
Mendeliome v0.10969 FLAD1 Zornitza Stark Gene: flad1 has been classified as Green List (High Evidence).
Mendeliome v0.10969 FLAD1 Zornitza Stark Phenotypes for gene: FLAD1 were changed from to Lipid storage myopathy due to flavin adenine dinucleotide synthetase deficiency MIM#255100
Mendeliome v0.10968 FLAD1 Zornitza Stark Publications for gene: FLAD1 were set to
Mendeliome v0.10967 FLAD1 Zornitza Stark Mode of inheritance for gene: FLAD1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.10966 FGF17 Zornitza Stark Marked gene: FGF17 as ready
Mendeliome v0.10966 FGF17 Zornitza Stark Gene: fgf17 has been classified as Green List (High Evidence).
Mendeliome v0.10966 FGF17 Zornitza Stark Phenotypes for gene: FGF17 were changed from to Hypogonadotropic hypogonadism 20 with or without anosmia MIM#615270
Mendeliome v0.10965 FGF17 Zornitza Stark Publications for gene: FGF17 were set to
Mendeliome v0.10964 FGF17 Zornitza Stark Mode of inheritance for gene: FGF17 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.10963 SYP Zornitza Stark Marked gene: SYP as ready
Mendeliome v0.10963 SYP Zornitza Stark Gene: syp has been classified as Green List (High Evidence).
Mendeliome v0.10963 SYP Zornitza Stark Phenotypes for gene: SYP were changed from to Mental retardation, X-linked 96 MIM#300802
Mendeliome v0.10962 SYP Zornitza Stark Publications for gene: SYP were set to
Mendeliome v0.10961 SYP Zornitza Stark Mode of pathogenicity for gene: SYP was changed from to None
Mendeliome v0.10960 SYP Zornitza Stark Mode of inheritance for gene: SYP was changed from Unknown to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Mendeliome v0.10959 ZFYVE26 Zornitza Stark Marked gene: ZFYVE26 as ready
Mendeliome v0.10959 ZFYVE26 Zornitza Stark Gene: zfyve26 has been classified as Green List (High Evidence).
Mendeliome v0.10959 ZFYVE26 Zornitza Stark Phenotypes for gene: ZFYVE26 were changed from to Spastic paraplegia 15, autosomal recessive MIM#270700
Mendeliome v0.10958 ZFYVE26 Zornitza Stark Publications for gene: ZFYVE26 were set to
Mendeliome v0.10957 ZFYVE26 Zornitza Stark Mode of inheritance for gene: ZFYVE26 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.10956 ZDHHC9 Zornitza Stark Marked gene: ZDHHC9 as ready
Mendeliome v0.10956 ZDHHC9 Zornitza Stark Gene: zdhhc9 has been classified as Green List (High Evidence).
Mendeliome v0.10956 ZDHHC9 Zornitza Stark Phenotypes for gene: ZDHHC9 were changed from to Mental retardation, X-linked syndromic, Raymond type MIM# 300799
Mendeliome v0.10955 ZDHHC9 Zornitza Stark Publications for gene: ZDHHC9 were set to
Mendeliome v0.10954 ZDHHC9 Zornitza Stark Mode of inheritance for gene: ZDHHC9 was changed from Unknown to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Mendeliome v0.10953 FUZ Ain Roesley gene: FUZ was added
gene: FUZ was added to Mendeliome. Sources: Literature
Mode of inheritance for gene: FUZ was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: FUZ were set to 21840926
Phenotypes for gene: FUZ were set to {Neural tube defects, susceptibility to} MIM#182940
Penetrance for gene: FUZ were set to unknown
Review for gene: FUZ was set to RED
gene: FUZ was marked as current diagnostic
Added comment: Spina bifida cohort. Negative for VANGL1 and VANGL2, only FUZ was sequenced.
Variants identified in 5 individuals.
Arg404Gln (39 hets in gnomAD) and Asp354Tyr (6 hets in gnomAD). These variants are listed as risk factor in ClinVar
Pro39Ser (absent in gnomAD) was de novo by parental sanger and showed reduced cell mobility on scratch assays.

2 other variants Gly140Glu and Ser142Thr were deemed non-causative due to poor in silicos and conservation

Finally, hom KO mouse models were done to prove neural tube defects
Sources: Literature
Mendeliome v0.10953 FTSJ1 Ain Roesley reviewed gene: FTSJ1: Rating: GREEN; Mode of pathogenicity: None; Publications: 15342698, 18081026, 15162322, 26310293; Phenotypes: Intellectual developmental disorder, X-linked 9 MIM#309549; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females; Current diagnostic: yes
Mendeliome v0.10953 FLAD1 Ain Roesley reviewed gene: FLAD1: Rating: GREEN; Mode of pathogenicity: None; Publications: 34454814, 34718578, 31392824, 30982706, 30311138, 30427553, 28433476, 27259049, 25058219; Phenotypes: Lipid storage myopathy due to flavin adenine dinucleotide synthetase deficiency MIM#255100; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Mendeliome v0.10953 FGF17 Ain Roesley changed review comment from: 31200363;
1x individual

31748124
3x unrelated individuals. 1 has p.48_52del and another variant in OTUD4 (no current mendelian disease association), 1x with Pro120Leu (5 hets in gnomAD) and 1x with Lys191Arg (55 hets in gnomad)

23643382
3x unrelated individuals, including 1 large consanguineous 10-generation French Canadian family.
In this large family, 3 other variants in FGFR1, HS6ST1, and FLRT3 were identified. None of the other affecteds carried the FGF17 variant

Summary: 3x individuals with convincing evidence; to: PMID:31200363;
1x individual

PMID:31748124
3x unrelated individuals. 1 has p.48_52del and another variant in OTUD4 (no current mendelian disease association), 1x with Pro120Leu (5 hets in gnomAD) and 1x with Lys191Arg (55 hets in gnomad)

PMID:23643382
3x unrelated individuals, including 1 large consanguineous 10-generation French Canadian family.
In this large family, 3 other variants in FGFR1, HS6ST1, and FLRT3 were identified. None of the other affecteds carried the FGF17 variant

Summary: 3x individuals with convincing evidence
Mendeliome v0.10953 FGF17 Ain Roesley reviewed gene: FGF17: Rating: GREEN; Mode of pathogenicity: None; Publications: 31200363, 31748124, 23643382; Phenotypes: Hypogonadotropic hypogonadism 20 with or without anosmia MIM#615270; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes
Mendeliome v0.10953 ZFYVE26 Ain Roesley changed review comment from: Genereviews:
>70 individuals reported; to: Genereviews:
>70 individuals reported.

While onset of spasticity is typically in mid- to late childhood or adolescence (i.e., between ages 5 and 18 years), other manifestations, such as developmental delay or learning disability, may be present earlier, often preceding motor involvement. Individuals with adult onset have also been reported.
Mendeliome v0.10953 ZFYVE26 Ain Roesley reviewed gene: ZFYVE26: Rating: GREEN; Mode of pathogenicity: None; Publications: 34057829; Phenotypes: Spastic paraplegia 15, autosomal recessive MIM#270700; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Mendeliome v0.10953 ZDHHC9 Ain Roesley changed review comment from: >10 families reported; to: >10 families reported.

Intra-genic CNV in 2 families
Mendeliome v0.10953 ZDHHC9 Ain Roesley reviewed gene: ZDHHC9: Rating: GREEN; Mode of pathogenicity: None; Publications: 26000327, 29681091; Phenotypes: Mental retardation, X-linked syndromic, Raymond typeMIM# 300799; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females; Current diagnostic: yes
Mendeliome v0.10953 SPRED2 Zornitza Stark Phenotypes for gene: SPRED2 were changed from Rasopathy; developmental delay; intellectual disability; cardiac defects; short stature; skeletal anomalies; a typical facial gestalt to Noonan syndrome 14, MIM# 619745
Mendeliome v0.10952 SPRED2 Zornitza Stark reviewed gene: SPRED2: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Noonan syndrome 14, MIM# 619745; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.10952 POLRMT Zornitza Stark Phenotypes for gene: POLRMT were changed from Mitochondrial disorder; intellectual disability; hypotonia to Combined oxidative phosphorylation deficiency 55, MIM# 619743; intellectual disability; hypotonia
Mendeliome v0.10951 POLRMT Zornitza Stark edited their review of gene: POLRMT: Changed phenotypes: Combined oxidative phosphorylation deficiency 55, MIM# 619743, intellectual disability, hypotonia
Mendeliome v0.10951 BAG5 Zornitza Stark Marked gene: BAG5 as ready
Mendeliome v0.10951 BAG5 Zornitza Stark Gene: bag5 has been classified as Green List (High Evidence).
Mendeliome v0.10951 BAG5 Zornitza Stark Classified gene: BAG5 as Green List (high evidence)
Mendeliome v0.10951 BAG5 Zornitza Stark Gene: bag5 has been classified as Green List (High Evidence).
Mendeliome v0.10950 BAG5 Zornitza Stark gene: BAG5 was added
gene: BAG5 was added to Mendeliome. Sources: Literature
Mode of inheritance for gene: BAG5 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: BAG5 were set to 35044787
Phenotypes for gene: BAG5 were set to Cardiomyopathy, dilated, 2F, MIM# 619747
Review for gene: BAG5 was set to GREEN
Added comment: 5 individuals from four unrelated families reported. All had early-onset disease, with the diagnosis being made in the second decade of life in 4 patients (families 1, 3, and 4) and at age 34 in 1 (family 2). Refractory ventricular arrhythmias (tachycardia or fibrillation), severely reduced left ventricular ejection fractions, elevated left ventricular diastolic dimensions, and elevated brain natriuretic peptide (BNP) levels reported. All developed severe heart failure requiring placement of a left ventricular assist device for circulatory support, and at least 1 underwent cardiac transplantation.
Sources: Literature
Mendeliome v0.10949 BCO1 Zornitza Stark Marked gene: BCO1 as ready
Mendeliome v0.10949 BCO1 Zornitza Stark Gene: bco1 has been classified as Red List (Low Evidence).
Mendeliome v0.10949 BCO1 Zornitza Stark Classified gene: BCO1 as Red List (low evidence)
Mendeliome v0.10949 BCO1 Zornitza Stark Gene: bco1 has been classified as Red List (Low Evidence).
Mendeliome v0.10948 PRKCH Zornitza Stark Marked gene: PRKCH as ready
Mendeliome v0.10948 PRKCH Zornitza Stark Gene: prkch has been classified as Red List (Low Evidence).
Mendeliome v0.10948 PRKCH Zornitza Stark Classified gene: PRKCH as Red List (low evidence)
Mendeliome v0.10948 PRKCH Zornitza Stark Gene: prkch has been classified as Red List (Low Evidence).
Mendeliome v0.10947 ALDH2 Zornitza Stark Marked gene: ALDH2 as ready
Mendeliome v0.10947 ALDH2 Zornitza Stark Gene: aldh2 has been classified as Red List (Low Evidence).
Mendeliome v0.10947 ALDH2 Zornitza Stark Publications for gene: ALDH2 were set to
Mendeliome v0.10946 ALDH2 Zornitza Stark Classified gene: ALDH2 as Red List (low evidence)
Mendeliome v0.10946 ALDH2 Zornitza Stark Gene: aldh2 has been classified as Red List (Low Evidence).
Mendeliome v0.10945 BCO1 Ain Roesley reviewed gene: BCO1: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None; Current diagnostic: yes
Mendeliome v0.10945 PRKCH Ain Roesley reviewed gene: PRKCH: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None; Current diagnostic: yes
Mendeliome v0.10945 ALDH2 Ain Roesley reviewed gene: ALDH2: Rating: RED; Mode of pathogenicity: None; Publications: 31368097; Phenotypes: ; Mode of inheritance: None; Current diagnostic: yes
Mendeliome v0.10945 ABHD16A Zornitza Stark Marked gene: ABHD16A as ready
Mendeliome v0.10945 ABHD16A Zornitza Stark Gene: abhd16a has been classified as Green List (High Evidence).
Mendeliome v0.10945 ABHD16A Zornitza Stark Phenotypes for gene: ABHD16A were changed from Spastic paraplegia; Intellectual Disability; Callosome to Spastic paraplegia 86, autosomal recessive, MIM# 619735; Intellectual Disability; Corpus callosum abnormalities
Mendeliome v0.10944 ABHD16A Zornitza Stark reviewed gene: ABHD16A: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Spastic paraplegia 86, autosomal recessive, MIM# 619735; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.10944 GSPT2 Zornitza Stark Marked gene: GSPT2 as ready
Mendeliome v0.10944 GSPT2 Zornitza Stark Gene: gspt2 has been classified as Red List (Low Evidence).
Mendeliome v0.10944 GSPT2 Zornitza Stark gene: GSPT2 was added
gene: GSPT2 was added to Mendeliome. Sources: Expert Review
Mode of inheritance for gene: GSPT2 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Publications for gene: GSPT2 were set to 28414775
Phenotypes for gene: GSPT2 were set to Intellectual disability
Review for gene: GSPT2 was set to RED
Added comment: Gene is contained in multi-gene deletions linked to ID.
Sources: Expert Review
Mendeliome v0.10943 SUMO1 Zornitza Stark Marked gene: SUMO1 as ready
Mendeliome v0.10943 SUMO1 Zornitza Stark Gene: sumo1 has been classified as Red List (Low Evidence).
Mendeliome v0.10943 SUMO1 Zornitza Stark Phenotypes for gene: SUMO1 were changed from to Cleft lip and palate
Mendeliome v0.10942 SUMO1 Zornitza Stark Publications for gene: SUMO1 were set to
Mendeliome v0.10941 SUMO1 Zornitza Stark Classified gene: SUMO1 as Red List (low evidence)
Mendeliome v0.10941 SUMO1 Zornitza Stark Gene: sumo1 has been classified as Red List (Low Evidence).
Mendeliome v0.10940 CPS1 Belinda Chong reviewed gene: CPS1: Rating: GREEN; Mode of pathogenicity: None; Publications: 8486760, 17310273, 21120950; Phenotypes: Carbamoylphosphate synthetase I deficiency MIM#237300; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Mendeliome v0.10940 SUMO1 Krithika Murali reviewed gene: SUMO1: Rating: RED; Mode of pathogenicity: None; Publications: 25111678, 18983974, 22522387; Phenotypes: cleft lip and palate; Mode of inheritance: None
Mendeliome v0.10940 THUMPD1 Zornitza Stark Marked gene: THUMPD1 as ready
Mendeliome v0.10940 THUMPD1 Zornitza Stark Gene: thumpd1 has been classified as Green List (High Evidence).
Mendeliome v0.10940 THUMPD1 Zornitza Stark Phenotypes for gene: THUMPD1 were changed from Syndromic form of intellectual disability associated with developmental delay, behavioral abnormalities, hearing loss and facial dysmorphism, AR to Syndromic disease, MONDO:0002254, THUMPD1-related
Mendeliome v0.10939 THUMPD1 Zornitza Stark Classified gene: THUMPD1 as Green List (high evidence)
Mendeliome v0.10939 THUMPD1 Zornitza Stark Gene: thumpd1 has been classified as Green List (High Evidence).
Mendeliome v0.10938 THUMPD1 Chern Lim changed review comment from: Broly, M. et al. (2022), AJHG:
- 13 individuals from 8 families, loss of function variants (PTVs, one missense, one single AA del).
- Common phenotypic findings included global developmental delay, speech delay, moderate to severe intellectual deficiency, behavioral abnormalities such as angry outbursts, facial dysmorphism and ophthalmological abnormalities.
Sources: Other; to: Broly, M. et al. (2022), AJHG:
- 13 individuals from 8 families, biallelic loss of function variants (PTVs, one missense, one single AA del).
- Common phenotypic findings included global developmental delay, speech delay, moderate to severe intellectual deficiency, behavioral abnormalities such as angry outbursts, facial dysmorphism and ophthalmological abnormalities.
Sources: Other
Mendeliome v0.10938 THUMPD1 Chern Lim changed review comment from: Broly, M. et al. (2022):
- 13 individuals from 8 families, loss of function variants (PTVs, one missense, one single AA del).
- Common phenotypic findings included global developmental delay, speech delay, moderate to severe intellectual deficiency, behavioral abnormalities such as angry outbursts, facial dysmorphism and ophthalmological abnormalities.
Sources: Other; to: Broly, M. et al. (2022), AJHG:
- 13 individuals from 8 families, loss of function variants (PTVs, one missense, one single AA del).
- Common phenotypic findings included global developmental delay, speech delay, moderate to severe intellectual deficiency, behavioral abnormalities such as angry outbursts, facial dysmorphism and ophthalmological abnormalities.
Sources: Other
Mendeliome v0.10938 THUMPD1 Chern Lim changed review comment from: Broly, M. et al. (2022) manuscript accepted in AJHG:
- 13 individuals from 8 families, loss of function variants (PTVs, one missense, one single AA del).
- Common phenotypic findings included global developmental delay, speech delay, moderate to severe intellectual deficiency, behavioral abnormalities such as angry outbursts, facial dysmorphism and ophthalmological abnormalities.
Sources: Other; to: Broly, M. et al. (2022):
- 13 individuals from 8 families, loss of function variants (PTVs, one missense, one single AA del).
- Common phenotypic findings included global developmental delay, speech delay, moderate to severe intellectual deficiency, behavioral abnormalities such as angry outbursts, facial dysmorphism and ophthalmological abnormalities.
Sources: Other
Mendeliome v0.10938 THUMPD1 Chern Lim gene: THUMPD1 was added
gene: THUMPD1 was added to Mendeliome. Sources: Other
Mode of inheritance for gene: THUMPD1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: THUMPD1 were set to Syndromic form of intellectual disability associated with developmental delay, behavioral abnormalities, hearing loss and facial dysmorphism, AR
Review for gene: THUMPD1 was set to GREEN
gene: THUMPD1 was marked as current diagnostic
Added comment: Broly, M. et al. (2022) manuscript accepted in AJHG:
- 13 individuals from 8 families, loss of function variants (PTVs, one missense, one single AA del).
- Common phenotypic findings included global developmental delay, speech delay, moderate to severe intellectual deficiency, behavioral abnormalities such as angry outbursts, facial dysmorphism and ophthalmological abnormalities.
Sources: Other
Mendeliome v0.10938 RAB39B Zornitza Stark Marked gene: RAB39B as ready
Mendeliome v0.10938 RAB39B Zornitza Stark Gene: rab39b has been classified as Green List (High Evidence).
Mendeliome v0.10938 RAB39B Zornitza Stark Phenotypes for gene: RAB39B were changed from to Intellectual developmental disorder, X-linked 72 MIM#300271; Waisman syndrome MIM#311510
Mendeliome v0.10937 RAB39B Zornitza Stark Publications for gene: RAB39B were set to
Mendeliome v0.10936 RAB39B Zornitza Stark Mode of inheritance for gene: RAB39B was changed from Unknown to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Mendeliome v0.10935 PTCHD1 Zornitza Stark Marked gene: PTCHD1 as ready
Mendeliome v0.10935 PTCHD1 Zornitza Stark Gene: ptchd1 has been classified as Green List (High Evidence).
Mendeliome v0.10935 PTCHD1 Zornitza Stark Phenotypes for gene: PTCHD1 were changed from to intellectual disability MIM#300830
Mendeliome v0.10934 PTCHD1 Zornitza Stark Publications for gene: PTCHD1 were set to
Mendeliome v0.10933 PTCHD1 Zornitza Stark Mode of inheritance for gene: PTCHD1 was changed from Unknown to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Mendeliome v0.10932 PPP3CA Zornitza Stark Marked gene: PPP3CA as ready
Mendeliome v0.10932 PPP3CA Zornitza Stark Gene: ppp3ca has been classified as Green List (High Evidence).
Mendeliome v0.10932 PPP3CA Zornitza Stark Phenotypes for gene: PPP3CA were changed from to Developmental and epileptic encephalopathy 91, MIM#617711; Arthrogryposis, cleft palate, craniosynostosis and impaired intellectual development, MIM#618265
Mendeliome v0.10931 PPP3CA Zornitza Stark Publications for gene: PPP3CA were set to
Mendeliome v0.10930 PPP3CA Zornitza Stark Mode of inheritance for gene: PPP3CA was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.10929 PLP1 Zornitza Stark Marked gene: PLP1 as ready
Mendeliome v0.10929 PLP1 Zornitza Stark Gene: plp1 has been classified as Green List (High Evidence).
Mendeliome v0.10929 PLP1 Zornitza Stark Phenotypes for gene: PLP1 were changed from to Pelizaeus-Merzbacher disease MIM#312080; Spastic paraplegia 2, X-linked MIM#312920
Mendeliome v0.10928 PLP1 Zornitza Stark Publications for gene: PLP1 were set to
Mendeliome v0.10927 PLP1 Zornitza Stark Mode of inheritance for gene: PLP1 was changed from Unknown to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Mendeliome v0.10926 LDB3 Zornitza Stark Marked gene: LDB3 as ready
Mendeliome v0.10926 LDB3 Zornitza Stark Gene: ldb3 has been classified as Green List (High Evidence).
Mendeliome v0.10926 LDB3 Zornitza Stark Phenotypes for gene: LDB3 were changed from to Cardiomyopathy, dilated, 1C, with or without LVNC MIM#601493; Cardiomyopathy, hypertrophic, 24 MIM#601493; Left ventricular noncompaction 3 MIM#601493; Myopathy, myofibrillar, 4 MIM#609452
Mendeliome v0.10925 LDB3 Zornitza Stark Publications for gene: LDB3 were set to
Mendeliome v0.10924 LDB3 Zornitza Stark Mode of inheritance for gene: LDB3 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.10923 RAB39B Ain Roesley reviewed gene: RAB39B: Rating: GREEN; Mode of pathogenicity: None; Publications: 34761259, 20159109, 25434005, 27066548, 26399558, 27943471, 28851564, 28851564, 29152164, 33880059, 27448726, 32670181; Phenotypes: Intellectual developmental disorder, X-linked 72 MIM#300271, Waisman syndrome MIM#311510; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females; Current diagnostic: yes
Mendeliome v0.10923 PTCHD1 Ain Roesley reviewed gene: PTCHD1: Rating: GREEN; Mode of pathogenicity: None; Publications: 33856728, 25131214; Phenotypes: intellectual disability MIM#300830; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females; Current diagnostic: yes
Mendeliome v0.10923 PRSS12 Ain Roesley reviewed gene: PRSS12: Rating: RED; Mode of pathogenicity: None; Publications: 12459588, 22090715, 23344636; Phenotypes: Intellectual disability, PRSS12 related MIM#249500; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Mendeliome v0.10923 PPP3CA Chern Lim changed review comment from: PMID: 29432562:
- Overexpression studies using yeast showed missense variants in the autoinhibitory domain resulted in gain of function, missense variants in the catalytic domain resulted in loss of function (however dom-neg has not been ruled out).
- Loss-of-function and gain-of-function mutations of PPP3CA lead to early onset epileptic encephalopathy and multiple congenital abnormalities, respectively.

PMID: 32593294:
- Reported a patient with PTV in the C-term predicted to escape NMD, clinical features consistent with MIM#617711.
- Summarised that missense variants in catalytic domain and those upstream of autoinhibitory domain, PTVs in C-term predicted to escape NMD: LoF, MIM#617711. Missense in autoinhibitory domain: GoF, MIM#618265.; to: PMID: 29432562:
- Overexpression studies using yeast showed missense variants in the autoinhibitory domain resulted in gain of function, missense variants in the catalytic domain resulted in loss of function (however dom-neg has not been ruled out).
- Loss-of-function and gain-of-function mutations of PPP3CA lead to early onset epileptic encephalopathy and multiple congenital abnormalities, respectively.

PMID: 32593294:
- Reported a patient with PTV in the C-term predicted to escape NMD, clinical features consistent with MIM#617711.
- 15 variants have been reported. Summarised that missense variants in catalytic domain and those upstream of autoinhibitory domain, PTVs in C-term predicted to escape NMD: LoF, MIM#617711; missense in autoinhibitory domain: GoF, MIM#618265.
Mendeliome v0.10923 PPP3CA Chern Lim reviewed gene: PPP3CA: Rating: GREEN; Mode of pathogenicity: Other; Publications: PMID: 29432562, 32593294; Phenotypes: Developmental and epileptic encephalopathy 91, MIM#617711, Arthrogryposis, cleft palate, craniosynostosis and impaired intellectual development, MIM#618265; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes
Mendeliome v0.10923 PLP1 Ain Roesley reviewed gene: PLP1: Rating: GREEN; Mode of pathogenicity: None; Publications: 20301361; Phenotypes: Pelizaeus-Merzbacher disease MIM#312080, Spastic paraplegia 2, X-linked MIM#312920; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females; Current diagnostic: yes
Mendeliome v0.10923 LDB3 Ain Roesley reviewed gene: LDB3: Rating: GREEN; Mode of pathogenicity: None; Publications: 26419279, 16427346, 14660611, 14662268, 27546599, 25911362; Phenotypes: Cardiomyopathy, dilated, 1C, with or without LVNC MIM#601493, Cardiomyopathy, hypertrophic, 24 MIM#601493, Left ventricular noncompaction 3 MIM#601493, Myopathy, myofibrillar, 4 MIM#609452; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes
Mendeliome v0.10923 HYAL2 Zornitza Stark Publications for gene: HYAL2 were set to 28081210; 23172227; 26515055
Mendeliome v0.10922 HYAL2 Zornitza Stark Classified gene: HYAL2 as Green List (high evidence)
Mendeliome v0.10922 HYAL2 Zornitza Stark Gene: hyal2 has been classified as Green List (High Evidence).
Mendeliome v0.10921 PAX5 Zornitza Stark Marked gene: PAX5 as ready
Mendeliome v0.10921 PAX5 Zornitza Stark Gene: pax5 has been classified as Green List (High Evidence).
Mendeliome v0.10921 PAX5 Zornitza Stark Phenotypes for gene: PAX5 were changed from to Neurodevelopmental disorder MONDO:0700092, PAX5-related
Mendeliome v0.10920 COL25A1 Bryony Thompson Phenotypes for gene: COL25A1 were changed from Fibrosis of extraocular muscles, congenital, 5, MIM# 616219 to Fibrosis of extraocular muscles, congenital, 5, MIM# 616219; arthrogryposis multiplex congenita MONDO:0015168
Mendeliome v0.10919 COL25A1 Bryony Thompson Publications for gene: COL25A1 were set to 25500261; 26486031; 31875546; 26437029
Mendeliome v0.10918 COL25A1 Bryony Thompson reviewed gene: COL25A1: Rating: GREEN; Mode of pathogenicity: None; Publications: 35077597, 26437029; Phenotypes: arthrogryposis multiplex congenita MONDO:0015168; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.10918 RPL8 Bryony Thompson Marked gene: RPL8 as ready
Mendeliome v0.10918 RPL8 Bryony Thompson Gene: rpl8 has been classified as Amber List (Moderate Evidence).
Mendeliome v0.10918 RPL8 Bryony Thompson Classified gene: RPL8 as Amber List (moderate evidence)
Mendeliome v0.10918 RPL8 Bryony Thompson Gene: rpl8 has been classified as Amber List (Moderate Evidence).
Mendeliome v0.10917 HYAL2 Krithika Murali reviewed gene: HYAL2: Rating: GREEN; Mode of pathogenicity: None; Publications: 34906488, 28081210, 23172227, 26515055; Phenotypes: Cleft lip and palate, cor triatriatum, congenital cardiac malformations; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.10917 ABCB4 Zornitza Stark Phenotypes for gene: ABCB4 were changed from Cholestasis, progressive familial intrahepatic 3 MIM#602347; disorder of bile acid metabolism to Cholestasis, progressive familial intrahepatic 3 MIM#602347; disorder of bile acid metabolism; Gallbladder disease 1 (MIM#600803)
Mendeliome v0.10916 ABCB4 Zornitza Stark Publications for gene: ABCB4 were set to 8666348; 17726488
Mendeliome v0.10915 ABCB4 Zornitza Stark Mode of inheritance for gene: ABCB4 was changed from BIALLELIC, autosomal or pseudoautosomal to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Mendeliome v0.10914 RPL8 Bryony Thompson gene: RPL8 was added
gene: RPL8 was added to Mendeliome. Sources: Literature
Mode of inheritance for gene: RPL8 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: RPL8 were set to 25424902; 34961992
Phenotypes for gene: RPL8 were set to Diamond-Blackfan anemia MONDO:0015253
Review for gene: RPL8 was set to AMBER
Added comment: 2 unrelated DBA cases with de novo missense variants, and functional studies in lymphoblastoid cells and yeast models demonstrate the 2 missense variants are functionally deficient proteins that affect ribosome production.
Sources: Literature
Mendeliome v0.10913 ABCB4 Lucy Spencer reviewed gene: ABCB4: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 18482588, 28924228, 32376413; Phenotypes: Cholestasis, intrahepatic, of pregnancy, 3 (MIM#614972), Gallbladder disease 1 (MIM#600803); Mode of inheritance: BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Mendeliome v0.10913 PAX5 Bryony Thompson Publications for gene: PAX5 were set to
Mendeliome v0.10912 PAX5 Bryony Thompson Mode of inheritance for gene: PAX5 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.10911 PAX5 Bryony Thompson reviewed gene: PAX5: Rating: GREEN; Mode of pathogenicity: None; Publications: 35094443, 31452935, 28263302, 25418537, 8001127, 27626380; Phenotypes: neurodevelopmental disorder MONDO:0700092; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.10911 EEF1B2 Bryony Thompson Phenotypes for gene: EEF1B2 were changed from Intellectual disability to neurodevelopmental disorder MONDO:0700092; non-syndromic ID and seizures; Intellectual disability
Mendeliome v0.10910 EEF1B2 Bryony Thompson Publications for gene: EEF1B2 were set to 31845318; 21937992
Mendeliome v0.10909 EEF1B2 Bryony Thompson Classified gene: EEF1B2 as Green List (high evidence)
Mendeliome v0.10909 EEF1B2 Bryony Thompson Gene: eef1b2 has been classified as Green List (High Evidence).
Mendeliome v0.10908 EEF1B2 Bryony Thompson reviewed gene: EEF1B2: Rating: GREEN; Mode of pathogenicity: None; Publications: 31845318, 21937992, 35015920; Phenotypes: neurodevelopmental disorder MONDO:0700092, non-syndromic ID and seizures; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.10908 ARR3 Bryony Thompson Marked gene: ARR3 as ready
Mendeliome v0.10908 ARR3 Bryony Thompson Gene: arr3 has been classified as Green List (High Evidence).
Mendeliome v0.10908 ARR3 Bryony Thompson Classified gene: ARR3 as Green List (high evidence)
Mendeliome v0.10908 ARR3 Bryony Thompson Gene: arr3 has been classified as Green List (High Evidence).
Mendeliome v0.10907 ARR3 Bryony Thompson gene: ARR3 was added
gene: ARR3 was added to Mendeliome. Sources: Literature
Mode of inheritance for gene: ARR3 was set to Other
Publications for gene: ARR3 were set to 27829781; 35001458
Phenotypes for gene: ARR3 were set to Myopia 26, X-linked, female-limited MIM#301010
Review for gene: ARR3 was set to GREEN
Added comment: At least 6 multi-generational families with female-limited early-onset high myopia. Only female carriers are affected and hemizygous males are unaffected. Authors hypothesise the mode of inheritance might be explained by metabolic interference due to X-inactivation.
Sources: Literature
Mendeliome v0.10906 SLC26A8 Bryony Thompson Marked gene: SLC26A8 as ready
Mendeliome v0.10906 SLC26A8 Bryony Thompson Gene: slc26a8 has been classified as Green List (High Evidence).
Mendeliome v0.10906 SLC26A8 Bryony Thompson Phenotypes for gene: SLC26A8 were changed from to non-syndromic male infertility due to sperm motility disorder MONDO:0017173
Mendeliome v0.10905 SLC26A8 Bryony Thompson Publications for gene: SLC26A8 were set to
Mendeliome v0.10904 SLC26A8 Bryony Thompson Mode of inheritance for gene: SLC26A8 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.10903 SLC26A8 Bryony Thompson reviewed gene: SLC26A8: Rating: GREEN; Mode of pathogenicity: None; Publications: 34923715, 23582645, 22121115; Phenotypes: non-syndromic male infertility due to sperm motility disorder MONDO:0017173; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.10903 PYROXD2 Zornitza Stark Marked gene: PYROXD2 as ready
Mendeliome v0.10903 PYROXD2 Zornitza Stark Gene: pyroxd2 has been classified as Amber List (Moderate Evidence).
Mendeliome v0.10903 PYROXD2 Zornitza Stark Classified gene: PYROXD2 as Amber List (moderate evidence)
Mendeliome v0.10903 PYROXD2 Zornitza Stark Gene: pyroxd2 has been classified as Amber List (Moderate Evidence).
Mendeliome v0.10902 PYROXD2 Zornitza Stark gene: PYROXD2 was added
gene: PYROXD2 was added to Mendeliome. Sources: Literature
Mode of inheritance for gene: PYROXD2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: PYROXD2 were set to 35055180
Phenotypes for gene: PYROXD2 were set to Mitochondrial disease, MONDO:0044970
Review for gene: PYROXD2 was set to AMBER
Added comment: Single individual reported, functional data.
Sources: Literature
Mendeliome v0.10901 Zornitza Stark removed gene:BAP1 from the panel
Mendeliome v0.10900 OBSCN Zornitza Stark Phenotypes for gene: OBSCN were changed from Hypertrophic cardiomyopathy to Rhabdomyolysis MONDO:0005290, OBSCN-related
Mendeliome v0.10899 OBSCN Zornitza Stark Publications for gene: OBSCN were set to 30681346; 26573135; 17716621; 25173926; 28630914; 33438037
Mendeliome v0.10898 OBSCN Zornitza Stark Mode of inheritance for gene: OBSCN was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.10897 OBSCN Zornitza Stark Classified gene: OBSCN as Green List (high evidence)
Mendeliome v0.10897 OBSCN Zornitza Stark Gene: obscn has been classified as Green List (High Evidence).
Mendeliome v0.10896 HAND2 Zornitza Stark Marked gene: HAND2 as ready
Mendeliome v0.10896 HAND2 Zornitza Stark Gene: hand2 has been classified as Amber List (Moderate Evidence).
Mendeliome v0.10896 HAND2 Zornitza Stark Phenotypes for gene: HAND2 were changed from to Congenital heart disease
Mendeliome v0.10895 HAND2 Zornitza Stark Publications for gene: HAND2 were set to
Mendeliome v0.10894 HAND2 Zornitza Stark Mode of inheritance for gene: HAND2 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.10893 HAND2 Zornitza Stark Classified gene: HAND2 as Amber List (moderate evidence)
Mendeliome v0.10893 HAND2 Zornitza Stark Gene: hand2 has been classified as Amber List (Moderate Evidence).
Mendeliome v0.10892 POP1 Zornitza Stark Marked gene: POP1 as ready
Mendeliome v0.10892 POP1 Zornitza Stark Gene: pop1 has been classified as Green List (High Evidence).
Mendeliome v0.10892 POP1 Zornitza Stark Phenotypes for gene: POP1 were changed from to Anauxetic dysplasia 2, OMIM:617396; Anauxetic dysplasia 2, MONDO:0054561
Mendeliome v0.10891 POP1 Zornitza Stark Publications for gene: POP1 were set to
Mendeliome v0.10890 POP1 Zornitza Stark Mode of inheritance for gene: POP1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.10889 POP1 Zornitza Stark reviewed gene: POP1: Rating: GREEN; Mode of pathogenicity: None; Publications: 21455487, 27380734, 28067412; Phenotypes: Anauxetic dysplasia 2, OMIM:617396, Anauxetic dysplasia 2, MONDO:0054561; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.10889 CENPJ Zornitza Stark Publications for gene: CENPJ were set to 20522431; 23166506; 15793586; 20978018; 22775483; 32677750; 32549991
Mendeliome v0.10888 CENPJ Zornitza Stark edited their review of gene: CENPJ: Added comment: PMID 34068194: two further families reported with Seckel syndrome, same homozygous missense, founder?; Changed publications: 20522431, 23166506, 15793586, 20978018, 22775483, 32677750, 32549991, 34068194
Mendeliome v0.10888 MVD Zornitza Stark Phenotypes for gene: MVD were changed from Porokeratosis 7, multiple types, MIM# 614714 to Porokeratosis 7, multiple types, MIM# 614714; Nonsyndromic genetic hearing loss MONDO:0019497, MVD-related, AR
Mendeliome v0.10887 MVD Zornitza Stark Publications for gene: MVD were set to 30942823; 33491095
Mendeliome v0.10886 PLCD1 Zornitza Stark Marked gene: PLCD1 as ready
Mendeliome v0.10886 PLCD1 Zornitza Stark Gene: plcd1 has been classified as Green List (High Evidence).
Mendeliome v0.10886 PLCD1 Zornitza Stark Phenotypes for gene: PLCD1 were changed from to Nail disorder, nonsyndromic congenital, 3, (leukonychia) MIM#151600; nonsyndromic congenital nail disorder 3 MONDO:0007900
Mendeliome v0.10885 PLCD1 Zornitza Stark Publications for gene: PLCD1 were set to
Mendeliome v0.10884 PLCD1 Zornitza Stark Mode of inheritance for gene: PLCD1 was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Mendeliome v0.10883 AKAP10 Zornitza Stark Marked gene: AKAP10 as ready
Mendeliome v0.10883 AKAP10 Zornitza Stark Gene: akap10 has been classified as Red List (Low Evidence).
Mendeliome v0.10883 AKAP10 Zornitza Stark Phenotypes for gene: AKAP10 were changed from to {Cardiac conduction defect, susceptibility to} MIM#115080; sudden cardiac arrest MONDO:0007264
Mendeliome v0.10882 AKAP10 Zornitza Stark Publications for gene: AKAP10 were set to
Mendeliome v0.10881 AKAP10 Zornitza Stark Classified gene: AKAP10 as Red List (low evidence)
Mendeliome v0.10881 AKAP10 Zornitza Stark Gene: akap10 has been classified as Red List (Low Evidence).
Mendeliome v0.10880 HMCN1 Zornitza Stark Marked gene: HMCN1 as ready
Mendeliome v0.10880 HMCN1 Zornitza Stark Gene: hmcn1 has been classified as Red List (Low Evidence).
Mendeliome v0.10880 HMCN1 Zornitza Stark Phenotypes for gene: HMCN1 were changed from to {Macular degeneration, age-related, 1} MIM#603075; age related macular degeneration 1 MONDO:0011285
Mendeliome v0.10879 HMCN1 Zornitza Stark Publications for gene: HMCN1 were set to
Mendeliome v0.10878 HMCN1 Zornitza Stark Mode of inheritance for gene: HMCN1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.10877 HMCN1 Zornitza Stark Classified gene: HMCN1 as Red List (low evidence)
Mendeliome v0.10877 HMCN1 Zornitza Stark Gene: hmcn1 has been classified as Red List (Low Evidence).
Mendeliome v0.10876 CCND1 Zornitza Stark Marked gene: CCND1 as ready
Mendeliome v0.10876 CCND1 Zornitza Stark Gene: ccnd1 has been classified as Red List (Low Evidence).
Mendeliome v0.10876 CCND1 Zornitza Stark Publications for gene: CCND1 were set to
Mendeliome v0.10875 CCND1 Zornitza Stark Phenotypes for gene: CCND1 were changed from to {Colorectal cancer, susceptibility to} MIM#114500; {Multiple myeloma, susceptibility to} MIM#254500; {von Hippel-Lindau syndrome, modifier of} MIM#193300
Mendeliome v0.10874 CCND1 Zornitza Stark Classified gene: CCND1 as Red List (low evidence)
Mendeliome v0.10874 CCND1 Zornitza Stark Gene: ccnd1 has been classified as Red List (Low Evidence).
Mendeliome v0.10873 PADI4 Zornitza Stark Marked gene: PADI4 as ready
Mendeliome v0.10873 PADI4 Zornitza Stark Gene: padi4 has been classified as Red List (Low Evidence).
Mendeliome v0.10873 PADI4 Zornitza Stark Phenotypes for gene: PADI4 were changed from to Susceptibility to rheumatoid arthritis
Mendeliome v0.10872 PADI4 Zornitza Stark Publications for gene: PADI4 were set to
Mendeliome v0.10871 PADI4 Zornitza Stark Classified gene: PADI4 as Red List (low evidence)
Mendeliome v0.10871 PADI4 Zornitza Stark Gene: padi4 has been classified as Red List (Low Evidence).
Mendeliome v0.10870 HMGB1 Zornitza Stark Phenotypes for gene: HMGB1 were changed from Mirror image foot polydactyly; Developmental delay and microcephaly, no OMIM # to Mirror image foot polydactyly; Neurodevelopmental disorder MONDO:0700092, HMGB1-related
Mendeliome v0.10869 PDSS2 Zornitza Stark Marked gene: PDSS2 as ready
Mendeliome v0.10869 PDSS2 Zornitza Stark Gene: pdss2 has been classified as Green List (High Evidence).
Mendeliome v0.10869 PDSS2 Zornitza Stark Phenotypes for gene: PDSS2 were changed from to Coenzyme Q10 deficiency, primary, 3 MIM#614652
Mendeliome v0.10868 PDSS2 Zornitza Stark Publications for gene: PDSS2 were set to
Mendeliome v0.10867 PDSS2 Zornitza Stark Mode of inheritance for gene: PDSS2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.10866 PDHX Zornitza Stark Marked gene: PDHX as ready
Mendeliome v0.10866 PDHX Zornitza Stark Gene: pdhx has been classified as Green List (High Evidence).
Mendeliome v0.10866 PDHX Zornitza Stark Phenotypes for gene: PDHX were changed from to Lactic acidaemia due to PDX1 deficiency MIM#245349
Mendeliome v0.10865 PDHX Zornitza Stark Publications for gene: PDHX were set to
Mendeliome v0.10864 PDHX Zornitza Stark Mode of inheritance for gene: PDHX was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.10863 PDHX Zornitza Stark Tag founder tag was added to gene: PDHX.
Mendeliome v0.10863 MVD Paul De Fazio reviewed gene: MVD: Rating: RED; Mode of pathogenicity: None; Publications: 34135477; Phenotypes: Nonsyndromic genetic hearing loss MONDO:0019497, MVD-related; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Mendeliome v0.10863 NDUFS8 Zornitza Stark Marked gene: NDUFS8 as ready
Mendeliome v0.10863 NDUFS8 Zornitza Stark Gene: ndufs8 has been classified as Green List (High Evidence).
Mendeliome v0.10863 NDUFS8 Zornitza Stark Phenotypes for gene: NDUFS8 were changed from to Mitochondrial complex I deficiency, nuclear type 2 MIM#618222
Mendeliome v0.10862 NDUFS8 Zornitza Stark Publications for gene: NDUFS8 were set to
Mendeliome v0.10861 NDUFS8 Zornitza Stark Mode of inheritance for gene: NDUFS8 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.10860 NDUFV1 Zornitza Stark Marked gene: NDUFV1 as ready
Mendeliome v0.10860 NDUFV1 Zornitza Stark Gene: ndufv1 has been classified as Green List (High Evidence).
Mendeliome v0.10860 NDUFV1 Zornitza Stark Phenotypes for gene: NDUFV1 were changed from to Mitochondrial complex I deficiency, nuclear type 4 MIM#618225
Mendeliome v0.10859 NDUFV1 Zornitza Stark Publications for gene: NDUFV1 were set to
Mendeliome v0.10858 NDUFV1 Zornitza Stark Mode of inheritance for gene: NDUFV1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.10857 FZR1 Alison Yeung Marked gene: FZR1 as ready
Mendeliome v0.10857 FZR1 Alison Yeung Gene: fzr1 has been classified as Green List (High Evidence).
Mendeliome v0.10857 FZR1 Alison Yeung Classified gene: FZR1 as Green List (high evidence)
Mendeliome v0.10857 FZR1 Alison Yeung Gene: fzr1 has been classified as Green List (High Evidence).
Mendeliome v0.10856 COL4A6 Zornitza Stark Classified gene: COL4A6 as Green List (high evidence)
Mendeliome v0.10856 COL4A6 Zornitza Stark Gene: col4a6 has been classified as Green List (High Evidence).
Mendeliome v0.10855 SEZ6 Alison Yeung Marked gene: SEZ6 as ready
Mendeliome v0.10855 SEZ6 Alison Yeung Gene: sez6 has been classified as Red List (Low Evidence).
Mendeliome v0.10855 SEZ6 Alison Yeung Classified gene: SEZ6 as Red List (low evidence)
Mendeliome v0.10855 SEZ6 Alison Yeung Gene: sez6 has been classified as Red List (Low Evidence).
Mendeliome v0.10854 ADAMTS1 Zornitza Stark Marked gene: ADAMTS1 as ready
Mendeliome v0.10854 ADAMTS1 Zornitza Stark Gene: adamts1 has been classified as Red List (Low Evidence).
Mendeliome v0.10854 ADAMTS1 Zornitza Stark Classified gene: ADAMTS1 as Red List (low evidence)
Mendeliome v0.10854 ADAMTS1 Zornitza Stark Gene: adamts1 has been classified as Red List (Low Evidence).
Mendeliome v0.10853 MPDZ Paul De Fazio reviewed gene: MPDZ: Rating: AMBER; Mode of pathogenicity: None; Publications: 34135477, 29026089; Phenotypes: Nonsyndromic genetic hearing loss MONDO:0019497, MPDZ-related; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Mendeliome v0.10853 DHDDS Zornitza Stark Publications for gene: DHDDS were set to 27343064; 29100083; 21295283
Mendeliome v0.10852 ITSN1 Zornitza Stark Phenotypes for gene: ITSN1 were changed from Nephrotic syndrome to Nephrotic syndrome; Neurodevelopmental disorder MONDO:0700092, ITSN1-related
Mendeliome v0.10851 ITSN1 Zornitza Stark Mode of inheritance for gene: ITSN1 was changed from BIALLELIC, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Mendeliome v0.10850 ATP5O Alison Yeung Marked gene: ATP5O as ready
Mendeliome v0.10850 ATP5O Alison Yeung Gene: atp5o has been classified as Red List (Low Evidence).
Mendeliome v0.10850 DHDDS Chern Lim reviewed gene: DHDDS: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 34382076; Phenotypes: ; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal; Current diagnostic: yes
Mendeliome v0.10850 ATP5O Alison Yeung Classified gene: ATP5O as Red List (low evidence)
Mendeliome v0.10850 ATP5O Alison Yeung Gene: atp5o has been classified as Red List (Low Evidence).
Mendeliome v0.10849 ITSN1 Ee Ming Wong reviewed gene: ITSN1: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 34707297; Phenotypes: neurodevelopmental disorder MONDO:0700092, ITSN1-related; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes
Mendeliome v0.10849 SEZ6 Paul De Fazio gene: SEZ6 was added
gene: SEZ6 was added to Mendeliome. Sources: Literature
Mode of inheritance for gene: SEZ6 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SEZ6 were set to 34135477
Phenotypes for gene: SEZ6 were set to Nonsyndromic genetic hearing loss MONDO:0019497, SEZ6-related
Review for gene: SEZ6 was set to RED
gene: SEZ6 was marked as current diagnostic
Added comment: Homozygous missense variant p.(Val698Ile) identified in 4 affected individuals from a single consanguineous Pakistani family by WES. 5 other genotyped unaffected individuals were heterozygous or homozygous wild-type. Variant is in gnomad (36 hets, 0 hom).

RNA expression studies show the gene is expressed in the mouse inner ear, but no functional studies were performed on the variant (in silico analysis only).
Sources: Literature
Mendeliome v0.10849 COL4A6 Lucy Spencer reviewed gene: COL4A6: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 33840813; Phenotypes: Hearing loss; Mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Mendeliome v0.10849 ATP5E Zornitza Stark Publications for gene: ATP5E were set to 20566710; 27626380; 20026007
Mendeliome v0.10848 ATP5E Zornitza Stark Classified gene: ATP5E as Green List (high evidence)
Mendeliome v0.10848 ATP5E Zornitza Stark Gene: atp5e has been classified as Green List (High Evidence).
Mendeliome v0.10847 OBSCN Ee Ming Wong reviewed gene: OBSCN: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 34957489; Phenotypes: Rhabdomyolysis MONDO:0005290, OBSCN-related; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Mendeliome v0.10847 RBL2 Alison Yeung Phenotypes for gene: RBL2 were changed from Severe motor and cognitive impairment; Intellectual disability; Brunet-Wagner neurodevelopmental syndrome, MIM# 619690 to Intellectual disability; Brunet-Wagner neurodevelopmental syndrome, MIM# 619690
Mendeliome v0.10846 ADAMTS1 Paul De Fazio gene: ADAMTS1 was added
gene: ADAMTS1 was added to Mendeliome. Sources: Literature
Mode of inheritance for gene: ADAMTS1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ADAMTS1 were set to 34135477
Phenotypes for gene: ADAMTS1 were set to Nonsyndromic genetic hearing loss MONDO:0019497, ADAMTS1-related
Review for gene: ADAMTS1 was set to RED
gene: ADAMTS1 was marked as current diagnostic
Added comment: Homozygous missense variant p.(Ser135Ala) identified in 3 affected siblings from a single consanguineous Pakistani family by WES. A fourth unaffected sibling was homozygous wild type. Variant is in gnomad (26 hets, 1 hom).

RNA expression studies show the gene is expressed in the mouse inner ear, but no functional studies were performed on the variant (in silico analysis only).
Sources: Literature
Mendeliome v0.10846 RBL2 Alison Yeung Classified gene: RBL2 as Green List (high evidence)
Mendeliome v0.10846 RBL2 Alison Yeung Gene: rbl2 has been classified as Green List (High Evidence).
Mendeliome v0.10845 RBL2 Alison Yeung Phenotypes for gene: RBL2 were changed from Intellectual disability to Severe motor and cognitive impairment; Intellectual disability; Brunet-Wagner neurodevelopmental syndrome, MIM# 619690
Mendeliome v0.10844 ATP5O Ain Roesley gene: ATP5O was added
gene: ATP5O was added to Mendeliome. Sources: Literature
Mode of inheritance for gene: ATP5O was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ATP5O were set to 34954817
Phenotypes for gene: ATP5O were set to mitochondrial disease, ATP5F1E-related MONDO:0044970
Penetrance for gene: ATP5O were set to Complete
Review for gene: ATP5O was set to RED
gene: ATP5O was marked as current diagnostic
Added comment: Now known as ATP5PO (HGNC)

1 compound het individual with dev delay, muscular hypotonia, ID, dystonia, seizures and neurologic regression
Sources: Literature
Mendeliome v0.10844 BAP1 Anna Ritchie changed review comment from: 11 de novo germline heterozygous missense BAP1 variants associated with a rare syndromic neurodevelopmental disorder. Functional analysis showed that most of the variants cannot rescue the consequences of BAP1 inactivation, suggesting a loss-of-function mechanism. All affected individuals harboring a de novo BAP1 variant had DD or ID (11/11) characterized notably by speech (11/ 11) and motor delay (6/11). Most of them had hypotonia (7/11), seizures (6/11), and abnormal behavior (8/10), including autism spectrum disorder, attention deficit hyperactivity disorder, and hypersensitivity. Almost all individuals showed dysmorphic facial features (10/11), and more than half (6/11) had skeletal mal- formations (involving the hands [4/11], feet [3/11], or spine [2/11],). Most of the individuals had growth failure (9/11), including four individuals with a very short stature.
Sources: Literature; to: 11 de novo germline heterozygous missense BAP1 variants associated with a rare syndromic neurodevelopmental disorder. Functional analysis showed that most of the variants cannot rescue the consequences of BAP1 inactivation, suggesting a loss-of-function mechanism. All affected individuals harboring a de novo BAP1 variant had DD or ID (11/11) characterized notably by speech (11/ 11) and motor delay (6/11). Most of them had hypotonia (7/11), seizures (6/11), and abnormal behavior (8/10), including autism spectrum disorder, attention deficit hyperactivity disorder, and hypersensitivity. Almost all individuals showed dysmorphic facial features (10/11), and more than half (6/11) had skeletal malformations (involving the hands [4/11], feet [3/11], or spine [2/11]). Most of the individuals had growth failure (9/11), including four individuals with a very short stature.
Sources: Literature
Mendeliome v0.10844 ATP5E Ain Roesley reviewed gene: ATP5E: Rating: GREEN; Mode of pathogenicity: None; Publications: 34954817; Phenotypes: Mitochondrial complex V (ATP synthase) deficiency, nuclear type 3 MIM#614053; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Mendeliome v0.10844 BAP1 Anna Ritchie changed review comment from: 11 de novo germline heterozygous missense BAP1 variants associated with a rare syndromic neurodevelopmental disorder. Functional analysis showed that most of the variants cannot rescue the consequences of BAP1 inactivation, suggesting a loss-of-function mechanism. Patients phenotypes also included developmental delay, speech and motor delay, seizures, hypotonia, abnormal behaviour, autism, attention deficit hyperactivity disorder, and hypersensitivity.
Sources: Literature; to: 11 de novo germline heterozygous missense BAP1 variants associated with a rare syndromic neurodevelopmental disorder. Functional analysis showed that most of the variants cannot rescue the consequences of BAP1 inactivation, suggesting a loss-of-function mechanism. All affected individuals harboring a de novo BAP1 variant had DD or ID (11/11) characterized notably by speech (11/ 11) and motor delay (6/11). Most of them had hypotonia (7/11), seizures (6/11), and abnormal behavior (8/10), including autism spectrum disorder, attention deficit hyperactivity disorder, and hypersensitivity. Almost all individuals showed dysmorphic facial features (10/11), and more than half (6/11) had skeletal mal- formations (involving the hands [4/11], feet [3/11], or spine [2/11],). Most of the individuals had growth failure (9/11), including four individuals with a very short stature.
Sources: Literature
Mendeliome v0.10844 TMEM53 Zornitza Stark Marked gene: TMEM53 as ready
Mendeliome v0.10844 TMEM53 Zornitza Stark Gene: tmem53 has been classified as Green List (High Evidence).
Mendeliome v0.10844 TMEM53 Zornitza Stark Classified gene: TMEM53 as Green List (high evidence)
Mendeliome v0.10844 TMEM53 Zornitza Stark Gene: tmem53 has been classified as Green List (High Evidence).
Mendeliome v0.10843 TMEM53 Zornitza Stark Phenotypes for gene: TMEM53 were changed from Sclerosing bone disorder, macrocephaly, impaired vision, short stature to Primary bone dysplasia MONDO:0018230, TMEM53-related; Sclerosing bone disorder, macrocephaly, impaired vision, short stature
Mendeliome v0.10842 MAN2C1 Alison Yeung Marked gene: MAN2C1 as ready
Mendeliome v0.10842 MAN2C1 Alison Yeung Gene: man2c1 has been classified as Green List (High Evidence).
Mendeliome v0.10842 MAN2C1 Alison Yeung Phenotypes for gene: MAN2C1 were changed from neurodevelopmental disorder MONDO:0700092 MAN2C1-related to neurodevelopmental disorder, MAN2C1-related, MONDO:0700092
Mendeliome v0.10841 MAN2C1 Alison Yeung Classified gene: MAN2C1 as Green List (high evidence)
Mendeliome v0.10841 MAN2C1 Alison Yeung Gene: man2c1 has been classified as Green List (High Evidence).
Mendeliome v0.10840 SLC38A3 Zornitza Stark Marked gene: SLC38A3 as ready
Mendeliome v0.10840 SLC38A3 Zornitza Stark Gene: slc38a3 has been classified as Green List (High Evidence).
Mendeliome v0.10840 SLC38A3 Zornitza Stark Phenotypes for gene: SLC38A3 were changed from developmental epileptic encephalopathy, SLC38A3-related MONDO:0100062 to Developmental epileptic encephalopathy MONDO:0100062, SLC38A3-related
Mendeliome v0.10839 SLC38A3 Zornitza Stark Classified gene: SLC38A3 as Green List (high evidence)
Mendeliome v0.10839 SLC38A3 Zornitza Stark Gene: slc38a3 has been classified as Green List (High Evidence).
Mendeliome v0.10838 BAP1 Anna Ritchie gene: BAP1 was added
gene: BAP1 was added to Mendeliome. Sources: Literature
Mode of inheritance for gene: BAP1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: BAP1 were set to PMID: 35051358
Phenotypes for gene: BAP1 were set to syndromic intellectual disability MONDO:0000508
Penetrance for gene: BAP1 were set to unknown
Review for gene: BAP1 was set to GREEN
Added comment: 11 de novo germline heterozygous missense BAP1 variants associated with a rare syndromic neurodevelopmental disorder. Functional analysis showed that most of the variants cannot rescue the consequences of BAP1 inactivation, suggesting a loss-of-function mechanism. Patients phenotypes also included developmental delay, speech and motor delay, seizures, hypotonia, abnormal behaviour, autism, attention deficit hyperactivity disorder, and hypersensitivity.
Sources: Literature
Mendeliome v0.10838 ARSK Zornitza Stark Marked gene: ARSK as ready
Mendeliome v0.10838 ARSK Zornitza Stark Gene: arsk has been classified as Green List (High Evidence).
Mendeliome v0.10838 ARSK Zornitza Stark Phenotypes for gene: ARSK were changed from Mucopolysaccharidosis to Mucopolysaccharidosis MONDO:0019249, ARSK-related
Mendeliome v0.10837 ARSK Zornitza Stark Classified gene: ARSK as Green List (high evidence)
Mendeliome v0.10837 ARSK Zornitza Stark Gene: arsk has been classified as Green List (High Evidence).
Mendeliome v0.10836 RBL2 Elena Savva reviewed gene: RBL2: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 33980986, 32105419, 9806916; Phenotypes: Severe motor and cognitive impairment, Intellectual disability, Brunet-Wagner neurodevelopmental syndrome MIM#619690; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.10836 SLC38A3 Ain Roesley changed review comment from: 7 families 6 of whom are consanguineous but unique variants in all of them

Acquired microcephaly noted (8/10 with <-2 SD, 5/10 <-3 SD)

10/10 with axial hopotonia, absent speech, GDD/ID
9/10 with visual impairment
8/10 with seizures
8/10 with peripheral hypertonia
Sources: Literature; to: 7 families 6 of whom are consanguineous but unique variants in all of them

Acquired microcephaly noted (8/10 with >-2 SD, 5/10 >-3 SD)

10/10 with axial hopotonia, absent speech, GDD/ID
9/10 with visual impairment
8/10 with seizures
8/10 with peripheral hypertonia
Sources: Literature
Mendeliome v0.10836 TMEM53 Lucy Spencer gene: TMEM53 was added
gene: TMEM53 was added to Mendeliome. Sources: Literature
Mode of inheritance for gene: TMEM53 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: TMEM53 were set to PMID: 33824347
Phenotypes for gene: TMEM53 were set to Sclerosing bone disorder, macrocephaly, impaired vision, short stature
Review for gene: TMEM53 was set to GREEN
Added comment: PMID: 33824347- Previously unknown type of sclerosing bone disorder in 4 independent families, bi-allelic LOF variants in TMEM53. 5 individuals from 4 families, all have proportional or short limbed stature, not identifiable at birth. Head deformities (macrocephaly, dolichocephaly, prominent forehead), epicanthic folds, thick vermilion of upper and lower lips. Vision diminished after early childhood due to optic nerve compression.

3 of 4 families confirmed consanguineous, and all affected members from all 4 families have homozygous variants inherited from heterozygous parents. 3 families have the same splicing variant proven to cause exon 2 skipping and an NMD frameshift by RT-PCR. The other family has a an NMD frameshift variant. So 4 families but only 2 variants.
Sources: Literature
Mendeliome v0.10836 SLC38A3 Ain Roesley gene: SLC38A3 was added
gene: SLC38A3 was added to Mendeliome. Sources: Literature
Mode of inheritance for gene: SLC38A3 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SLC38A3 were set to 34605855
Phenotypes for gene: SLC38A3 were set to developmental epileptic encephalopathy, SLC38A3-related MONDO:0100062
Review for gene: SLC38A3 was set to GREEN
gene: SLC38A3 was marked as current diagnostic
Added comment: 7 families 6 of whom are consanguineous but unique variants in all of them

Acquired microcephaly noted (8/10 with <-2 SD, 5/10 <-3 SD)

10/10 with axial hopotonia, absent speech, GDD/ID
9/10 with visual impairment
8/10 with seizures
8/10 with peripheral hypertonia
Sources: Literature
Mendeliome v0.10836 FZR1 Alison Yeung gene: FZR1 was added
gene: FZR1 was added to Mendeliome. Sources: Literature
Mode of inheritance for gene: FZR1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: FZR1 were set to 34788397
Phenotypes for gene: FZR1 were set to Developmental and epileptic encephalopathy, FZR1-related, MONDO:0100062
Review for gene: FZR1 was set to GREEN
Added comment: >3 unrelated individuals reported with de novo missense variants. Functional studies in Drosophila demonstrate missense variants cause LOF.
Sources: Literature
Mendeliome v0.10835 MAN2C1 Michelle Torres gene: MAN2C1 was added
gene: MAN2C1 was added to Mendeliome. Sources: Literature
Mode of inheritance for gene: MAN2C1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: MAN2C1 were set to 35045343
Phenotypes for gene: MAN2C1 were set to neurodevelopmental disorder MONDO:0700092 MAN2C1-related
Review for gene: MAN2C1 was set to GREEN
Added comment: Six individuals from four different families, including two fetuses, exhibiting dysmorphic facial features, congenital anomalies such as tongue hamartoma, variable degrees of intellectual disability, and brain anomalies including polymicrogyria, interhemispheric cysts, hypothalamic hamartoma, callosal anomalies, and hypoplasia of brainstem and cerebellar vermis. Variants include PTC and missense.
Sources: Literature
Mendeliome v0.10835 ARSK Paul De Fazio gene: ARSK was added
gene: ARSK was added to Mendeliome. Sources: Literature
Mode of inheritance for gene: ARSK was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ARSK were set to 34916232; 32856704
Phenotypes for gene: ARSK were set to Mucopolysaccharidosis
Review for gene: ARSK was set to GREEN
gene: ARSK was marked as current diagnostic
Added comment: 4 individuals from 2 unrelated consanguineous families (Turkish and Indian) reported with a homozygous missense and an NMD-predicted nonsense variant. Affected individuals had features of mucopolysaccharidosis such as short stature, coarse facial features and dysostosis multiplex. Urinary GAG excretion was normal by conventional methods, but LC-MS/MS in 2 individuals revealed an increase in specific dermatan sulfate-derived disaccharides. Functional studies showed reduced protein levels and reduced enzyme activity for the nonsense and missense variant respectively.

A mouse model also shows a mucopolysaccharidosis phenotype, albeit milder.

Rated green (2 families, functional evidence, mouse model).
Sources: Literature
Mendeliome v0.10835 FRA10AC1 Zornitza Stark changed review comment from: Conclusion of this study was that FRA10A is likely a benign folate-sensitive fragile site.; to: PMID 15203205: Conclusion of this study was that FRA10A is likely a benign folate-sensitive fragile site.
Mendeliome v0.10835 FRA10AC1 Zornitza Stark edited their review of gene: FRA10AC1: Added comment: PMID 34694367: 5 individuals from 3 unrelated families reported.

Variable ID, possibly related to variant type with LoF variants associated with more severe ID. All individuals had microcephaly, hypoplasia or agenesis of the corpus callosum, growth retardation, and craniofacial dysmorphism.; Changed rating: GREEN; Changed publications: 15203205, 34694367; Changed phenotypes: Neurodevelopmental disorder, MONDO:0700092, FRA10AC1-related; Changed mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.10835 NDUFS7 Zornitza Stark Marked gene: NDUFS7 as ready
Mendeliome v0.10835 NDUFS7 Zornitza Stark Gene: ndufs7 has been classified as Green List (High Evidence).
Mendeliome v0.10835 NDUFS7 Zornitza Stark Phenotypes for gene: NDUFS7 were changed from to Mitochondrial complex I deficiency, nuclear type 3 MIM#618224
Mendeliome v0.10834 NDUFS7 Zornitza Stark Publications for gene: NDUFS7 were set to
Mendeliome v0.10833 NDUFS7 Zornitza Stark Mode of inheritance for gene: NDUFS7 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.10832 NDUFA1 Zornitza Stark Marked gene: NDUFA1 as ready
Mendeliome v0.10832 NDUFA1 Zornitza Stark Gene: ndufa1 has been classified as Green List (High Evidence).
Mendeliome v0.10832 NDUFA1 Zornitza Stark Phenotypes for gene: NDUFA1 were changed from to Mitochondrial complex I deficiency, nuclear type 12 MIM#301020
Mendeliome v0.10831 NDUFA1 Zornitza Stark Publications for gene: NDUFA1 were set to
Mendeliome v0.10830 NDUFA1 Zornitza Stark Mode of inheritance for gene: NDUFA1 was changed from Unknown to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Mendeliome v0.10829 MYO5A Zornitza Stark Marked gene: MYO5A as ready
Mendeliome v0.10829 MYO5A Zornitza Stark Gene: myo5a has been classified as Green List (High Evidence).
Mendeliome v0.10829 MYO5A Zornitza Stark Phenotypes for gene: MYO5A were changed from to Griscelli syndrome, type 1 MIM#214450
Mendeliome v0.10828 MYO5A Zornitza Stark Mode of inheritance for gene: MYO5A was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.10827 MYO5A Zornitza Stark Publications for gene: MYO5A were set to
Mendeliome v0.10826 LRPPRC Zornitza Stark Marked gene: LRPPRC as ready
Mendeliome v0.10826 LRPPRC Zornitza Stark Gene: lrpprc has been classified as Green List (High Evidence).
Mendeliome v0.10826 LRPPRC Zornitza Stark Phenotypes for gene: LRPPRC were changed from to Mitochondrial complex IV deficiency, nuclear type 5, (French-Canadian) MIM#220111
Mendeliome v0.10825 LRPPRC Zornitza Stark Publications for gene: LRPPRC were set to
Mendeliome v0.10824 LRPPRC Zornitza Stark Mode of inheritance for gene: LRPPRC was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.10823 LRPPRC Zornitza Stark reviewed gene: LRPPRC: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Mitochondrial complex IV deficiency, nuclear type 5, (French-Canadian) MIM#220111; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.10823 PLCD1 Paul De Fazio reviewed gene: PLCD1: Rating: GREEN; Mode of pathogenicity: None; Publications: 21665001, 22458588, 21665001, 30003652, 33786625, 31082376, 32265483, 31049339; Phenotypes: Nail disorder, nonsyndromic congenital, 3, (leukonychia) MIM#151600, nonsyndromic congenital nail disorder 3 MONDO:0007900; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal; Current diagnostic: yes
Mendeliome v0.10823 AKAP10 Paul De Fazio reviewed gene: AKAP10: Rating: RED; Mode of pathogenicity: None; Publications: 12646697, 17485678; Phenotypes: {Cardiac conduction defect, susceptibility to} MIM#115080, sudden cardiac arrest MONDO:0007264; Mode of inheritance: Unknown; Current diagnostic: yes
Mendeliome v0.10823 HMCN1 Paul De Fazio reviewed gene: HMCN1: Rating: RED; Mode of pathogenicity: None; Publications: 25986072, 16020313, 14570714, 27007659; Phenotypes: {Macular degeneration, age-related, 1} MIM#603075, age related macular degeneration 1 MONDO:0011285; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown; Current diagnostic: yes
Mendeliome v0.10823 CCND1 Paul De Fazio reviewed gene: CCND1: Rating: RED; Mode of pathogenicity: None; Publications: 12097293, 23502783, 21131975, 14657069, 23540573, 20633772; Phenotypes: {Colorectal cancer, susceptibility to} MIM#114500, {Multiple myeloma, susceptibility to} MIM#254500, {von Hippel-Lindau syndrome, modifier of} MIM#193300; Mode of inheritance: Unknown; Current diagnostic: yes
Mendeliome v0.10823 PADI4 Paul De Fazio reviewed gene: PADI4: Rating: RED; Mode of pathogenicity: None; Publications: 16449362, 19470526, 26474773; Phenotypes: Susceptibility to rheumatoid arthritis; Mode of inheritance: Unknown; Current diagnostic: yes
Mendeliome v0.10823 PLCB1 Zornitza Stark Marked gene: PLCB1 as ready
Mendeliome v0.10823 PLCB1 Zornitza Stark Gene: plcb1 has been classified as Green List (High Evidence).
Mendeliome v0.10823 PLCB1 Zornitza Stark Phenotypes for gene: PLCB1 were changed from to Epileptic encephalopathy, early infantile, 12 (MIM#613722)
Mendeliome v0.10822 PLCB1 Zornitza Stark Publications for gene: PLCB1 were set to
Mendeliome v0.10821 PLCB1 Zornitza Stark Mode of inheritance for gene: PLCB1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.10820 PLCB1 Zornitza Stark Tag SV/CNV tag was added to gene: PLCB1.
Mendeliome v0.10820 PLCB1 Zornitza Stark reviewed gene: PLCB1: Rating: GREEN; Mode of pathogenicity: None; Publications: 24684524, 20833646, 22690784, 26818157; Phenotypes: Epileptic encephalopathy, early infantile, 12 (MIM#613722); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.10820 PLAA Zornitza Stark Marked gene: PLAA as ready
Mendeliome v0.10820 PLAA Zornitza Stark Gene: plaa has been classified as Green List (High Evidence).
Mendeliome v0.10820 PLAA Zornitza Stark Phenotypes for gene: PLAA were changed from to Neurodevelopmental disorder with progressive microcephaly, spasticity, and brain anomalies, MIM# 617527
Mendeliome v0.10819 PLAA Zornitza Stark Publications for gene: PLAA were set to
Mendeliome v0.10818 PLAA Zornitza Stark Mode of inheritance for gene: PLAA was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.10817 PLAA Zornitza Stark reviewed gene: PLAA: Rating: GREEN; Mode of pathogenicity: None; Publications: 28007986, 28413018, 31322726; Phenotypes: Neurodevelopmental disorder with progressive microcephaly, spasticity, and brain anomalies, MIM# 617527; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.10817 PGAP1 Zornitza Stark Marked gene: PGAP1 as ready
Mendeliome v0.10817 PGAP1 Zornitza Stark Gene: pgap1 has been classified as Green List (High Evidence).
Mendeliome v0.10817 PGAP1 Zornitza Stark Phenotypes for gene: PGAP1 were changed from to Neurodevelopmental disorder with dysmorphic features, spasticity, and brain abnormalities, MIM# 615802
Mendeliome v0.10816 PGAP1 Zornitza Stark Publications for gene: PGAP1 were set to
Mendeliome v0.10815 PGAP1 Zornitza Stark Mode of inheritance for gene: PGAP1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.10814 PGAP1 Zornitza Stark reviewed gene: PGAP1: Rating: GREEN; Mode of pathogenicity: None; Publications: 24482476, 24784135, 25823418, 25804403, 26050939; Phenotypes: Neurodevelopmental disorder with dysmorphic features, spasticity, and brain abnormalities, MIM# 615802; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.10814 KCNN2 Zornitza Stark Phenotypes for gene: KCNN2 were changed from Neurodevelopmental movement disorders; Developmental Delay; Seizures to Neurodevelopmental disorder with or without variable movement or behavioural abnormalities, MIM#619725
Mendeliome v0.10813 KCNN2 Zornitza Stark edited their review of gene: KCNN2: Changed phenotypes: Neurodevelopmental disorder with or without variable movement or behavioural abnormalities, MIM#619725
Mendeliome v0.10813 KCNN2 Zornitza Stark reviewed gene: KCNN2: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Neurodevelopmental disorder with or without variable movement or behavioral abnormalities, MIM#619725; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.10813 PDSS2 Ain Roesley reviewed gene: PDSS2: Rating: GREEN; Mode of pathogenicity: None; Publications: 29032433, 25349199, 17186472, 21723727, 10972372; Phenotypes: Coenzyme Q10 deficiency, primary, 3 MIM#614652; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Mendeliome v0.10813 NAA20 Zornitza Stark Phenotypes for gene: NAA20 were changed from Intellectual disability; Microcephaly; Neurodevelopmental disorder MONDO:0700092 to Intellectual developmental disorder, autosomal recessive 73, MIM# 619717
Mendeliome v0.10812 NAA20 Zornitza Stark edited their review of gene: NAA20: Changed phenotypes: Intellectual developmental disorder, autosomal recessive 73, MIM# 619717
Mendeliome v0.10812 PDHX Ain Roesley edited their review of gene: PDHX: Changed rating: GREEN
Mendeliome v0.10812 PDHX Ain Roesley changed review comment from: >10 unrelated probands reported

PDHX c.1336C>T (p.Arg446Ter) is a Roma founder variant; c.1182+2T>C (p.Ile386SerfsTer13) is a Moroccan founder variant.; to: established gene-disease association

PDHX c.1336C>T (p.Arg446Ter) is a Roma founder variant; c.1182+2T>C (p.Ile386SerfsTer13) is a Moroccan founder variant.
Mendeliome v0.10812 PDHX Ain Roesley reviewed gene: PDHX: Rating: ; Mode of pathogenicity: None; Publications: 20002125, 34873726, 33092611, 30981218, 25087164, 22766002; Phenotypes: Lacticacidemia due to PDX1 deficiency MIM#245349; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Mendeliome v0.10812 NDUFV1 Ain Roesley reviewed gene: NDUFV1: Rating: GREEN; Mode of pathogenicity: None; Publications: 34807224; Phenotypes: Mitochondrial complex I deficiency, nuclear type 4 MIM#618225; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Mendeliome v0.10812 NDUFS8 Ain Roesley reviewed gene: NDUFS8: Rating: GREEN; Mode of pathogenicity: None; Publications: 23430795, 9837812, 15159508, 22499348, 20818383, 20819849; Phenotypes: Mitochondrial complex I deficiency, nuclear type 2 MIM#618222; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Mendeliome v0.10812 NDUFS7 Ain Roesley reviewed gene: NDUFS7: Rating: GREEN; Mode of pathogenicity: None; Publications: 17604671, 17275378, 10360771; Phenotypes: Mitochondrial complex I deficiency, nuclear type 3 MIM#618224; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Mendeliome v0.10812 NDUFAF5 Ain Roesley reviewed gene: NDUFAF5: Rating: GREEN; Mode of pathogenicity: None; Publications: 34797029; Phenotypes: Mitochondrial complex I deficiency, nuclear type 3 MIM#618224; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Mendeliome v0.10812 NDUFS7 Ain Roesley Deleted their review
Mendeliome v0.10812 NDUFS7 Ain Roesley Deleted their comment
Mendeliome v0.10812 NDUFS7 Ain Roesley reviewed gene: NDUFS7: Rating: GREEN; Mode of pathogenicity: None; Publications: 34797029; Phenotypes: Mitochondrial complex I deficiency, nuclear type 3 MIM#618224; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Mendeliome v0.10812 NDUFA1 Ain Roesley reviewed gene: NDUFA1: Rating: GREEN; Mode of pathogenicity: None; Publications: 29506883, 19185523, 17262856, 21596602; Phenotypes: Mitochondrial complex I deficiency, nuclear type 12 MIM#301020; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females; Current diagnostic: yes
Mendeliome v0.10812 MYO5A Ain Roesley reviewed gene: MYO5A: Rating: GREEN; Mode of pathogenicity: None; Publications: 32275080, 22711375, 25283056; Phenotypes: Griscelli syndrome, type 1 MIM#214450; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Mendeliome v0.10812 LRPPRC Ain Roesley changed review comment from: Established gene-disease association; to: Established gene-disease association

Onset in infancy and death usually occurs by age 2 years
Mendeliome v0.10812 LRPPRC Ain Roesley reviewed gene: LRPPRC: Rating: GREEN; Mode of pathogenicity: None; Publications: 32972427, 26510951, 21266382; Phenotypes: Mitochondrial complex IV deficiency, nuclear type 5, (French-Canadian) MIM#220111; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Mendeliome v0.10812 LEMD3 Ain Roesley reviewed gene: LEMD3: Rating: GREEN; Mode of pathogenicity: None; Publications: 34098227, 33598273, 32519343, 32151766, 32151766; Phenotypes: Buschke-Ollendorff syndrome MIM#166700, Osteopoikilosis with or without melorheostosis MIM#166700; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes
Mendeliome v0.10812 MGP Zornitza Stark Marked gene: MGP as ready
Mendeliome v0.10812 MGP Zornitza Stark Gene: mgp has been classified as Green List (High Evidence).
Mendeliome v0.10812 MGP Zornitza Stark Phenotypes for gene: MGP were changed from to Keutel syndrome, MIM #245150
Mendeliome v0.10811 MGP Zornitza Stark Publications for gene: MGP were set to
Mendeliome v0.10810 MGP Zornitza Stark Mode of inheritance for gene: MGP was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.10809 MGP Zornitza Stark reviewed gene: MGP: Rating: GREEN; Mode of pathogenicity: None; Publications: 9916809, 15810001, 33996798; Phenotypes: Keutel syndrome, MIM #245150; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.10809 SHANK1 Zornitza Stark Phenotypes for gene: SHANK1 were changed from Neurodevelopmental disorder, no OMIM# to Neurodevelopmental disorder, MONDO:0700092, SHANK1-related
Mendeliome v0.10808 SHANK1 Zornitza Stark edited their review of gene: SHANK1: Changed phenotypes: Neurodevelopmental disorder, MONDO:0700092, SHANK1-related
Mendeliome v0.10808 ABCC9 Zornitza Stark Phenotypes for gene: ABCC9 were changed from Hypertrichotic osteochondrodysplasia, MIM# 239850; Cantu syndrome; mild ID, similar facies, myopathy, cerebral white matter hyperintensities; cardiac systolic dysfunction to Hypertrichotic osteochondrodysplasia, MIM# 239850; Cantu syndrome; Intellectual disability and myopathy syndrome, MIM# 619719
Mendeliome v0.10807 ABCC9 Zornitza Stark Mode of inheritance for gene: ABCC9 was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Mendeliome v0.10806 ABCC9 Zornitza Stark edited their review of gene: ABCC9: Changed phenotypes: Hypertrichotic osteochondrodysplasia, MIM# 239850, Cantu syndrome, Intellectual disability and myopathy syndrome, MIM# 619719
Mendeliome v0.10806 ACP5 Zornitza Stark Phenotypes for gene: ACP5 were changed from to Spondyloenchondrodysplasia with immune dysregulation, OMIM# 607944
Mendeliome v0.10805 ACP5 Zornitza Stark Publications for gene: ACP5 were set to
Mendeliome v0.10804 ACP5 Zornitza Stark Mode of inheritance for gene: ACP5 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.10803 ACP2 Zornitza Stark Phenotypes for gene: ACP2 were changed from to Lysosomal acid phosphatase deficiency, MIM# 200950
Mendeliome v0.10802 ACP2 Zornitza Stark Publications for gene: ACP2 were set to
Mendeliome v0.10801 ACP2 Zornitza Stark Mode of inheritance for gene: ACP2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.10800 PIK3R5 Zornitza Stark Marked gene: PIK3R5 as ready
Mendeliome v0.10800 PIK3R5 Zornitza Stark Gene: pik3r5 has been classified as Red List (Low Evidence).
Mendeliome v0.10800 PIK3R5 Zornitza Stark Phenotypes for gene: PIK3R5 were changed from to Ataxia-oculomotor apraxia 3, OMIM #615217
Mendeliome v0.10799 PIK3R5 Zornitza Stark Publications for gene: PIK3R5 were set to
Mendeliome v0.10798 PIK3R5 Zornitza Stark Mode of inheritance for gene: PIK3R5 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.10797 PIK3R5 Zornitza Stark Classified gene: PIK3R5 as Red List (low evidence)
Mendeliome v0.10797 PIK3R5 Zornitza Stark Gene: pik3r5 has been classified as Red List (Low Evidence).
Mendeliome v0.10796 PIK3R5 Zornitza Stark reviewed gene: PIK3R5: Rating: RED; Mode of pathogenicity: None; Publications: 22065524; Phenotypes: Ataxia-oculomotor apraxia 3, OMIM #615217; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.10796 KIF26B Zornitza Stark Marked gene: KIF26B as ready
Mendeliome v0.10796 KIF26B Zornitza Stark Gene: kif26b has been classified as Red List (Low Evidence).
Mendeliome v0.10796 KIF26B Zornitza Stark gene: KIF26B was added
gene: KIF26B was added to Mendeliome. Sources: Expert Review
Mode of inheritance for gene: KIF26B was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: KIF26B were set to 30151950
Phenotypes for gene: KIF26B were set to Progressive microcephaly, pontocerebellar hypoplasia, and arthrogryposis
Review for gene: KIF26B was set to RED
Added comment: 1 report only of infant with progressive microcephaly, pontocerebellar hypoplasia, and arthrogryposis secondary to the involvement of anterior horn cells and ventral (motor) nerves. Whole exome sequencing on the trio identified a de novo KIF26B missense variant (p.Gly546Ser). Functional analysis of the variant protein in cultured cells revealed a reduction in the KIF26B protein's ability to promote cell adhesion, a defect that potentially contributes to its pathogenicity.
Sources: Expert Review
Mendeliome v0.10795 ACP5 Alison Yeung Marked gene: ACP5 as ready
Mendeliome v0.10795 ACP5 Alison Yeung Gene: acp5 has been classified as Green List (High Evidence).
Mendeliome v0.10795 ACP5 Alison Yeung reviewed gene: ACP5: Rating: GREEN; Mode of pathogenicity: None; Publications: 26854080, 26951490, 21217755, 26789720, 2363422, 21217752; Phenotypes: spondyloenchondrodysplasia with immune dysregulation, OMIM# 607944; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Mendeliome v0.10795 ACP2 Alison Yeung Marked gene: ACP2 as ready
Mendeliome v0.10795 ACP2 Alison Yeung Gene: acp2 has been classified as Red List (Low Evidence).
Mendeliome v0.10795 ACP2 Alison Yeung Classified gene: ACP2 as Red List (low evidence)
Mendeliome v0.10795 ACP2 Alison Yeung Gene: acp2 has been classified as Red List (Low Evidence).
Mendeliome v0.10794 ACP2 Alison Yeung reviewed gene: ACP2: Rating: RED; Mode of pathogenicity: None; Publications: 5410815; Phenotypes: Lysosomal acid phosphatase deficiency, OMIM# 200950; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.10794 CHP1 Zornitza Stark Marked gene: CHP1 as ready
Mendeliome v0.10794 CHP1 Zornitza Stark Gene: chp1 has been classified as Green List (High Evidence).
Mendeliome v0.10794 CHP1 Zornitza Stark Classified gene: CHP1 as Green List (high evidence)
Mendeliome v0.10794 CHP1 Zornitza Stark Gene: chp1 has been classified as Green List (High Evidence).
Mendeliome v0.10793 CHP1 Zornitza Stark gene: CHP1 was added
gene: CHP1 was added to Mendeliome. Sources: Expert Review
Mode of inheritance for gene: CHP1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: CHP1 were set to 29379881; 32787936
Phenotypes for gene: CHP1 were set to Spastic ataxia 9, autosomal recessive, MIM #618438
Review for gene: CHP1 was set to GREEN
Added comment: 2 different consanguineous families with 2 affected siblings with ataxia (1 paediatric onset, 1 adult onset). 3 of the patients had cerebellar atrophy. WES identified homozygous variants in CHP1 gene in both families (K19del and Arg91Cys), which segregated with the disorder in the family.

Decreased CHP1 protein on IHC of cerebellar tissue in family with Arg91Cys variant. In vitro functional expression studies in HEK293 cells showed that the K19del mutation resulted in decreased protein expression, with normal levels of transcript, suggesting defects in protein stability. The mutant protein formed massive protein aggregates in transfected neuronal cell bodies and neurite-like projections, whereas the wildtype protein showed a more uniform distribution. The mutant protein altered CHP1 association into functional complexes and impaired membrane localization of the Na+/H+ transporter NHE1. The findings indicated that the CHP1 mutation likely causes ataxia in an NHE1-dependent manner, resembling the mechanism observed in the Chp1 vacillator mutant mouse.
Sources: Expert Review
Mendeliome v0.10792 PI4KA Zornitza Stark Phenotypes for gene: PI4KA were changed from Polymicrogyria, perisylvian, with cerebellar hypoplasia and arthrogryposis, MIM# 616531; Neurodevelopmental syndrome with hypomyelinating leukodystrophy; Spastic paraplegia 84, autosomal recessive, MIM# 619621 to Polymicrogyria, perisylvian, with cerebellar hypoplasia and arthrogryposis, MIM# 616531; Neurodevelopmental syndrome with hypomyelinating leukodystrophy; Spastic paraplegia 84, autosomal recessive, MIM# 619621; Gastrointestinal defects and immunodeficiency syndrome 2, MIM# 619708
Mendeliome v0.10791 PI4KA Zornitza Stark edited their review of gene: PI4KA: Changed phenotypes: Polymicrogyria, perisylvian, with cerebellar hypoplasia and arthrogryposis, MIM# 616531, Neurodevelopmental syndrome with hypomyelinating leukodystrophy, Spastic paraplegia 84, autosomal recessive, MIM# 619621, Gastrointestinal defects and immunodeficiency syndrome 2, MIM# 619708
Mendeliome v0.10791 FNIP1 Zornitza Stark Phenotypes for gene: FNIP1 were changed from Hypertrophic Cardiomyopathy; Primary Immunodeficiency; Agammaglobulinemia; Neutropenia to Immunodeficiency 93 and hypertrophic cardiomyopathy, MIM# 619705
Mendeliome v0.10790 FNIP1 Zornitza Stark reviewed gene: FNIP1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Immunodeficiency 93 and hypertrophic cardiomyopathy, MIM# 619705; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.10790 TCF12 Zornitza Stark Phenotypes for gene: TCF12 were changed from Craniosynostosis 3, MIM# 615314; Kallman syndrome to Craniosynostosis 3, MIM# 615314; Hypogonadotropic hypogonadism 26 with or without anosmia, MIM# 619718; Kallman syndrome
Mendeliome v0.10789 TCF12 Zornitza Stark edited their review of gene: TCF12: Changed phenotypes: Craniosynostosis 3, MIM# 615314, Hypogonadotropic hypogonadism 26 with or without anosmia, MIM# 619718, Kallman syndrome
Mendeliome v0.10789 SPI1 Zornitza Stark Phenotypes for gene: SPI1 were changed from Agammaglobulinaemia to Agammaglobulinaemia 10, autosomal dominant, MIM# 619707
Mendeliome v0.10788 SPI1 Zornitza Stark edited their review of gene: SPI1: Changed phenotypes: Agammaglobulinaemia 10, autosomal dominant, MIM# 619707
Mendeliome v0.10788 CYS1 Zornitza Stark Marked gene: CYS1 as ready
Mendeliome v0.10788 CYS1 Zornitza Stark Gene: cys1 has been classified as Amber List (Moderate Evidence).
Mendeliome v0.10788 CYS1 Zornitza Stark Classified gene: CYS1 as Amber List (moderate evidence)
Mendeliome v0.10788 CYS1 Zornitza Stark Gene: cys1 has been classified as Amber List (Moderate Evidence).
Mendeliome v0.10787 CYS1 Zornitza Stark gene: CYS1 was added
gene: CYS1 was added to Mendeliome. Sources: Literature
Mode of inheritance for gene: CYS1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: CYS1 were set to 34521872
Phenotypes for gene: CYS1 were set to Polycystic kidney disease, MONDO:0020642
Review for gene: CYS1 was set to AMBER
Added comment: Single family reported. However, extensive experimental data, including mouse model.
Sources: Literature
Mendeliome v0.10786 KIF1B Zornitza Stark Classified gene: KIF1B as Red List (low evidence)
Mendeliome v0.10786 KIF1B Zornitza Stark Gene: kif1b has been classified as Red List (Low Evidence).
Mendeliome v0.10785 KIF1B Zornitza Stark edited their review of gene: KIF1B: Added comment: Limited for both phenotypes.; Changed rating: RED
Mendeliome v0.10785 CAMK2G Zornitza Stark Marked gene: CAMK2G as ready
Mendeliome v0.10785 CAMK2G Zornitza Stark Gene: camk2g has been classified as Amber List (Moderate Evidence).
Mendeliome v0.10785 CAMK2G Zornitza Stark Classified gene: CAMK2G as Amber List (moderate evidence)
Mendeliome v0.10785 CAMK2G Zornitza Stark Gene: camk2g has been classified as Amber List (Moderate Evidence).
Mendeliome v0.10784 CAMK2G Zornitza Stark gene: CAMK2G was added
gene: CAMK2G was added to Mendeliome. Sources: Expert Review
Mode of inheritance for gene: CAMK2G was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: CAMK2G were set to 30184290; 23033978
Phenotypes for gene: CAMK2G were set to Mental retardation, autosomal dominant 59, MIM# 618522
Review for gene: CAMK2G was set to AMBER
Added comment: Two unrelated individuals reported with de novo (p.Arg292Pro) variant. Functional data suggests GoF.
Sources: Expert Review
Mendeliome v0.10783 CSNK2B Zornitza Stark Marked gene: CSNK2B as ready
Mendeliome v0.10783 CSNK2B Zornitza Stark Gene: csnk2b has been classified as Green List (High Evidence).
Mendeliome v0.10783 CSNK2B Zornitza Stark Phenotypes for gene: CSNK2B were changed from to Poirier-Bienvenu neurodevelopmental syndrome , MIM#618732
Mendeliome v0.10782 CSNK2B Zornitza Stark Publications for gene: CSNK2B were set to
Mendeliome v0.10781 CSNK2B Zornitza Stark Mode of inheritance for gene: CSNK2B was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.10780 CSNK2B Zornitza Stark reviewed gene: CSNK2B: Rating: GREEN; Mode of pathogenicity: None; Publications: 28585349, 28762608; Phenotypes: Poirier-Bienvenu neurodevelopmental syndrome , MIM#618732; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.10780 NCAPD3 Zornitza Stark Marked gene: NCAPD3 as ready
Mendeliome v0.10780 NCAPD3 Zornitza Stark Gene: ncapd3 has been classified as Amber List (Moderate Evidence).
Mendeliome v0.10780 NCAPD3 Zornitza Stark Phenotypes for gene: NCAPD3 were changed from to Microcephaly 22, primary, autosomal recessive, MIM# 617984
Mendeliome v0.10779 NCAPD3 Zornitza Stark Publications for gene: NCAPD3 were set to
Mendeliome v0.10778 NCAPD3 Zornitza Stark Mode of inheritance for gene: NCAPD3 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.10777 NCAPD3 Zornitza Stark Classified gene: NCAPD3 as Amber List (moderate evidence)
Mendeliome v0.10777 NCAPD3 Zornitza Stark Gene: ncapd3 has been classified as Amber List (Moderate Evidence).
Mendeliome v0.10776 NCAPD3 Zornitza Stark reviewed gene: NCAPD3: Rating: AMBER; Mode of pathogenicity: None; Publications: 27737959; Phenotypes: Microcephaly 22, primary, autosomal recessive, MIM# 617984; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.10776 CYP2C8 Zornitza Stark Marked gene: CYP2C8 as ready
Mendeliome v0.10776 CYP2C8 Zornitza Stark Gene: cyp2c8 has been classified as Red List (Low Evidence).
Mendeliome v0.10776 CYP2C8 Zornitza Stark Phenotypes for gene: CYP2C8 were changed from to {Drug metabolism, altered, CYP2C8-related} 618018
Mendeliome v0.10775 CYP2C8 Zornitza Stark Classified gene: CYP2C8 as Red List (low evidence)
Mendeliome v0.10775 CYP2C8 Zornitza Stark Gene: cyp2c8 has been classified as Red List (Low Evidence).
Mendeliome v0.10774 CYP2C8 Zornitza Stark reviewed gene: CYP2C8: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: {Drug metabolism, altered, CYP2C8-related} 618018; Mode of inheritance: None
Mendeliome v0.10774 HPGD Zornitza Stark Marked gene: HPGD as ready
Mendeliome v0.10774 HPGD Zornitza Stark Gene: hpgd has been classified as Green List (High Evidence).
Mendeliome v0.10774 HPGD Zornitza Stark Phenotypes for gene: HPGD were changed from to Hypertrophic osteoarthropathy, primary, autosomal recessive 1 MIM#259100; Cranioosteoarthropathy MIM#259100
Mendeliome v0.10773 HPGD Zornitza Stark Publications for gene: HPGD were set to
Mendeliome v0.10772 HPGD Zornitza Stark Mode of inheritance for gene: HPGD was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.10771 GLMN Zornitza Stark Marked gene: GLMN as ready
Mendeliome v0.10771 GLMN Zornitza Stark Gene: glmn has been classified as Green List (High Evidence).
Mendeliome v0.10771 GLMN Zornitza Stark Phenotypes for gene: GLMN were changed from to Glomuvenous malformations MIM#138000
Mendeliome v0.10770 GLMN Zornitza Stark Publications for gene: GLMN were set to
Mendeliome v0.10769 GLMN Zornitza Stark Mode of inheritance for gene: GLMN was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.10768 GDI1 Zornitza Stark Marked gene: GDI1 as ready
Mendeliome v0.10768 GDI1 Zornitza Stark Gene: gdi1 has been classified as Green List (High Evidence).
Mendeliome v0.10768 GDI1 Zornitza Stark Phenotypes for gene: GDI1 were changed from to Intellectual developmental disorder, X-linked 41 MIM#300849
Mendeliome v0.10767 GDI1 Zornitza Stark Publications for gene: GDI1 were set to
Mendeliome v0.10766 GDI1 Zornitza Stark Mode of inheritance for gene: GDI1 was changed from Unknown to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Mendeliome v0.10765 NMNAT2 Zornitza Stark Phenotypes for gene: NMNAT2 were changed from polyneuropathy; erythromelalgia to polyneuropathy; erythromelalgia; Hydrops fetalis and multiple fetal anomalies
Mendeliome v0.10764 NECTIN1 Zornitza Stark Marked gene: NECTIN1 as ready
Mendeliome v0.10764 NECTIN1 Zornitza Stark Gene: nectin1 has been classified as Green List (High Evidence).
Mendeliome v0.10764 NECTIN1 Zornitza Stark Phenotypes for gene: NECTIN1 were changed from to Cleft lip/palate-ectodermal dysplasia syndrome MIM#225060; Zlotogora-Ogur syndrome
Mendeliome v0.10763 NECTIN1 Zornitza Stark Publications for gene: NECTIN1 were set to
Mendeliome v0.10762 NECTIN1 Zornitza Stark Mode of inheritance for gene: NECTIN1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.10761 AGR2 Zornitza Stark Marked gene: AGR2 as ready
Mendeliome v0.10761 AGR2 Zornitza Stark Gene: agr2 has been classified as Green List (High Evidence).
Mendeliome v0.10761 AGR2 Zornitza Stark Classified gene: AGR2 as Green List (high evidence)
Mendeliome v0.10761 AGR2 Zornitza Stark Gene: agr2 has been classified as Green List (High Evidence).
Mendeliome v0.10760 AGR2 Zornitza Stark gene: AGR2 was added
gene: AGR2 was added to Mendeliome. Sources: Literature
Mode of inheritance for gene: AGR2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: AGR2 were set to 34952832
Phenotypes for gene: AGR2 were set to CF-like disorder
Review for gene: AGR2 was set to GREEN
Added comment: 13 patients from 9 families with a CF-like phenotype consisting of recurrent lower respiratory infections (13/13), failure to thrive (13/13) and chronic diarrhoea (8/13), with high morbidity and mortality. All patients had biallelic variants in AGR2, (1) two splice-site variants, (2) gene deletion and (3) three missense variants.
Sources: Literature
Mendeliome v0.10759 HPGD Ain Roesley reviewed gene: HPGD: Rating: GREEN; Mode of pathogenicity: None; Publications: 20406614, 32282352, 31878983, 29282707; Phenotypes: Hypertrophic osteoarthropathy, primary, autosomal recessive 1 MIM#259100, Cranioosteoarthropathy MIM#259100; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Mendeliome v0.10759 IKZF2 Zornitza Stark Marked gene: IKZF2 as ready
Mendeliome v0.10759 IKZF2 Zornitza Stark Gene: ikzf2 has been classified as Green List (High Evidence).
Mendeliome v0.10759 IKZF2 Zornitza Stark Classified gene: IKZF2 as Green List (high evidence)
Mendeliome v0.10759 IKZF2 Zornitza Stark Gene: ikzf2 has been classified as Green List (High Evidence).
Mendeliome v0.10758 IKZF2 Zornitza Stark gene: IKZF2 was added
gene: IKZF2 was added to Mendeliome. Sources: Literature
Mode of inheritance for gene: IKZF2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: IKZF2 were set to 34920454
Phenotypes for gene: IKZF2 were set to Immune dysregulation
Review for gene: IKZF2 was set to GREEN
Added comment: Six individuals with systemic lupus erythematosus, immune thrombocytopenia or EBV-associated haemophagocytic lymphohistiocytosis reported with variants in this gene. Patients exhibited hypogammaglobulinaemia, decreased number of T-follicular helper and NK-cells.
Sources: Literature
Mendeliome v0.10757 RHBDF2 Zornitza Stark Marked gene: RHBDF2 as ready
Mendeliome v0.10757 RHBDF2 Zornitza Stark Gene: rhbdf2 has been classified as Green List (High Evidence).
Mendeliome v0.10757 RHBDF2 Zornitza Stark Phenotypes for gene: RHBDF2 were changed from to Tylosis with esophageal cancer, MIM# 148500; Immune dysregulation
Mendeliome v0.10756 RHBDF2 Zornitza Stark Publications for gene: RHBDF2 were set to
Mendeliome v0.10755 RHBDF2 Zornitza Stark Mode of inheritance for gene: RHBDF2 was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Mendeliome v0.10754 RHBDF2 Zornitza Stark reviewed gene: RHBDF2: Rating: GREEN; Mode of pathogenicity: None; Publications: 22265016, 22638770, 34937930; Phenotypes: Tylosis with esophageal cancer, MIM# 148500, Immune dysregulation; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Mendeliome v0.10754 GLMN Ain Roesley reviewed gene: GLMN: Rating: GREEN; Mode of pathogenicity: None; Publications: 11845407, 24961656, 32538359; Phenotypes: Glomuvenous malformations MIM#138000; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes
Mendeliome v0.10754 GDI1 Ain Roesley reviewed gene: GDI1: Rating: GREEN; Mode of pathogenicity: None; Publications: 28863211, 22002931, 9620768, 9668174; Phenotypes: Intellectual developmental disorder, X-linked 41 MIM#300849; Mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males); Current diagnostic: yes
Mendeliome v0.10754 ANGPT2 Zornitza Stark Phenotypes for gene: ANGPT2 were changed from Lymphatic malformation-10, MIM#619369; Primary lymphoedema to Lymphatic malformation-10, MIM#619369; Primary lymphoedema; Hydrops
Mendeliome v0.10753 ANGPT2 Zornitza Stark Publications for gene: ANGPT2 were set to 32908006
Mendeliome v0.10752 ANGPT2 Zornitza Stark Mode of inheritance for gene: ANGPT2 was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Mendeliome v0.10751 ANGPT2 Zornitza Stark edited their review of gene: ANGPT2: Added comment: Bi-allelic disease PMID 34876502: single family reported with four fetuses with hydrops fetalis homozygous for ANGPT2 NM_001147.2:c.557A>G. The consanguineous parents and surviving sibblings (a girl and a boy), were heterozygous for this variant. This variant is predicted to create a cryptic exonic splice site, resulting in a r.557_566del and nonsense-mediated mRNA decay. This prediction was supported by the lack of a transcript from this allele in the parents.; Changed publications: 32908006, 34876502; Changed phenotypes: Lymphatic malformation-10, MIM#619369, Primary lymphoedema, Hydrops; Changed mode of inheritance: BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Mendeliome v0.10751 BET1 Zornitza Stark Marked gene: BET1 as ready
Mendeliome v0.10751 BET1 Zornitza Stark Gene: bet1 has been classified as Amber List (Moderate Evidence).
Mendeliome v0.10751 BET1 Zornitza Stark Classified gene: BET1 as Amber List (moderate evidence)
Mendeliome v0.10751 BET1 Zornitza Stark Gene: bet1 has been classified as Amber List (Moderate Evidence).
Mendeliome v0.10750 BET1 Zornitza Stark gene: BET1 was added
gene: BET1 was added to Mendeliome. Sources: Literature
Mode of inheritance for gene: BET1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: BET1 were set to 34779586
Phenotypes for gene: BET1 were set to Muscular dystrophy; Epilepsy
Review for gene: BET1 was set to AMBER
Added comment: Three individuals from 2 unrelated families reported.
Sources: Literature
Mendeliome v0.10749 NMNAT2 Ain Roesley reviewed gene: NMNAT2: Rating: AMBER; Mode of pathogenicity: None; Publications: 31136762; Phenotypes: Hydrops fetalis and multiple fetal anomalies; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Mendeliome v0.10749 NECTIN1 Ain Roesley reviewed gene: NECTIN1: Rating: GREEN; Mode of pathogenicity: None; Publications: 25913853, 10932188; Phenotypes: Cleft lip/palate-ectodermal dysplasia syndrome MIM#225060, Zlotogora-Ogur syndrome; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Mendeliome v0.10749 PAX8 Zornitza Stark Marked gene: PAX8 as ready
Mendeliome v0.10749 PAX8 Zornitza Stark Gene: pax8 has been classified as Green List (High Evidence).
Mendeliome v0.10749 PAX8 Zornitza Stark Phenotypes for gene: PAX8 were changed from to Hypothyroidism, congenital, due to thyroid dysgenesis or hypoplasia, MIM# 218700; Mayer-Rokitansky-Küster-Hauser syndrome (MRKHS)
Mendeliome v0.10748 PAX8 Zornitza Stark Publications for gene: PAX8 were set to
Mendeliome v0.10747 PAX8 Zornitza Stark Mode of inheritance for gene: PAX8 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.10746 PAX8 Zornitza Stark reviewed gene: PAX8: Rating: GREEN; Mode of pathogenicity: None; Publications: 33434492, 9590296, 11232006, 15356023, 15718293; Phenotypes: Hypothyroidism, congenital, due to thyroid dysgenesis or hypoplasia, MIM# 218700, Mayer-Rokitansky-Küster-Hauser syndrome (MRKHS); Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.10746 PAPSS2 Zornitza Stark Marked gene: PAPSS2 as ready
Mendeliome v0.10746 PAPSS2 Zornitza Stark Gene: papss2 has been classified as Green List (High Evidence).
Mendeliome v0.10746 PAPSS2 Zornitza Stark Phenotypes for gene: PAPSS2 were changed from to Brachyolmia 4 with mild epiphyseal and metaphyseal changes MIM#612847
Mendeliome v0.10745 PAPSS2 Zornitza Stark Publications for gene: PAPSS2 were set to
Mendeliome v0.10744 PAPSS2 Zornitza Stark Mode of inheritance for gene: PAPSS2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.10743 PAPSS2 Zornitza Stark reviewed gene: PAPSS2: Rating: GREEN; Mode of pathogenicity: None; Publications: 22791835, 25594860, 31461705, 23633440, 9771708, 19474428; Phenotypes: Brachyolmia 4 with mild epiphyseal and metaphyseal changes MIM#612847; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.10743 UQCRC2 Zornitza Stark Publications for gene: UQCRC2 were set to 28275242; 23281071
Mendeliome v0.10742 UQCRC2 Zornitza Stark Classified gene: UQCRC2 as Green List (high evidence)
Mendeliome v0.10742 UQCRC2 Zornitza Stark Gene: uqcrc2 has been classified as Green List (High Evidence).
Mendeliome v0.10741 UQCRC2 Zornitza Stark edited their review of gene: UQCRC2: Added comment: Third family with different variant reported, together with functional data.; Changed rating: GREEN; Changed publications: 28275242, 23281071, 33865955
Mendeliome v0.10741 DNHD1 Zornitza Stark Phenotypes for gene: DNHD1 were changed from Male infertility due to sperm motility disorder (MONDO:0018395) to Spermatogenic failure 65, MIM# 619712
Mendeliome v0.10740 DNHD1 Zornitza Stark reviewed gene: DNHD1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Spermatogenic failure 65, MIM# 619712; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.10740 STT3A Zornitza Stark Phenotypes for gene: STT3A were changed from Congenital disorder of glycosylation, type Iw MIM#615596 to Congenital disorder of glycosylation, type Iw, AR, OMIM #615596; Congenital disorder of glycosylation, type Iw, autosomal dominant, MIM# 619714
Mendeliome v0.10739 FMN2 Zornitza Stark Marked gene: FMN2 as ready
Mendeliome v0.10739 FMN2 Zornitza Stark Gene: fmn2 has been classified as Green List (High Evidence).
Mendeliome v0.10739 FMN2 Zornitza Stark Phenotypes for gene: FMN2 were changed from to Intellectual developmental disorder, autosomal recessive 47, MIM#616193
Mendeliome v0.10738 FMN2 Zornitza Stark Publications for gene: FMN2 were set to
Mendeliome v0.10737 FMN2 Zornitza Stark Mode of inheritance for gene: FMN2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.10736 FMN2 Zornitza Stark reviewed gene: FMN2: Rating: GREEN; Mode of pathogenicity: None; Publications: 25480035, 32162566, 24161494; Phenotypes: Intellectual developmental disorder, autosomal recessive 47, MIM#616193; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.10736 HAND1 Zornitza Stark Marked gene: HAND1 as ready
Mendeliome v0.10736 HAND1 Zornitza Stark Gene: hand1 has been classified as Amber List (Moderate Evidence).
Mendeliome v0.10736 HAND1 Zornitza Stark Classified gene: HAND1 as Amber List (moderate evidence)
Mendeliome v0.10736 HAND1 Zornitza Stark Gene: hand1 has been classified as Amber List (Moderate Evidence).
Mendeliome v0.10735 HAND1 Zornitza Stark Mode of inheritance for gene: HAND1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.10734 HAND1 Zornitza Stark Publications for gene: HAND1 were set to
Mendeliome v0.10733 HAND1 Zornitza Stark Phenotypes for gene: HAND1 were changed from to Congenital heart disease, MONDO:0005453
Mendeliome v0.10732 ILK Zornitza Stark Marked gene: ILK as ready
Mendeliome v0.10732 ILK Zornitza Stark Gene: ilk has been classified as Red List (Low Evidence).
Mendeliome v0.10732 ILK Zornitza Stark Phenotypes for gene: ILK were changed from to Dilated cardiomyopathy
Mendeliome v0.10731 ILK Zornitza Stark Publications for gene: ILK were set to
Mendeliome v0.10730 ILK Zornitza Stark Mode of inheritance for gene: ILK was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.10729 ILK Zornitza Stark Classified gene: ILK as Red List (low evidence)
Mendeliome v0.10729 ILK Zornitza Stark Gene: ilk has been classified as Red List (Low Evidence).
Mendeliome v0.10728 ILK Zornitza Stark reviewed gene: ILK: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Dilated cardiomyopathy; Mode of inheritance: None
Mendeliome v0.10728 ZIC4 Zornitza Stark Marked gene: ZIC4 as ready
Mendeliome v0.10728 ZIC4 Zornitza Stark Added comment: Comment when marking as ready: Two individuals reported with a deletion of ZIC1 and ZIC4 and Dandy-Walker malformation.
Mendeliome v0.10728 ZIC4 Zornitza Stark Gene: zic4 has been classified as Red List (Low Evidence).
Mendeliome v0.10728 ZIC4 Zornitza Stark Publications for gene: ZIC4 were set to
Mendeliome v0.10727 ZIC4 Zornitza Stark Classified gene: ZIC4 as Red List (low evidence)
Mendeliome v0.10727 ZIC4 Zornitza Stark Gene: zic4 has been classified as Red List (Low Evidence).
Mendeliome v0.10726 FKBP10 Zornitza Stark Marked gene: FKBP10 as ready
Mendeliome v0.10726 FKBP10 Zornitza Stark Gene: fkbp10 has been classified as Green List (High Evidence).
Mendeliome v0.10726 FKBP10 Zornitza Stark Phenotypes for gene: FKBP10 were changed from to Bruck syndrome 1, MONDO:0009806; Osteogenesis imperfecta, type XI, OMIM:610968; Osteogenesis imperfecta type 11, MONDO:0012592; Bruck syndrome 1, OMIM:259450
Mendeliome v0.10725 FKBP10 Zornitza Stark Publications for gene: FKBP10 were set to
Mendeliome v0.10724 FKBP10 Zornitza Stark Mode of inheritance for gene: FKBP10 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.10723 FKBP10 Zornitza Stark reviewed gene: FKBP10: Rating: GREEN; Mode of pathogenicity: None; Publications: 20696291, 20362275, 20839288, 21567934, 21567934, 23712425, 22718341; Phenotypes: Bruck syndrome 1, MONDO:0009806, Osteogenesis imperfecta, type XI, OMIM:610968, Osteogenesis imperfecta type 11, MONDO:0012592, Bruck syndrome 1, OMIM:259450; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.10723 FAM46A Zornitza Stark Marked gene: FAM46A as ready
Mendeliome v0.10723 FAM46A Zornitza Stark Gene: fam46a has been classified as Green List (High Evidence).
Mendeliome v0.10723 FAM46A Zornitza Stark Phenotypes for gene: FAM46A were changed from to Osteogenesis imperfecta, type XVIII MIM#617952
Mendeliome v0.10722 FAM46A Zornitza Stark Publications for gene: FAM46A were set to
Mendeliome v0.10721 FAM46A Zornitza Stark Mode of inheritance for gene: FAM46A was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.10720 FAM46A Zornitza Stark Tag new gene name tag was added to gene: FAM46A.
Mendeliome v0.10720 DYNC1I1 Zornitza Stark Marked gene: DYNC1I1 as ready
Mendeliome v0.10720 DYNC1I1 Zornitza Stark Gene: dync1i1 has been classified as Green List (High Evidence).
Mendeliome v0.10720 DYNC1I1 Zornitza Stark Classified gene: DYNC1I1 as Green List (high evidence)
Mendeliome v0.10720 DYNC1I1 Zornitza Stark Gene: dync1i1 has been classified as Green List (High Evidence).
Mendeliome v0.10719 DYNC1I1 Zornitza Stark Tag SV/CNV tag was added to gene: DYNC1I1.
Mendeliome v0.10719 GATA5 Zornitza Stark Marked gene: GATA5 as ready
Mendeliome v0.10719 GATA5 Zornitza Stark Gene: gata5 has been classified as Amber List (Moderate Evidence).
Mendeliome v0.10719 GATA5 Zornitza Stark Phenotypes for gene: GATA5 were changed from to Congenital heart defects, multiple types, 5 - #617912
Mendeliome v0.10718 GATA5 Zornitza Stark Publications for gene: GATA5 were set to
Mendeliome v0.10717 GATA5 Zornitza Stark Mode of inheritance for gene: GATA5 was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Mendeliome v0.10716 GATA5 Zornitza Stark Classified gene: GATA5 as Amber List (moderate evidence)
Mendeliome v0.10716 GATA5 Zornitza Stark Gene: gata5 has been classified as Amber List (Moderate Evidence).
Mendeliome v0.10715 MYPN Zornitza Stark Marked gene: MYPN as ready
Mendeliome v0.10715 MYPN Zornitza Stark Gene: mypn has been classified as Green List (High Evidence).
Mendeliome v0.10715 MYPN Zornitza Stark Phenotypes for gene: MYPN were changed from to Nemaline myopathy 11, autosomal recessive MIM#617336 AR; cardiomyopathy MIM#615248 AD
Mendeliome v0.10714 MYPN Zornitza Stark Mode of inheritance for gene: MYPN was changed from Unknown to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Mendeliome v0.10713 MYL9 Zornitza Stark Publications for gene: MYL9 were set to 29453416; 33031641
Mendeliome v0.10712 MYL9 Zornitza Stark Classified gene: MYL9 as Green List (high evidence)
Mendeliome v0.10712 MYL9 Zornitza Stark Gene: myl9 has been classified as Green List (High Evidence).
Mendeliome v0.10711 MSTO1 Zornitza Stark Marked gene: MSTO1 as ready
Mendeliome v0.10711 MSTO1 Zornitza Stark Gene: msto1 has been classified as Green List (High Evidence).
Mendeliome v0.10711 MSTO1 Zornitza Stark Phenotypes for gene: MSTO1 were changed from to Myopathy, mitochondrial, and ataxia, OMIM:617675; Mitochondrial myopathy-cerebellar ataxia-pigmentary retinopathy syndrome, MONDO:0044714
Mendeliome v0.10710 MSTO1 Zornitza Stark Publications for gene: MSTO1 were set to
Mendeliome v0.10709 MSTO1 Zornitza Stark Mode of inheritance for gene: MSTO1 was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Mendeliome v0.10708 MSTO1 Zornitza Stark reviewed gene: MSTO1: Rating: GREEN; Mode of pathogenicity: None; Publications: 28554942, 28544275, 31604776, 31463572, 31130378, 30684668, 29339779; Phenotypes: Myopathy, mitochondrial, and ataxia, OMIM:617675, Mitochondrial myopathy-cerebellar ataxia-pigmentary retinopathy syndrome, MONDO:0044714; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Mendeliome v0.10708 MDH2 Zornitza Stark Marked gene: MDH2 as ready
Mendeliome v0.10708 MDH2 Zornitza Stark Gene: mdh2 has been classified as Green List (High Evidence).
Mendeliome v0.10708 MDH2 Zornitza Stark Phenotypes for gene: MDH2 were changed from to Developmental and epileptic encephalopathy 51 MIM#617339
Mendeliome v0.10707 MDH2 Zornitza Stark Publications for gene: MDH2 were set to
Mendeliome v0.10706 MDH2 Zornitza Stark Mode of inheritance for gene: MDH2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.10705 FOXH1 Zornitza Stark Marked gene: FOXH1 as ready
Mendeliome v0.10705 FOXH1 Zornitza Stark Gene: foxh1 has been classified as Amber List (Moderate Evidence).
Mendeliome v0.10705 FOXH1 Zornitza Stark Phenotypes for gene: FOXH1 were changed from to Congenital heart disease; holoprosencephaly
Mendeliome v0.10704 FOXH1 Zornitza Stark Publications for gene: FOXH1 were set to
Mendeliome v0.10703 FOXH1 Zornitza Stark Mode of inheritance for gene: FOXH1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.10702 FOXH1 Zornitza Stark Classified gene: FOXH1 as Amber List (moderate evidence)
Mendeliome v0.10702 FOXH1 Zornitza Stark Gene: foxh1 has been classified as Amber List (Moderate Evidence).
Mendeliome v0.10701 MBOAT7 Zornitza Stark Marked gene: MBOAT7 as ready
Mendeliome v0.10701 MBOAT7 Zornitza Stark Gene: mboat7 has been classified as Green List (High Evidence).
Mendeliome v0.10701 MBOAT7 Zornitza Stark Phenotypes for gene: MBOAT7 were changed from to intellectual disability MIM#617188
Mendeliome v0.10700 MBOAT7 Zornitza Stark Publications for gene: MBOAT7 were set to
Mendeliome v0.10699 MBOAT7 Zornitza Stark Mode of inheritance for gene: MBOAT7 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.10698 HAND2 Krithika Murali reviewed gene: HAND2: Rating: AMBER; Mode of pathogenicity: None; Publications: 26865696, 32134193, 26676105, 30217752, 20819618; Phenotypes: Congenital heart disease; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.10698 SIN3A Zornitza Stark Marked gene: SIN3A as ready
Mendeliome v0.10698 SIN3A Zornitza Stark Gene: sin3a has been classified as Green List (High Evidence).
Mendeliome v0.10698 SIN3A Zornitza Stark Phenotypes for gene: SIN3A were changed from to Witteveen-Kolk syndrome, OMIM # 613406
Mendeliome v0.10697 SIN3A Zornitza Stark Publications for gene: SIN3A were set to
Mendeliome v0.10696 SIN3A Zornitza Stark Mode of inheritance for gene: SIN3A was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.10695 SIN3A Zornitza Stark reviewed gene: SIN3A: Rating: GREEN; Mode of pathogenicity: None; Publications: 27399968; Phenotypes: Witteveen-Kolk syndrome, OMIM # 613406; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.10695 SYN1 Zornitza Stark Marked gene: SYN1 as ready
Mendeliome v0.10695 SYN1 Zornitza Stark Gene: syn1 has been classified as Green List (High Evidence).
Mendeliome v0.10695 SYN1 Zornitza Stark Phenotypes for gene: SYN1 were changed from to Epilepsy, X-linked, with variable learning disabilities and behaviour disorders, MIM# 300491; Intellectual developmental disorder, X-linked 50, MIM# 300115
Mendeliome v0.10694 SYN1 Zornitza Stark Publications for gene: SYN1 were set to
Mendeliome v0.10693 SYN1 Zornitza Stark Mode of inheritance for gene: SYN1 was changed from Unknown to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Mendeliome v0.10692 SYN1 Zornitza Stark reviewed gene: SYN1: Rating: GREEN; Mode of pathogenicity: None; Publications: 14985377, 21441247, 28973667, 21441247, 34243774; Phenotypes: Epilepsy, X-linked, with variable learning disabilities and behaviour disorders, MIM# 300491, Intellectual developmental disorder, X-linked 50, MIM# 300115; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Mendeliome v0.10692 DCC Zornitza Stark Marked gene: DCC as ready
Mendeliome v0.10692 DCC Zornitza Stark Gene: dcc has been classified as Green List (High Evidence).
Mendeliome v0.10692 DCC Zornitza Stark Phenotypes for gene: DCC were changed from to Mirror movements 1 and/or agenesis of the corpus callosum, OMIM #157600; Gaze palsy, familial horizontal, with progressive scoliosis, 2,OMIM # 617542
Mendeliome v0.10691 DCC Zornitza Stark Publications for gene: DCC were set to
Mendeliome v0.10690 DCC Zornitza Stark Mode of inheritance for gene: DCC was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Mendeliome v0.10689 DCC Zornitza Stark reviewed gene: DCC: Rating: GREEN; Mode of pathogenicity: None; Publications: 20431009, 31697046, 21242494, 28250454, 28250456; Phenotypes: Mirror movements 1 and/or agenesis of the corpus callosum, OMIM #157600, Gaze palsy, familial horizontal, with progressive scoliosis, 2,OMIM # 617542; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Mendeliome v0.10689 SNX10 Zornitza Stark Marked gene: SNX10 as ready
Mendeliome v0.10689 SNX10 Zornitza Stark Gene: snx10 has been classified as Green List (High Evidence).
Mendeliome v0.10689 SNX10 Zornitza Stark Phenotypes for gene: SNX10 were changed from to Osteopetrosis, autosomal recessive 8, MIM# 615085
Mendeliome v0.10688 SNX10 Zornitza Stark Publications for gene: SNX10 were set to
Mendeliome v0.10687 SNX10 Zornitza Stark Mode of inheritance for gene: SNX10 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.10686 SNX10 Zornitza Stark reviewed gene: SNX10: Rating: GREEN; Mode of pathogenicity: None; Publications: 22499339, 23123320, 33678645, 32278070, 30977576, 30898715; Phenotypes: Osteopetrosis, autosomal recessive 8, MIM# 615085; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.10686 MEOX1 Zornitza Stark Marked gene: MEOX1 as ready
Mendeliome v0.10686 MEOX1 Zornitza Stark Gene: meox1 has been classified as Green List (High Evidence).
Mendeliome v0.10686 MEOX1 Zornitza Stark Phenotypes for gene: MEOX1 were changed from to Klippel-Feil syndrome 2, OMIM:214300; Klippel-Feil syndrome 2, autosomal recessive, MONDO:0008958
Mendeliome v0.10685 MEOX1 Zornitza Stark Publications for gene: MEOX1 were set to
Mendeliome v0.10684 MEOX1 Zornitza Stark Mode of inheritance for gene: MEOX1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.10683 MEOX1 Zornitza Stark reviewed gene: MEOX1: Rating: GREEN; Mode of pathogenicity: None; Publications: 24073994, 23290072; Phenotypes: Klippel-Feil syndrome 2, OMIM:214300, Klippel-Feil syndrome 2, autosomal recessive, MONDO:0008958; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.10683 OTUD6B Zornitza Stark Marked gene: OTUD6B as ready
Mendeliome v0.10683 OTUD6B Zornitza Stark Gene: otud6b has been classified as Green List (High Evidence).
Mendeliome v0.10683 OTUD6B Zornitza Stark Phenotypes for gene: OTUD6B were changed from to Intellectual developmental disorder with dysmorphic facies, seizures, and distal limb anomalies, OMIM #617452
Mendeliome v0.10682 OTUD6B Zornitza Stark Publications for gene: OTUD6B were set to
Mendeliome v0.10681 OTUD6B Zornitza Stark Mode of inheritance for gene: OTUD6B was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.10680 OTUD6B Zornitza Stark changed review comment from: IDDFSDA is a severe multisystem disorder characterized by global developmental delay, microcephaly, absent speech, hypotonia, growth retardation with prenatal onset, feeding difficulties, structural brain abnormalities, congenital malformations including congenital heart disease, and musculoskeletal features. In 2017, 12 patients from 6 unrelated families with IDDFSDA identified with 4 homozygous mutations in the OTUD6B gene (WES and Sanger, and segregated with the disorder in the families). Other cases reported since. Suitable for fetal anomalies panel.; to: IDDFSDA is a severe multisystem disorder characterized by global developmental delay, microcephaly, absent speech, hypotonia, growth retardation with prenatal onset, feeding difficulties, structural brain abnormalities, congenital malformations including congenital heart disease, and musculoskeletal features. In 2017, 12 patients from 6 unrelated families with IDDFSDA identified with 4 homozygous mutations in the OTUD6B gene (WES and Sanger, and segregated with the disorder in the families). Other cases reported since.
Mendeliome v0.10680 OTUD6B Zornitza Stark reviewed gene: OTUD6B: Rating: GREEN; Mode of pathogenicity: None; Publications: 28343629, 32924626, 31147255; Phenotypes: Intellectual developmental disorder with dysmorphic facies, seizures, and distal limb anomalies, OMIM #617452; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.10680 SERPINH1 Zornitza Stark Marked gene: SERPINH1 as ready
Mendeliome v0.10680 SERPINH1 Zornitza Stark Gene: serpinh1 has been classified as Green List (High Evidence).
Mendeliome v0.10680 SERPINH1 Zornitza Stark Phenotypes for gene: SERPINH1 were changed from to Osteogenesis imperfecta, type X, MIM# 613848; Osteogenesis imperfecta type 10, MONDO:0013459
Mendeliome v0.10679 SERPINH1 Zornitza Stark Publications for gene: SERPINH1 were set to
Mendeliome v0.10678 SERPINH1 Zornitza Stark Mode of inheritance for gene: SERPINH1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.10677 SERPINH1 Zornitza Stark reviewed gene: SERPINH1: Rating: GREEN; Mode of pathogenicity: None; Publications: 20188343, 25510505, 31179625, 29520608; Phenotypes: Osteogenesis imperfecta, type X, MIM# 613848, Osteogenesis imperfecta type 10, MONDO:0013459; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.10677 SERPINF1 Zornitza Stark Marked gene: SERPINF1 as ready
Mendeliome v0.10677 SERPINF1 Zornitza Stark Gene: serpinf1 has been classified as Green List (High Evidence).
Mendeliome v0.10677 SERPINF1 Zornitza Stark Phenotypes for gene: SERPINF1 were changed from to Osteogenesis imperfecta, type VI, MIM# 613982
Mendeliome v0.10676 SERPINF1 Zornitza Stark Publications for gene: SERPINF1 were set to
Mendeliome v0.10675 SERPINF1 Zornitza Stark Mode of inheritance for gene: SERPINF1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.10674 SERPINF1 Zornitza Stark edited their review of gene: SERPINF1: Changed mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.10674 SERPINF1 Zornitza Stark reviewed gene: SERPINF1: Rating: GREEN; Mode of pathogenicity: None; Publications: 21353196, 23054245; Phenotypes: Osteogenesis imperfecta, type VI, MIM# 613982; Mode of inheritance: None
Mendeliome v0.10674 PITX1 Zornitza Stark Marked gene: PITX1 as ready
Mendeliome v0.10674 PITX1 Zornitza Stark Gene: pitx1 has been classified as Green List (High Evidence).
Mendeliome v0.10674 PITX1 Zornitza Stark Phenotypes for gene: PITX1 were changed from to Brachydactyly-elbow wrist dysplasia syndrome, MONDO:0008520; Clubfoot, MONDO:0007342; Liebenberg syndrome, OMIM:186550; Clubfoot, congenital, with or without deficiency of long bones and/or mirror-image polydactyly, OMIM:119800
Mendeliome v0.10673 PITX1 Zornitza Stark Publications for gene: PITX1 were set to
Mendeliome v0.10672 PITX1 Zornitza Stark Mode of inheritance for gene: PITX1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.10671 PITX1 Zornitza Stark reviewed gene: PITX1: Rating: GREEN; Mode of pathogenicity: None; Publications: 21775501, 22258522, 18950742; Phenotypes: Brachydactyly-elbow wrist dysplasia syndrome, MONDO:0008520, Clubfoot, MONDO:0007342, Liebenberg syndrome, OMIM:186550, Clubfoot, congenital, with or without deficiency of long bones and/or mirror-image polydactyly, OMIM:119800; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.10671 ICAM1 Zornitza Stark Marked gene: ICAM1 as ready
Mendeliome v0.10671 ICAM1 Zornitza Stark Gene: icam1 has been classified as Red List (Low Evidence).
Mendeliome v0.10671 ICAM1 Zornitza Stark Classified gene: ICAM1 as Red List (low evidence)
Mendeliome v0.10671 ICAM1 Zornitza Stark Gene: icam1 has been classified as Red List (Low Evidence).
Mendeliome v0.10670 IRAK3 Zornitza Stark Marked gene: IRAK3 as ready
Mendeliome v0.10670 IRAK3 Zornitza Stark Gene: irak3 has been classified as Red List (Low Evidence).
Mendeliome v0.10670 IRAK3 Zornitza Stark Classified gene: IRAK3 as Red List (low evidence)
Mendeliome v0.10670 IRAK3 Zornitza Stark Gene: irak3 has been classified as Red List (Low Evidence).
Mendeliome v0.10669 CAPN10 Zornitza Stark Marked gene: CAPN10 as ready
Mendeliome v0.10669 CAPN10 Zornitza Stark Gene: capn10 has been classified as Red List (Low Evidence).
Mendeliome v0.10669 CAPN10 Zornitza Stark Phenotypes for gene: CAPN10 were changed from to {Diabetes mellitus, noninsulin-dependent 1} 601283
Mendeliome v0.10668 CAPN10 Zornitza Stark Publications for gene: CAPN10 were set to
Mendeliome v0.10667 CAPN10 Zornitza Stark Classified gene: CAPN10 as Red List (low evidence)
Mendeliome v0.10667 CAPN10 Zornitza Stark Gene: capn10 has been classified as Red List (Low Evidence).
Mendeliome v0.10666 SPARC Zornitza Stark Marked gene: SPARC as ready
Mendeliome v0.10666 SPARC Zornitza Stark Gene: sparc has been classified as Green List (High Evidence).
Mendeliome v0.10666 SPARC Zornitza Stark Phenotypes for gene: SPARC were changed from to Osteogenesis imperfecta, type XVII, MIM# 616507
Mendeliome v0.10665 SPARC Zornitza Stark Publications for gene: SPARC were set to
Mendeliome v0.10664 SPARC Zornitza Stark Mode of inheritance for gene: SPARC was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.10663 SPARC Zornitza Stark reviewed gene: SPARC: Rating: GREEN; Mode of pathogenicity: None; Publications: 26027498, 34462290; Phenotypes: Osteogenesis imperfecta, type XVII, MIM# 616507; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.10663 SLC39A7 Zornitza Stark edited their review of gene: SLC39A7: Changed rating: GREEN
Mendeliome v0.10663 SLC39A7 Zornitza Stark edited their review of gene: SLC39A7: Changed rating: RED
Mendeliome v0.10663 WNT7A Seb Lunke Marked gene: WNT7A as ready
Mendeliome v0.10663 WNT7A Seb Lunke Gene: wnt7a has been classified as Green List (High Evidence).
Mendeliome v0.10663 WNT7A Seb Lunke Phenotypes for gene: WNT7A were changed from to Fuhrmann syndrome, MIM# 228930; Ulna and fibula, absence of, with severe limb deficiency, MIM# 276820
Mendeliome v0.10662 WNT7A Seb Lunke Publications for gene: WNT7A were set to
Mendeliome v0.10661 WNT7A Seb Lunke Mode of inheritance for gene: WNT7A was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.10660 WNT7A Seb Lunke reviewed gene: WNT7A: Rating: GREEN; Mode of pathogenicity: None; Publications: 21344627, 20949531, 16826533; Phenotypes: Fuhrmann syndrome, MIM# 228930, Ulna and fibula, absence of, with severe limb deficiency, MIM# 276820; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Mendeliome v0.10660 XYLT1 Seb Lunke Marked gene: XYLT1 as ready
Mendeliome v0.10660 XYLT1 Seb Lunke Gene: xylt1 has been classified as Green List (High Evidence).
Mendeliome v0.10660 XYLT1 Seb Lunke Publications for gene: XYLT1 were set to
Mendeliome v0.10659 ZIC1 Seb Lunke Phenotypes for gene: ZIC1 were changed from to Structural brain anomalies with impaired intellectual development and craniosynostosis, OMIM#618736
Mendeliome v0.10658 ZIC1 Seb Lunke Marked gene: ZIC1 as ready
Mendeliome v0.10658 ZIC1 Seb Lunke Gene: zic1 has been classified as Green List (High Evidence).
Mendeliome v0.10658 ZIC1 Seb Lunke Publications for gene: ZIC1 were set to
Mendeliome v0.10657 ZIC1 Seb Lunke Mode of inheritance for gene: ZIC1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.10656 ZIC1 Seb Lunke reviewed gene: ZIC1: Rating: GREEN; Mode of pathogenicity: None; Publications: 26340333, 30391508; Phenotypes: Structural brain anomalies with impaired intellectual development and craniosynostosis, OMIM#618736; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.10656 STRADA Zornitza Stark Marked gene: STRADA as ready
Mendeliome v0.10656 STRADA Zornitza Stark Gene: strada has been classified as Green List (High Evidence).
Mendeliome v0.10656 STRADA Zornitza Stark Phenotypes for gene: STRADA were changed from to Polyhydramnios, megalencephaly, and symptomatic epilepsy, OMIM:611087; Polyhydramnios, megalencephaly, and symptomatic epilepsy, MONDO:0012611
Mendeliome v0.10655 STRADA Zornitza Stark Publications for gene: STRADA were set to
Mendeliome v0.10654 STRADA Zornitza Stark Mode of inheritance for gene: STRADA was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.10653 STRADA Zornitza Stark reviewed gene: STRADA: Rating: GREEN; Mode of pathogenicity: None; Publications: 17522105, 27170158, 28688840; Phenotypes: Polyhydramnios, megalencephaly, and symptomatic epilepsy, OMIM:611087, Polyhydramnios, megalencephaly, and symptomatic epilepsy, MONDO:0012611; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.10653 YAP1 Zornitza Stark Mode of inheritance for gene: YAP1 was changed from BIALLELIC, autosomal or pseudoautosomal to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.10652 YAP1 Zornitza Stark edited their review of gene: YAP1: Changed mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.10652 YAP1 Zornitza Stark Marked gene: YAP1 as ready
Mendeliome v0.10652 YAP1 Zornitza Stark Gene: yap1 has been classified as Green List (High Evidence).
Mendeliome v0.10652 YAP1 Zornitza Stark Phenotypes for gene: YAP1 were changed from to Coloboma, ocular, with or without hearing impairment, cleft lip/palate, and/or mental retardation, MIM#120433
Mendeliome v0.10651 YAP1 Zornitza Stark Publications for gene: YAP1 were set to
Mendeliome v0.10650 YAP1 Zornitza Stark Mode of inheritance for gene: YAP1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.10649 YAP1 Zornitza Stark reviewed gene: YAP1: Rating: GREEN; Mode of pathogenicity: None; Publications: 24462371, 27267789, 28801591; Phenotypes: Coloboma, ocular, with or without hearing impairment, cleft lip/palate, and/or mental retardation, MIM#120433; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.10649 WDR73 Zornitza Stark Marked gene: WDR73 as ready
Mendeliome v0.10649 WDR73 Zornitza Stark Gene: wdr73 has been classified as Green List (High Evidence).
Mendeliome v0.10649 WDR73 Zornitza Stark Phenotypes for gene: WDR73 were changed from to Galloway-Mowat syndrome 1, MIM#251300
Mendeliome v0.10648 WDR73 Zornitza Stark Publications for gene: WDR73 were set to
Mendeliome v0.10647 WDR73 Zornitza Stark Mode of inheritance for gene: WDR73 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.10646 WDR73 Zornitza Stark reviewed gene: WDR73: Rating: GREEN; Mode of pathogenicity: None; Publications: 25466283, 26123727, 25873735, 26070982, 30315938; Phenotypes: Galloway-Mowat syndrome 1 MIM#251300; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.10646 USP18 Zornitza Stark Marked gene: USP18 as ready
Mendeliome v0.10646 USP18 Zornitza Stark Gene: usp18 has been classified as Green List (High Evidence).
Mendeliome v0.10646 USP18 Zornitza Stark Phenotypes for gene: USP18 were changed from to Pseudo-TORCH syndrome 2 MIM#617397
Mendeliome v0.10645 USP18 Zornitza Stark Publications for gene: USP18 were set to
Mendeliome v0.10644 USP18 Zornitza Stark Mode of inheritance for gene: USP18 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.10643 USP18 Zornitza Stark edited their review of gene: USP18: Changed publications: 31940699, 12833411, 27325888
Mendeliome v0.10643 USP18 Zornitza Stark reviewed gene: USP18: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Pseudo-TORCH syndrome 2 MIM#617397; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.10643 HAND1 Krithika Murali reviewed gene: HAND1: Rating: AMBER; Mode of pathogenicity: None; Publications: 31286141, 29016838, 29317578, 29179274, 28112363, 27942761, 26581070; Phenotypes: Congenital heart defects; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.10643 ILK Paul De Fazio reviewed gene: ILK: Rating: AMBER; Mode of pathogenicity: None; Publications: 17646580, 27886618, 25163546; Phenotypes: Dilated cardiomyopathy; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown; Current diagnostic: yes
Mendeliome v0.10643 ZIC4 Michelle Torres reviewed gene: ZIC4: Rating: RED; Mode of pathogenicity: None; Publications: 21204220, 15338008; Phenotypes: ; Mode of inheritance: Unknown
Mendeliome v0.10643 FAM46A Belinda Chong reviewed gene: FAM46A: Rating: GREEN; Mode of pathogenicity: None; Publications: 29358272; Phenotypes: Osteogenesis imperfecta, type XVIII MIM#617952; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Mendeliome v0.10643 DYNC1I1 Krithika Murali gene: DYNC1I1 was added
gene: DYNC1I1 was added to Mendeliome. Sources: Expert Review,Literature
Mode of inheritance for gene: DYNC1I1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: DYNC1I1 were set to 22914741; 25231166; 32219838
Phenotypes for gene: DYNC1I1 were set to Split-hand/split-foot malformation (SHFM)
Review for gene: DYNC1I1 was set to GREEN
Added comment: Gene disease association reviewed in Sept 2021 - no new publications.

At least 6 unrelated families with overlapping deletions that included exons 15 and 17 of DYNC1I1. Exons 15 and 17 have previously been shown to act as tissue-specific enhancers of Dlx5/6 in mouse and zebrafish. No SNVs reported in association with disease.
Sources: Expert Review, Literature
Mendeliome v0.10643 GATA5 Krithika Murali reviewed gene: GATA5: Rating: AMBER; Mode of pathogenicity: None; Publications: 28180938, 27066509, 34461831, 30229885, 28285006, 25543888, 25515806, 24796370, 23295592, 23289003, 22961344; Phenotypes: Congenital heart defects, multiple types, 5 - #617912; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Mendeliome v0.10643 TBX22 Zornitza Stark Marked gene: TBX22 as ready
Mendeliome v0.10643 TBX22 Zornitza Stark Gene: tbx22 has been classified as Green List (High Evidence).
Mendeliome v0.10643 TBX22 Zornitza Stark Phenotypes for gene: TBX22 were changed from to Cleft palate with ankyloglossia, MIM# 303400; Abruzzo-Erickson syndrome, MIM# 302905
Mendeliome v0.10642 TBX22 Zornitza Stark Publications for gene: TBX22 were set to
Mendeliome v0.10641 TBX22 Zornitza Stark Mode of inheritance for gene: TBX22 was changed from Unknown to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Mendeliome v0.10640 TBX22 Zornitza Stark reviewed gene: TBX22: Rating: GREEN; Mode of pathogenicity: None; Publications: 11559848, 12374769, 14729838, 17868388, 22784330, 22784330; Phenotypes: Cleft palate with ankyloglossia, MIM# 303400, Abruzzo-Erickson syndrome, MIM# 302905; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Mendeliome v0.10640 MYPN Ain Roesley reviewed gene: MYPN: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Nemaline myopathy 11, autosomal recessive MIM#617336 AR, cardiomyopathy MIM#615248 AD; Mode of inheritance: BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal; Current diagnostic: yes
Mendeliome v0.10640 MYL9 Ain Roesley Deleted their comment
Mendeliome v0.10640 MYL9 Ain Roesley edited their review of gene: MYL9: Added comment: PMID:32621347;
3rd family with non-consanguineous parents and 3 TOPs. 2 were genotyped and found to be hom for the same deletion of exon 4 as reported by PMID: 29453416

Possibly 4th proband in PMID: 33264186 but specifics including genotype were lacking and overlapping institute/hospital as PMID: 33031641; Changed publications: 32621347, 33264186
Mendeliome v0.10640 MYL9 Ain Roesley edited their review of gene: MYL9: Changed publications: 32621347
Mendeliome v0.10640 MYL9 Ain Roesley reviewed gene: MYL9: Rating: GREEN; Mode of pathogenicity: None; Publications: 33264186; Phenotypes: Megacystis-microcolon-intestinal hypoperistalsis syndrome, MIM#619365; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Mendeliome v0.10640 MSTO1 Ain Roesley reviewed gene: MSTO1: Rating: GREEN; Mode of pathogenicity: None; Publications: 28554942, 28544275, 31604776, 31463572, 31130378, 30684668, 29339779; Phenotypes: Myopathy, mitochondrial, and ataxia, MIM# 617675; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal; Current diagnostic: yes
Mendeliome v0.10640 FOXH1 Krithika Murali reviewed gene: FOXH1: Rating: AMBER; Mode of pathogenicity: None; Publications: 18538293, 19933292, 32003456, 12094232, 16304598; Phenotypes: Congenital heart disease, holoprosencephaly; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.10640 MDH2 Ain Roesley reviewed gene: MDH2: Rating: GREEN; Mode of pathogenicity: None; Publications: 34766628, 27989324; Phenotypes: Developmental and epileptic encephalopathy 51 MIM#617339; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Mendeliome v0.10640 MBOAT7 Ain Roesley reviewed gene: MBOAT7: Rating: GREEN; Mode of pathogenicity: None; Publications: 33335874, 32645526, 32744787, 31852446, 31282596, 30701556; Phenotypes: intellectual disability MIM#617188; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes
Mendeliome v0.10640 LMBRD2 Zornitza Stark Phenotypes for gene: LMBRD2 were changed from Global developmental delay; Intellectual disability; Microcephaly; Seizures; Abnormality of nervous system morphology; Abnormality of the eye to Developmental delay with variable neurologic and brain abnormalities, MIM# 619694; Global developmental delay; Intellectual disability; Microcephaly; Seizures; Abnormality of nervous system morphology; Abnormality of the eye
Mendeliome v0.10639 LMBRD2 Zornitza Stark edited their review of gene: LMBRD2: Changed phenotypes: Developmental delay with variable neurologic and brain abnormalities, MIM# 619694, Global developmental delay, Intellectual disability, Microcephaly, Seizures, Abnormality of nervous system morphology, Abnormality of the eye
Mendeliome v0.10639 OGDHL Zornitza Stark Phenotypes for gene: OGDHL were changed from Neurodevelopmental disorder featuring epilepsy, hearing loss, visual impairment, and ataxia to Yoon-Bellen neurodevelopmental syndrome, MIM# 619701; Neurodevelopmental disorder featuring epilepsy, hearing loss, visual impairment, and ataxia
Mendeliome v0.10638 OGDHL Zornitza Stark reviewed gene: OGDHL: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Yoon-Bellen neurodevelopmental syndrome, MIM# 619701; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.10638 ANAPC7 Zornitza Stark Marked gene: ANAPC7 as ready
Mendeliome v0.10638 ANAPC7 Zornitza Stark Gene: anapc7 has been classified as Amber List (Moderate Evidence).
Mendeliome v0.10638 ANAPC7 Zornitza Stark Classified gene: ANAPC7 as Amber List (moderate evidence)
Mendeliome v0.10638 ANAPC7 Zornitza Stark Gene: anapc7 has been classified as Amber List (Moderate Evidence).
Mendeliome v0.10637 ANAPC7 Zornitza Stark gene: ANAPC7 was added
gene: ANAPC7 was added to Mendeliome. Sources: Literature
Mode of inheritance for gene: ANAPC7 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ANAPC7 were set to 34942119
Phenotypes for gene: ANAPC7 were set to Ferguson-Bonni neurodevelopmental syndrome, MIM# 619699
Review for gene: ANAPC7 was set to AMBER
Added comment: 11 individuals of Amish heritage reported homozygous for an intragenic deletion. Clinical features included ID, hypotonia, deafness in 5, relatively small head size (but microcephaly only in 1), and occasional congenital anomalies.

Supportive mouse model.

Amber rating in light of this being a founder variant.
Sources: Literature
Mendeliome v0.10636 DLX5 Zornitza Stark Marked gene: DLX5 as ready
Mendeliome v0.10636 DLX5 Zornitza Stark Gene: dlx5 has been classified as Green List (High Evidence).
Mendeliome v0.10636 DLX5 Zornitza Stark Phenotypes for gene: DLX5 were changed from to Split-hand/foot malformation 1 with sensorineural hearing loss MIM#220600; Split-hand/foot malformation 1 MIM#183600
Mendeliome v0.10635 DLX5 Zornitza Stark Publications for gene: DLX5 were set to
Mendeliome v0.10634 DLX5 Zornitza Stark Mode of inheritance for gene: DLX5 was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Mendeliome v0.10633 DLX5 Zornitza Stark changed review comment from: A homozygous missense mutation (Q178P) was identified in 2 affected sisters from a consanguineous Yemeni family with split-hand/foot malformation and hearing loss, who had no detectable chromosomal aberration, Shamseldin et al. (2012).

A heterozygosity missense mutation (Q186H) was identified in a 31-year-old Chinese woman with SHFM, Wang et al. (2014).
A heterozygosity nonsense mutationIn (E39X) was identified in the probands from 2 unrelated Polish families with isolated SHFM, Sowinska-Seidler et al. (2014).

Animal model evidence - mouse; to: A homozygous missense mutation (Q178P) was identified in 2 affected sisters from a consanguineous Yemeni family with split-hand/foot malformation and hearing loss, who had no detectable chromosomal aberration, Shamseldin et al. (2012).

A heterozygosity missense mutation (Q186H) was identified in a 31-year-old Chinese woman with SHFM, Wang et al. (2014).
A heterozygosity nonsense mutationIn (E39X) was identified in the probands from 2 unrelated Polish families with isolated SHFM, Sowinska-Seidler et al. (2014).

Animal model evidence - mouse

Green for mono-allelic, Amber for bi-allelic.
Mendeliome v0.10633 DLX5 Zornitza Stark reviewed gene: DLX5: Rating: GREEN; Mode of pathogenicity: None; Publications: 22121204, 24496061, 25196357, 20534536, 12112878; Phenotypes: Split-hand/foot malformation 1 with sensorineural hearing loss MIM#220600, Split-hand/foot malformation 1 MIM#183600; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Mendeliome v0.10633 DISP1 Zornitza Stark Phenotypes for gene: DISP1 were changed from Holoprosencephaly to Holoprosencephaly, MONDO:0016296
Mendeliome v0.10632 GUCY2C Zornitza Stark Marked gene: GUCY2C as ready
Mendeliome v0.10632 GUCY2C Zornitza Stark Gene: gucy2c has been classified as Green List (High Evidence).
Mendeliome v0.10632 GUCY2C Zornitza Stark Phenotypes for gene: GUCY2C were changed from to Diarrhoea 6, MIM# 614616; Meconium ileus, MIM# 614665
Mendeliome v0.10631 GUCY2C Zornitza Stark Publications for gene: GUCY2C were set to
Mendeliome v0.10630 GUCY2C Zornitza Stark Mode of inheritance for gene: GUCY2C was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Mendeliome v0.10629 GUCY2C Zornitza Stark reviewed gene: GUCY2C: Rating: GREEN; Mode of pathogenicity: None; Publications: 22521417, 22436048, 25994218, 30353760, 28957388, 22521417, 33883099, 31079856; Phenotypes: Diarrhoea 6, MIM# 614616, Meconium ileus, MIM# 614665; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Mendeliome v0.10629 GPC3 Zornitza Stark Marked gene: GPC3 as ready
Mendeliome v0.10629 GPC3 Zornitza Stark Gene: gpc3 has been classified as Green List (High Evidence).
Mendeliome v0.10629 GPC3 Zornitza Stark Phenotypes for gene: GPC3 were changed from to Simpson-Golabi-Behmel syndrome, type 1, MIM# 312870
Mendeliome v0.10628 GPC3 Zornitza Stark Mode of inheritance for gene: GPC3 was changed from Unknown to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Mendeliome v0.10627 GPC3 Zornitza Stark reviewed gene: GPC3: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Simpson-Golabi-Behmel syndrome, type 1, MIM# 312870; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Mendeliome v0.10627 ICAM1 Ain Roesley reviewed gene: ICAM1: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None; Current diagnostic: yes
Mendeliome v0.10627 IRAK3 Ain Roesley reviewed gene: IRAK3: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None; Current diagnostic: yes
Mendeliome v0.10627 CAPN10 Ain Roesley reviewed gene: CAPN10: Rating: RED; Mode of pathogenicity: None; Publications: 31791003, 31292430; Phenotypes: ; Mode of inheritance: None; Current diagnostic: yes
Mendeliome v0.10627 PDCD10 Zornitza Stark Marked gene: PDCD10 as ready
Mendeliome v0.10627 PDCD10 Zornitza Stark Gene: pdcd10 has been classified as Green List (High Evidence).
Mendeliome v0.10627 PDCD10 Zornitza Stark Phenotypes for gene: PDCD10 were changed from to Cerebral cavernous malformations 3 MIM#603285
Mendeliome v0.10626 PDCD10 Zornitza Stark Publications for gene: PDCD10 were set to
Mendeliome v0.10625 PDCD10 Zornitza Stark Mode of inheritance for gene: PDCD10 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.10624 PDCD10 Zornitza Stark reviewed gene: PDCD10: Rating: GREEN; Mode of pathogenicity: None; Publications: 30356112, 15543491; Phenotypes: Cerebral cavernous malformations 3 MIM#603285; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.10624 LGI4 Zornitza Stark Marked gene: LGI4 as ready
Mendeliome v0.10624 LGI4 Zornitza Stark Gene: lgi4 has been classified as Green List (High Evidence).
Mendeliome v0.10624 LGI4 Zornitza Stark Phenotypes for gene: LGI4 were changed from to Arthrogryposis multiplex congenita, neurogenic, with myelin defect, MIM#617468
Mendeliome v0.10623 LGI4 Zornitza Stark Publications for gene: LGI4 were set to
Mendeliome v0.10622 LGI4 Zornitza Stark Mode of inheritance for gene: LGI4 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.10621 LGI4 Zornitza Stark reviewed gene: LGI4: Rating: GREEN; Mode of pathogenicity: None; Publications: 28318499, 34288120; Phenotypes: Arthrogryposis multiplex congenita, neurogenic, with myelin defect, MIM#617468; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.10621 LFNG Zornitza Stark Marked gene: LFNG as ready
Mendeliome v0.10621 LFNG Zornitza Stark Gene: lfng has been classified as Green List (High Evidence).
Mendeliome v0.10621 LFNG Zornitza Stark Phenotypes for gene: LFNG were changed from to Spondylocostal dysostosis 3, autosomal recessive, MIM# 609813
Mendeliome v0.10620 LFNG Zornitza Stark Publications for gene: LFNG were set to
Mendeliome v0.10619 LFNG Zornitza Stark Mode of inheritance for gene: LFNG was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.10618 LFNG Zornitza Stark reviewed gene: LFNG: Rating: GREEN; Mode of pathogenicity: None; Publications: 9690472, 16385447, 30531807, 9690473; Phenotypes: Spondylocostal dysostosis 3, autosomal recessive, MIM# 609813; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.10618 SLC39A7 Zornitza Stark Phenotypes for gene: SLC39A7 were changed from Antibody deficiency; early onset infections; blistering dermatosis; failure to thrive; thrombocytopaenia to Agammaglobulinaemia 9, autosomal recessive, MIM# 619693; Antibody deficiency; early onset infections; blistering dermatosis; failure to thrive; thrombocytopaenia
Mendeliome v0.10617 SLC39A7 Zornitza Stark edited their review of gene: SLC39A7: Changed phenotypes: Agammaglobulinemia 9, autosomal recessive, MIM# 619693, Antibody deficiency, early onset infections, blistering dermatosis, failure to thrive, thrombocytopaenia
Mendeliome v0.10617 RNF220 Zornitza Stark Phenotypes for gene: RNF220 were changed from Leukodystrophy; CNS hypomyelination; Ataxia; Intellectual disability; Sensorineural hearing impairment; Elevated hepatic transaminases; Hepatic fibrosis; Dilated cardiomyopathy; Spastic paraplegia; Dysarthria; Abnormality of the corpus callosum to Leukodystrophy, hypomyelinating, 23, with ataxia, deafness, liver dysfunction, and dilated cardiomyopathy, MIM# 619688; Leukodystrophy; CNS hypomyelination; Ataxia; Intellectual disability; Sensorineural hearing impairment; Elevated hepatic transaminases; Hepatic fibrosis; Dilated cardiomyopathy; Spastic paraplegia; Dysarthria; Abnormality of the corpus callosum
Mendeliome v0.10616 RNF220 Zornitza Stark edited their review of gene: RNF220: Changed phenotypes: Leukodystrophy, hypomyelinating, 23, with ataxia, deafness, liver dysfunction, and dilated cardiomyopathy, MIM# 619688, Leukodystrophy, CNS hypomyelination, Ataxia, Intellectual disability, Sensorineural hearing impairment, Elevated hepatic transaminases, Hepatic fibrosis, Dilated cardiomyopathy, Spastic paraplegia, Dysarthria, Abnormality of the corpus callosum
Mendeliome v0.10616 SLC33A1 Zornitza Stark Marked gene: SLC33A1 as ready
Mendeliome v0.10616 SLC33A1 Zornitza Stark Gene: slc33a1 has been classified as Green List (High Evidence).
Mendeliome v0.10616 SLC33A1 Zornitza Stark Phenotypes for gene: SLC33A1 were changed from to Congenital cataracts, hearing loss, and neurodegeneration, MIM# 614482; Spastic paraplegia 42, autosomal dominant, MIM# 612539
Mendeliome v0.10615 SLC33A1 Zornitza Stark Publications for gene: SLC33A1 were set to
Mendeliome v0.10614 SLC33A1 Zornitza Stark Mode of inheritance for gene: SLC33A1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.10613 SLC33A1 Zornitza Stark reviewed gene: SLC33A1: Rating: GREEN; Mode of pathogenicity: None; Publications: 31194315, 19061983, 20461110; Phenotypes: Congenital cataracts, hearing loss, and neurodegeneration, MIM# 614482, Spastic paraplegia 42, autosomal dominant, MIM# 612539; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.10613 ITPKC Zornitza Stark Marked gene: ITPKC as ready
Mendeliome v0.10613 ITPKC Zornitza Stark Gene: itpkc has been classified as Red List (Low Evidence).
Mendeliome v0.10613 ITPKC Zornitza Stark Publications for gene: ITPKC were set to
Mendeliome v0.10612 ITPKC Zornitza Stark Classified gene: ITPKC as Red List (low evidence)
Mendeliome v0.10612 ITPKC Zornitza Stark Gene: itpkc has been classified as Red List (Low Evidence).
Mendeliome v0.10611 MAMLD1 Zornitza Stark Marked gene: MAMLD1 as ready
Mendeliome v0.10611 MAMLD1 Zornitza Stark Gene: mamld1 has been classified as Green List (High Evidence).
Mendeliome v0.10611 MAMLD1 Zornitza Stark Phenotypes for gene: MAMLD1 were changed from to Hypospadias 2 (MIM#300758)
Mendeliome v0.10610 MAMLD1 Zornitza Stark Publications for gene: MAMLD1 were set to
Mendeliome v0.10609 MAMLD1 Zornitza Stark Mode of inheritance for gene: MAMLD1 was changed from Unknown to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Mendeliome v0.10608 MAMLD1 Zornitza Stark reviewed gene: MAMLD1: Rating: GREEN; Mode of pathogenicity: None; Publications: 26815876, 31555317, 32690052; Phenotypes: Hypospadias 2 (MIM#300758); Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Mendeliome v0.10608 INPP5K Zornitza Stark Marked gene: INPP5K as ready
Mendeliome v0.10608 INPP5K Zornitza Stark Gene: inpp5k has been classified as Green List (High Evidence).
Mendeliome v0.10608 INPP5K Zornitza Stark Phenotypes for gene: INPP5K were changed from to Muscular dystrophy, congenital, with cataracts and intellectual disability MIM#617404
Mendeliome v0.10607 INPP5K Zornitza Stark Publications for gene: INPP5K were set to
Mendeliome v0.10606 INPP5K Zornitza Stark Mode of inheritance for gene: INPP5K was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.10605 IGFBP7 Zornitza Stark Marked gene: IGFBP7 as ready
Mendeliome v0.10605 IGFBP7 Zornitza Stark Gene: igfbp7 has been classified as Amber List (Moderate Evidence).
Mendeliome v0.10605 IGFBP7 Zornitza Stark Phenotypes for gene: IGFBP7 were changed from to Retinal arterial macroaneurysm with supravalvular pulmonic stenosis MIM#614224
Mendeliome v0.10604 IGFBP7 Zornitza Stark Publications for gene: IGFBP7 were set to
Mendeliome v0.10603 IGFBP7 Zornitza Stark Mode of inheritance for gene: IGFBP7 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.10602 IGFBP7 Zornitza Stark Classified gene: IGFBP7 as Amber List (moderate evidence)
Mendeliome v0.10602 IGFBP7 Zornitza Stark Gene: igfbp7 has been classified as Amber List (Moderate Evidence).
Mendeliome v0.10601 IGFBP7 Zornitza Stark Tag founder tag was added to gene: IGFBP7.
Mendeliome v0.10601 IGFBP7 Zornitza Stark reviewed gene: IGFBP7: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: Retinal arterial macroaneurysm with supravalvular pulmonic stenosis MIM#614224; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.10601 NSD2 Zornitza Stark Phenotypes for gene: NSD2 were changed from Microcephaly; intellectual disability to Rauch-Steindl syndrome, MIM# 619695; Microcephaly; intellectual disability
Mendeliome v0.10600 NSD2 Zornitza Stark edited their review of gene: NSD2: Changed phenotypes: Rauch-Steindl syndrome, MIM# 619695, Microcephaly, intellectual disability
Mendeliome v0.10600 KISS1R Zornitza Stark Marked gene: KISS1R as ready
Mendeliome v0.10600 KISS1R Zornitza Stark Gene: kiss1r has been classified as Green List (High Evidence).
Mendeliome v0.10600 KISS1R Zornitza Stark Phenotypes for gene: KISS1R were changed from to Hypogonadotropic hypogonadism 8 with or without anosmia (MIM#614837)
Mendeliome v0.10599 KISS1R Zornitza Stark Publications for gene: KISS1R were set to
Mendeliome v0.10598 KISS1R Zornitza Stark Mode of inheritance for gene: KISS1R was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.10597 KISS1R Zornitza Stark reviewed gene: KISS1R: Rating: GREEN; Mode of pathogenicity: None; Publications: 17164310, 31073722, 14573733; Phenotypes: Hypogonadotropic hypogonadism 8 with or without anosmia (MIM#614837); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.10597 IDH1 Zornitza Stark Marked gene: IDH1 as ready
Mendeliome v0.10597 IDH1 Zornitza Stark Gene: idh1 has been classified as Green List (High Evidence).
Mendeliome v0.10597 IDH1 Zornitza Stark Phenotypes for gene: IDH1 were changed from Ollier disease MONDO:0008145; Maffucci syndromeMONDO:0013808 to Ollier disease MONDO:0008145; Maffucci syndrome MONDO:0013808
Mendeliome v0.10596 IDH1 Zornitza Stark Phenotypes for gene: IDH1 were changed from to Ollier disease MONDO:0008145; Maffucci syndromeMONDO:0013808
Mendeliome v0.10595 IDH1 Zornitza Stark Publications for gene: IDH1 were set to
Mendeliome v0.10594 IDH1 Zornitza Stark Mode of inheritance for gene: IDH1 was changed from Unknown to Other
Mendeliome v0.10593 IDH1 Zornitza Stark Tag somatic tag was added to gene: IDH1.
Mendeliome v0.10593 HNRNPH2 Zornitza Stark Marked gene: HNRNPH2 as ready
Mendeliome v0.10593 HNRNPH2 Zornitza Stark Gene: hnrnph2 has been classified as Green List (High Evidence).
Mendeliome v0.10593 HNRNPH2 Zornitza Stark Phenotypes for gene: HNRNPH2 were changed from to Intellectual developmental disorder, X-linked, syndromic, Bain type MIM#300986
Mendeliome v0.10592 HNRNPH2 Zornitza Stark Publications for gene: HNRNPH2 were set to
Mendeliome v0.10591 HNRNPH2 Zornitza Stark Mode of inheritance for gene: HNRNPH2 was changed from Unknown to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Mendeliome v0.10590 KCNT1 Zornitza Stark Marked gene: KCNT1 as ready
Mendeliome v0.10590 KCNT1 Zornitza Stark Gene: kcnt1 has been classified as Green List (High Evidence).
Mendeliome v0.10590 KCNT1 Zornitza Stark Phenotypes for gene: KCNT1 were changed from to Epilepsy, nocturnal frontal lobe, 5, MIM# 615005; Epileptic encephalopathy, early infantile, 14, MIM# 614959
Mendeliome v0.10589 KCNT1 Zornitza Stark Publications for gene: KCNT1 were set to
Mendeliome v0.10588 KCNT1 Zornitza Stark Mode of inheritance for gene: KCNT1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.10587 KCNT1 Zornitza Stark reviewed gene: KCNT1: Rating: GREEN; Mode of pathogenicity: None; Publications: 23086397, 23086396, 31872048, 31532509; Phenotypes: Epilepsy, nocturnal frontal lobe, 5, MIM# 615005, Epileptic encephalopathy, early infantile, 14, MIM# 614959; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.10587 ITPKC Ain Roesley changed review comment from: Currently no mendelian gene-disease assocation. Best known for polymorphisms associated with Kawasaki disease susceptibility.

KO mouse models looking at protein expression and effect on multiciliary beating frequency and spermatozoa, no significant defects in both; to: Currently no mendelian gene-disease association. Best known for polymorphisms associated with Kawasaki disease susceptibility.

KO mouse models looking at tissue protein expression and effect on multiciliary beating frequency and spermatozoa, no significant defects in both
Mendeliome v0.10587 ITPKC Ain Roesley reviewed gene: ITPKC: Rating: RED; Mode of pathogenicity: None; Publications: 32283413, 29098351, 27036498; Phenotypes: ; Mode of inheritance: None; Current diagnostic: yes
Mendeliome v0.10587 ATP5A1 Zornitza Stark Mode of inheritance for gene: ATP5A1 was changed from BIALLELIC, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Mendeliome v0.10586 PRKAR1B Zornitza Stark Phenotypes for gene: PRKAR1B were changed from Global developmental delay; Intellectual disability; Autism; Attention deficit hyperactivity disorder; Aggressive behavior; Abnormality of movement; Upslanted palpebral fissure to Marbach-Schaaf neurodevelopmental syndrome MIM#619680; Global developmental delay; Intellectual disability; Autism; Attention deficit hyperactivity disorder; Aggressive behavior; Abnormality of movement; Upslanted palpebral fissure
Mendeliome v0.10585 PRKAR1B Zornitza Stark Mode of inheritance for gene: PRKAR1B was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.10584 NAA10 Zornitza Stark Phenotypes for gene: NAA10 were changed from Microphthalmia, syndromic 1 309800 to Microphthalmia, syndromic 1, MIM# 309800; Ogden syndrome MIM#300855
Mendeliome v0.10583 NAA10 Zornitza Stark Publications for gene: NAA10 were set to 30842225
Mendeliome v0.10582 TOPORS Zornitza Stark Phenotypes for gene: TOPORS were changed from Retinitis pigmentosa 31 (MIM#609923) to Retinitis pigmentosa 31 (MIM#609923); Ciliopathy, MONDO:0005308, TOPORS-associated, AR
Mendeliome v0.10581 TOPORS Zornitza Stark Publications for gene: TOPORS were set to 21159800; 17924349; 28453362; 18509552
Mendeliome v0.10580 TOPORS Zornitza Stark Mode of inheritance for gene: TOPORS was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Mendeliome v0.10579 TLR8 Zornitza Stark Phenotypes for gene: TLR8 were changed from Immunodeficiency; bone marrow failure to Immunodeficiency; bone marrow failure; Autoinflammatory syndrome MONDO:0019751
Mendeliome v0.10578 TLR8 Zornitza Stark Publications for gene: TLR8 were set to 33512449
Mendeliome v0.10577 TLR8 Zornitza Stark edited their review of gene: TLR8: Added comment: PMID 34981838: Monozygotic male twins, hemizygous for the G572V (maternally inherited), who suffer from severe autoimmune haemolytic anemia (AIHA) worsening with infections, and autoinflammation presenting as fevers, enteritis, arthritis and CNS vasculitis. Functional showed variant causes impaired stability of the TLR8 protein, cross-reactivity to TLR7 ligands and reduced ability of TLR8 to attenuate TLR7 signaling.; Changed publications: 33512449, 34981838; Changed phenotypes: Immunodeficiency, bone marrow failure, Autoinflammatory syndrome MONDO:0019751
Mendeliome v0.10577 MARS Zornitza Stark Phenotypes for gene: MARS were changed from Interstitial lung and liver disease, MIM#615486; Charcot-Marie-Tooth disease, axonal, type 2U, MIM# 616280; Trichothiodystrophy, MONDO:0018053 to Interstitial lung and liver disease, MIM#615486; Charcot-Marie-Tooth disease, axonal, type 2U, MIM# 616280; Trichothiodystrophy 9, nonphotosensitive, MIM# 619692
Mendeliome v0.10576 AARS Zornitza Stark Phenotypes for gene: AARS were changed from Epileptic encephalopathy, early infantile, 29, MIM# 616339; Charcot-Marie-Tooth disease, axonal, type 2N, MIM# 613287; trichothiodystrophy, MONDO:0018053; Leukoencephalopathy, hereditary diffuse, with spheroids 2, MIM# 619661 to Epileptic encephalopathy, early infantile, 29, MIM# 616339; Charcot-Marie-Tooth disease, axonal, type 2N, MIM# 613287; Spastic paraplegia 85, autosomal recessive, MIM# 619686; Ataxia, sensory, 1, autosomal dominant, MIM# 608984; Leukoencephalopathy, hereditary diffuse, with spheroids 2, MIM# 619661
Mendeliome v0.10575 RNF170 Zornitza Stark Marked gene: RNF170 as ready
Mendeliome v0.10575 RNF170 Zornitza Stark Gene: rnf170 has been classified as Green List (High Evidence).
Mendeliome v0.10575 RNF170 Zornitza Stark Phenotypes for gene: RNF170 were changed from to Spastic paraplegia 85, autosomal recessive, MIM# 619686; Ataxia, sensory, 1, autosomal dominant, MIM# 608984
Mendeliome v0.10574 RNF170 Zornitza Stark Mode of inheritance for gene: RNF170 was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Mendeliome v0.10573 RNF170 Zornitza Stark reviewed gene: RNF170: Rating: GREEN; Mode of pathogenicity: None; Publications: 31636353, 21115467, 32943585; Phenotypes: Spastic paraplegia 85, autosomal recessive, MIM# 619686, Ataxia, sensory, 1, autosomal dominant, MIM# 608984; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Mendeliome v0.10573 INPP5K Ain Roesley changed review comment from: At least 20 probands reported thus far.
Noted that Val23Met is an Italian founder mutation and Ile50thr is a Paskitani/Bangladeshi founder; to: At least 20 probands reported thus far.
Noted that Val23Met is an Italian founder mutation and Ile50thr is a Pakistani/Bangladeshi founder
Mendeliome v0.10573 INPP5K Ain Roesley changed review comment from: At least 20 probands reported thus far.
Noted that Val23Met is an Italian founder mutation; to: At least 20 probands reported thus far.
Noted that Val23Met is an Italian founder mutation and Ile50thr is a Paskitani/Bangladeshi founder
Mendeliome v0.10573 INPP5K Ain Roesley reviewed gene: INPP5K: Rating: GREEN; Mode of pathogenicity: None; Publications: 28190456, 28190459, 28940338, 31630891, 33193651, 33792664; Phenotypes: Muscular dystrophy, congenital, with cataracts and intellectual disability MIM#617404; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Mendeliome v0.10573 IGFBP7 Ain Roesley reviewed gene: IGFBP7: Rating: RED; Mode of pathogenicity: None; Publications: 34519236, 31730227, 32429784; Phenotypes: Retinal arterial macroaneurysm with supravalvular pulmonic stenosis MIM#614224; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Mendeliome v0.10573 VPS50 Zornitza Stark Phenotypes for gene: VPS50 were changed from Neonatal cholestatic liver disease; Failure to thrive; Profound global developmental delay; Postnatal microcephaly; Seizures; Abnormality of the corpus callosum to Neurodevelopmental disorder with microcephaly, seizures, and neonatal cholestasis , MIM#619685; Neonatal cholestatic liver disease; Failure to thrive; Profound global developmental delay; Postnatal microcephaly; Seizures; Abnormality of the corpus callosum
Mendeliome v0.10572 VPS50 Zornitza Stark edited their review of gene: VPS50: Changed phenotypes: Neurodevelopmental disorder with microcephaly, seizures, and neonatal cholestasis , MIM#619685, Neonatal cholestatic liver disease, Failure to thrive, Profound global developmental delay, Postnatal microcephaly, Seizures, Abnormality of the corpus callosum
Mendeliome v0.10572 ATP5G3 Zornitza Stark Tag new gene name tag was added to gene: ATP5G3.
Mendeliome v0.10572 AARS Zornitza Stark Phenotypes for gene: AARS were changed from Epileptic encephalopathy, early infantile, 29, MIM# 616339; Charcot-Marie-Tooth disease, axonal, type 2N, MIM# 613287; trichothiodystrophy, MONDO:0018053 to Epileptic encephalopathy, early infantile, 29, MIM# 616339; Charcot-Marie-Tooth disease, axonal, type 2N, MIM# 613287; trichothiodystrophy, MONDO:0018053; Leukoencephalopathy, hereditary diffuse, with spheroids 2, MIM# 619661
Mendeliome v0.10571 AARS Zornitza Stark Publications for gene: AARS were set to 28493438; 25817015; 20045102; 22009580; 22206013; 30373780; 26032230; 33909043
Mendeliome v0.10570 AARS Zornitza Stark edited their review of gene: AARS: Added comment: PMID 31775912: single multigenerational family with leukoencephalopathy segregating AARS1 variant.; Changed publications: 28493438, 25817015, 20045102, 22009580, 22206013, 30373780, 26032230, 31775912; Changed phenotypes: Epileptic encephalopathy, early infantile, 29, MIM# 616339, Charcot-Marie-Tooth disease, axonal, type 2N, MIM# 613287, Leukoencephalopathy, hereditary diffuse, with spheroids 2, MIM# 619661
Mendeliome v0.10570 IDH1 Ain Roesley reviewed gene: IDH1: Rating: GREEN; Mode of pathogenicity: None; Publications: 34393643, 34588213, 34624834, 34720940, 32727816; Phenotypes: Ollier disease MONDO:0008145, Maffucci syndromeMONDO:0013808; Mode of inheritance: Other; Current diagnostic: yes
Mendeliome v0.10570 HNRNPH2 Ain Roesley reviewed gene: HNRNPH2: Rating: GREEN; Mode of pathogenicity: None; Publications: 34907471, 33728377, 31670473, 31236915, 30887513; Phenotypes: Intellectual developmental disorder, X-linked, syndromic, Bain type MIM#300986; Mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males); Current diagnostic: yes
Mendeliome v0.10570 CRACR2A Zornitza Stark Marked gene: CRACR2A as ready
Mendeliome v0.10570 CRACR2A Zornitza Stark Added comment: Comment when marking as ready: Single individual.
Mendeliome v0.10570 CRACR2A Zornitza Stark Gene: cracr2a has been classified as Red List (Low Evidence).
Mendeliome v0.10570 CRACR2A Zornitza Stark Phenotypes for gene: CRACR2A were changed from Late onset combined immunodeficiency to primary immunodeficiency disease, MONDO:0003778, CRACR2A-associated; Late onset combined immunodeficiency
Mendeliome v0.10569 IFT140 Zornitza Stark Publications for gene: IFT140 were set to 22503633; 23418020; 28288023; 28724397; 26216056; 26968735
Mendeliome v0.10568 IFT140 Zornitza Stark Mode of inheritance for gene: IFT140 was changed from BIALLELIC, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Mendeliome v0.10567 PRDM13 Zornitza Stark Tag founder tag was added to gene: PRDM13.
Mendeliome v0.10567 PRDM13 Zornitza Stark Phenotypes for gene: PRDM13 were changed from Retinal dystrophy; Chorioretinal atrophy, progressive bifocal, MIM# 600790 to Retinal dystrophy; Chorioretinal atrophy, progressive bifocal, MIM# 600790; intellectual disability, MONDO:0001071, PRDM13-associated; ataxia with cerebellar hypoplasia, MONDO:0016054, PRDM13-associated; congenital hypogonadotropic hypogonadism, MONDO:0015770
Mendeliome v0.10566 PRDM13 Zornitza Stark Publications for gene: PRDM13 were set to 30710461
Mendeliome v0.10565 PRDM13 Zornitza Stark Mode of inheritance for gene: PRDM13 was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Mendeliome v0.10564 PRDM13 Zornitza Stark Marked gene: PRDM13 as ready
Mendeliome v0.10564 PRDM13 Zornitza Stark Added comment: Comment when marking as ready: Bi-allelic variants: Recessive disease causing ID and DSD described in three reportedly unrelated families (2 consanguineous), but all are from Malta, and all share the same 13bp deletion spanning an exon-intron boundary. Mouse KO is embryonically lethal, and tissue specific KO failed to replicate many of the patients phenotypes, other than hypoplasia of the cerebellar vermis and hemispheres at P21.
Mendeliome v0.10564 PRDM13 Zornitza Stark Gene: prdm13 has been classified as Green List (High Evidence).
Mendeliome v0.10564 PI4KA Zornitza Stark Publications for gene: PI4KA were set to 25855803; 34415322
Mendeliome v0.10563 ATP5A1 Naomi Baker edited their review of gene: ATP5A1: Added comment: PMID: 34954817 reports three individuals with de novo monoallelic missense variants. One of these is the recurrent p.(Arg207His) variant while the other two variants are different substitutions. The three patients presented with a variable phenotypes: (1) a 14-year-old girl who presented during the first few months of life with developmental delay, failure-to-thrive, and lactic acidosis. She recovered and had no persistent neurologic phenotype; (2) a 17-year-old boy with psychomotor delay, intellectual disability, ataxia, spastic paraparesis, and dystonia; (3) a 12-year-old girl with psychomotor retardation, spastic tetraparesis, generalized dystonia, absent speech, swallowing problems, and increased blood lactate concentrations. Enzymatic investigations of muscle tissue from patient 1 showed a decrease in ATPase activity.; Changed publications: PMID: 34954817
Mendeliome v0.10563 ATP5G3 Seb Lunke Marked gene: ATP5G3 as ready
Mendeliome v0.10563 ATP5G3 Seb Lunke Gene: atp5g3 has been classified as Green List (High Evidence).
Mendeliome v0.10563 ATP5G3 Seb Lunke Publications for gene: ATP5G3 were set to PMID: 34636445
Mendeliome v0.10562 ATP5G3 Seb Lunke Classified gene: ATP5G3 as Green List (high evidence)
Mendeliome v0.10562 ATP5G3 Seb Lunke Gene: atp5g3 has been classified as Green List (High Evidence).
Mendeliome v0.10561 ATP5G3 Naomi Baker edited their review of gene: ATP5G3: Added comment: Note that HGNC approved gene name is ATP5MC3.

PMID: 34636445 reports a missense variant identified in a large single-family pedigree with dystonia and spastic paraplegia. The variant was identified via exome sequencing of the proband and a distant cousin, focussing on variants within the previously determined linkage region. The identical missense variant was also identified in a patient with childhood onset dystonic syndrome and was shown to be de novo. Functional studies of fibroblast cell lines from affected father (HSP) and proband of large family demonstrated decreased complex V function. A drosophila model containing the missense variant had reduced mobility and reduced complex V activity.

PMID: 34954817 reports de novo monoallelic missense variants in three individuals, however one of these individuals was reported in above paper. The other two patients were: (1) a-15-year-old girl with milestone delay, pyramidal signs, and generalized dystonia with prominent upper-body involvement, and (2) a 6-year-old boy with delayed psychomotor development, lower-extremity spasticity, and elevated blood lactate levels; Changed rating: GREEN; Changed publications: PMID: 34636445, 34954817
Mendeliome v0.10561 PRDM13 Seb Lunke reviewed gene: PRDM13: Rating: AMBER; Mode of pathogenicity: None; Publications: 34730112; Phenotypes: intellectual disability, MONDO:0001071, PRDM13-associated, ataxia with cerebellar hypoplasia, MONDO:MONDO:0016054. PRDM13-associated, congenital hypogonadotropic hypogonadism, MONDO:0015770 Edit; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.10561 CCND2 Alison Yeung Marked gene: CCND2 as ready
Mendeliome v0.10561 CCND2 Alison Yeung Gene: ccnd2 has been classified as Green List (High Evidence).
Mendeliome v0.10561 CCND2 Alison Yeung Phenotypes for gene: CCND2 were changed from to Neurodevelopmental disorder, CCND2-related MONDO: 0700092; Microcephaly, MONDO: 0001149; Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 3, MIM# 615938
Mendeliome v0.10560 CCND2 Alison Yeung Mode of inheritance for gene: CCND2 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.10559 IFT140 Alison Yeung Phenotypes for gene: IFT140 were changed from Short-rib thoracic dysplasia 9 with or without polydactyly, MIM# 266920; MONDO:0009964; Retinitis pigmentosa 80, MIM# 617781 to Short-rib thoracic dysplasia 9 with or without polydactyly, MIM# 266920; MONDO:0009964; Retinitis pigmentosa 80, MIM# 617781; Cystic Kidney Disease, MONDO: 0002473
Mendeliome v0.10558 PPIA Seb Lunke Marked gene: PPIA as ready
Mendeliome v0.10558 PPIA Seb Lunke Gene: ppia has been classified as Red List (Low Evidence).
Mendeliome v0.10558 ATP5G3 Naomi Baker gene: ATP5G3 was added
gene: ATP5G3 was added to Mendeliome. Sources: Literature
Mode of inheritance for gene: ATP5G3 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: ATP5G3 were set to PMID: 34636445
Phenotypes for gene: ATP5G3 were set to Dystonia, early-onset, and/or spastic paraplegia, MIM#619681
Review for gene: ATP5G3 was set to AMBER
Added comment: Note that new gene name is ATP5MC3.

Paper reports the same missense variant identified in a large single-family pedigree with dystonia and spastic paraplegia, and also de novo in a patient with childhood onset dystonic syndrome. Drosophila model with missense variant also studied. Functional studies of fibroblast cells lines from affected father and proband demonstrated decreased complex V function.
Sources: Literature
Mendeliome v0.10558 RPL10L Alison Yeung Marked gene: RPL10L as ready
Mendeliome v0.10558 RPL10L Alison Yeung Gene: rpl10l has been classified as Amber List (Moderate Evidence).
Mendeliome v0.10558 PPIA Seb Lunke Classified gene: PPIA as Red List (low evidence)
Mendeliome v0.10558 PPIA Seb Lunke Gene: ppia has been classified as Red List (Low Evidence).
Mendeliome v0.10558 RPL10L Alison Yeung Classified gene: RPL10L as Amber List (moderate evidence)
Mendeliome v0.10558 RPL10L Alison Yeung Added comment: Comment on list classification: heterozygous variants in three unrelated patients presenting with azoospermia. Given the common phenotype, need a few more cases to convert to green list.
Mendeliome v0.10558 RPL10L Alison Yeung Gene: rpl10l has been classified as Amber List (Moderate Evidence).
Mendeliome v0.10557 DNHD1 Seb Lunke Marked gene: DNHD1 as ready
Mendeliome v0.10557 DNHD1 Seb Lunke Gene: dnhd1 has been classified as Green List (High Evidence).
Mendeliome v0.10557 DNHD1 Seb Lunke Classified gene: DNHD1 as Green List (high evidence)
Mendeliome v0.10557 DNHD1 Seb Lunke Gene: dnhd1 has been classified as Green List (High Evidence).
Mendeliome v0.10556 PRKAR1B Paul De Fazio reviewed gene: PRKAR1B: Rating: GREEN; Mode of pathogenicity: None; Publications: 33833410; Phenotypes: Marbach-Schaaf neurodevelopmental syndrome MIM#619680; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown; Current diagnostic: yes
Mendeliome v0.10556 NAA10 Ain Roesley Deleted their comment
Mendeliome v0.10556 NAA10 Ain Roesley edited their review of gene: NAA10: Added comment: For Ogden association:
lethal X-linked. 9 males from 3 families with recurrent Ser37Pro
All presenting the distinctive and recognizable phenotype, which includes mostly postnatal growth retardation, global severe developmental delay, characteristic craniofacial features, and structural cardiac anomalies and/or arrhythmias

For non-lethal syndromic ID:
reported in 10 males and (mostly de novo) in 37 females
variants causing this are missense located along the protein and 1 truncating

For syndromic microopththamia: variants are in the UTR; Changed mode of inheritance: Other
Mendeliome v0.10556 RPL10L Dean Phelan gene: RPL10L was added
gene: RPL10L was added to Mendeliome. Sources: Literature
Mode of inheritance for gene: RPL10L was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Publications for gene: RPL10L were set to PMID:32111475
Phenotypes for gene: RPL10L were set to MONDO_0004983, oligo-/azoospermia
Review for gene: RPL10L was set to AMBER
Added comment: PMID:32111475 - cohort study of patients with oligo-/azoospermia identified a homozygous variant in two brothers with severe oligozoospermia. Three additional patients with oligo-/azoospermia had heterozygous variants. No RPL10L variants were found in the fertile control subjects.

A further search did not identify additional publications.
Sources: Literature
Mendeliome v0.10556 SLC35F1 Seb Lunke Marked gene: SLC35F1 as ready
Mendeliome v0.10556 SLC35F1 Seb Lunke Gene: slc35f1 has been classified as Red List (Low Evidence).
Mendeliome v0.10556 SLC35F1 Seb Lunke Phenotypes for gene: SLC35F1 were changed from Rett-like syndrome to Neruodevelopmental disorder, MONDO:0700092, SLC35F1-associated; Rett-like syndrome
Mendeliome v0.10555 SLC35F1 Seb Lunke Classified gene: SLC35F1 as Red List (low evidence)
Mendeliome v0.10555 SLC35F1 Seb Lunke Gene: slc35f1 has been classified as Red List (Low Evidence).
Mendeliome v0.10554 MYH1 Seb Lunke Marked gene: MYH1 as ready
Mendeliome v0.10554 MYH1 Seb Lunke Gene: myh1 has been classified as Red List (Low Evidence).
Mendeliome v0.10554 CRACR2A Alison Yeung Marked gene: CRACR2A as ready
Mendeliome v0.10554 CRACR2A Alison Yeung Gene: cracr2a has been classified as Red List (Low Evidence).
Mendeliome v0.10554 PPIA Naomi Baker gene: PPIA was added
gene: PPIA was added to Mendeliome. Sources: Literature
Mode of inheritance for gene: PPIA was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: PPIA were set to PMID: 34972208
Phenotypes for gene: PPIA were set to amyotrophic lateral sclerosis, MONDO:0004976
Review for gene: PPIA was set to RED
Added comment: Paper characterizes a knockout mouse model that recapitulates key features of ALS-FTD. Also identified a heterozygous missense variant in one patient with sporadic amyotrophic lateral sclerosis. Functional studies of the missense variant suggest loss-of-function.
Sources: Literature
Mendeliome v0.10554 MYH1 Seb Lunke Phenotypes for gene: MYH1 were changed from recurrent rhabdomyolysis to rhabdomyolysis, MONDO:0005290
Mendeliome v0.10554 CRACR2A Alison Yeung Classified gene: CRACR2A as Red List (low evidence)
Mendeliome v0.10554 CRACR2A Alison Yeung Gene: cracr2a has been classified as Red List (Low Evidence).
Mendeliome v0.10553 DNHD1 Daniel Flanagan gene: DNHD1 was added
gene: DNHD1 was added to Mendeliome. Sources: Literature
Mode of inheritance for gene: DNHD1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: DNHD1 were set to 34932939
Phenotypes for gene: DNHD1 were set to Male infertility due to sperm motility disorder (MONDO:0018395)
Review for gene: DNHD1 was set to GREEN
Added comment: Biallelic DNHD1 variants identified in 8 unrelated probands with asthenoteratozoospermia, reduced sperm motility and abnormal sperm morphology. DNHD1 knockout mice were infertile and had significantly reduced sperm concentration and motility rates, consistent with human individuals.
Sources: Literature
Mendeliome v0.10553 MYH1 Seb Lunke Classified gene: MYH1 as Red List (low evidence)
Mendeliome v0.10553 MYH1 Seb Lunke Gene: myh1 has been classified as Red List (Low Evidence).
Mendeliome v0.10552 CCND2 Alison Yeung reviewed gene: CCND2: Rating: GREEN; Mode of pathogenicity: None; Publications: 34087052; Phenotypes: Neurodevelopmental disorder, CCND2-related MONDO# 0700092, Microcephaly, MONDO# 0001149; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.10552 NAA10 Ain Roesley reviewed gene: NAA10: Rating: GREEN; Mode of pathogenicity: None; Publications: 34075687, 21700266; Phenotypes: Ogden syndrome MIM#300855; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females; Current diagnostic: yes
Mendeliome v0.10552 TOPORS Dean Phelan reviewed gene: TOPORS: Rating: AMBER; Mode of pathogenicity: None; Publications: PMID:34132027; Phenotypes: Postaxial polydactyly:multiple lingual hamartomas:dysmorphic features; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.10552 PI4KA Paul De Fazio reviewed gene: PI4KA: Rating: GREEN; Mode of pathogenicity: None; Publications: 34415310; Phenotypes: Polymicrogyria, perisylvian, with cerebellar hypoplasia and arthrogryposis MIM#616531, Polymicrogyria, perisylvian, with cerebellar hypoplasia and arthrogryposis MONDO:0014679; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Mendeliome v0.10552 IFT140 Alison Yeung reviewed gene: IFT140: Rating: GREEN; Mode of pathogenicity: None; Publications: 34890546, 22503633, 23418020, 28288023, 28724397, 26216056, 26968735; Phenotypes: Short-rib thoracic dysplasia 9 with or without polydactyly, MIM# 266920, Retinitis pigmentosa 80, MIM# 617781, Cystic Kidney Disease, MONDO# 0002473; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Mendeliome v0.10552 SLC35F1 Ain Roesley gene: SLC35F1 was added
gene: SLC35F1 was added to Mendeliome. Sources: Literature
Mode of inheritance for gene: SLC35F1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: SLC35F1 were set to 33821533
Phenotypes for gene: SLC35F1 were set to Rett-like syndrome
Penetrance for gene: SLC35F1 were set to unknown
Review for gene: SLC35F1 was set to RED
gene: SLC35F1 was marked as current diagnostic
Added comment: WES found a de novo heterozygous c.1037T>C; p.(I346T) (absent in gnomad v2 and v3) in a female described to have Rett-like syndrome.

Global developmental delay, generalized tonic andtonic–clonic seizure, never acquired independent walking and developed spastictetraplegia in adulthood and limited speech

no protein functional work was performed
Sources: Literature
Mendeliome v0.10552 IFT140 Alison Yeung Deleted their review
Mendeliome v0.10552 CRACR2A Dean Phelan gene: CRACR2A was added
gene: CRACR2A was added to Mendeliome. Sources: Literature
Mode of inheritance for gene: CRACR2A was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: CRACR2A were set to PMID:34908525
Phenotypes for gene: CRACR2A were set to Late onset combined immunodeficiency
Review for gene: CRACR2A was set to AMBER
Added comment: PMID:34908525 - one patient compound het (missense and PTC) with late onset combined immunodeficiency (current chest infections, panhypogammaglobulinemia and CD4+T cell lymphopenia). Functional studies showed defective JNK phosphorylation, defective SOCE and impaired cytokine production.

Further search did not identify any additional publications.
Sources: Literature
Mendeliome v0.10552 IFT140 Alison Yeung reviewed gene: IFT140: Rating: GREEN; Mode of pathogenicity: None; Publications: 34890546; Phenotypes: cystic Kidney Disease, MONDO# 0002473; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Mendeliome v0.10552 MYH1 Ain Roesley gene: MYH1 was added
gene: MYH1 was added to Mendeliome. Sources: Literature
Mode of inheritance for gene: MYH1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: MYH1 were set to 33755318
Phenotypes for gene: MYH1 were set to recurrent rhabdomyolysis
Penetrance for gene: MYH1 were set to unknown
Review for gene: MYH1 was set to RED
gene: MYH1 was marked as current diagnostic
Added comment: 18 yr old male from a consaguineous family.
WES was performed and a homozygous c.1295A>C:p.K432T was found. Only 1 het in gnomad v2 and v3.
no protein functional work was done
Sources: Literature
Mendeliome v0.10552 GNAO1 Zornitza Stark Phenotypes for gene: GNAO1 were changed from Epileptic encephalopathy, early infantile, 17; Neurodevelopmental disorder with involuntary movements to Epileptic encephalopathy, early infantile, 17, MIM#615473; Neurodevelopmental disorder with involuntary movements, MIM# 617493
Mendeliome v0.10551 PAK2 Zornitza Stark Marked gene: PAK2 as ready
Mendeliome v0.10551 PAK2 Zornitza Stark Gene: pak2 has been classified as Red List (Low Evidence).
Mendeliome v0.10551 PAK2 Zornitza Stark Classified gene: PAK2 as Red List (low evidence)
Mendeliome v0.10551 PAK2 Zornitza Stark Gene: pak2 has been classified as Red List (Low Evidence).
Mendeliome v0.10550 PAK2 Arina Puzriakova gene: PAK2 was added
gene: PAK2 was added to Mendeliome. Sources: Literature
Mode of inheritance for gene: PAK2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: PAK2 were set to 33693784
Phenotypes for gene: PAK2 were set to Knobloch 2 syndrome
Review for gene: PAK2 was set to RED
Added comment: Antonarakis et al., 2021 (PMID: 33693784) reported two affected siblings from a non-consanguineous New Zealand family. Both had retinal detachment and interstitial parenchymal pulmonary changes on chest X-rays, but only one child had additional significant features such as cataract, posterior encephalocele, severe DD/ID with ASD, and epilepsy. WES revealed a heterozygous PAK2 variant (c.1303 G>A, p.Glu435Lys) in both individuals that apparently occurred de novo indicating parental germ-line mosaicism; however, mosaicism could not be detected by deep sequencing of blood parental DNA. Functional studies showed that the variant, located in the kinase domain, results in a partial loss of the kinase activity.
Sources: Literature
Mendeliome v0.10550 OGDH Zornitza Stark Phenotypes for gene: OGDH were changed from Developmental delay; ataxia; seizure; raised lactate to Oxoglutarate dehydrogenase deficiency, MIM# 203740; Developmental delay; ataxia; seizure; raised lactate
Mendeliome v0.10549 OGDH Zornitza Stark edited their review of gene: OGDH: Changed phenotypes: Oxoglutarate dehydrogenase deficiency, MIM# 203740, Developmental delay, ataxia, seizure, raised lactate
Mendeliome v0.10549 TBX2 Zornitza Stark Marked gene: TBX2 as ready
Mendeliome v0.10549 TBX2 Zornitza Stark Gene: tbx2 has been classified as Amber List (Moderate Evidence).
Mendeliome v0.10549 TBX2 Zornitza Stark Phenotypes for gene: TBX2 were changed from to Vertebral anomalies and variable endocrine and T-cell dysfunction - MIM#618223
Mendeliome v0.10548 TBX2 Zornitza Stark Publications for gene: TBX2 were set to
Mendeliome v0.10547 TBX2 Zornitza Stark Mode of inheritance for gene: TBX2 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.10546 TBX2 Zornitza Stark Classified gene: TBX2 as Amber List (moderate evidence)
Mendeliome v0.10546 TBX2 Zornitza Stark Gene: tbx2 has been classified as Amber List (Moderate Evidence).
Mendeliome v0.10545 SLC27A4 Zornitza Stark Marked gene: SLC27A4 as ready
Mendeliome v0.10545 SLC27A4 Zornitza Stark Gene: slc27a4 has been classified as Green List (High Evidence).
Mendeliome v0.10545 SLC27A4 Zornitza Stark Phenotypes for gene: SLC27A4 were changed from to Ichthyosis prematurity syndrome, MIM#608649
Mendeliome v0.10544 SLC27A4 Zornitza Stark Publications for gene: SLC27A4 were set to
Mendeliome v0.10543 SLC27A4 Zornitza Stark Mode of inheritance for gene: SLC27A4 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.10542 SLC25A24 Zornitza Stark reviewed gene: SLC25A24: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Fontaine progeroid syndrome, MIM# 612289; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.10542 TBX2 Krithika Murali changed review comment from: Liu et al. (2018) reported 4 affected individuals from 2 unrelated families with congenital cardiac defects (ASD, PDA, double outlet right ventricle, pulmonary stenosis), skeletal abnormalities (camptodactyly, congenital fusion thoracic spine, hemivertebrae ).Thymus aplasia/hypoplasia, cleft palate also noted. Other associated features include - facial dysmorphisms, variable developmental delay, and endocrine system disorders (e.g. autoimmune hypothyroidism, hypoparathyroidism).

PMID23727221 and PMID30223900 - TBX2 gene and TBX2 gene promoter sequencing in congenital heart disease cohorts versus controls - not enough supportive evidence for variant pathogenicity, including no segregation data. Variants prevalent in population databases also included as likely pathogenic.

PMID 20635360 - de novo dup 17q23.2 encompassing TBX2 gene in boy with cognitive impairment, multiple congenital defects and prenatal onset growth restriction. Part of BCAS3 gene (associated with autosomal recessive Hengel-Maroofian-Schols syndrome) also included in duplication. No supportive evidence of TBX2 gene function impairment in the patient provided.; to: Liu et al. (2018) reported 4 affected individuals from 2 unrelated families with congenital cardiac defects (ASD, PDA, double outlet right ventricle, pulmonary stenosis), skeletal abnormalities (camptodactyly, congenital fusion thoracic spine, hemivertebrae ).Thymus aplasia/hypoplasia, cleft palate also noted. Other associated features include - facial dysmorphisms, variable developmental delay, and endocrine system disorders (e.g. autoimmune hypothyroidism, hypoparathyroidism).

PMID23727221 and PMID30223900 - TBX2 gene and TBX2 gene promoter sequencing in congenital heart disease cohorts versus controls - not enough supportive evidence for variant pathogenicity, including no segregation data. Variants prevalent in population databases also included as potentially disease causing.

PMID 20635360 - de novo dup 17q23.2 encompassing TBX2 gene in boy with cognitive impairment, multiple congenital defects and prenatal onset growth restriction. Part of BCAS3 gene (associated with autosomal recessive Hengel-Maroofian-Schols syndrome) also included in duplication. No supportive evidence of TBX2 gene function impairment in the patient provided.
Mendeliome v0.10542 TBX2 Krithika Murali reviewed gene: TBX2: Rating: AMBER; Mode of pathogenicity: None; Publications: 29726930, 23727221, 20635360, 30223900; Phenotypes: Vertebral anomalies and variable endocrine and T-cell dysfunction - MIM#618223; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.10542 SLC27A4 Seb Lunke reviewed gene: SLC27A4: Rating: GREEN; Mode of pathogenicity: None; Publications: 21856041, 19631310, 31168818; Phenotypes: Ichthyosis prematurity syndrome, MIM#608649; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.10542 SMAD6 Zornitza Stark Marked gene: SMAD6 as ready
Mendeliome v0.10542 SMAD6 Zornitza Stark Gene: smad6 has been classified as Green List (High Evidence).
Mendeliome v0.10542 SMAD6 Zornitza Stark Phenotypes for gene: SMAD6 were changed from to {Radioulnar synostosis, nonsyndromic} 179300; {Craniosynostosis 7, susceptibility to} 617439; Aortic valve disease 2 MIM# 614823
Mendeliome v0.10541 SMAD6 Zornitza Stark Publications for gene: SMAD6 were set to
Mendeliome v0.10540 SMAD6 Zornitza Stark Mode of inheritance for gene: SMAD6 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.10539 SMAD6 Zornitza Stark edited their review of gene: SMAD6: Changed phenotypes: {Radioulnar synostosis, nonsyndromic} 179300, {Craniosynostosis 7, susceptibility to} 617439, Aortic valve disease 2 MIM# 614823
Mendeliome v0.10539 SMAD6 Zornitza Stark reviewed gene: SMAD6: Rating: GREEN; Mode of pathogenicity: None; Publications: 31138930, 32499606, 27606499, 22275001, 28659821, 30963242, 30848080, 30796334; Phenotypes: {Radioulnar synostosis, nonsyndromic} 179300, {Craniosynostosis 7, susceptibility to} 617439; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.10539 SLC26A2 Seb Lunke Marked gene: SLC26A2 as ready
Mendeliome v0.10539 SLC26A2 Seb Lunke Gene: slc26a2 has been classified as Green List (High Evidence).
Mendeliome v0.10539 SLC26A2 Seb Lunke Phenotypes for gene: SLC26A2 were changed from to Achondrogenesis 1B, MIM#600972; Atelosteogenesis, type II, MIM#256050; Diastrophic dysplasia, MIM#222600; Epiphyseal dysplasia, multiple, 4, MIM#226900
Mendeliome v0.10538 SLC26A2 Seb Lunke Publications for gene: SLC26A2 were set to
Mendeliome v0.10537 SLC26A2 Seb Lunke Mode of inheritance for gene: SLC26A2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.10536 SLC26A2 Seb Lunke reviewed gene: SLC26A2: Rating: GREEN; Mode of pathogenicity: None; Publications: 20301483, 20301689; Phenotypes: Achondrogenesis 1B, MIM#600972, Atelosteogenesis, type II, MIM#256050, Diastrophic dysplasia, MIM#222600, Epiphyseal dysplasia, multiple, 4, MIM#226900; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.10536 TUBB4A Zornitza Stark Marked gene: TUBB4A as ready
Mendeliome v0.10536 TUBB4A Zornitza Stark Gene: tubb4a has been classified as Green List (High Evidence).
Mendeliome v0.10536 TUBB4A Zornitza Stark Phenotypes for gene: TUBB4A were changed from to Dystonia 4, torsion, autosomal dominant, OMIM #128101; Leukodystrophy, hypomyelinating, 6, OMIM # 612438
Mendeliome v0.10535 TUBB4A Zornitza Stark Publications for gene: TUBB4A were set to
Mendeliome v0.10534 TUBB4A Zornitza Stark Mode of inheritance for gene: TUBB4A was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.10533 TUBB4A Zornitza Stark reviewed gene: TUBB4A: Rating: GREEN; Mode of pathogenicity: None; Publications: 24850488, 23582646, 23424103, 23595291, 33084096, 32943487; Phenotypes: Dystonia 4, torsion, autosomal dominant, OMIM #128101, Leukodystrophy, hypomyelinating, 6, OMIM # 612438; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.10533 TWIST1 Zornitza Stark Marked gene: TWIST1 as ready
Mendeliome v0.10533 TWIST1 Zornitza Stark Gene: twist1 has been classified as Green List (High Evidence).
Mendeliome v0.10533 TWIST1 Zornitza Stark Phenotypes for gene: TWIST1 were changed from to Craniosynostosis 1, MIM# 123100; Saethre-Chotzen syndrome with or without eyelid anomalies, MIM# 101400; Sweeny-Cox syndrome, MIM# 617746; Robinow-Sorauf syndrome, MIM# 180750
Mendeliome v0.10532 TWIST1 Zornitza Stark Publications for gene: TWIST1 were set to
Mendeliome v0.10531 TWIST1 Zornitza Stark Mode of inheritance for gene: TWIST1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.10530 TWIST1 Zornitza Stark Tag SV/CNV tag was added to gene: TWIST1.
Tag 5'UTR tag was added to gene: TWIST1.
Mendeliome v0.10530 TWIST1 Zornitza Stark reviewed gene: TWIST1: Rating: GREEN; Mode of pathogenicity: None; Publications: 17343269, 9585583, 12116251, 31299755, 30040876; Phenotypes: Craniosynostosis 1, MIM# 123100, Saethre-Chotzen syndrome with or without eyelid anomalies, MIM# 101400, Sweeny-Cox syndrome, MIM# 617746, Robinow-Sorauf syndrome, MIM# 180750; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.10530 SLC25A24 Seb Lunke Marked gene: SLC25A24 as ready
Mendeliome v0.10530 SLC25A24 Seb Lunke Gene: slc25a24 has been classified as Green List (High Evidence).
Mendeliome v0.10530 SLC25A24 Seb Lunke Phenotypes for gene: SLC25A24 were changed from to Fontaine progeroid syndrome, MIM#612289
Mendeliome v0.10529 SLC25A24 Seb Lunke Publications for gene: SLC25A24 were set to
Mendeliome v0.10528 SLC25A24 Seb Lunke Mode of inheritance for gene: SLC25A24 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.10527 SLC25A24 Seb Lunke reviewed gene: SLC25A24: Rating: ; Mode of pathogenicity: None; Publications: 29100093, 29100094, 29100094, 31775791, 32732226, 32860237; Phenotypes: Fontaine progeroid syndrome, MIM#612289; Mode of inheritance: None; Current diagnostic: yes
Mendeliome v0.10527 ARHGEF10 Zornitza Stark Phenotypes for gene: ARHGEF10 were changed from to Slowed nerve conduction velocity, MIM# 608236
Mendeliome v0.10526 ARHGEF10 Zornitza Stark Publications for gene: ARHGEF10 were set to
Mendeliome v0.10525 ARHGEF10 Zornitza Stark Mode of pathogenicity for gene: ARHGEF10 was changed from to Other
Mendeliome v0.10524 ARHGEF10 Zornitza Stark Mode of inheritance for gene: ARHGEF10 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.10523 ARHGEF10 Zornitza Stark edited their review of gene: ARHGEF10: Changed rating: AMBER
Mendeliome v0.10523 MBNL1 Zornitza Stark Marked gene: MBNL1 as ready
Mendeliome v0.10523 MBNL1 Zornitza Stark Gene: mbnl1 has been classified as Red List (Low Evidence).
Mendeliome v0.10523 MBNL1 Zornitza Stark Classified gene: MBNL1 as Red List (low evidence)
Mendeliome v0.10523 MBNL1 Zornitza Stark Gene: mbnl1 has been classified as Red List (Low Evidence).
Mendeliome v0.10522 MBNL1 Zornitza Stark reviewed gene: MBNL1: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Mendeliome v0.10522 PDK3 Zornitza Stark Marked gene: PDK3 as ready
Mendeliome v0.10522 PDK3 Zornitza Stark Gene: pdk3 has been classified as Green List (High Evidence).
Mendeliome v0.10522 PDK3 Zornitza Stark Phenotypes for gene: PDK3 were changed from to Charcot-Marie-Tooth disease, X-linked dominant, 6 MIM#300905; HMSN
Mendeliome v0.10521 PDK3 Zornitza Stark Publications for gene: PDK3 were set to
Mendeliome v0.10520 PDK3 Zornitza Stark Mode of inheritance for gene: PDK3 was changed from Unknown to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Mendeliome v0.10519 PDK3 Arina Puzriakova reviewed gene: PDK3: Rating: ; Mode of pathogenicity: None; Publications: 34387338; Phenotypes: Charcot-Marie-Tooth disease, X-linked dominant, 6, OMIM:300905; Mode of inheritance: None
Mendeliome v0.10519 PRDM9 Zornitza Stark Marked gene: PRDM9 as ready
Mendeliome v0.10519 PRDM9 Zornitza Stark Gene: prdm9 has been classified as Green List (High Evidence).
Mendeliome v0.10519 PRDM9 Zornitza Stark Classified gene: PRDM9 as Green List (high evidence)
Mendeliome v0.10519 PRDM9 Zornitza Stark Gene: prdm9 has been classified as Green List (High Evidence).
Mendeliome v0.10518 PRDM9 Zornitza Stark gene: PRDM9 was added
gene: PRDM9 was added to Mendeliome. Sources: Literature
Mode of inheritance for gene: PRDM9 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: PRDM9 were set to 34257419
Phenotypes for gene: PRDM9 were set to Inherited primary ovarian failure MONDO:0019852
Review for gene: PRDM9 was set to GREEN
Added comment: The primordial follicle pool is determined by the meiosis process, which is initiated by programmed DNA double strand breaks (DSB) and homologous recombination. PRDM9 is a meiosis-specific histone H3 methyltransferase and a major determinant of meiotic recombination hotspots in mammals. 3 pathogenic heterozygous variants in PRDM9 identified in 4 patients with POI. Functional studies showed the variants in PRDM9 impaired its methyltransferase activity. Prdm9+/- mice were subfertile, and showed increased percentage of germ cells at abnormal pachytene stage with decreased number of PRDM9-dependent DSBs and insufficient recombination.
Sources: Literature
Mendeliome v0.10517 DZIP1L Zornitza Stark Marked gene: DZIP1L as ready
Mendeliome v0.10517 DZIP1L Zornitza Stark Gene: dzip1l has been classified as Green List (High Evidence).
Mendeliome v0.10517 DZIP1L Zornitza Stark Phenotypes for gene: DZIP1L were changed from to Polycystic kidney disease 5, MIM#617610
Mendeliome v0.10516 DZIP1L Zornitza Stark Publications for gene: DZIP1L were set to
Mendeliome v0.10515 DZIP1L Zornitza Stark Mode of inheritance for gene: DZIP1L was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.10514 DZIP1L Zornitza Stark reviewed gene: DZIP1L: Rating: GREEN; Mode of pathogenicity: None; Publications: 28530676; Phenotypes: Polycystic kidney disease 5, MIM#617610; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.10514 PPA2 Zornitza Stark Marked gene: PPA2 as ready
Mendeliome v0.10514 PPA2 Zornitza Stark Gene: ppa2 has been classified as Green List (High Evidence).
Mendeliome v0.10514 PPA2 Zornitza Stark Phenotypes for gene: PPA2 were changed from to Sudden cardiac failure, alcohol-induced, 617223; Sudden cardiac failure, infantile, 617222
Mendeliome v0.10513 PPA2 Zornitza Stark Publications for gene: PPA2 were set to
Mendeliome v0.10512 PPA2 Zornitza Stark Mode of inheritance for gene: PPA2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.10511 PPA2 Zornitza Stark reviewed gene: PPA2: Rating: GREEN; Mode of pathogenicity: None; Publications: 27523598, 34400813; Phenotypes: Sudden cardiac failure, alcohol-induced, 617223, Sudden cardiac failure, infantile, 617222; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.10511 NAA20 Zornitza Stark Marked gene: NAA20 as ready
Mendeliome v0.10511 NAA20 Zornitza Stark Gene: naa20 has been classified as Green List (High Evidence).
Mendeliome v0.10511 NAA20 Zornitza Stark Classified gene: NAA20 as Green List (high evidence)
Mendeliome v0.10511 NAA20 Zornitza Stark Gene: naa20 has been classified as Green List (High Evidence).
Mendeliome v0.10510 NAA20 Zornitza Stark gene: NAA20 was added
gene: NAA20 was added to Mendeliome. Sources: Literature
Mode of inheritance for gene: NAA20 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: NAA20 were set to 34230638
Phenotypes for gene: NAA20 were set to Intellectual disability; Microcephaly; Neurodevelopmental disorder MONDO:0700092
Review for gene: NAA20 was set to GREEN
Added comment: 2 consanguineous families with 5 affected individuals with developmental delay, intellectual disability, and microcephaly (-2-4SD). Exome and genome sequencing identified 2 different homozygous variants in NAA20 gene (p.Met54Val and p.Ala80Val), and segregated with affected individuals. N-terminal acetyltransferases modify proteins by adding an acetyl moiety to the first amino acid and are vital for protein and cell function. The NatB complex acetylates 20% of the human proteome and is composed of the catalytic subunit NAA20 and the auxiliary subunit NAA25. Both NAA20-M54V and NAA20-A80V were impaired in their capacity to form a NatB complex with NAA25, and in vitro acetylation assays revealed reduced catalytic activities toward different NatB substrates.
Sources: Literature
Mendeliome v0.10509 PLA2G7 Zornitza Stark Marked gene: PLA2G7 as ready
Mendeliome v0.10509 PLA2G7 Zornitza Stark Gene: pla2g7 has been classified as Red List (Low Evidence).
Mendeliome v0.10509 PLA2G7 Zornitza Stark Phenotypes for gene: PLA2G7 were changed from to Platelet-activating factor acetylhydrolase deficiency MIM#614278
Mendeliome v0.10508 PLA2G7 Zornitza Stark Publications for gene: PLA2G7 were set to
Mendeliome v0.10507 PLA2G7 Zornitza Stark Mode of inheritance for gene: PLA2G7 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.10506 PLA2G7 Zornitza Stark Classified gene: PLA2G7 as Red List (low evidence)
Mendeliome v0.10506 PLA2G7 Zornitza Stark Gene: pla2g7 has been classified as Red List (Low Evidence).
Mendeliome v0.10505 RAB23 Zornitza Stark Marked gene: RAB23 as ready
Mendeliome v0.10505 RAB23 Zornitza Stark Gene: rab23 has been classified as Green List (High Evidence).
Mendeliome v0.10505 RAB23 Zornitza Stark Phenotypes for gene: RAB23 were changed from to Carpenter syndrome (MIM#201000)
Mendeliome v0.10504 RAB23 Zornitza Stark Publications for gene: RAB23 were set to
Mendeliome v0.10503 RAB23 Zornitza Stark Mode of inheritance for gene: RAB23 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.10502 DSG1 Zornitza Stark Marked gene: DSG1 as ready
Mendeliome v0.10502 DSG1 Zornitza Stark Gene: dsg1 has been classified as Green List (High Evidence).
Mendeliome v0.10502 DSG1 Zornitza Stark Phenotypes for gene: DSG1 were changed from to Erythroderma, congenital, with palmoplantar keratoderma, hypotrichosis, and hyper IgE, AR (MIM#615508); Keratosis palmoplantaris striata I, AD (MIM# 148700)
Mendeliome v0.10501 DSG1 Zornitza Stark Publications for gene: DSG1 were set to
Mendeliome v0.10500 DSG1 Zornitza Stark Mode of inheritance for gene: DSG1 was changed from Unknown to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Mendeliome v0.10499 DPF2 Zornitza Stark Marked gene: DPF2 as ready
Mendeliome v0.10499 DPF2 Zornitza Stark Gene: dpf2 has been classified as Green List (High Evidence).
Mendeliome v0.10499 DPF2 Zornitza Stark Phenotypes for gene: DPF2 were changed from to Coffin-Siris syndrome 7, MIM#618027
Mendeliome v0.10498 DPF2 Zornitza Stark Publications for gene: DPF2 were set to
Mendeliome v0.10497 DPF2 Zornitza Stark Mode of inheritance for gene: DPF2 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.10496 DNAJC19 Zornitza Stark Marked gene: DNAJC19 as ready
Mendeliome v0.10496 DNAJC19 Zornitza Stark Gene: dnajc19 has been classified as Green List (High Evidence).
Mendeliome v0.10496 DNAJC19 Zornitza Stark Phenotypes for gene: DNAJC19 were changed from to 3-methylglutaconic aciduria, type V MIM#610198
Mendeliome v0.10495 DNAJC19 Zornitza Stark Publications for gene: DNAJC19 were set to
Mendeliome v0.10494 DNAJC19 Zornitza Stark Mode of inheritance for gene: DNAJC19 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.10493 PLA2G7 Paul De Fazio reviewed gene: PLA2G7: Rating: RED; Mode of pathogenicity: None; Publications: 3198761, 10733466, 25587968, 28406212; Phenotypes: Platelet-activating factor acetylhydrolase deficiency MIM#614278; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Mendeliome v0.10493 RAB23 Naomi Baker reviewed gene: RAB23: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID:17503333, 21412941, 23599695, 25168863; Phenotypes: Carpenter syndrome (MIM#201000); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.10493 DSG1 Belinda Chong reviewed gene: DSG1: Rating: GREEN; Mode of pathogenicity: None; Publications: 19558595, 29315490, 31192455, 23974871, 29229434, 33666035; Phenotypes: Erythroderma, congenital, with palmoplantar keratoderma, hypotrichosis, and hyper IgE, AR (MIM#615508), Keratosis palmoplantaris striata I, AD (MIM# 148700); Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal; Current diagnostic: yes
Mendeliome v0.10493 KCNC1 Zornitza Stark Marked gene: KCNC1 as ready
Mendeliome v0.10493 KCNC1 Zornitza Stark Gene: kcnc1 has been classified as Green List (High Evidence).
Mendeliome v0.10493 KCNC1 Zornitza Stark Phenotypes for gene: KCNC1 were changed from to Epilepsy, progressive myoclonic 7 (MIM#616187); Intellectual disability; Movement disorders
Mendeliome v0.10492 KCNC1 Zornitza Stark Publications for gene: KCNC1 were set to 25401298
Mendeliome v0.10491 KCNC1 Zornitza Stark changed review comment from: Additional individuals reported with different variants, causing a broad range of neurological phenotypes including ID and movement disorders.; to: Additional individuals reported with different variants, causing a broad range of neurological phenotypes including ID and movement disorders.

Likely reflects different mechanisms (LoF vs GoF).
Mendeliome v0.10491 KCNC1 Zornitza Stark reviewed gene: KCNC1: Rating: GREEN; Mode of pathogenicity: None; Publications: 28145425, 31353862; Phenotypes: Intellectual disability, Movement disorders; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.10491 KCNC1 Zornitza Stark Publications for gene: KCNC1 were set to
Mendeliome v0.10490 KCNC1 Zornitza Stark Mode of inheritance for gene: KCNC1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.10489 JAK3 Zornitza Stark Marked gene: JAK3 as ready
Mendeliome v0.10489 JAK3 Zornitza Stark Gene: jak3 has been classified as Green List (High Evidence).
Mendeliome v0.10489 JAK3 Zornitza Stark Phenotypes for gene: JAK3 were changed from to SCID, autosomal recessive, T-negative/B-positive type MIM# 600802
Mendeliome v0.10488 JAK3 Zornitza Stark Publications for gene: JAK3 were set to
Mendeliome v0.10487 JAK3 Zornitza Stark Mode of inheritance for gene: JAK3 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.10486 GBE1 Zornitza Stark Marked gene: GBE1 as ready
Mendeliome v0.10486 GBE1 Zornitza Stark Gene: gbe1 has been classified as Green List (High Evidence).
Mendeliome v0.10486 GBE1 Zornitza Stark Phenotypes for gene: GBE1 were changed from to Glycogen storage disease IV, MIM# 232500; Polyglucosan body disease, adult form MIM#263570
Mendeliome v0.10485 GBE1 Zornitza Stark Publications for gene: GBE1 were set to
Mendeliome v0.10484 GBE1 Zornitza Stark Mode of inheritance for gene: GBE1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.10483 GBE1 Zornitza Stark reviewed gene: GBE1: Rating: GREEN; Mode of pathogenicity: None; Publications: 8613547; Phenotypes: Glycogen storage disease IV, MIM# 232500, Polyglucosan body disease, adult form MIM#263570; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.10483 KCNC1 Daniel Flanagan reviewed gene: KCNC1: Rating: GREEN; Mode of pathogenicity: None; Publications: 25401298; Phenotypes: Epilepsy, progressive myoclonic 7 (MIM#616187); Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.10483 DPF2 Belinda Chong reviewed gene: DPF2: Rating: GREEN; Mode of pathogenicity: None; Publications: 29429572, 31706665; Phenotypes: Coffin-Siris syndrome 7 MIM#618027; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes
Mendeliome v0.10483 FREM1 Zornitza Stark Marked gene: FREM1 as ready
Mendeliome v0.10483 FREM1 Zornitza Stark Gene: frem1 has been classified as Green List (High Evidence).
Mendeliome v0.10483 FREM1 Zornitza Stark Phenotypes for gene: FREM1 were changed from to Manitoba oculotrichoanal syndrome 248450; Bifid nose with or without anorectal and renal anomalies, MIM# 608980; Trigonocephaly 2, MIM# 614485
Mendeliome v0.10482 FREM1 Zornitza Stark Publications for gene: FREM1 were set to
Mendeliome v0.10481 FREM1 Zornitza Stark Mode of inheritance for gene: FREM1 was changed from Unknown to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Mendeliome v0.10480 FREM1 Zornitza Stark reviewed gene: FREM1: Rating: GREEN; Mode of pathogenicity: None; Publications: 32016392, 21931569, 21507892, 19732862, 20301721, 28111185; Phenotypes: Manitoba oculotrichoanal syndrome 248450, Bifid nose with or without anorectal and renal anomalies, MIM# 608980, Trigonocephaly 2, MIM# 614485; Mode of inheritance: BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Mendeliome v0.10480 FRAS1 Zornitza Stark Marked gene: FRAS1 as ready
Mendeliome v0.10480 FRAS1 Zornitza Stark Gene: fras1 has been classified as Green List (High Evidence).
Mendeliome v0.10480 FRAS1 Zornitza Stark Phenotypes for gene: FRAS1 were changed from to Fraser syndrome 1, MIM#219000
Mendeliome v0.10479 FRAS1 Zornitza Stark Publications for gene: FRAS1 were set to
Mendeliome v0.10478 FRAS1 Zornitza Stark Mode of inheritance for gene: FRAS1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.10477 FRAS1 Zornitza Stark reviewed gene: FRAS1: Rating: GREEN; Mode of pathogenicity: None; Publications: 12766769, 18671281; Phenotypes: Fraser syndrome 1, MIM#219000; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.10477 DNAJC19 Belinda Chong reviewed gene: DNAJC19: Rating: GREEN; Mode of pathogenicity: None; Publications: 16055927, 17244376, 22797137; Phenotypes: 3-methylglutaconic aciduria, type V MIM#610198; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Mendeliome v0.10477 SGPL1 Seb Lunke Marked gene: SGPL1 as ready
Mendeliome v0.10477 SGPL1 Seb Lunke Gene: sgpl1 has been classified as Green List (High Evidence).
Mendeliome v0.10477 SGPL1 Seb Lunke Publications for gene: SGPL1 were set to
Mendeliome v0.10476 SGPL1 Seb Lunke Mode of inheritance for gene: SGPL1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.10475 SGPL1 Seb Lunke reviewed gene: SGPL1: Rating: GREEN; Mode of pathogenicity: None; Publications: 33074640; Phenotypes: Sphingosine Phosphate Lyase Insufficiency Syndrome, Nephrotic syndrome, type 14, MIM#617575; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.10475 FOXP3 Zornitza Stark Marked gene: FOXP3 as ready
Mendeliome v0.10475 FOXP3 Zornitza Stark Gene: foxp3 has been classified as Green List (High Evidence).
Mendeliome v0.10475 FOXP3 Zornitza Stark Phenotypes for gene: FOXP3 were changed from to Immunodysregulation, polyendocrinopathy, and enteropathy, X-linked, 304790
Mendeliome v0.10474 FOXP3 Zornitza Stark Publications for gene: FOXP3 were set to
Mendeliome v0.10473 FOXP3 Zornitza Stark Mode of inheritance for gene: FOXP3 was changed from Unknown to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Mendeliome v0.10472 FOXP3 Zornitza Stark reviewed gene: FOXP3: Rating: GREEN; Mode of pathogenicity: None; Publications: 11295725, 11137993, 33668198, 33614561, 33330291, 32234571; Phenotypes: Immunodysregulation, polyendocrinopathy, and enteropathy, X-linked, 304790; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Mendeliome v0.10472 MMP3 Zornitza Stark Marked gene: MMP3 as ready
Mendeliome v0.10472 MMP3 Zornitza Stark Gene: mmp3 has been classified as Red List (Low Evidence).
Mendeliome v0.10472 MMP3 Zornitza Stark Phenotypes for gene: MMP3 were changed from to {Coronary heart disease, susceptibility to, 6} 614466
Mendeliome v0.10471 MMP3 Zornitza Stark Publications for gene: MMP3 were set to
Mendeliome v0.10470 MMP3 Zornitza Stark Classified gene: MMP3 as Red List (low evidence)
Mendeliome v0.10470 MMP3 Zornitza Stark Gene: mmp3 has been classified as Red List (Low Evidence).
Mendeliome v0.10469 MMP3 Paul De Fazio reviewed gene: MMP3: Rating: RED; Mode of pathogenicity: None; Publications: 12750310, 10351963; Phenotypes: {Coronary heart disease, susceptibility to, 6} 614466; Mode of inheritance: Unknown; Current diagnostic: yes
Mendeliome v0.10469 LRAT Zornitza Stark Marked gene: LRAT as ready
Mendeliome v0.10469 LRAT Zornitza Stark Gene: lrat has been classified as Green List (High Evidence).
Mendeliome v0.10469 LRAT Zornitza Stark Phenotypes for gene: LRAT were changed from to Leber congenital amaurosis 14 MIM#613341; Retinal dystrophy, early-onset severe MIM#613341; Retinitis pigmentosa, juvenile MIM#613341
Mendeliome v0.10468 LRAT Zornitza Stark Publications for gene: LRAT were set to
Mendeliome v0.10467 LRAT Zornitza Stark Mode of inheritance for gene: LRAT was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.10466 LRAT Zornitza Stark reviewed gene: LRAT: Rating: GREEN; Mode of pathogenicity: None; Publications: 11381255, 18055821, 22570351, 17011878, 29973277, 24625443, 22559933, 31448181; Phenotypes: Leber congenital amaurosis 14 MIM#613341, Retinal dystrophy, early-onset severe MIM#613341, Retinitis pigmentosa, juvenile MIM#613341; Mode of inheritance: None
Mendeliome v0.10466 GRM1 Zornitza Stark Marked gene: GRM1 as ready
Mendeliome v0.10466 GRM1 Zornitza Stark Gene: grm1 has been classified as Green List (High Evidence).
Mendeliome v0.10466 GRM1 Zornitza Stark Phenotypes for gene: GRM1 were changed from to Spinocerebellar ataxia 44 MIM#617691; Spinocerebellar ataxia, autosomal recessive 13 MIM#614831
Mendeliome v0.10465 GRM1 Zornitza Stark Publications for gene: GRM1 were set to
Mendeliome v0.10464 GRM1 Zornitza Stark Mode of inheritance for gene: GRM1 was changed from Unknown to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Mendeliome v0.10463 GRHL2 Zornitza Stark Publications for gene: GRHL2 were set to 25152456; 29499165
Mendeliome v0.10462 SLC17A5 Zornitza Stark Publications for gene: SLC17A5 were set to 10581036; 10947946; 33862140
Mendeliome v0.10461 GPX4 Zornitza Stark Marked gene: GPX4 as ready
Mendeliome v0.10461 GPX4 Zornitza Stark Gene: gpx4 has been classified as Green List (High Evidence).
Mendeliome v0.10461 GPX4 Zornitza Stark Phenotypes for gene: GPX4 were changed from to Spondylometaphyseal dysplasia, Sedaghatian type MIM#250220
Mendeliome v0.10460 GPX4 Zornitza Stark Publications for gene: GPX4 were set to
Mendeliome v0.10459 GPX4 Zornitza Stark Mode of inheritance for gene: GPX4 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.10458 SLC12A6 Zornitza Stark Phenotypes for gene: SLC12A6 were changed from Andermann syndrome; Hereditary Motor and Sensory Neuropathy with Agenesis of the Corpus Callosum; Intermediate CMT to Andermann syndrome; Agenesis of the corpus callosum with peripheral neuropathy, MIM#21800; Intermediate CMT
Mendeliome v0.10457 SLC12A6 Zornitza Stark edited their review of gene: SLC12A6: Changed phenotypes: Andermann syndrome, Agenesis of the corpus callosum with peripheral neuropathy, MIM#21800, Intermediate CMT
Mendeliome v0.10457 GPKOW Zornitza Stark Marked gene: GPKOW as ready
Mendeliome v0.10457 GPKOW Zornitza Stark Gene: gpkow has been classified as Red List (Low Evidence).
Mendeliome v0.10457 GPKOW Zornitza Stark Classified gene: GPKOW as Red List (low evidence)
Mendeliome v0.10457 GPKOW Zornitza Stark Gene: gpkow has been classified as Red List (Low Evidence).
Mendeliome v0.10456 GNA11 Zornitza Stark Marked gene: GNA11 as ready
Mendeliome v0.10456 GNA11 Zornitza Stark Gene: gna11 has been classified as Green List (High Evidence).
Mendeliome v0.10456 GNA11 Zornitza Stark Phenotypes for gene: GNA11 were changed from to Hypocalcemia, autosomal dominant 2 MIM#615361; Hypocalciuric hypercalcemia, type II MIM#145981
Mendeliome v0.10455 GNA11 Zornitza Stark Publications for gene: GNA11 were set to
Mendeliome v0.10454 GNA11 Zornitza Stark Mode of pathogenicity for gene: GNA11 was changed from to Other
Mendeliome v0.10453 GNA11 Zornitza Stark Mode of inheritance for gene: GNA11 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.10452 FOXC2 Zornitza Stark Marked gene: FOXC2 as ready
Mendeliome v0.10452 FOXC2 Zornitza Stark Gene: foxc2 has been classified as Green List (High Evidence).
Mendeliome v0.10452 FOXC2 Zornitza Stark Phenotypes for gene: FOXC2 were changed from to Lymphoedema-distichiasis syndrome, MIM# 153400
Mendeliome v0.10451 FOXC2 Zornitza Stark Publications for gene: FOXC2 were set to
Mendeliome v0.10450 FOXC2 Zornitza Stark Mode of inheritance for gene: FOXC2 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.10449 FOXC2 Zornitza Stark reviewed gene: FOXC2: Rating: GREEN; Mode of pathogenicity: None; Publications: 11078474, 11694548, 11371511; Phenotypes: Lymphoedema-distichiasis syndrome, MIM# 153400; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.10449 GRM1 Ain Roesley reviewed gene: GRM1: Rating: GREEN; Mode of pathogenicity: None; Publications: 22901947, 26308914, 31319223; Phenotypes: Spinocerebellar ataxia 44 MIM#617691, Spinocerebellar ataxia, autosomal recessive 13 MIM#614831; Mode of inheritance: BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal; Current diagnostic: yes
Mendeliome v0.10449 GRHL2 Ain Roesley reviewed gene: GRHL2: Rating: GREEN; Mode of pathogenicity: None; Publications: 27612988, 19415813; Phenotypes: Ectodermal dysplasia/short stature syndrome MIM#616029; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Mendeliome v0.10449 SLC17A5 Seb Lunke Publications for gene: SLC17A5 were set to 10581036; 10947946
Mendeliome v0.10448 SLC17A5 Seb Lunke reviewed gene: SLC17A5: Rating: GREEN; Mode of pathogenicity: None; Publications: 33862140; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.10448 GPX4 Ain Roesley reviewed gene: GPX4: Rating: GREEN; Mode of pathogenicity: None; Publications: 24706940, 32827718; Phenotypes: Spondylometaphyseal dysplasia, Sedaghatian type MIM#250220; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Mendeliome v0.10448 GPKOW Ain Roesley gene: GPKOW was added
gene: GPKOW was added to Mendeliome. Sources: Literature
Mode of inheritance for gene: GPKOW was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Publications for gene: GPKOW were set to 28612833
Phenotypes for gene: GPKOW were set to male-lethal microcephaly with intrauterine growth restriction
Penetrance for gene: GPKOW were set to unknown
Review for gene: GPKOW was set to RED
gene: GPKOW was marked as current diagnostic
Added comment: - multi-generational family with 5 deceased males (only 1 genotyped)
- X-exome sequencing identified NM_015698.4:c.331+5G>A, which segregated through the obligate carriers
- RNA from female carriers confirmed splicing defects, which leads to NMD

no additional reports since
Sources: Literature
Mendeliome v0.10448 GNA11 Ain Roesley reviewed gene: GNA11: Rating: GREEN; Mode of pathogenicity: Other; Publications: 23802536, 23802516, 24823460, 26818911, 27334330; Phenotypes: Hypocalcemia, autosomal dominant 2 MIM#615361, Hypocalciuric hypercalcemia, type II MIM#145981; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes
Mendeliome v0.10448 HOXC13 Zornitza Stark Marked gene: HOXC13 as ready
Mendeliome v0.10448 HOXC13 Zornitza Stark Gene: hoxc13 has been classified as Green List (High Evidence).
Mendeliome v0.10448 HOXC13 Zornitza Stark Phenotypes for gene: HOXC13 were changed from to Ectodermal dysplasia 9, hair/nail type MIM#614931
Mendeliome v0.10447 HOXC13 Zornitza Stark Publications for gene: HOXC13 were set to
Mendeliome v0.10446 HOXC13 Zornitza Stark Mode of inheritance for gene: HOXC13 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.10445 FZD6 Zornitza Stark Marked gene: FZD6 as ready
Mendeliome v0.10445 FZD6 Zornitza Stark Gene: fzd6 has been classified as Green List (High Evidence).
Mendeliome v0.10445 FZD6 Zornitza Stark Phenotypes for gene: FZD6 were changed from to Nail disorder, nonsyndromic congenital, 1, MIM# 161050
Mendeliome v0.10444 FZD6 Zornitza Stark Publications for gene: FZD6 were set to
Mendeliome v0.10443 FZD6 Zornitza Stark Mode of inheritance for gene: FZD6 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.10442 FZD6 Zornitza Stark reviewed gene: FZD6: Rating: GREEN; Mode of pathogenicity: None; Publications: 21665003, 23374899; Phenotypes: Nail disorder, nonsyndromic congenital, 1, MIM# 161050; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.10442 SKI Zornitza Stark reviewed gene: SKI: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Shprintzen-Goldberg syndrome, MIM#182212; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.10442 SIX5 Zornitza Stark Tag disputed tag was added to gene: SIX5.
Mendeliome v0.10442 SIX5 Zornitza Stark Publications for gene: SIX5 were set to 17357085; 33624842; 20301554; 24730701; 22447252
Mendeliome v0.10441 SIX5 Zornitza Stark Classified gene: SIX5 as Amber List (moderate evidence)
Mendeliome v0.10441 SIX5 Zornitza Stark Gene: six5 has been classified as Amber List (Moderate Evidence).
Mendeliome v0.10440 SIX5 Zornitza Stark changed review comment from: Multiple families reported.; to: Multiple families reported. However, association between SIX5 variants and BOR is DISPUTED by ClinGen: Association has been reported in at least 6 probands in 2 publications (17357085, 24429398), however the reported variants are high in frequency in population databases, have no evidence of pathogenicity, and/or an alternate cause of disease has later been reported (21280147). This gene-disease association is supported by protein interaction and biochemical function studies (14704431, 17357085, 11950062). While EYA1 and SIX1 gene inactivation in mice leads to ear and kidney abnormalities, two independent SIX5 mouse models have cataracts and no ear or kidney abnormalities (10802667, 10802668). In summary, there is convincing evidence disputing the association between SIX5 and autosomal dominant branchio-oto-renal syndrome.
Mendeliome v0.10440 SIX5 Zornitza Stark edited their review of gene: SIX5: Changed rating: AMBER; Changed publications: 17357085, 33624842, 20301554, 24730701, 22447252, 21280147, 14704431, 11950062, 10802667, 10802668
Mendeliome v0.10440 SIX5 Zornitza Stark Marked gene: SIX5 as ready
Mendeliome v0.10440 SIX5 Zornitza Stark Gene: six5 has been classified as Green List (High Evidence).
Mendeliome v0.10440 SIX5 Zornitza Stark Phenotypes for gene: SIX5 were changed from Branchiootorenal syndrome 2, MIM# 610896 to Branchiootorenal syndrome 2, MIM# 610896
Mendeliome v0.10439 SIX5 Zornitza Stark Phenotypes for gene: SIX5 were changed from to Branchiootorenal syndrome 2, MIM# 610896
Mendeliome v0.10438 SIX5 Zornitza Stark Publications for gene: SIX5 were set to
Mendeliome v0.10437 SIX5 Zornitza Stark Mode of inheritance for gene: SIX5 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.10436 SIX5 Zornitza Stark reviewed gene: SIX5: Rating: GREEN; Mode of pathogenicity: None; Publications: 17357085, 33624842, 20301554, 24730701, 22447252; Phenotypes: Branchiootorenal syndrome 2, MIM# 610896; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.10436 SKI Seb Lunke Marked gene: SKI as ready
Mendeliome v0.10436 SKI Seb Lunke Gene: ski has been classified as Green List (High Evidence).
Mendeliome v0.10436 SKI Seb Lunke Phenotypes for gene: SKI were changed from to Shprintzen-Goldberg syndrome, MIM#182212
Mendeliome v0.10435 SKI Seb Lunke Publications for gene: SKI were set to
Mendeliome v0.10434 SKI Seb Lunke Mode of inheritance for gene: SKI was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.10433 SKI Seb Lunke changed review comment from: Well established gene disease association with craniosynostosis, skeletal, and cardiovascular anomalies, high-arched palate, micrognathia. Inguinal or umbilical hernia also described. Most common skeletal manifestations are arachnodactyly, pectus deformity, camptodactyly, scoliosis.

LoF not fully established on only missense described so far. Some functional work suggest potential GoF for TGF beta signalling, but not conclusive. Not enough evidence so far to go against LoF.; to: Well established gene disease association with craniosynostosis, skeletal, and cardiovascular anomalies, high-arched palate, micrognathia. Inguinal or umbilical hernia also described. Most common skeletal manifestations are arachnodactyly, pectus deformity, camptodactyly, scoliosis.

LoF not fully established as only missense described so far. Some functional work suggest potential GoF for TGF beta signalling, but not conclusive. Not enough evidence so far to go against LoF.
Mendeliome v0.10433 SKI Seb Lunke Deleted their comment
Mendeliome v0.10433 SKI Seb Lunke commented on gene: SKI: Well established gene disease association with craniosynostosis, skeletal, and cardiovascular anomalies, high-arched palate, micrognathia. Inguinal or umbilical hernia also described. Most common skeletal manifestations are arachnodactyly, pectus deformity, camptodactyly, scoliosis.

LoF not fully established on only missense described so far. Some functional work suggest potential GoF for TGF beta signalling, but not conclusive. Not enough evidence so far to go against LoF.
Mendeliome v0.10433 SKI Seb Lunke reviewed gene: SKI: Rating: GREEN; Mode of pathogenicity: None; Publications: 15884042, 23023332; Phenotypes: Shprintzen-Goldberg syndrome, MIM#182212; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes
Mendeliome v0.10433 KEL Zornitza Stark Marked gene: KEL as ready
Mendeliome v0.10433 KEL Zornitza Stark Gene: kel has been classified as Red List (Low Evidence).
Mendeliome v0.10433 KEL Zornitza Stark Phenotypes for gene: KEL were changed from to [Blood group, Kell] 110900
Mendeliome v0.10432 KEL Zornitza Stark Classified gene: KEL as Red List (low evidence)
Mendeliome v0.10432 KEL Zornitza Stark Gene: kel has been classified as Red List (Low Evidence).
Mendeliome v0.10431 COX15 Zornitza Stark Marked gene: COX15 as ready
Mendeliome v0.10431 COX15 Zornitza Stark Gene: cox15 has been classified as Green List (High Evidence).
Mendeliome v0.10431 COX15 Zornitza Stark Phenotypes for gene: COX15 were changed from to Mitochondrial complex IV deficiency, nuclear type 6, MIM# 615119
Mendeliome v0.10430 COX15 Zornitza Stark Publications for gene: COX15 were set to
Mendeliome v0.10429 COX15 Zornitza Stark Mode of inheritance for gene: COX15 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.10428 COX15 Zornitza Stark reviewed gene: COX15: Rating: GREEN; Mode of pathogenicity: None; Publications: 33746038, 32232962, 26959537, 21412973, 12474143, 15235026; Phenotypes: Mitochondrial complex IV deficiency, nuclear type 6, MIM# 615119; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.10428 TECRL Zornitza Stark Marked gene: TECRL as ready
Mendeliome v0.10428 TECRL Zornitza Stark Gene: tecrl has been classified as Green List (High Evidence).
Mendeliome v0.10428 TECRL Zornitza Stark Classified gene: TECRL as Green List (high evidence)
Mendeliome v0.10428 TECRL Zornitza Stark Gene: tecrl has been classified as Green List (High Evidence).
Mendeliome v0.10427 TECRL Zornitza Stark gene: TECRL was added
gene: TECRL was added to Mendeliome. Sources: Expert Review
Mode of inheritance for gene: TECRL was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: TECRL were set to 17666061; 27861123; 30790670; 33367594
Phenotypes for gene: TECRL were set to Ventricular tachycardia, catecholaminergic polymorphic, 3, MIM# 614021
Review for gene: TECRL was set to GREEN
Added comment: DEFINITIVE by ClinGen
Homozygous or cpd heterozygous pathogenic variants in TECRL have been identified in patients with CPVT in at least 3 families in the literature with functional evidence.
- 17666061 one consanguineous family with 4 affected relatives (siblings or 1stcousins)
- 27861123 consanguineous family with 8 affected relatives (siblings or 1stcousins)
- 30790670 reported in a single family with one child with features of CPVT
-A multi-centre review published in 2020 provided an update on these cases and described two additional CPVT cases (homozygous p.Tyr197Ter nonsense variant and homozygous exon 2 deletion) and a family with three children with sudden cardiac death, where one was homozygous for the c.331+1G>A splice donor variant, PMID 33367594
Sources: Expert Review
Mendeliome v0.10426 KEL Ain Roesley reviewed gene: KEL: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None; Current diagnostic: yes
Mendeliome v0.10426 CCDC115 Zornitza Stark Marked gene: CCDC115 as ready
Mendeliome v0.10426 CCDC115 Zornitza Stark Gene: ccdc115 has been classified as Green List (High Evidence).
Mendeliome v0.10426 CCDC115 Zornitza Stark Phenotypes for gene: CCDC115 were changed from to Congenital disorder of glycosylation, type IIo (MIM# 616828)
Mendeliome v0.10425 CCDC115 Zornitza Stark Publications for gene: CCDC115 were set to
Mendeliome v0.10424 CCDC115 Zornitza Stark Mode of inheritance for gene: CCDC115 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.10423 CCDC115 Zornitza Stark reviewed gene: CCDC115: Rating: GREEN; Mode of pathogenicity: None; Publications: 26833332; Phenotypes: Congenital disorder of glycosylation, type IIo (MIM# 616828); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.10423 C2orf71 Zornitza Stark Marked gene: C2orf71 as ready
Mendeliome v0.10423 C2orf71 Zornitza Stark Gene: c2orf71 has been classified as Green List (High Evidence).
Mendeliome v0.10423 C2orf71 Zornitza Stark Phenotypes for gene: C2orf71 were changed from to Retinitis pigmentosa 54, MIM# 613428
Mendeliome v0.10422 C2orf71 Zornitza Stark Publications for gene: C2orf71 were set to
Mendeliome v0.10421 C2orf71 Zornitza Stark Mode of inheritance for gene: C2orf71 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.10420 C2orf71 Zornitza Stark reviewed gene: C2orf71: Rating: GREEN; Mode of pathogenicity: None; Publications: 20398886, 20398884, 24780881, 31819343, 29946172, 28763557; Phenotypes: Retinitis pigmentosa 54, MIM# 613428; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.10420 SH3PXD2B Zornitza Stark Marked gene: SH3PXD2B as ready
Mendeliome v0.10420 SH3PXD2B Zornitza Stark Gene: sh3pxd2b has been classified as Green List (High Evidence).
Mendeliome v0.10420 SH3PXD2B Zornitza Stark Phenotypes for gene: SH3PXD2B were changed from to Frank-ter Haar syndrome, MIM# 249420
Mendeliome v0.10419 SH3PXD2B Zornitza Stark Publications for gene: SH3PXD2B were set to
Mendeliome v0.10418 SH3PXD2B Zornitza Stark Mode of inheritance for gene: SH3PXD2B was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.10417 SH3PXD2B Zornitza Stark reviewed gene: SH3PXD2B: Rating: GREEN; Mode of pathogenicity: None; Publications: 24105366, 20137777, 34538861, 33234702, 31978614; Phenotypes: Frank-ter Haar syndrome, MIM# 249420; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.10417 SETBP1 Zornitza Stark Marked gene: SETBP1 as ready
Mendeliome v0.10417 SETBP1 Zornitza Stark Gene: setbp1 has been classified as Green List (High Evidence).
Mendeliome v0.10417 SETBP1 Zornitza Stark Phenotypes for gene: SETBP1 were changed from to Schinzel-Giedion midface retraction syndrome, MIM# 269150; Intellectual disability, autosomal dominant 29, MIM# 616078
Mendeliome v0.10416 SETBP1 Zornitza Stark Publications for gene: SETBP1 were set to
Mendeliome v0.10415 SETBP1 Zornitza Stark changed review comment from: GoF variants cause Schinzel-Giedion syndrome, whereas LoF variants cause SETBP1-haploinsufficiency syndrome, over 40 individuals reviewed in PMID 34807554.; to: GoF variants cause Schinzel-Giedion syndrome, a severe multi-system disorder characterized by recognizable facial characteristics, severe-profound intellectual disability, intractable epilepsy, cortical visual impairment, deafness, and congenital anomalies such as cardiac defects, urogenital defects, and bone abnormalities. Causative pathogenic variants are clustered within a 12-base pair hot spot region in exon 4.

LoF variants cause SETBP1-haploinsufficiency syndrome, characterized by hypotonia and mild motor developmental delay; intellectual abilities ranging from normal to severe disability; speech and language disorder; behavioral problems (most commonly attention/concentration deficits and hyperactivity, impulsivity), and refractive errors and strabismus. Over 40 individuals reviewed in PMID 34807554.
Mendeliome v0.10415 SETBP1 Zornitza Stark Mode of inheritance for gene: SETBP1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.10414 SETBP1 Zornitza Stark reviewed gene: SETBP1: Rating: GREEN; Mode of pathogenicity: None; Publications: 20436468, 25217958, 34807554; Phenotypes: Schinzel-Giedion midface retraction syndrome, MIM# 269150, Mental retardation, autosomal dominant 29, MIM# 616078; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.10414 SCN4A Zornitza Stark Marked gene: SCN4A as ready
Mendeliome v0.10414 SCN4A Zornitza Stark Gene: scn4a has been classified as Green List (High Evidence).
Mendeliome v0.10414 SCN4A Zornitza Stark Phenotypes for gene: SCN4A were changed from to Hyperkalemic periodic paralysis, type 2, MIM# 170500; Hypokalemic periodic paralysis, type 2, MIM# 613345; Myasthenic syndrome, congenital, 16, MIM# 614198; Myotonia congenita, atypical, acetazolamide-responsive , MIM#608390; Paramyotonia congenita , MIM#168300
Mendeliome v0.10413 SCN4A Zornitza Stark Publications for gene: SCN4A were set to
Mendeliome v0.10412 SCN4A Zornitza Stark Mode of inheritance for gene: SCN4A was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Mendeliome v0.10411 SCN4A Zornitza Stark reviewed gene: SCN4A: Rating: GREEN; Mode of pathogenicity: None; Publications: 34671263; Phenotypes: Hyperkalemic periodic paralysis, type 2, MIM# 170500, Hypokalemic periodic paralysis, type 2, MIM# 613345, Myasthenic syndrome, congenital, 16, MIM# 614198, Myotonia congenita, atypical, acetazolamide-responsive , MIM#608390, Paramyotonia congenita , MIM#168300; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Mendeliome v0.10411 ING1 Zornitza Stark Phenotypes for gene: ING1 were changed from to Squamous cell carcinoma, head and neck, somatic, MIM# 275355
Mendeliome v0.10410 ING1 Zornitza Stark edited their review of gene: ING1: Changed phenotypes: Squamous cell carcinoma, head and neck, somatic, MIM# 275355
Mendeliome v0.10410 ING1 Zornitza Stark reviewed gene: ING1: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Mendeliome v0.10410 TRAP1 Zornitza Stark Marked gene: TRAP1 as ready
Mendeliome v0.10410 TRAP1 Zornitza Stark Gene: trap1 has been classified as Green List (High Evidence).
Mendeliome v0.10410 TRAP1 Zornitza Stark Phenotypes for gene: TRAP1 were changed from to CAKUT; VACTERL
Mendeliome v0.10409 TRAP1 Zornitza Stark Publications for gene: TRAP1 were set to
Mendeliome v0.10408 TRAP1 Zornitza Stark Mode of inheritance for gene: TRAP1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.10407 TRAP1 Zornitza Stark reviewed gene: TRAP1: Rating: GREEN; Mode of pathogenicity: None; Publications: 24152966; Phenotypes: CAKUT, VACTERL; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.10407 BRWD3 Zornitza Stark Marked gene: BRWD3 as ready
Mendeliome v0.10407 BRWD3 Zornitza Stark Gene: brwd3 has been classified as Green List (High Evidence).
Mendeliome v0.10407 BRWD3 Zornitza Stark Phenotypes for gene: BRWD3 were changed from to Intellectual developmental disorder, X-linked 93, MIM # 300659
Mendeliome v0.10406 BRWD3 Zornitza Stark Publications for gene: BRWD3 were set to
Mendeliome v0.10405 BRWD3 Zornitza Stark Mode of inheritance for gene: BRWD3 was changed from Unknown to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Mendeliome v0.10404 BRWD3 Zornitza Stark changed review comment from: More than 10 unrelated families reported, overgrowth, and in particular macrocephaly.; to: More than 10 unrelated families reported with ID, overgrowth, and in particular macrocephaly.
Mendeliome v0.10404 BRWD3 Zornitza Stark changed review comment from: More than 10 unrelated families reported, overgrowth, and in particular macrocephaly reported.; to: More than 10 unrelated families reported, overgrowth, and in particular macrocephaly.
Mendeliome v0.10404 BRWD3 Zornitza Stark reviewed gene: BRWD3: Rating: GREEN; Mode of pathogenicity: None; Publications: 17668385, 30628072, 24462886; Phenotypes: Intellectual developmental disorder, X-linked 93, MIM # 300659; Mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Mendeliome v0.10404 ING1 Seb Lunke Deleted their comment
Mendeliome v0.10404 ING1 Seb Lunke Marked gene: ING1 as ready
Mendeliome v0.10404 ING1 Seb Lunke Added comment: Comment when marking as ready: Cancer association only. Red for mendeliome.
Mendeliome v0.10404 ING1 Seb Lunke Gene: ing1 has been classified as Red List (Low Evidence).
Mendeliome v0.10404 ING1 Seb Lunke Classified gene: ING1 as Red List (low evidence)
Mendeliome v0.10404 ING1 Seb Lunke Added comment: Comment on list classification: Cancer association only
Mendeliome v0.10404 ING1 Seb Lunke Gene: ing1 has been classified as Red List (Low Evidence).
Mendeliome v0.10403 BCKDHB Zornitza Stark Marked gene: BCKDHB as ready
Mendeliome v0.10403 BCKDHB Zornitza Stark Gene: bckdhb has been classified as Green List (High Evidence).
Mendeliome v0.10403 BCKDHB Zornitza Stark Phenotypes for gene: BCKDHB were changed from to Maple syrup urine disease, type Ib, MIM# 248600
Mendeliome v0.10402 BCKDHB Zornitza Stark Publications for gene: BCKDHB were set to
Mendeliome v0.10401 BCKDHB Zornitza Stark Mode of inheritance for gene: BCKDHB was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.10400 BCKDHB Zornitza Stark reviewed gene: BCKDHB: Rating: GREEN; Mode of pathogenicity: None; Publications: 34883003, 34556729, 34288399; Phenotypes: Maple syrup urine disease, type Ib, MIM# 248600; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.10400 BCKDHA Zornitza Stark Marked gene: BCKDHA as ready
Mendeliome v0.10400 BCKDHA Zornitza Stark Gene: bckdha has been classified as Green List (High Evidence).
Mendeliome v0.10400 BCKDHA Zornitza Stark Phenotypes for gene: BCKDHA were changed from to Maple syrup urine disease, type Ia, MIM# 248600
Mendeliome v0.10399 BCKDHA Zornitza Stark Publications for gene: BCKDHA were set to
Mendeliome v0.10398 BCKDHA Zornitza Stark Mode of inheritance for gene: BCKDHA was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.10397 BCKDHA Zornitza Stark reviewed gene: BCKDHA: Rating: GREEN; Mode of pathogenicity: None; Publications: 34883003, 34556729, 34288399; Phenotypes: Maple syrup urine disease, type Ia, MIM# 248600; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.10397 FSCN2 Seb Lunke Marked gene: FSCN2 as ready
Mendeliome v0.10397 FSCN2 Seb Lunke Gene: fscn2 has been classified as Red List (Low Evidence).
Mendeliome v0.10397 FSCN2 Seb Lunke Phenotypes for gene: FSCN2 were changed from to Retinitis pigmentosa 30 MIM#607921; Macular degeneration
Mendeliome v0.10396 FSCN2 Seb Lunke Publications for gene: FSCN2 were set to
Mendeliome v0.10395 FSCN2 Seb Lunke Mode of inheritance for gene: FSCN2 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.10394 FSCN2 Seb Lunke Classified gene: FSCN2 as Red List (low evidence)
Mendeliome v0.10394 FSCN2 Seb Lunke Gene: fscn2 has been classified as Red List (Low Evidence).
Mendeliome v0.10394 FSCN2 Seb Lunke Classified gene: FSCN2 as Red List (low evidence)
Mendeliome v0.10394 FSCN2 Seb Lunke Gene: fscn2 has been classified as Red List (Low Evidence).
Mendeliome v0.10393 FSCN2 Seb Lunke reviewed gene: FSCN2: Rating: RED; Mode of pathogenicity: None; Publications: 11527955, 16043865, 16280978, 17251446, 18450588; Phenotypes: Retinitis pigmentosa 30 MIM#607921, Macular degeneration; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.10393 AUTS2 Zornitza Stark Phenotypes for gene: AUTS2 were changed from Mental retardation, autosomal dominant 26, MIM#615834 to Intellectual developmental disorder, autosomal dominant 26, MIM# 615834
Mendeliome v0.10392 AUTS2 Zornitza Stark edited their review of gene: AUTS2: Changed phenotypes: Intellectual developmental disorder, autosomal dominant 26, MIM# 615834
Mendeliome v0.10392 AUH Zornitza Stark Marked gene: AUH as ready
Mendeliome v0.10392 AUH Zornitza Stark Gene: auh has been classified as Green List (High Evidence).
Mendeliome v0.10392 AUH Zornitza Stark Phenotypes for gene: AUH were changed from to 3-methylglutaconic aciduria, type I, MIM# 250950
Mendeliome v0.10391 AUH Zornitza Stark Publications for gene: AUH were set to
Mendeliome v0.10390 AUH Zornitza Stark Mode of inheritance for gene: AUH was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.10389 AUH Zornitza Stark reviewed gene: AUH: Rating: GREEN; Mode of pathogenicity: None; Publications: 12434311, 16354225, 20855850, 21840233; Phenotypes: 3-methylglutaconic aciduria, type I, MIM# 250950; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.10389 ATP8B1 Zornitza Stark edited their review of gene: ATP8B1: Changed phenotypes: Cholestasis, progressive familial intrahepatic 1, MIM# 211600, Cholestasis, benign recurrent intrahepatic, MIM# 243300, Cholestasis, intrahepatic, of pregnancy, 1, MIM# 147480
Mendeliome v0.10389 ATP8B1 Zornitza Stark Marked gene: ATP8B1 as ready
Mendeliome v0.10389 ATP8B1 Zornitza Stark Gene: atp8b1 has been classified as Green List (High Evidence).
Mendeliome v0.10389 ATP8B1 Zornitza Stark changed review comment from: Well established gene-disease association, early onset of cholestasis that progresses to hepatic fibrosis, cirrhosis, and end-stage liver failure.

Spectrum of severity, with missense variants causing milder/benign disease. Mono-allelic variants linked to cholestasis of pregnancy.; to: Spectrum of severity, with missense variants causing milder/benign disease. Mono-allelic variants linked to cholestasis of pregnancy.
Mendeliome v0.10389 ATP8B1 Zornitza Stark changed review comment from: Well established gene-disease association, early onset of cholestasis that progresses to hepatic fibrosis, cirrhosis, and end-stage liver failure.

Spectrum of severity. Mono-allelic variants linked to cholestasis of pregnancy.; to: Well established gene-disease association, early onset of cholestasis that progresses to hepatic fibrosis, cirrhosis, and end-stage liver failure.

Spectrum of severity, with missense variants causing milder/benign disease. Mono-allelic variants linked to cholestasis of pregnancy.
Mendeliome v0.10389 ATP8B1 Zornitza Stark changed review comment from: Well established gene-disease association, early onset of cholestasis that progresses to hepatic fibrosis, cirrhosis, and end-stage liver failure.; to: Well established gene-disease association, early onset of cholestasis that progresses to hepatic fibrosis, cirrhosis, and end-stage liver failure.

Spectrum of severity. Mono-allelic variants linked to cholestasis of pregnancy.
Mendeliome v0.10389 ATP8B1 Zornitza Stark edited their review of gene: ATP8B1: Changed mode of inheritance: BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Mendeliome v0.10389 ATP8B1 Zornitza Stark Mode of inheritance for gene: ATP8B1 was changed from BIALLELIC, autosomal or pseudoautosomal to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Mendeliome v0.10388 ATP8B1 Zornitza Stark Phenotypes for gene: ATP8B1 were changed from Cholestasis, progressive familial intrahepatic 1, MIM# 211600; Cholestasis, benign recurrent intrahepatic, MIM# 243300 to Cholestasis, progressive familial intrahepatic 1, MIM# 211600; Cholestasis, benign recurrent intrahepatic, MIM# 243300; Cholestasis, intrahepatic, of pregnancy, 1, MIM# 147480
Mendeliome v0.10387 ATP8B1 Zornitza Stark Publications for gene: ATP8B1 were set to
Mendeliome v0.10386 ATP8B1 Zornitza Stark Phenotypes for gene: ATP8B1 were changed from to Cholestasis, progressive familial intrahepatic 1, MIM# 211600; Cholestasis, benign recurrent intrahepatic, MIM# 243300
Mendeliome v0.10385 ATP8B1 Zornitza Stark Mode of inheritance for gene: ATP8B1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.10384 ATP8B1 Zornitza Stark reviewed gene: ATP8B1: Rating: GREEN; Mode of pathogenicity: None; Publications: 15239083; Phenotypes: Cholestasis, progressive familial intrahepatic 1, MIM# 211600; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.10384 RNF213 Zornitza Stark Marked gene: RNF213 as ready
Mendeliome v0.10384 RNF213 Zornitza Stark Gene: rnf213 has been classified as Green List (High Evidence).
Mendeliome v0.10384 RNF213 Zornitza Stark Phenotypes for gene: RNF213 were changed from to Susceptibility to Moyamoya disease 2, (MIM# 607151)
Mendeliome v0.10383 RNF213 Zornitza Stark Mode of inheritance for gene: RNF213 was changed from Unknown to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Mendeliome v0.10382 DRD5 Zornitza Stark Marked gene: DRD5 as ready
Mendeliome v0.10382 DRD5 Zornitza Stark Gene: drd5 has been classified as Red List (Low Evidence).
Mendeliome v0.10382 DRD5 Zornitza Stark Classified gene: DRD5 as Red List (low evidence)
Mendeliome v0.10382 DRD5 Zornitza Stark Gene: drd5 has been classified as Red List (Low Evidence).
Mendeliome v0.10381 AXIN1 Zornitza Stark Marked gene: AXIN1 as ready
Mendeliome v0.10381 AXIN1 Zornitza Stark Gene: axin1 has been classified as Red List (Low Evidence).
Mendeliome v0.10381 AXIN1 Zornitza Stark Phenotypes for gene: AXIN1 were changed from to Caudal duplication anomaly, MIM# 607864
Mendeliome v0.10380 AXIN1 Zornitza Stark Publications for gene: AXIN1 were set to
Mendeliome v0.10379 AXIN1 Zornitza Stark Classified gene: AXIN1 as Red List (low evidence)
Mendeliome v0.10379 AXIN1 Zornitza Stark Gene: axin1 has been classified as Red List (Low Evidence).
Mendeliome v0.10378 AXIN1 Zornitza Stark reviewed gene: AXIN1: Rating: RED; Mode of pathogenicity: None; Publications: 9335612; Phenotypes: Caudal duplication anomaly, MIM# 607864; Mode of inheritance: None
Mendeliome v0.10378 ASL Zornitza Stark Marked gene: ASL as ready
Mendeliome v0.10378 ASL Zornitza Stark Gene: asl has been classified as Green List (High Evidence).
Mendeliome v0.10378 ASL Zornitza Stark Publications for gene: ASL were set to
Mendeliome v0.10377 ASL Zornitza Stark Phenotypes for gene: ASL were changed from to Argininosuccinic aciduria MIM#207900; Urea cycle disorders and inherited hyperammonaemias; disorder of amino acid metabolism
Mendeliome v0.10376 ASL Zornitza Stark Mode of inheritance for gene: ASL was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.10375 ARG1 Zornitza Stark Marked gene: ARG1 as ready
Mendeliome v0.10375 ARG1 Zornitza Stark Gene: arg1 has been classified as Green List (High Evidence).
Mendeliome v0.10375 ARG1 Zornitza Stark Phenotypes for gene: ARG1 were changed from to Argininaemia MIM#207800; Urea cycle disorders and inherited hyperammonaemias; disorder of arginine metabolism
Mendeliome v0.10374 ARG1 Zornitza Stark Publications for gene: ARG1 were set to
Mendeliome v0.10373 ARG1 Zornitza Stark Mode of inheritance for gene: ARG1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.10372 TWIST2 Zornitza Stark Marked gene: TWIST2 as ready
Mendeliome v0.10372 TWIST2 Zornitza Stark Gene: twist2 has been classified as Green List (High Evidence).
Mendeliome v0.10372 TWIST2 Zornitza Stark Phenotypes for gene: TWIST2 were changed from to Ablepharon-macrostomia syndrome, MIM# 200110; Barber-Say syndrome, MIM# 209885; Focal facial dermal dysplasia 3, Setleis type, MIM# 227260
Mendeliome v0.10371 TWIST2 Zornitza Stark Publications for gene: TWIST2 were set to
Mendeliome v0.10370 TWIST2 Zornitza Stark Mode of inheritance for gene: TWIST2 was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Mendeliome v0.10369 TWIST2 Zornitza Stark reviewed gene: TWIST2: Rating: GREEN; Mode of pathogenicity: None; Publications: 26119818, 20691403, 21931173, 26119818; Phenotypes: Ablepharon-macrostomia syndrome, MIM# 200110, Barber-Say syndrome, MIM# 209885, Focal facial dermal dysplasia 3, Setleis type, MIM# 227260; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Mendeliome v0.10369 RNF213 Ain Roesley reviewed gene: RNF213: Rating: GREEN; Mode of pathogenicity: None; Publications: 28635953; Phenotypes: usceptibility to Moyamoya disease 2, (MIM# 607151); Mode of inheritance: BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal; Current diagnostic: yes
Mendeliome v0.10369 DRD5 Ain Roesley reviewed gene: DRD5: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None; Current diagnostic: yes
Mendeliome v0.10369 AXIN1 Ain Roesley reviewed gene: AXIN1: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None; Current diagnostic: yes
Mendeliome v0.10369 APTX Zornitza Stark Marked gene: APTX as ready
Mendeliome v0.10369 APTX Zornitza Stark Gene: aptx has been classified as Green List (High Evidence).
Mendeliome v0.10369 APTX Zornitza Stark Phenotypes for gene: APTX were changed from to Ataxia, early-onset, with oculomotor apraxia and hypoalbuminaemia MIM#208920
Mendeliome v0.10368 APTX Zornitza Stark Publications for gene: APTX were set to
Mendeliome v0.10367 APTX Zornitza Stark Mode of inheritance for gene: APTX was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.10366 APTX Zornitza Stark reviewed gene: APTX: Rating: GREEN; Mode of pathogenicity: None; Publications: 30986824, 26256098, 11586299; Phenotypes: Ataxia, early-onset, with oculomotor apraxia and hypoalbuminaemia MIM#208920; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.10366 ALDH4A1 Zornitza Stark Marked gene: ALDH4A1 as ready
Mendeliome v0.10366 ALDH4A1 Zornitza Stark Gene: aldh4a1 has been classified as Green List (High Evidence).
Mendeliome v0.10366 ALDH4A1 Zornitza Stark Phenotypes for gene: ALDH4A1 were changed from to Hyperprolinemia, type II MIM#239510; disorders of ornithine or proline metabolism
Mendeliome v0.10365 ALDH4A1 Zornitza Stark Publications for gene: ALDH4A1 were set to
Mendeliome v0.10364 ALDH4A1 Zornitza Stark Mode of inheritance for gene: ALDH4A1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.10363 ALDH4A1 Zornitza Stark reviewed gene: ALDH4A1: Rating: GREEN; Mode of pathogenicity: None; Publications: 9700195, 34037900, 31884946; Phenotypes: Hyperprolinaemia, type II, MIM# 239510; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.10363 VLDLR Zornitza Stark Marked gene: VLDLR as ready
Mendeliome v0.10363 VLDLR Zornitza Stark Gene: vldlr has been classified as Green List (High Evidence).
Mendeliome v0.10363 VLDLR Zornitza Stark Phenotypes for gene: VLDLR were changed from to Cerebellar hypoplasia and mental retardation with or without quadrupedal locomotion 1, MIM# 224050
Mendeliome v0.10362 VLDLR Zornitza Stark Publications for gene: VLDLR were set to
Mendeliome v0.10361 VLDLR Zornitza Stark Mode of inheritance for gene: VLDLR was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.10360 VLDLR Zornitza Stark reviewed gene: VLDLR: Rating: GREEN; Mode of pathogenicity: None; Publications: 16080122, 18326629, 10380922; Phenotypes: Cerebellar hypoplasia and mental retardation with or without quadrupedal locomotion 1, MIM# 224050; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.10360 CSTF2 Zornitza Stark Marked gene: CSTF2 as ready
Mendeliome v0.10360 CSTF2 Zornitza Stark Gene: cstf2 has been classified as Amber List (Moderate Evidence).
Mendeliome v0.10360 CSTF2 Zornitza Stark Classified gene: CSTF2 as Amber List (moderate evidence)
Mendeliome v0.10360 CSTF2 Zornitza Stark Gene: cstf2 has been classified as Amber List (Moderate Evidence).
Mendeliome v0.10359 CSTF2 Zornitza Stark gene: CSTF2 was added
gene: CSTF2 was added to Mendeliome. Sources: Literature
Mode of inheritance for gene: CSTF2 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Publications for gene: CSTF2 were set to 32816001
Phenotypes for gene: CSTF2 were set to Intellectual disability
Review for gene: CSTF2 was set to AMBER
Added comment: Four individuals from a single family, spanning two generations, segregating a missense variant. Functional data, including a mouse model and a gene reporter assay.
Sources: Literature
Mendeliome v0.10358 ALAD Zornitza Stark Marked gene: ALAD as ready
Mendeliome v0.10358 ALAD Zornitza Stark Gene: alad has been classified as Green List (High Evidence).
Mendeliome v0.10358 ALAD Zornitza Stark Phenotypes for gene: ALAD were changed from to Porphyria, acute hepatic , MIM#612740
Mendeliome v0.10357 ALAD Zornitza Stark Publications for gene: ALAD were set to
Mendeliome v0.10356 ALAD Zornitza Stark Mode of inheritance for gene: ALAD was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.10355 ALAD Zornitza Stark reviewed gene: ALAD: Rating: GREEN; Mode of pathogenicity: None; Publications: 16343966, 30724374, 2063868, 1569184, 15303011; Phenotypes: Porphyria, acute hepatic , MIM#612740; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.10355 HMGCR Zornitza Stark Phenotypes for gene: HMGCR were changed from to [Low density lipoprotein cholesterol level QTL 3]
Mendeliome v0.10354 HMGCR Zornitza Stark Marked gene: HMGCR as ready
Mendeliome v0.10354 HMGCR Zornitza Stark Gene: hmgcr has been classified as Red List (Low Evidence).
Mendeliome v0.10354 HMGCR Zornitza Stark Publications for gene: HMGCR were set to
Mendeliome v0.10353 HMGCR Zornitza Stark Classified gene: HMGCR as Red List (low evidence)
Mendeliome v0.10353 HMGCR Zornitza Stark Gene: hmgcr has been classified as Red List (Low Evidence).
Mendeliome v0.10352 HMGCR Lucy Spencer reviewed gene: HMGCR: Rating: RED; Mode of pathogenicity: None; Publications: PMID: 18354102, 29480216; Phenotypes: ; Mode of inheritance: None
Mendeliome v0.10352 FLVCR2 Zornitza Stark Marked gene: FLVCR2 as ready
Mendeliome v0.10352 FLVCR2 Zornitza Stark Gene: flvcr2 has been classified as Green List (High Evidence).
Mendeliome v0.10352 FLVCR2 Zornitza Stark Phenotypes for gene: FLVCR2 were changed from to Proliferative vasculopathy and hydranencephaly-hydrocephaly syndrome, MIM# 225790
Mendeliome v0.10351 FLVCR2 Zornitza Stark Publications for gene: FLVCR2 were set to
Mendeliome v0.10350 FLVCR2 Zornitza Stark Mode of inheritance for gene: FLVCR2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.10349 FLVCR2 Zornitza Stark reviewed gene: FLVCR2: Rating: GREEN; Mode of pathogenicity: None; Publications: 30712878, 20206334, 20518025, 20690116, 25677735; Phenotypes: Proliferative vasculopathy and hydranencephaly-hydrocephaly syndrome, MIM# 225790; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.10349 FLT4 Zornitza Stark Marked gene: FLT4 as ready
Mendeliome v0.10349 FLT4 Zornitza Stark Gene: flt4 has been classified as Green List (High Evidence).
Mendeliome v0.10349 FLT4 Zornitza Stark Phenotypes for gene: FLT4 were changed from to Congenital heart defects, multiple types, 7, MIM# 618780; Lymphatic malformation 1, MIM# 153100
Mendeliome v0.10348 FLT4 Zornitza Stark Publications for gene: FLT4 were set to
Mendeliome v0.10347 FLT4 Zornitza Stark Mode of inheritance for gene: FLT4 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.10346 FLT4 Zornitza Stark reviewed gene: FLT4: Rating: GREEN; Mode of pathogenicity: None; Publications: 9817924, 10835628, 12960217, 30232381; Phenotypes: Congenital heart defects, multiple types, 7, MIM# 618780, Lymphatic malformation 1, MIM# 153100; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.10346 RNF212 Zornitza Stark Phenotypes for gene: RNF212 were changed from Recombination rate QTL 1, MIM#612042 to Recombination rate QTL 1, MIM#612042; Spermatogenic failure 62, MIM# 619673
Mendeliome v0.10345 RNF212 Zornitza Stark Publications for gene: RNF212 were set to 18239089; 29277047
Mendeliome v0.10344 RNF212 Zornitza Stark Mode of inheritance for gene: RNF212 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.10343 RNF212 Zornitza Stark reviewed gene: RNF212: Rating: RED; Mode of pathogenicity: None; Publications: 31125047, 23396135; Phenotypes: Spermatogenic failure 62, MIM# 619673; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.10343 STAG3 Zornitza Stark Phenotypes for gene: STAG3 were changed from Premature ovarian failure 8 MIM#615723 to Premature ovarian failure 8 MIM#615723; Spermatogenic failure 61, MIM# 619672
Mendeliome v0.10342 STAG3 Zornitza Stark Publications for gene: STAG3 were set to 24597867; 26059840; 31803224; 31363903
Mendeliome v0.10341 STAG3 Zornitza Stark reviewed gene: STAG3: Rating: GREEN; Mode of pathogenicity: None; Publications: 31125047, 31682730, 32634216; Phenotypes: Spermatogenic failure 61, MIM# 619672; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.10341 FBLN5 Zornitza Stark Marked gene: FBLN5 as ready
Mendeliome v0.10341 FBLN5 Zornitza Stark Gene: fbln5 has been classified as Green List (High Evidence).
Mendeliome v0.10341 FBLN5 Zornitza Stark Phenotypes for gene: FBLN5 were changed from to Cutis laxa, autosomal recessive, type IA, MIM#219100; Neuropathy, hereditary, with or without age-related macular degeneration (MIM#608895)
Mendeliome v0.10340 FBLN5 Zornitza Stark Publications for gene: FBLN5 were set to
Mendeliome v0.10339 FBLN5 Zornitza Stark Mode of inheritance for gene: FBLN5 was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Mendeliome v0.10338 FBLN5 Zornitza Stark changed review comment from: Cutis laxa: >3 families reported with bi-allelic variants and functional data including mouse model. Single individual reported in 2003 with mono-allelic disease (large intragenic duplication).

Neuropathy +/- macular degeneration:
PMID: 32757322
- 38 individuals from 19 families
- all missense, R373C, D329V and R331H
- some carriers were subjectively healthy although pes cavus, diminished or absent deep tendon reflexesor NCV studies indicate peripheral neuropathy

PMID: 31945625
- 1 family with 2 affecteds, R373C
- 1 obligate carrier presented no symptoms

PMID: 28332470
- 3 affecteds in 1 family with R373C; to: Cutis laxa: >3 families reported with bi-allelic variants and functional data including mouse model. Single individual reported in 2003 with mono-allelic disease (large intragenic duplication).
Mendeliome v0.10338 FBLN5 Zornitza Stark reviewed gene: FBLN5: Rating: GREEN; Mode of pathogenicity: None; Publications: 12618961, 3232707, 22829427, 11805835, 32757322, 31945625, 23328402, 28332470; Phenotypes: Cutis laxa, autosomal recessive, type IA, MIM#219100, Neuropathy, hereditary, with or without age-related macular degeneration (MIM#608895); Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Mendeliome v0.10338 KCNJ8 Zornitza Stark Phenotypes for gene: KCNJ8 were changed from Cantú Syndrome to Cantú Syndrome
Mendeliome v0.10337 KCNJ8 Zornitza Stark Phenotypes for gene: KCNJ8 were changed from Brugada syndrome to Cantú Syndrome
Mendeliome v0.10336 KCNJ8 Zornitza Stark Publications for gene: KCNJ8 were set to 29959160
Mendeliome v0.10335 KCNJ8 Zornitza Stark Mode of pathogenicity for gene: KCNJ8 was changed from to Other
Mendeliome v0.10334 KCNJ8 Zornitza Stark Classified gene: KCNJ8 as Green List (high evidence)
Mendeliome v0.10334 KCNJ8 Zornitza Stark Gene: kcnj8 has been classified as Green List (High Evidence).
Mendeliome v0.10333 KCNJ8 Daniel Flanagan reviewed gene: KCNJ8: Rating: GREEN; Mode of pathogenicity: Other; Publications: 24176758, 24700710, 32215968; Phenotypes: Cantú Syndrome; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.10333 CITED2 Zornitza Stark Marked gene: CITED2 as ready
Mendeliome v0.10333 CITED2 Zornitza Stark Gene: cited2 has been classified as Green List (High Evidence).
Mendeliome v0.10333 CITED2 Zornitza Stark Phenotypes for gene: CITED2 were changed from to Atrial septal defect 8 - MIM#614433; Ventricular septal defect 2 - MIM#614431
Mendeliome v0.10332 CITED2 Zornitza Stark Publications for gene: CITED2 were set to
Mendeliome v0.10331 CITED2 Zornitza Stark Mode of inheritance for gene: CITED2 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.10330 VPS53 Zornitza Stark reviewed gene: VPS53: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Pontocerebellar hypoplasia, type 2E, OMIM #615851; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.10330 VPS53 Zornitza Stark Tag founder tag was added to gene: VPS53.
Mendeliome v0.10330 VPS53 Zornitza Stark Phenotypes for gene: VPS53 were changed from to Pontocerebellar hypoplasia, type 2E, OMIM #615851
Mendeliome v0.10329 VPS53 Zornitza Stark Publications for gene: VPS53 were set to
Mendeliome v0.10328 VPS53 Zornitza Stark Mode of inheritance for gene: VPS53 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.10327 NKX2-6 Zornitza Stark Marked gene: NKX2-6 as ready
Mendeliome v0.10327 NKX2-6 Zornitza Stark Gene: nkx2-6 has been classified as Green List (High Evidence).
Mendeliome v0.10327 NKX2-6 Zornitza Stark Phenotypes for gene: NKX2-6 were changed from to Conotruncal heart malformations - MIM#217095; Persistent truncus arteriosus - MIM#217095
Mendeliome v0.10326 NKX2-6 Zornitza Stark Publications for gene: NKX2-6 were set to
Mendeliome v0.10325 NKX2-6 Zornitza Stark Mode of inheritance for gene: NKX2-6 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.10324 WNT10B Zornitza Stark Phenotypes for gene: WNT10B were changed from to Split-hand/foot malformation 6, OMIM #601906; Tooth agenesis, selective, 8, OMIM #617073
Mendeliome v0.10323 WNT10B Zornitza Stark Publications for gene: WNT10B were set to
Mendeliome v0.10322 WNT10B Zornitza Stark Mode of inheritance for gene: WNT10B was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Mendeliome v0.10321 CITED2 Krithika Murali reviewed gene: CITED2: Rating: GREEN; Mode of pathogenicity: None; Publications: 33706167, 33439552, 31515672, 29536580; Phenotypes: Atrial septal defect 8 - MIM#614433, Ventricular septal defect 2 - MIM#614431; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.10321 YY1 Zornitza Stark Marked gene: YY1 as ready
Mendeliome v0.10321 YY1 Zornitza Stark Gene: yy1 has been classified as Green List (High Evidence).
Mendeliome v0.10321 YY1 Zornitza Stark Phenotypes for gene: YY1 were changed from to Gabriele-de Vries syndrome, OMIM #617557
Mendeliome v0.10320 YY1 Zornitza Stark Publications for gene: YY1 were set to
Mendeliome v0.10319 YY1 Zornitza Stark Mode of inheritance for gene: YY1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.10318 NKX2-6 Krithika Murali reviewed gene: NKX2-6: Rating: GREEN; Mode of pathogenicity: None; Publications: 24421281, 15649947, 32198970, 25380965, 25319568; Phenotypes: Conotruncal heart malformations - MIM#217095, Persistent truncus arteriosus - MIM#217095; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.10318 GM2A Zornitza Stark Marked gene: GM2A as ready
Mendeliome v0.10318 GM2A Zornitza Stark Gene: gm2a has been classified as Green List (High Evidence).
Mendeliome v0.10318 GM2A Zornitza Stark Phenotypes for gene: GM2A were changed from to GM2-gangliosidosis, AB variant MIM#272750
Mendeliome v0.10317 GM2A Zornitza Stark Publications for gene: GM2A were set to
Mendeliome v0.10316 GM2A Zornitza Stark Mode of inheritance for gene: GM2A was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.10315 GFRA1 Zornitza Stark Publications for gene: GFRA1 were set to 33020172
Mendeliome v0.10314 GFRA1 Zornitza Stark Classified gene: GFRA1 as Green List (high evidence)
Mendeliome v0.10314 GFRA1 Zornitza Stark Gene: gfra1 has been classified as Green List (High Evidence).
Mendeliome v0.10313 GFRA1 Zornitza Stark edited their review of gene: GFRA1: Changed rating: GREEN; Changed publications: 33020172, 34737117
Mendeliome v0.10313 VPS53 Alison Yeung Marked gene: VPS53 as ready
Mendeliome v0.10313 VPS53 Alison Yeung Gene: vps53 has been classified as Green List (High Evidence).
Mendeliome v0.10313 VPS53 Alison Yeung reviewed gene: VPS53: Rating: GREEN; Mode of pathogenicity: None; Publications: 24577744, 12920088; Phenotypes: Pontocerebellar hypoplasia, type 2E, OMIM #615851; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.10313 GLI1 Zornitza Stark Marked gene: GLI1 as ready
Mendeliome v0.10313 GLI1 Zornitza Stark Gene: gli1 has been classified as Green List (High Evidence).
Mendeliome v0.10313 GLI1 Zornitza Stark Classified gene: GLI1 as Green List (high evidence)
Mendeliome v0.10313 GLI1 Zornitza Stark Gene: gli1 has been classified as Green List (High Evidence).
Mendeliome v0.10312 WNT10B Alison Yeung Marked gene: WNT10B as ready
Mendeliome v0.10312 WNT10B Alison Yeung Gene: wnt10b has been classified as Green List (High Evidence).
Mendeliome v0.10312 WNT10B Alison Yeung reviewed gene: WNT10B: Rating: GREEN; Mode of pathogenicity: None; Publications: 20635353, 24211389, 27321946; Phenotypes: Split-hand/foot malformation 6, OMIM #601906, Tooth agenesis, selective, 8, OMIM #617073; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Mendeliome v0.10312 FAM126A Belinda Chong reviewed gene: FAM126A: Rating: GREEN; Mode of pathogenicity: None; Publications: 21911699, 17928815, 17683097, 16951682; Phenotypes: Leukodystrophy, hypomyelinating, 5 MIM#610532; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Mendeliome v0.10312 YY1 Alison Yeung reviewed gene: YY1: Rating: GREEN; Mode of pathogenicity: None; Publications: 28575647; Phenotypes: Gabriele-de Vries syndrome, OMIM #617557; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.10312 GM2A Ain Roesley reviewed gene: GM2A: Rating: GREEN; Mode of pathogenicity: None; Publications: 28417072, 28192816, 27402091, 33819415; Phenotypes: GM2-gangliosidosis, AB variant MIM#272750; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Mendeliome v0.10312 GLI1 Ain Roesley gene: GLI1 was added
gene: GLI1 was added to Mendeliome. Sources: Literature
Mode of inheritance for gene: GLI1 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Publications for gene: GLI1 were set to 34721536; 31621941; 31549748; 30620395
Phenotypes for gene: GLI1 were set to Polydactyly, postaxial, type A8 MIM#618123; Polydactyly, preaxial I MIM#174400
Penetrance for gene: GLI1 were set to unknown
Review for gene: GLI1 was set to GREEN
gene: GLI1 was marked as current diagnostic
Added comment: >10 unrelated probands reported, both AD and AR reported
Sources: Literature
Mendeliome v0.10312 GFRA1 Ain Roesley reviewed gene: GFRA1: Rating: GREEN; Mode of pathogenicity: None; Publications: 34737117; Phenotypes: renal agenesis; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Mendeliome v0.10312 ADAMTS2 Zornitza Stark Marked gene: ADAMTS2 as ready
Mendeliome v0.10312 ADAMTS2 Zornitza Stark Gene: adamts2 has been classified as Green List (High Evidence).
Mendeliome v0.10312 ADAMTS2 Zornitza Stark Phenotypes for gene: ADAMTS2 were changed from to Ehlers-Danlos syndrome, dermatosparaxis type (MIM# 225410)
Mendeliome v0.10311 ADAMTS2 Zornitza Stark Publications for gene: ADAMTS2 were set to
Mendeliome v0.10310 ADAMTS2 Zornitza Stark Mode of inheritance for gene: ADAMTS2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.10309 ADAMTS2 Zornitza Stark reviewed gene: ADAMTS2: Rating: GREEN; Mode of pathogenicity: None; Publications: 30071989, 26765342, 28306229; Phenotypes: Ehlers-Danlos syndrome, dermatosparaxis type (MIM# 225410); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.10309 AIPL1 Zornitza Stark Phenotypes for gene: AIPL1 were changed from Leber congenital amaurosis 4, 604393 Cone-rod dystrophy, 604393 Retinitis pigmentosa, juvenile, 604393 to Leber congenital amaurosis 4, 604393; Cone-rod dystrophy, 604393; Retinitis pigmentosa, juvenile, 604393
Mendeliome v0.10308 AIPL1 Zornitza Stark edited their review of gene: AIPL1: Changed phenotypes: Leber congenital amaurosis 4, 604393, Cone-rod dystrophy, 604393, Retinitis pigmentosa, juvenile, 604393
Mendeliome v0.10308 AGA Zornitza Stark changed review comment from: Aspartylglucosaminuria (AGU) is a severe autosomal recessive lysosomal storage disorder that involves the central nervous system and causes skeletal abnormalities as well as connective tissue lesions. The most characteristic feature is progressive mental retardation. Multiple families and mouse model.; to: Aspartylglucosaminuria (AGU) is a severe autosomal recessive lysosomal storage disorder that involves the central nervous system and causes skeletal abnormalities as well as connective tissue lesions. The most characteristic feature is progressive ID. Multiple families and mouse model.
Mendeliome v0.10308 ACAT1 Zornitza Stark Marked gene: ACAT1 as ready
Mendeliome v0.10308 ACAT1 Zornitza Stark Gene: acat1 has been classified as Green List (High Evidence).
Mendeliome v0.10308 ACAT1 Zornitza Stark Phenotypes for gene: ACAT1 were changed from to Alpha-methylacetoacetic aciduria, MIM#203750; Beta-ketothiolase deficiency MONDO:0008760
Mendeliome v0.10307 ACAT1 Zornitza Stark Mode of inheritance for gene: ACAT1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.10306 ACAT1 Zornitza Stark reviewed gene: ACAT1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Alpha-methylacetoacetic aciduria, MIM#203750, Beta-ketothiolase deficiency MONDO:0008760; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.10306 ACADS Zornitza Stark Marked gene: ACADS as ready
Mendeliome v0.10306 ACADS Zornitza Stark Gene: acads has been classified as Green List (High Evidence).
Mendeliome v0.10306 ACADS Zornitza Stark Phenotypes for gene: ACADS were changed from Acyl-CoA dehydrogenase, short-chain, deficiency of, MIM# 201470 to Acyl-CoA dehydrogenase, short-chain, deficiency of, MIM# 201470; MONDO:0008722
Mendeliome v0.10305 ACADS Zornitza Stark Phenotypes for gene: ACADS were changed from to Acyl-CoA dehydrogenase, short-chain, deficiency of, MIM# 201470
Mendeliome v0.10304 ACADS Zornitza Stark Mode of inheritance for gene: ACADS was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.10303 ACADS Zornitza Stark reviewed gene: ACADS: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Acyl-CoA dehydrogenase, short-chain, deficiency of, MIM# 201470; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.10303 ACADM Zornitza Stark Marked gene: ACADM as ready
Mendeliome v0.10303 ACADM Zornitza Stark Gene: acadm has been classified as Green List (High Evidence).
Mendeliome v0.10303 ACADM Zornitza Stark Phenotypes for gene: ACADM were changed from to Acyl-CoA dehydrogenase, medium chain, deficiency of, MIM# 201450
Mendeliome v0.10302 ACADM Zornitza Stark Mode of inheritance for gene: ACADM was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.10301 ACADM Zornitza Stark reviewed gene: ACADM: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Acyl-CoA dehydrogenase, medium chain, deficiency of, MIM# 201450; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.10301 CYP26B1 Zornitza Stark Marked gene: CYP26B1 as ready
Mendeliome v0.10301 CYP26B1 Zornitza Stark Gene: cyp26b1 has been classified as Green List (High Evidence).
Mendeliome v0.10301 CYP26B1 Zornitza Stark Phenotypes for gene: CYP26B1 were changed from to Craniosynostosis with radiohumeral fusions and other skeletal and craniofacial anomalies, MIM# 614416
Mendeliome v0.10300 CYP26B1 Zornitza Stark Publications for gene: CYP26B1 were set to
Mendeliome v0.10299 CYP26B1 Zornitza Stark Mode of inheritance for gene: CYP26B1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.10298 CYP26B1 Zornitza Stark reviewed gene: CYP26B1: Rating: GREEN; Mode of pathogenicity: None; Publications: 27410456, 22019272; Phenotypes: Craniosynostosis with radiohumeral fusions and other skeletal and craniofacial anomalies, MIM# 614416; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.10298 CTU2 Zornitza Stark Marked gene: CTU2 as ready
Mendeliome v0.10298 CTU2 Zornitza Stark Gene: ctu2 has been classified as Green List (High Evidence).
Mendeliome v0.10298 CTU2 Zornitza Stark Phenotypes for gene: CTU2 were changed from to Microcephaly, facial dysmorphism, renal agenesis, and ambiguous genitalia syndrome, MIM#618142
Mendeliome v0.10297 CTU2 Zornitza Stark Publications for gene: CTU2 were set to
Mendeliome v0.10296 CTU2 Zornitza Stark Mode of inheritance for gene: CTU2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.10295 CTU2 Zornitza Stark reviewed gene: CTU2: Rating: GREEN; Mode of pathogenicity: None; Publications: 27480277, 26633546, 31301155; Phenotypes: Microcephaly, facial dysmorphism, renal agenesis, and ambiguous genitalia syndrome, MIM#618142; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.10295 CTDP1 Zornitza Stark Marked gene: CTDP1 as ready
Mendeliome v0.10295 CTDP1 Zornitza Stark Gene: ctdp1 has been classified as Green List (High Evidence).
Mendeliome v0.10295 CTDP1 Zornitza Stark Phenotypes for gene: CTDP1 were changed from to Congenital cataracts, facial dysmorphism, and neuropathy, MIM# 604168
Mendeliome v0.10294 CTDP1 Zornitza Stark Publications for gene: CTDP1 were set to
Mendeliome v0.10293 CTDP1 Zornitza Stark Mode of inheritance for gene: CTDP1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.10292 CTDP1 Zornitza Stark Tag deep intronic tag was added to gene: CTDP1.
Tag founder tag was added to gene: CTDP1.
Mendeliome v0.10292 CTDP1 Zornitza Stark reviewed gene: CTDP1: Rating: GREEN; Mode of pathogenicity: None; Publications: 14517542, 24690360, 25529582; Phenotypes: Congenital cataracts, facial dysmorphism, and neuropathy, MIM# 604168; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.10292 CRELD1 Zornitza Stark Classified gene: CRELD1 as Amber List (moderate evidence)
Mendeliome v0.10292 CRELD1 Zornitza Stark Gene: creld1 has been classified as Amber List (Moderate Evidence).
Mendeliome v0.10291 CRELD1 Zornitza Stark commented on gene: CRELD1: Three families reported with heterozygous missense variants and heterotaxy phenotype. However, supporting evidence of pathogenicity for some of the variants is relatively weak.
Mendeliome v0.10291 CRELD1 Zornitza Stark edited their review of gene: CRELD1: Changed rating: AMBER
Mendeliome v0.10291 HHAT Zornitza Stark Classified gene: HHAT as Green List (high evidence)
Mendeliome v0.10291 HHAT Zornitza Stark Gene: hhat has been classified as Green List (High Evidence).
Mendeliome v0.10290 HHAT Zornitza Stark edited their review of gene: HHAT: Added comment: Additional family reported.; Changed rating: GREEN; Changed publications: 24784881, 30912300, 33749989
Mendeliome v0.10290 SPIDR Zornitza Stark Marked gene: SPIDR as ready
Mendeliome v0.10290 SPIDR Zornitza Stark Gene: spidr has been classified as Amber List (Moderate Evidence).
Mendeliome v0.10290 SPIDR Zornitza Stark Phenotypes for gene: SPIDR were changed from Primary ovarian insufficiency to Ovarian dysgenesis 9, MIM# 619665
Mendeliome v0.10289 SPIDR Zornitza Stark reviewed gene: SPIDR: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: Ovarian dysgenesis 9, MIM# 619665; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.10289 KIF12 Zornitza Stark Phenotypes for gene: KIF12 were changed from Cholestasis; High Gamma-Glutamyltransferase (GGT) to Cholestasis, progressive familial intrahepatic, 8, MIM# 619662
Mendeliome v0.10288 KIF12 Zornitza Stark edited their review of gene: KIF12: Changed phenotypes: Cholestasis, progressive familial intrahepatic, 8, MIM# 619662
Mendeliome v0.10288 MED12 Zornitza Stark Phenotypes for gene: MED12 were changed from Ohdo syndrome, X-linked MIM#300895; Lujan-Fryns syndrome MIM#309520; Opitz-Kaveggia syndrome MIM#305450; Hardikar syndrome, OMIM #612726 to Ohdo syndrome, X-linked MIM#300895; Lujan-Fryns syndrome MIM#309520; Opitz-Kaveggia syndrome MIM#305450; Hardikar syndrome, MIM# 301068
Mendeliome v0.10287 MED12 Zornitza Stark edited their review of gene: MED12: Changed phenotypes: Hardikar syndrome, MIM# 301068
Mendeliome v0.10287 TNR Zornitza Stark Phenotypes for gene: TNR were changed from Spastic para- or tetraparesis; Axial muscular hypotonia; Intellectual disability; Transient opisthotonus to Neurodevelopmental disorder, nonprogressive, with spasticity and transient opisthotonus, MIM# 619653; Spastic para- or tetraparesis; Axial muscular hypotonia; Intellectual disability; Transient opisthotonus
Mendeliome v0.10286 TNR Zornitza Stark edited their review of gene: TNR: Changed phenotypes: Neurodevelopmental disorder, nonprogressive, with spasticity and transient opisthotonus, MIM# 619653, Spastic para- or tetraparesis, Axial muscular hypotonia, Intellectual disability, Transient opisthotonus
Mendeliome v0.10286 HHAT Eleanor Williams commented on gene: HHAT
Mendeliome v0.10286 CTSB Zornitza Stark Marked gene: CTSB as ready
Mendeliome v0.10286 CTSB Zornitza Stark Gene: ctsb has been classified as Red List (Low Evidence).
Mendeliome v0.10286 CTSB Zornitza Stark Phenotypes for gene: CTSB were changed from to Keratolytic winter erythema, MIM# 148370
Mendeliome v0.10285 CTSB Zornitza Stark Publications for gene: CTSB were set to
Mendeliome v0.10284 CTSB Zornitza Stark Mode of inheritance for gene: CTSB was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.10283 CTSB Zornitza Stark Classified gene: CTSB as Red List (low evidence)
Mendeliome v0.10283 CTSB Zornitza Stark Gene: ctsb has been classified as Red List (Low Evidence).
Mendeliome v0.10282 CTSB Zornitza Stark Tag SV/CNV tag was added to gene: CTSB.
Mendeliome v0.10282 CTSB Zornitza Stark reviewed gene: CTSB: Rating: RED; Mode of pathogenicity: None; Publications: 28457472; Phenotypes: Keratolytic winter erythema, MIM# 148370; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.10282 ITSN1 Zornitza Stark Phenotypes for gene: ITSN1 were changed from 29773874 to Nephrotic syndrome
Mendeliome v0.10281 ITSN1 Zornitza Stark Publications for gene: ITSN1 were set to
Mendeliome v0.10280 ITSN1 Zornitza Stark edited their review of gene: ITSN1: Changed publications: 29773874; Changed phenotypes: Nephrotic syndrome
Mendeliome v0.10280 MSR1 Zornitza Stark Marked gene: MSR1 as ready
Mendeliome v0.10280 MSR1 Zornitza Stark Gene: msr1 has been classified as Red List (Low Evidence).
Mendeliome v0.10280 MSR1 Zornitza Stark Phenotypes for gene: MSR1 were changed from to Barrett esophagus/esophageal adenocarcinoma, MIM# 614266
Mendeliome v0.10279 MSR1 Zornitza Stark Publications for gene: MSR1 were set to
Mendeliome v0.10278 MSR1 Zornitza Stark Mode of inheritance for gene: MSR1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.10277 MSR1 Zornitza Stark Classified gene: MSR1 as Red List (low evidence)
Mendeliome v0.10277 MSR1 Zornitza Stark Gene: msr1 has been classified as Red List (Low Evidence).
Mendeliome v0.10276 MSR1 Zornitza Stark reviewed gene: MSR1: Rating: RED; Mode of pathogenicity: None; Publications: 12958598, 21791690; Phenotypes: Barrett esophagus/esophageal adenocarcinoma, MIM# 614266; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.10276 CPAMD8 Zornitza Stark Marked gene: CPAMD8 as ready
Mendeliome v0.10276 CPAMD8 Zornitza Stark Gene: cpamd8 has been classified as Green List (High Evidence).
Mendeliome v0.10276 CPAMD8 Zornitza Stark Phenotypes for gene: CPAMD8 were changed from to Anterior segment dysgenesis 8, MIM# 617319
Mendeliome v0.10275 CPAMD8 Zornitza Stark Publications for gene: CPAMD8 were set to
Mendeliome v0.10274 CPAMD8 Zornitza Stark Mode of inheritance for gene: CPAMD8 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.10273 CPAMD8 Zornitza Stark reviewed gene: CPAMD8: Rating: GREEN; Mode of pathogenicity: None; Publications: 32274568; Phenotypes: Anterior segment dysgenesis 8, MIM# 617319; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.10273 USP53 Zornitza Stark Publications for gene: USP53 were set to 30250217; 32124521
Mendeliome v0.10272 USP53 Zornitza Stark changed review comment from: Another 7 unrelated families with cholestasis reported. Jaundice began at age <7 months. Cholestasis was transient, with documented resolution of hyperbilirubinaemia in all (oldest patient aged 5 years). One individual had deafness.; to: Another 11 unrelated families with cholestasis reported. Jaundice began at age <7 months. Cholestasis was transient, with documented resolution of hyperbilirubinaemia in all (oldest patient aged 15 years). Childhood-onset deafness reported in two families.
Mendeliome v0.10272 USP53 Zornitza Stark edited their review of gene: USP53: Changed publications: 30250217, 32124521, 33075013
Mendeliome v0.10272 USP53 Zornitza Stark Phenotypes for gene: USP53 were changed from Cholestasis; deafness to Cholestasis, progressive familial intrahepatic, 7, with or without hearing loss, MIM# 619658
Mendeliome v0.10271 USP53 Zornitza Stark edited their review of gene: USP53: Changed phenotypes: Cholestasis, progressive familial intrahepatic, 7, with or without hearing loss 619658
Mendeliome v0.10271 HOXB1 Zornitza Stark Marked gene: HOXB1 as ready
Mendeliome v0.10271 HOXB1 Zornitza Stark Gene: hoxb1 has been classified as Green List (High Evidence).
Mendeliome v0.10271 HOXB1 Zornitza Stark Publications for gene: HOXB1 were set to
Mendeliome v0.10270 HOXB1 Zornitza Stark Phenotypes for gene: HOXB1 were changed from to Facial paresis, hereditary congenital, 3, MIM# 614744; MONDO:0013880
Mendeliome v0.10269 HOXB1 Zornitza Stark Mode of inheritance for gene: HOXB1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.10268 HOXB1 Zornitza Stark reviewed gene: HOXB1: Rating: GREEN; Mode of pathogenicity: None; Publications: 22770981, 26007620, 27144914; Phenotypes: Facial paresis, hereditary congenital, 3, MIM# 614744; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.10268 COLEC10 Zornitza Stark Marked gene: COLEC10 as ready
Mendeliome v0.10268 COLEC10 Zornitza Stark Gene: colec10 has been classified as Green List (High Evidence).
Mendeliome v0.10268 COLEC10 Zornitza Stark Phenotypes for gene: COLEC10 were changed from to 3MC syndrome 3, MONDO:0009554; 3MC syndrome 3, OMIM:248340
Mendeliome v0.10267 COLEC10 Zornitza Stark Publications for gene: COLEC10 were set to
Mendeliome v0.10266 COLEC10 Zornitza Stark Mode of inheritance for gene: COLEC10 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.10265 COLEC10 Zornitza Stark reviewed gene: COLEC10: Rating: GREEN; Mode of pathogenicity: None; Publications: 28301481, 34740859; Phenotypes: 3MC syndrome 3, MONDO:0009554, 3MC syndrome 3, OMIM:248340; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.10265 COL4A3BP Zornitza Stark Marked gene: COL4A3BP as ready
Mendeliome v0.10265 COL4A3BP Zornitza Stark Gene: col4a3bp has been classified as Green List (High Evidence).
Mendeliome v0.10265 COL4A3BP Zornitza Stark Phenotypes for gene: COL4A3BP were changed from to Mental retardation, autosomal dominant 34, MIM# 616351
Mendeliome v0.10264 COL4A3BP Zornitza Stark Publications for gene: COL4A3BP were set to
Mendeliome v0.10263 COL4A3BP Zornitza Stark Mode of inheritance for gene: COL4A3BP was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.10262 COL4A3BP Zornitza Stark reviewed gene: COL4A3BP: Rating: GREEN; Mode of pathogenicity: None; Publications: 25533962; Phenotypes: Mental retardation, autosomal dominant 34, MIM# 616351; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.10262 MIB1 Zornitza Stark Publications for gene: MIB1 were set to 23314057; 30322850
Mendeliome v0.10261 MIB1 Zornitza Stark Classified gene: MIB1 as Amber List (moderate evidence)
Mendeliome v0.10261 MIB1 Zornitza Stark Gene: mib1 has been classified as Amber List (Moderate Evidence).
Mendeliome v0.10260 MIB1 Zornitza Stark changed review comment from: Comment when marking as ready: Amber for LVNC/cardiomyopathy. Green for congenital heart disease.; to: Comment when marking as ready: RED for LVNC/cardiomyopathy. Amber for congenital heart disease.
Mendeliome v0.10260 ZBTB20 Zornitza Stark Marked gene: ZBTB20 as ready
Mendeliome v0.10260 ZBTB20 Zornitza Stark Gene: zbtb20 has been classified as Green List (High Evidence).
Mendeliome v0.10260 ZBTB20 Zornitza Stark Phenotypes for gene: ZBTB20 were changed from to Primrose syndrome, MIM# 259050
Mendeliome v0.10259 ZBTB20 Zornitza Stark Publications for gene: ZBTB20 were set to
Mendeliome v0.10258 ZBTB20 Zornitza Stark Mode of inheritance for gene: ZBTB20 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.10257 ZBTB20 Zornitza Stark reviewed gene: ZBTB20: Rating: GREEN; Mode of pathogenicity: None; Publications: 25017102, 27061120, 30256248; Phenotypes: Primrose syndrome, MIM# 259050; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.10257 MIB1 Chern Lim changed review comment from: Luxan 2013 (PMID: 23314057):
- V943F, seg with LVNC in 1 fam, (gnomADv2: 43 hets).
- R530X, seg with LVNC in 1 fam, (gv2: 13 hets).

Li 2018 (PMID: 30322850):
- in 4 CHD patients: p.Q237H (gv2v3 absent), p.W271G (gv2v3 absent), p.S520R (v2 5 hets) and p.T312Kfs*55 (NMD-pred, absent but many comparables in gnomAD).
- HEK293T cells transfection studies showed: T312Kfs*55 and W271G strongly impaired MIB1 function on substrate ubiquitination, while Q237H and S520R had slight or no obvious changes. Interaction between MIB1 and JAG1 is severely interrupted by p.T312Kfs*55 and p.W271G, but not really in the other 2 missense.
- Overexpression of wt or mutant in zebrafish all resulted in dysmorphic pheno, therefore not informative.

DCM-association = none by Clingen (9/4/2020), ref Luxan 2013 and other pprs, and mentioned gnomAD had too many LoF variants.

De Ligt 2012 (PMID: 23033978): de novo R174H (gnomADv2: 7 hets), indvl with severe ID who also has a de novo R47* in WAC (an AD ID gene with LoF established, variant is P in ClinVar), no other pt-specific pheno provided.

Kaplanis 2021 (PMID: 33057194): Developmental disorders paper.
- 2 missense variants, de novo: 18-19383967-G-A (p.Glu491Lys, gv2 1 het, gv3 absent, GeneDx), 18-19378124-C-T (Thr391Ile, gv2v3 absent, DDD, de novo, no mention of heart pheno).
- Of 6 PTVs, 4 had at least 10 hets each in gnomADv2.; to: Luxan 2013 (PMID: 23314057):
- V943F, seg with LVNC in 1 fam, (gnomADv2: 43 hets).
- R530X, seg with LVNC in 1 fam, (gv2: 13 hets).

Li 2018 (PMID: 30322850):
- in 4 CHD patients: p.Q237H (gv2v3 absent), p.W271G (gv2v3 absent), p.S520R (v2 5 hets) and p.T312Kfs*55 (NMD-pred, absent but many comparables in gnomAD).
- HEK293T cells transfection studies showed: T312Kfs*55 and W271G strongly impaired MIB1 function on substrate ubiquitination, while Q237H and S520R had slight or no obvious changes. Interaction between MIB1 and JAG1 is severely interrupted by p.T312Kfs*55 and p.W271G, but not really in the other 2 missense.
- Overexpression of wt or mutant in zebrafish all resulted in dysmorphic pheno, therefore not informative.

DCM-association = none by Clingen (9/4/2020), ref Luxan 2013 and other pprs, and mentioned gnomAD had too many LoF variants.

De Ligt 2012 (PMID: 23033978): de novo R174H (gnomADv2: 7 hets), indvl with severe ID who also has a de novo R47* in WAC (an AD ID gene with LoF established, variant is P in ClinVar), no other pt-specific pheno provided.

Kaplanis 2021 (PMID: 33057194): Developmental disorders paper.
- 2 missense variants, de novo: 18-19383967-G-A (p.Glu491Lys, gv2 1 het, gv3 absent), 18-19378124-C-T (Thr391Ile, gv2v3 absent, DDD, de novo, no mention of heart pheno).
- Of 6 PTVs, 4 had at least 10 hets each in gnomADv2.
Mendeliome v0.10257 MIB1 Chern Lim reviewed gene: MIB1: Rating: AMBER; Mode of pathogenicity: None; Publications: 23314057, 30322850, 23033978, 33057194; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.10257 ABO Zornitza Stark Marked gene: ABO as ready
Mendeliome v0.10257 ABO Zornitza Stark Gene: abo has been classified as Red List (Low Evidence).
Mendeliome v0.10257 ABO Zornitza Stark Phenotypes for gene: ABO were changed from to [Blood group, ABO system] MIM#616093
Mendeliome v0.10256 ABO Zornitza Stark Classified gene: ABO as Red List (low evidence)
Mendeliome v0.10256 ABO Zornitza Stark Gene: abo has been classified as Red List (Low Evidence).
Mendeliome v0.10255 TLR1 Zornitza Stark Marked gene: TLR1 as ready
Mendeliome v0.10255 TLR1 Zornitza Stark Gene: tlr1 has been classified as Red List (Low Evidence).
Mendeliome v0.10255 TLR1 Zornitza Stark Phenotypes for gene: TLR1 were changed from to Leprosy, protection against} {Leprosy, susceptibility to, 5} MIM#613223
Mendeliome v0.10254 TLR1 Zornitza Stark Classified gene: TLR1 as Red List (low evidence)
Mendeliome v0.10254 TLR1 Zornitza Stark Gene: tlr1 has been classified as Red List (Low Evidence).
Mendeliome v0.10253 REL Zornitza Stark Phenotypes for gene: REL were changed from Combined immunodeficiency; T cells: normal, decreased memory CD4, poor proliferation; B cells: low, mostly naive, few switched memory B cells, impaired proliferation; Recurrent infections with bacteria, mycobacteria, salmonella and opportunistic organisms; Defective innate immunity to Immunodeficiency 92, MIM# 619652; Combined immunodeficiency; T cells: normal, decreased memory CD4, poor proliferation; B cells: low, mostly naive, few switched memory B cells, impaired proliferation; Recurrent infections with bacteria, mycobacteria, salmonella and opportunistic organisms; Defective innate immunity
Mendeliome v0.10252 REL Zornitza Stark Publications for gene: REL were set to 31103457
Mendeliome v0.10251 REL Zornitza Stark Classified gene: REL as Amber List (moderate evidence)
Mendeliome v0.10251 REL Zornitza Stark Gene: rel has been classified as Amber List (Moderate Evidence).
Mendeliome v0.10250 REL Zornitza Stark changed review comment from: Second unrelated individual reported, homozygous splice site variant.

Immunodeficiency-92 (IMD92) is an autosomal recessive primary immunodeficiency characterized by the onset of recurrent infections in infancy or early childhood. Infectious agents are broad, including bacterial, viral, fungal, and parasitic, including Cryptosporidium and Mycobacteria. Patient lymphocytes show defects in both T- and B-cell proliferation, cytokine secretion, and overall function, and there is also evidence of dysfunction of NK, certain antigen-presenting cells, and myeloid subsets.; to: Second unrelated individual reported, with a different homozygous splice site variant.

Immunodeficiency-92 (IMD92) is an autosomal recessive primary immunodeficiency characterized by the onset of recurrent infections in infancy or early childhood. Infectious agents are broad, including bacterial, viral, fungal, and parasitic, including Cryptosporidium and Mycobacteria. Patient lymphocytes show defects in both T- and B-cell proliferation, cytokine secretion, and overall function, and there is also evidence of dysfunction of NK, certain antigen-presenting cells, and myeloid subsets.
Mendeliome v0.10250 REL Zornitza Stark edited their review of gene: REL: Added comment: Second unrelated individual reported, homozygous splice site variant.

Immunodeficiency-92 (IMD92) is an autosomal recessive primary immunodeficiency characterized by the onset of recurrent infections in infancy or early childhood. Infectious agents are broad, including bacterial, viral, fungal, and parasitic, including Cryptosporidium and Mycobacteria. Patient lymphocytes show defects in both T- and B-cell proliferation, cytokine secretion, and overall function, and there is also evidence of dysfunction of NK, certain antigen-presenting cells, and myeloid subsets.; Changed rating: AMBER; Changed publications: 31103457, 34623332; Changed phenotypes: Immunodeficiency 92, MIM# 619652, Combined immunodeficiency, T cells: normal, decreased memory CD4, poor proliferation, B cells: low, mostly naive, few switched memory B cells, impaired proliferation, Recurrent infections with bacteria, mycobacteria, salmonella and opportunistic organisms, Defective innate immunity
Mendeliome v0.10250 ABO Paul De Fazio reviewed gene: ABO: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: [Blood group, ABO system] MIM#616093; Mode of inheritance: Unknown; Current diagnostic: yes
Mendeliome v0.10250 TLR1 Paul De Fazio reviewed gene: TLR1: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Leprosy, protection against} {Leprosy, susceptibility to, 5} MIM#613223; Mode of inheritance: Unknown; Current diagnostic: yes
Mendeliome v0.10250 SLC26A5 Zornitza Stark Publications for gene: SLC26A5 were set to 24164807
Mendeliome v0.10249 SLC26A5 Zornitza Stark Classified gene: SLC26A5 as Amber List (moderate evidence)
Mendeliome v0.10249 SLC26A5 Zornitza Stark Gene: slc26a5 has been classified as Amber List (Moderate Evidence).
Mendeliome v0.10248 SLC26A5 Zornitza Stark commented on gene: SLC26A5: Another publication identified, plus another individual with bi-allelic variants reported by a diagnostic laboratory. This gene-disease association is supported by mouse models, biochemical function studies and expression studies (12239568, 10821263, 11423665, 12719379, 18466744, 27091614, 17998209). Classified as LIMITED by ClinGen in 2017.
Mendeliome v0.10248 SLC26A5 Zornitza Stark edited their review of gene: SLC26A5: Changed rating: AMBER; Changed publications: 24164807, 12239568, 10821263, 11423665, 12719379, 18466744, 27091614, 17998209
Mendeliome v0.10248 SEMA7A Zornitza Stark Marked gene: SEMA7A as ready
Mendeliome v0.10248 SEMA7A Zornitza Stark Added comment: Comment when marking as ready: AMBER for PFIC. RED for other associations.
Mendeliome v0.10248 SEMA7A Zornitza Stark Gene: sema7a has been classified as Amber List (Moderate Evidence).
Mendeliome v0.10248 SEMA7A Zornitza Stark Phenotypes for gene: SEMA7A were changed from to Decreased bone mineral density; Kallmann syndrome; progressive familial intrahepatic cholestasis
Mendeliome v0.10247 SEMA7A Zornitza Stark Publications for gene: SEMA7A were set to
Mendeliome v0.10246 SEMA7A Zornitza Stark Mode of inheritance for gene: SEMA7A was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Mendeliome v0.10245 SEMA7A Zornitza Stark Classified gene: SEMA7A as Amber List (moderate evidence)
Mendeliome v0.10245 SEMA7A Zornitza Stark Gene: sema7a has been classified as Amber List (Moderate Evidence).
Mendeliome v0.10244 SEMA7A Paul De Fazio edited their review of gene: SEMA7A: Changed rating: AMBER
Mendeliome v0.10244 SEMA7A Paul De Fazio changed review comment from: Koh et al 2006 (PMID:16372136) identified an association between common polymorphisms and decreased bone mineral density in 560 postmenopausal Korean women.

Zhao et al 2020 (PMID:31650878) identified a heterozygous splice variant at -3 (absent from gnomad) in a young woman with Kallman syndrome. It was inherited from her father, who had retarded pubertal development but a normal sense of smell.

Pan et al 2021 (PMID:34585848) identified a homozygous missense variant (gnomad: 107 hets 0 homs) in a child with progressive familial intrahepatic cholestasis. Mouse knock-ins recapitulated the patient phenotype.

Low evidence for association with disease.; to: Koh et al 2006 (PMID:16372136) identified an association between common polymorphisms and decreased bone mineral density in 560 postmenopausal Korean women.

Zhao et al 2020 (PMID:31650878) identified a heterozygous splice variant at -3 (absent from gnomad) in a young woman with Kallman syndrome. It was inherited from her father, who had retarded pubertal development but a normal sense of smell.

Pan et al 2021 (PMID:34585848) identified a homozygous missense variant (gnomad: 107 hets 0 homs) in a child with progressive familial intrahepatic cholestasis. Homozygous mice recapitulated the patient phenotype.

Rated amber due to 1 patient and mouse model in PMID:34585848.
Mendeliome v0.10244 SEMA7A Paul De Fazio changed review comment from: There is no conclusive evidence of association with monogenic disease for this gene.

Koh et al 2006 (PMID:16372136) identified an association between common polymorphisms and decreased bone mineral density in 560 postmenopausal Korean women.

Zhao et al 2020 (PMID:31650878) identified a heterozygous splice variant at -3 (absent from gnomad) in a young woman with Kallman syndrome. It was inherited from her father, who had retarded pubertal development but a normal sense of smell.

Pan et al 2021 (PMID:34585848) identified a homozygous missense variant (gnomad: 107 hets 0 homs) in a child with progressive familial intrahepatic cholestasis. Mouse knock-ins recapitulated the patient phenotype.; to: Koh et al 2006 (PMID:16372136) identified an association between common polymorphisms and decreased bone mineral density in 560 postmenopausal Korean women.

Zhao et al 2020 (PMID:31650878) identified a heterozygous splice variant at -3 (absent from gnomad) in a young woman with Kallman syndrome. It was inherited from her father, who had retarded pubertal development but a normal sense of smell.

Pan et al 2021 (PMID:34585848) identified a homozygous missense variant (gnomad: 107 hets 0 homs) in a child with progressive familial intrahepatic cholestasis. Mouse knock-ins recapitulated the patient phenotype.

Low evidence for association with disease.
Mendeliome v0.10244 SEMA7A Paul De Fazio reviewed gene: SEMA7A: Rating: RED; Mode of pathogenicity: None; Publications: 16372136, 31650878, 34585848; Phenotypes: Decreased bone mineral density, Kallmann syndrome, progressive familial intrahepatic cholestasis; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal; Current diagnostic: yes
Mendeliome v0.10244 CLMP Zornitza Stark Marked gene: CLMP as ready
Mendeliome v0.10244 CLMP Zornitza Stark Gene: clmp has been classified as Green List (High Evidence).
Mendeliome v0.10244 CLMP Zornitza Stark Phenotypes for gene: CLMP were changed from to Congenital short bowel syndrome , MIM#615237
Mendeliome v0.10243 CLMP Zornitza Stark Publications for gene: CLMP were set to
Mendeliome v0.10242 CLMP Zornitza Stark Mode of inheritance for gene: CLMP was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.10241 CLMP Zornitza Stark reviewed gene: CLMP: Rating: GREEN; Mode of pathogenicity: None; Publications: 22155368; Phenotypes: Congenital short bowel syndrome , MIM#615237; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.10241 ERF Zornitza Stark Marked gene: ERF as ready
Mendeliome v0.10241 ERF Zornitza Stark Gene: erf has been classified as Green List (High Evidence).
Mendeliome v0.10241 ERF Zornitza Stark Phenotypes for gene: ERF were changed from to Craniosynostosis 4, MIM# 600775; Chitayat syndrome, MIM# 617180
Mendeliome v0.10240 ERF Zornitza Stark Publications for gene: ERF were set to
Mendeliome v0.10239 ERF Zornitza Stark Mode of inheritance for gene: ERF was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.10238 ERF Zornitza Stark edited their review of gene: ERF: Changed phenotypes: Craniosynostosis 4, MIM# 600775, Chitayat syndrome, MIM# 617180
Mendeliome v0.10238 ERF Zornitza Stark reviewed gene: ERF: Rating: GREEN; Mode of pathogenicity: None; Publications: 23354439, 26097063, 32370745, 30758909, 27738187; Phenotypes: Craniosynostosis 4, MIM# 600775; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.10238 EOGT Zornitza Stark Marked gene: EOGT as ready
Mendeliome v0.10238 EOGT Zornitza Stark Gene: eogt has been classified as Green List (High Evidence).
Mendeliome v0.10238 EOGT Zornitza Stark Phenotypes for gene: EOGT were changed from to Adams-Oliver syndrome 4, MIM#615297
Mendeliome v0.10237 EOGT Zornitza Stark Publications for gene: EOGT were set to
Mendeliome v0.10236 EOGT Zornitza Stark Mode of inheritance for gene: EOGT was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.10235 EOGT Zornitza Stark reviewed gene: EOGT: Rating: GREEN; Mode of pathogenicity: None; Publications: 23522784, 31368252, 29924900, 31368252; Phenotypes: Adams-Oliver syndrome 4, MIM#615297; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.10235 ADSL Zornitza Stark Marked gene: ADSL as ready
Mendeliome v0.10235 ADSL Zornitza Stark Gene: adsl has been classified as Green List (High Evidence).
Mendeliome v0.10235 ADSL Zornitza Stark Phenotypes for gene: ADSL were changed from to Adenylosuccinase deficiency MIM#103050
Mendeliome v0.10234 ADSL Zornitza Stark Publications for gene: ADSL were set to
Mendeliome v0.10233 ADSL Zornitza Stark Mode of inheritance for gene: ADSL was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.10232 KCND2 Zornitza Stark Marked gene: KCND2 as ready
Mendeliome v0.10232 KCND2 Zornitza Stark Gene: kcnd2 has been classified as Green List (High Evidence).
Mendeliome v0.10232 KCND2 Zornitza Stark Phenotypes for gene: KCND2 were changed from global developmental delay, HP:0001263; seizure, HP:0001250 to Neurodevelopmental disorder MONDO:0700092; global developmental delay, HP:0001263; seizure, HP:0001250
Mendeliome v0.10231 KCND2 Zornitza Stark Classified gene: KCND2 as Green List (high evidence)
Mendeliome v0.10231 KCND2 Zornitza Stark Gene: kcnd2 has been classified as Green List (High Evidence).
Mendeliome v0.10230 EIF4A3 Zornitza Stark Tag STR tag was added to gene: EIF4A3.
Mendeliome v0.10230 EYA1 Zornitza Stark Marked gene: EYA1 as ready
Mendeliome v0.10230 EYA1 Zornitza Stark Gene: eya1 has been classified as Green List (High Evidence).
Mendeliome v0.10230 EYA1 Zornitza Stark Phenotypes for gene: EYA1 were changed from to Anterior segment anomalies with or without cataract MIM#602588; Branchiootic syndrome 1 MIM#602588; Branchiootorenal syndrome 1, with or without cataracts MIM#113650
Mendeliome v0.10229 EYA1 Zornitza Stark Publications for gene: EYA1 were set to
Mendeliome v0.10228 EYA1 Zornitza Stark Mode of inheritance for gene: EYA1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.10227 EYA1 Zornitza Stark reviewed gene: EYA1: Rating: GREEN; Mode of pathogenicity: None; Publications: 9359046, 13269867; Phenotypes: Anterior segment anomalies with or without cataract MIM#602588, Branchiootic syndrome 1 MIM#602588, Branchiootorenal syndrome 1, with or without cataracts MIM#113650; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.10227 FBXL4 Zornitza Stark Marked gene: FBXL4 as ready
Mendeliome v0.10227 FBXL4 Zornitza Stark Gene: fbxl4 has been classified as Green List (High Evidence).
Mendeliome v0.10227 FBXL4 Zornitza Stark Phenotypes for gene: FBXL4 were changed from to Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type) MIM#615471
Mendeliome v0.10226 FBXL4 Zornitza Stark Publications for gene: FBXL4 were set to
Mendeliome v0.10225 FBXL4 Zornitza Stark Mode of inheritance for gene: FBXL4 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.10224 GALE Zornitza Stark Marked gene: GALE as ready
Mendeliome v0.10224 GALE Zornitza Stark Gene: gale has been classified as Green List (High Evidence).
Mendeliome v0.10224 GALK1 Zornitza Stark Marked gene: GALK1 as ready
Mendeliome v0.10224 GALK1 Zornitza Stark Gene: galk1 has been classified as Green List (High Evidence).
Mendeliome v0.10224 GALE Zornitza Stark Phenotypes for gene: GALE were changed from to Galactose epimerase deficiency MIM#230350; Disorders of galactose metabolism
Mendeliome v0.10223 FOXRED1 Zornitza Stark Marked gene: FOXRED1 as ready
Mendeliome v0.10223 FOXRED1 Zornitza Stark Gene: foxred1 has been classified as Green List (High Evidence).
Mendeliome v0.10223 GALE Zornitza Stark Publications for gene: GALE were set to
Mendeliome v0.10222 FOXRED1 Zornitza Stark Phenotypes for gene: FOXRED1 were changed from to Mitochondrial complex I deficiency, nuclear type 19 MIM#618241
Mendeliome v0.10221 FOXRED1 Zornitza Stark Publications for gene: FOXRED1 were set to
Mendeliome v0.10220 FOXRED1 Zornitza Stark Mode of inheritance for gene: FOXRED1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.10219 FREM2 Zornitza Stark Marked gene: FREM2 as ready
Mendeliome v0.10219 FREM2 Zornitza Stark Gene: frem2 has been classified as Green List (High Evidence).
Mendeliome v0.10219 FREM2 Zornitza Stark Phenotypes for gene: FREM2 were changed from to Cryptophthalmos, unilateral or bilateral, isolated MIM#123570; Fraser syndrome 2 MIM#617666
Mendeliome v0.10218 FREM2 Zornitza Stark Publications for gene: FREM2 were set to
Mendeliome v0.10217 FREM2 Zornitza Stark Mode of inheritance for gene: FREM2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.10216 GALE Zornitza Stark Mode of inheritance for gene: GALE was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.10215 GALK1 Zornitza Stark Phenotypes for gene: GALK1 were changed from to Galactokinase deficiency with cataracts MIM#230200; Disorders of galactose metabolism
Mendeliome v0.10214 GALK1 Zornitza Stark Publications for gene: GALK1 were set to
Mendeliome v0.10213 ERCC6 Belinda Chong reviewed gene: ERCC6: Rating: GREEN; Mode of pathogenicity: None; Publications: 20301516 20456449 9443879 8566949; Phenotypes: Cockayne syndrome, type B, MIM#133540, Cerebrooculofacioskeletal syndrome 1, MIM#214150, De Sanctis-Cacchione syndrome, MIM#278800; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Mendeliome v0.10213 GALK1 Zornitza Stark Mode of inheritance for gene: GALK1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.10212 GATA4 Zornitza Stark Marked gene: GATA4 as ready
Mendeliome v0.10212 GATA4 Zornitza Stark Gene: gata4 has been classified as Green List (High Evidence).
Mendeliome v0.10212 GATA4 Zornitza Stark Phenotypes for gene: GATA4 were changed from to Atrial septal defect 2 MIM#607941; Atrioventricular septal defect 4 MIM#614430; Ventricular septal defect 1 MIM#614429
Mendeliome v0.10211 GATA4 Zornitza Stark Publications for gene: GATA4 were set to
Mendeliome v0.10210 GATA4 Zornitza Stark Mode of inheritance for gene: GATA4 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.10209 Zornitza Stark removed gene:NPC1 from the panel
Mendeliome v0.10208 COMT Zornitza Stark Marked gene: COMT as ready
Mendeliome v0.10208 COMT Zornitza Stark Gene: comt has been classified as Red List (Low Evidence).
Mendeliome v0.10208 COMT Zornitza Stark Classified gene: COMT as Red List (low evidence)
Mendeliome v0.10208 COMT Zornitza Stark Gene: comt has been classified as Red List (Low Evidence).
Mendeliome v0.10207 FAT4 Ain Roesley reviewed gene: FAT4: Rating: GREEN; Mode of pathogenicity: None; Publications: 29681106; Phenotypes: Hennekam lymphangiectasia-lymphedema syndrome 2 MIM#616006, Van Maldergem syndrome 2 MIM#615546; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Mendeliome v0.10207 FBXL4 Ain Roesley reviewed gene: FBXL4: Rating: GREEN; Mode of pathogenicity: None; Publications: 28940506; Phenotypes: Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type) MIM#615471; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Mendeliome v0.10207 UBE4A Zornitza Stark Phenotypes for gene: UBE4A were changed from Intellectual disability and global developmental delay to Neurodevelopmental disorder with hypotonia and gross motor and seech delay, MIM# 619639
Mendeliome v0.10206 UBE4A Zornitza Stark edited their review of gene: UBE4A: Changed phenotypes: Neurodevelopmental disorder with hypotonia and gross motor and seech delay, MIM# 619639
Mendeliome v0.10206 FOXRED1 Ain Roesley reviewed gene: FOXRED1: Rating: GREEN; Mode of pathogenicity: None; Publications: 33613441; Phenotypes: Mitochondrial complex I deficiency, nuclear type 19 MIM#618241; Mode of inheritance: None; Current diagnostic: yes
Mendeliome v0.10206 FREM2 Ain Roesley reviewed gene: FREM2: Rating: GREEN; Mode of pathogenicity: None; Publications: 15838507, 18203166, 29688405, 33082983; Phenotypes: Cryptophthalmos, unilateral or bilateral, isolated MIM#123570, Fraser syndrome 2 MIM#617666; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Mendeliome v0.10206 ZNFX1 Zornitza Stark Phenotypes for gene: ZNFX1 were changed from Multisystem inflammation; susceptibility to viral infections; monocytosis; susceptibility to mycobacterial infection to Immunodeficiency 91 and hyperinflammation, MIM# 619644
Mendeliome v0.10205 ZNFX1 Zornitza Stark edited their review of gene: ZNFX1: Changed phenotypes: Immunodeficiency 91 and hyperinflammation, MIM# 619644
Mendeliome v0.10205 SMAD2 Zornitza Stark Phenotypes for gene: SMAD2 were changed from Aortic and arterial aneurysmal disease; connective tissue disease; congenital heart disease to Loeys-Dietz syndrome 6, MIM# 619656; Congenital heart defects, multiple types, 8, with or without heterotaxy, MIM# 619657
Mendeliome v0.10204 SMAD2 Zornitza Stark reviewed gene: SMAD2: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Loeys-Dietz syndrome 6, MIM# 619656, Congenital heart defects, multiple types, 8, with or without heterotaxy, MIM# 619657; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.10204 GATA4 Ain Roesley reviewed gene: GATA4: Rating: GREEN; Mode of pathogenicity: None; Publications: 12845333, 18055909, 15689439, 33413087, 30455927; Phenotypes: Atrial septal defect 2 MIM#607941, Atrioventricular septal defect 4 MIM#614430, Ventricular septal defect 1 MIM#614429; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes
Mendeliome v0.10204 NPC1 Daniel Flanagan gene: NPC1 was added
gene: NPC1 was added to Mendeliome. Sources: Literature
Mode of inheritance for gene: NPC1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: NPC1 were set to 12408188; 9211849
Phenotypes for gene: NPC1 were set to Niemann-Pick disease, type C1/ type D (MIM#257220)
Review for gene: NPC1 was set to GREEN
Added comment: Biallelic NPC1 variants cause Niemann-Pick disease, type C1/ type D. Prenatal manifestation: hydrops fetalis.
Sources: Literature
Mendeliome v0.10204 COMT Ain Roesley reviewed gene: COMT: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None; Current diagnostic: yes
Mendeliome v0.10204 KCND2 Eleanor Williams gene: KCND2 was added
gene: KCND2 was added to Mendeliome. Sources: Literature
Mode of inheritance for gene: KCND2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: KCND2 were set to 24501278; 16934482; 29581270; 34245260
Phenotypes for gene: KCND2 were set to global developmental delay, HP:0001263; seizure, HP:0001250
Mode of pathogenicity for gene: KCND2 was set to Other
Review for gene: KCND2 was set to GREEN
Added comment: 6 new unrelated cases with developmental delay reported in PMID: 34245260 (Zhang et al 2021), 3 of whom had seizures. All had heterozygous missense variants of KCND2 in sites known to be critical for channel gating (E323K, P403A, two individuals, V404L, two individuals and V404M). Functional studies suggest that these missense changes cause both a partial loss-of-function (LOF) and gain-of-function (GOF). The V404 change appears to increase epileptic seizure susceptibility with the 3 patients with a V404 change showing this phenotype.

PMID:24501278 - Lee et al, 2014 - reports pair of monozygotic twin boys with infantile onset severe refractory epilepsy and autism. A de novo heterozygous missense variant was identified by WES - V404M.

PMID: 29581270 - Lin et al, 2018 - performed functional work that shows V404M enhances inactivation of channels that have not yet opened and dramatically impairs the inactivation of channels that have opened.

PMID:16934482 - Singh et al, 2006 - reports a patient with cognative impairment who also went on to have seizures starting from age 13 with a 5 bp deletion in KCND2 leading to premature stop codon. The proband's asymptomatic father also shared this variant.
Sources: Literature
Mendeliome v0.10204 EIF2B2 Zornitza Stark Marked gene: EIF2B2 as ready
Mendeliome v0.10204 EIF2B2 Zornitza Stark Gene: eif2b2 has been classified as Green List (High Evidence).
Mendeliome v0.10204 EIF2B2 Zornitza Stark Phenotypes for gene: EIF2B2 were changed from to Leukoencephalopathy with vanishing white matter, MIM#603896; Ovarioleukodystrophy, MIM# 603896
Mendeliome v0.10203 EIF2B2 Zornitza Stark Publications for gene: EIF2B2 were set to
Mendeliome v0.10202 EIF2B2 Zornitza Stark Mode of inheritance for gene: EIF2B2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.10201 EIF2B2 Zornitza Stark changed review comment from: Multiple families reported, marked phenotypic variability.; to: Multiple families reported, marked phenotypic variability, age of onset from infancy to adulthood.
Mendeliome v0.10201 EIF2B2 Zornitza Stark reviewed gene: EIF2B2: Rating: GREEN; Mode of pathogenicity: None; Publications: 21484434, 14566705, 28041799, 30266093, 28597716; Phenotypes: Leukoencephalopathy with vanishing white matter, MIM#603896, Ovarioleukodystrophy, MIM# 603896; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.10201 CHRNB2 Zornitza Stark Marked gene: CHRNB2 as ready
Mendeliome v0.10201 CHRNB2 Zornitza Stark Gene: chrnb2 has been classified as Green List (High Evidence).
Mendeliome v0.10201 CHRNB2 Zornitza Stark Phenotypes for gene: CHRNB2 were changed from to Epilepsy, nocturnal frontal lobe, 3, MIM# 605375
Mendeliome v0.10200 CHRNB2 Zornitza Stark Publications for gene: CHRNB2 were set to
Mendeliome v0.10199 CHRNB2 Zornitza Stark Mode of inheritance for gene: CHRNB2 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.10198 CHRNB2 Zornitza Stark reviewed gene: CHRNB2: Rating: GREEN; Mode of pathogenicity: None; Publications: 11062464, 11104662, 19153075, 32536355, 25770198, 23032131; Phenotypes: Epilepsy, nocturnal frontal lobe, 3, MIM# 605375; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.10198 CHRNB1 Zornitza Stark Marked gene: CHRNB1 as ready
Mendeliome v0.10198 CHRNB1 Zornitza Stark Gene: chrnb1 has been classified as Green List (High Evidence).
Mendeliome v0.10198 CHRNB1 Zornitza Stark Phenotypes for gene: CHRNB1 were changed from to Myasthenic syndrome, slow-channel congenital, 601462 Myasthenic syndrome, congenital, 2A, slow-channel, 616313; Myasthenic syndrome, congenital, 2C, associated with acetylcholine receptor deficiency, 616314
Mendeliome v0.10197 CHRNB1 Zornitza Stark Publications for gene: CHRNB1 were set to
Mendeliome v0.10196 CHRNB1 Zornitza Stark Mode of inheritance for gene: CHRNB1 was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Mendeliome v0.10195 CHRNB1 Zornitza Stark reviewed gene: CHRNB1: Rating: GREEN; Mode of pathogenicity: None; Publications: 8872460, 8651643, 27375219, 32504635, 10562302; Phenotypes: Myasthenic syndrome, slow-channel congenital, 601462 Myasthenic syndrome, congenital, 2A, slow-channel, 616313, Myasthenic syndrome, congenital, 2C, associated with acetylcholine receptor deficiency, 616314; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Mendeliome v0.10195 CHRNA3 Zornitza Stark Phenotypes for gene: CHRNA3 were changed from CAKUT; dysautonomia to Bladder dysfunction, autonomic, with impaired pupillary reflex and secondary CAKUT, MIM# 191800
Mendeliome v0.10194 CHRNA3 Zornitza Stark changed review comment from: Five individuals from three unrelated families.; to: Five individuals from three unrelated families.

Onset is in utero or early childhood.

Affected individuals have impaired neuronal bladder and ureteral innervation causing coordination defects that result in secondary structural defects of the renal system, including hydronephrosis, vesicoureteral reflux (VUR), and small kidneys, that may result in chronic kidney disease as well as recurrent urinary tract infections (UTIs). Surgical treatment of VUR is not effective. Most individuals also have additional autonomic features, most commonly impaired pupillary reflex and sometimes orthostatic hypotension.
Mendeliome v0.10194 CHD8 Zornitza Stark Marked gene: CHD8 as ready
Mendeliome v0.10194 CHD8 Zornitza Stark Gene: chd8 has been classified as Green List (High Evidence).
Mendeliome v0.10194 CHD8 Zornitza Stark Phenotypes for gene: CHD8 were changed from to {Autism, susceptibility to, 18} 615032; CHD8-related neurodevelopmental syndrome
Mendeliome v0.10193 CHD8 Zornitza Stark Publications for gene: CHD8 were set to
Mendeliome v0.10192 CHD8 Zornitza Stark Mode of inheritance for gene: CHD8 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.10191 CHD8 Zornitza Stark reviewed gene: CHD8: Rating: GREEN; Mode of pathogenicity: None; Publications: 31980904; Phenotypes: {Autism, susceptibility to, 18} 615032, CHD8-related neurodevelopmental syndrome; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.10191 CCDC22 Zornitza Stark Marked gene: CCDC22 as ready
Mendeliome v0.10191 CCDC22 Zornitza Stark Gene: ccdc22 has been classified as Green List (High Evidence).
Mendeliome v0.10191 CCDC22 Zornitza Stark Phenotypes for gene: CCDC22 were changed from to Ritscher-Schinzel syndrome 2, MIM# 300963
Mendeliome v0.10190 CCDC22 Zornitza Stark Publications for gene: CCDC22 were set to
Mendeliome v0.10189 CCDC22 Zornitza Stark Mode of inheritance for gene: CCDC22 was changed from Unknown to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Mendeliome v0.10188 CCDC22 Zornitza Stark reviewed gene: CCDC22: Rating: GREEN; Mode of pathogenicity: None; Publications: 21826058, 24916641, 34020006, 33059814, 31971710; Phenotypes: Ritscher-Schinzel syndrome 2, MIM# 300963; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Mendeliome v0.10188 CFAP65 Zornitza Stark Publications for gene: CFAP65 were set to 31501240; 31413122
Mendeliome v0.10187 RNF212 Zornitza Stark Marked gene: RNF212 as ready
Mendeliome v0.10187 RNF212 Zornitza Stark Gene: rnf212 has been classified as Red List (Low Evidence).
Mendeliome v0.10187 RNF212 Zornitza Stark Phenotypes for gene: RNF212 were changed from to Recombination rate QTL 1, MIM#612042
Mendeliome v0.10186 RNF212 Zornitza Stark Publications for gene: RNF212 were set to
Mendeliome v0.10185 RNF212 Zornitza Stark Classified gene: RNF212 as Red List (low evidence)
Mendeliome v0.10185 RNF212 Zornitza Stark Gene: rnf212 has been classified as Red List (Low Evidence).
Mendeliome v0.10184 ADCY5 Zornitza Stark Phenotypes for gene: ADCY5 were changed from Dyskinesia, familial, with facial myokymia, MIM# 606703; MONDO:0011707 to Dyskinesia, familial, with facial myokymia, MIM# 606703; MONDO:0011707; Hyperkinetic movement disorder with dyskinesia, myoclonus, chorea, and dystonia-2 (HYDMCD2), MIM#619647; Neurodevelopmental disorder with hyperkinetic movements and dyskinesia (NEDHYD), MIM#619651
Mendeliome v0.10183 ADCY5 Zornitza Stark Publications for gene: ADCY5 were set to 22782511; 24700542; 33051786; 32647899; 33704598
Mendeliome v0.10182 ADCY5 Zornitza Stark Mode of inheritance for gene: ADCY5 was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Mendeliome v0.10181 ADCY5 Zornitza Stark edited their review of gene: ADCY5: Added comment: Neurodevelopmental disorder with hyperkinetic movements and dyskinesia (NEDHYD) is an autosomal recessive complex neurologic disorder characterized by severe global developmental delay with axial hypotonia, impaired intellectual development, poor overall growth, and abnormal involuntary hyperkinetic movements, including dystonia, myoclonus, spasticity, and orofacial dyskinesia. It is the most severe manifestation of ADCY5-related dyskinetic disorders. Five individuals from 2 families reported.

Autosomal recessive hyperkinetic movement disorder with dyskinesia, myoclonus, chorea, and dystonia-2 (HYDMCD2) is characterized by the onset of abnormal involuntary movements, mainly affecting the limbs and causing walking difficulties, in the first decade. The severity is variable; some patients have orofacial dyskinesia, resulting in speech difficulties, or develop neuropsychiatric features, including anxiety and social withdrawal. Cardiomyopathy has rarely been described and may be a manifestation of the disorder. Eight individuals from 2 families reported.; Changed publications: 22782511, 24700542, 33051786, 32647899, 33704598, 34631954, 28971144, 30975617; Changed phenotypes: Dyskinesia, familial, with facial myokymia, MIM# 606703, MONDO:0011707, Hyperkinetic movement disorder with dyskinesia, myoclonus, chorea, and dystonia-2 (HYDMCD2), MIM#619647, Neurodevelopmental disorder with hyperkinetic movements and dyskinesia (NEDHYD), MIM#619651; Changed mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Mendeliome v0.10181 CFAP65 Eleanor Williams reviewed gene: CFAP65: Rating: ; Mode of pathogenicity: None; Publications: 34231842; Phenotypes: ; Mode of inheritance: None
Mendeliome v0.10181 CANT1 Zornitza Stark Marked gene: CANT1 as ready
Mendeliome v0.10181 CANT1 Zornitza Stark Gene: cant1 has been classified as Green List (High Evidence).
Mendeliome v0.10181 CANT1 Zornitza Stark Phenotypes for gene: CANT1 were changed from to Desbuquois dysplasia 1 MIM#251450; Epiphyseal dysplasia, multiple, 7, MIM# 617719
Mendeliome v0.10180 CANT1 Zornitza Stark Publications for gene: CANT1 were set to 19853239; 21037275; 28742282
Mendeliome v0.10179 CANT1 Zornitza Stark Publications for gene: CANT1 were set to
Mendeliome v0.10178 CANT1 Zornitza Stark Mode of inheritance for gene: CANT1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.10177 CANT1 Zornitza Stark reviewed gene: CANT1: Rating: GREEN; Mode of pathogenicity: None; Publications: 19853239, 21037275, 28742282; Phenotypes: Desbuquois dysplasia 1 MIM#251450, Epiphyseal dysplasia, multiple, 7, MIM# 617719; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.10177 CAMK2A Zornitza Stark Marked gene: CAMK2A as ready
Mendeliome v0.10177 CAMK2A Zornitza Stark Gene: camk2a has been classified as Green List (High Evidence).
Mendeliome v0.10177 CAMK2A Zornitza Stark Phenotypes for gene: CAMK2A were changed from to Mental retardation, autosomal recessive 63 MIM#618095; Mental retardation, autosomal dominant 53 MIM#617798
Mendeliome v0.10176 CAMK2A Zornitza Stark Publications for gene: CAMK2A were set to
Mendeliome v0.10175 CAMK2A Zornitza Stark Mode of inheritance for gene: CAMK2A was changed from Unknown to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Mendeliome v0.10174 RNF212 Paul De Fazio reviewed gene: RNF212: Rating: RED; Mode of pathogenicity: None; Publications: 18239089, 29277047; Phenotypes: Recombination rate QTL 1 MIM#612042; Mode of inheritance: Unknown; Current diagnostic: yes
Mendeliome v0.10174 CAMK2A Zornitza Stark reviewed gene: CAMK2A: Rating: GREEN; Mode of pathogenicity: None; Publications: 32600977, 29784083, 29560374; Phenotypes: Mental retardation, autosomal recessive 63 MIM#618095, Mental retardation, autosomal dominant 53 MIM#617798; Mode of inheritance: BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Mendeliome v0.10174 AGRP Zornitza Stark Marked gene: AGRP as ready
Mendeliome v0.10174 AGRP Zornitza Stark Gene: agrp has been classified as Red List (Low Evidence).
Mendeliome v0.10174 AGRP Zornitza Stark Phenotypes for gene: AGRP were changed from to {Leanness, inherited} 601665; {Obesity, late-onset} 601665
Mendeliome v0.10173 AGRP Zornitza Stark Classified gene: AGRP as Red List (low evidence)
Mendeliome v0.10173 AGRP Zornitza Stark Gene: agrp has been classified as Red List (Low Evidence).
Mendeliome v0.10172 AGRP Zornitza Stark reviewed gene: AGRP: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: {Leanness, inherited} 601665, {Obesity, late-onset} 601665; Mode of inheritance: None
Mendeliome v0.10172 C1QBP Zornitza Stark Marked gene: C1QBP as ready
Mendeliome v0.10172 C1QBP Zornitza Stark Gene: c1qbp has been classified as Green List (High Evidence).
Mendeliome v0.10172 C1QBP Zornitza Stark Phenotypes for gene: C1QBP were changed from to Combined oxidative phosphorylation deficiency 33, MIM# 617713
Mendeliome v0.10171 C1QBP Zornitza Stark Publications for gene: C1QBP were set to
Mendeliome v0.10170 C1QBP Zornitza Stark Mode of inheritance for gene: C1QBP was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.10169 C1QBP Zornitza Stark reviewed gene: C1QBP: Rating: GREEN; Mode of pathogenicity: None; Publications: 28942965; Phenotypes: Combined oxidative phosphorylation deficiency 33, MIM# 617713; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.10169 BOLA3 Zornitza Stark Marked gene: BOLA3 as ready
Mendeliome v0.10169 BOLA3 Zornitza Stark Gene: bola3 has been classified as Green List (High Evidence).
Mendeliome v0.10169 BOLA3 Zornitza Stark Phenotypes for gene: BOLA3 were changed from to Multiple mitochondrial dysfunctions syndrome 2 with hyperglycinemia, MIM# 614299
Mendeliome v0.10168 BOLA3 Zornitza Stark Publications for gene: BOLA3 were set to
Mendeliome v0.10167 BOLA3 Zornitza Stark Mode of inheritance for gene: BOLA3 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.10166 BOLA3 Zornitza Stark reviewed gene: BOLA3: Rating: GREEN; Mode of pathogenicity: None; Publications: 30302924, 29654549, 30302924; Phenotypes: Multiple mitochondrial dysfunctions syndrome 2 with hyperglycinemia, MIM# 614299; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.10166 B9D2 Zornitza Stark Marked gene: B9D2 as ready
Mendeliome v0.10166 B9D2 Zornitza Stark Gene: b9d2 has been classified as Green List (High Evidence).
Mendeliome v0.10166 B9D2 Zornitza Stark Phenotypes for gene: B9D2 were changed from to Joubert syndrome 34, MIM#614175; Meckel syndrome 10, MIM#614175
Mendeliome v0.10165 B9D2 Zornitza Stark Publications for gene: B9D2 were set to
Mendeliome v0.10164 B9D2 Zornitza Stark Mode of inheritance for gene: B9D2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.10163 WLS Zornitza Stark Phenotypes for gene: WLS were changed from Syndromic structural birth defects to Zaki syndrome, MIM#619648
Mendeliome v0.10162 WLS Zornitza Stark reviewed gene: WLS: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Zaki syndrome, MIM#619648; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.10162 EBP Zornitza Stark Marked gene: EBP as ready
Mendeliome v0.10162 EBP Zornitza Stark Gene: ebp has been classified as Green List (High Evidence).
Mendeliome v0.10162 EBP Zornitza Stark Phenotypes for gene: EBP were changed from to Chondrodysplasia punctata, X-linked dominant MIM#302960; Conradi-Hunermann syndrome; MEND syndrome, MIM#300960
Mendeliome v0.10161 EBP Zornitza Stark Publications for gene: EBP were set to
Mendeliome v0.10160 EBP Zornitza Stark Mode of inheritance for gene: EBP was changed from Unknown to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Mendeliome v0.10159 EBP Zornitza Stark edited their review of gene: EBP: Changed publications: 10391218, 10391219
Mendeliome v0.10159 EBP Zornitza Stark reviewed gene: EBP: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Chondrodysplasia punctata, X-linked dominant MIM#302960, Conradi-Hunermann syndrome, MEND syndrome, MIM#300960; Mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Mendeliome v0.10159 DYM Zornitza Stark Marked gene: DYM as ready
Mendeliome v0.10159 DYM Zornitza Stark Gene: dym has been classified as Green List (High Evidence).
Mendeliome v0.10159 DYM Zornitza Stark Phenotypes for gene: DYM were changed from to Smith-McCort dysplasia , MM#607326; Dyggve-Melchior-Clausen disease, MIM#223800
Mendeliome v0.10158 DYM Zornitza Stark Publications for gene: DYM were set to
Mendeliome v0.10157 DYM Zornitza Stark Mode of inheritance for gene: DYM was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.10156 DYM Zornitza Stark reviewed gene: DYM: Rating: GREEN; Mode of pathogenicity: None; Publications: 12491225, 12554689, 16470731, 19005420; Phenotypes: Smith-McCort dysplasia , MM#607326, Dyggve-Melchior-Clausen disease, MIM#223800; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.10156 DOCK6 Zornitza Stark Marked gene: DOCK6 as ready
Mendeliome v0.10156 DOCK6 Zornitza Stark Gene: dock6 has been classified as Green List (High Evidence).
Mendeliome v0.10156 DOCK6 Zornitza Stark Phenotypes for gene: DOCK6 were changed from to Adams-Oliver syndrome 2, MIM#614219
Mendeliome v0.10155 DOCK6 Zornitza Stark Publications for gene: DOCK6 were set to
Mendeliome v0.10154 DOCK6 Zornitza Stark Mode of inheritance for gene: DOCK6 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.10153 DOCK6 Zornitza Stark reviewed gene: DOCK6: Rating: GREEN; Mode of pathogenicity: None; Publications: 21820096, 23522784, 25132448, 25824905; Phenotypes: Adams-Oliver syndrome 2, MIM#614219; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.10153 DNMT3A Zornitza Stark Phenotypes for gene: DNMT3A were changed from Tatton-Brown-Rahman syndrome, OMIM# 615879; primordial dwarfism with intellectual disability and microcephaly to Tatton-Brown-Rahman syndrome, MIM# 615879; Heyn-Sproul-Jackson syndrome, MIM# 618724
Mendeliome v0.10152 DNMT3A Zornitza Stark edited their review of gene: DNMT3A: Changed phenotypes: Tatton-Brown-Rahman syndrome, MIM# 615879, Heyn-Sproul-Jackson syndrome, MIM# 618724
Mendeliome v0.10152 DNAH9 Zornitza Stark Marked gene: DNAH9 as ready
Mendeliome v0.10152 DNAH9 Zornitza Stark Gene: dnah9 has been classified as Green List (High Evidence).
Mendeliome v0.10152 DNAH9 Zornitza Stark Phenotypes for gene: DNAH9 were changed from to Ciliary dyskinesia, primary, 40, MIM# 618300
Mendeliome v0.10151 DNAH9 Zornitza Stark Publications for gene: DNAH9 were set to
Mendeliome v0.10150 DNAH9 Zornitza Stark Mode of inheritance for gene: DNAH9 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.10149 DNAH9 Zornitza Stark reviewed gene: DNAH9: Rating: GREEN; Mode of pathogenicity: None; Publications: 30471717, 30471718; Phenotypes: Ciliary dyskinesia, primary, 40, MIM# 618300; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.10149 NEK10 Zornitza Stark Phenotypes for gene: NEK10 were changed from Primary ciliary dyskinesia; bronchiectasis to Ciliary dyskinesia, primary, 44, MIM# 618781
Mendeliome v0.10148 NEK10 Zornitza Stark edited their review of gene: NEK10: Changed phenotypes: Ciliary dyskinesia, primary, 44, MIM# 618781
Mendeliome v0.10148 NFIX Zornitza Stark Marked gene: NFIX as ready
Mendeliome v0.10148 NFIX Zornitza Stark Gene: nfix has been classified as Green List (High Evidence).
Mendeliome v0.10148 NFIX Zornitza Stark Phenotypes for gene: NFIX were changed from to Sotos syndrome 2 (MIM#614753); Marshall-Smith syndrome, MIM# 602535
Mendeliome v0.10147 NFIX Zornitza Stark Publications for gene: NFIX were set to
Mendeliome v0.10146 NFIX Zornitza Stark Mode of inheritance for gene: NFIX was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.10145 NFIX Zornitza Stark reviewed gene: NFIX: Rating: GREEN; Mode of pathogenicity: None; Publications: 33034087, 29897170, 30548146, 25118028; Phenotypes: Sotos syndrome 2 (MIM#614753), Marshall-Smith syndrome, MIM# 602535; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.10145 GFM1 Zornitza Stark Marked gene: GFM1 as ready
Mendeliome v0.10145 GFM1 Zornitza Stark Gene: gfm1 has been classified as Green List (High Evidence).
Mendeliome v0.10145 GFM1 Zornitza Stark Phenotypes for gene: GFM1 were changed from to Combined oxidative phosphorylation deficiency 1 MIM#609060
Mendeliome v0.10144 GFM1 Zornitza Stark Publications for gene: GFM1 were set to
Mendeliome v0.10143 GFM1 Zornitza Stark Mode of inheritance for gene: GFM1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.10142 GJA3 Zornitza Stark Marked gene: GJA3 as ready
Mendeliome v0.10142 GJA3 Zornitza Stark Gene: gja3 has been classified as Green List (High Evidence).
Mendeliome v0.10142 GJA3 Zornitza Stark Phenotypes for gene: GJA3 were changed from to Cataract 14, multiple types MIM#601885
Mendeliome v0.10141 GJA3 Zornitza Stark Publications for gene: GJA3 were set to
Mendeliome v0.10140 GJA3 Zornitza Stark Mode of inheritance for gene: GJA3 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.10139 NECTIN4 Zornitza Stark Marked gene: NECTIN4 as ready
Mendeliome v0.10139 NECTIN4 Zornitza Stark Gene: nectin4 has been classified as Green List (High Evidence).
Mendeliome v0.10139 NECTIN4 Zornitza Stark Phenotypes for gene: NECTIN4 were changed from to Ectodermal dysplasia-syndactyly syndrome 1 (MIM#613573)
Mendeliome v0.10138 NECTIN4 Zornitza Stark Publications for gene: NECTIN4 were set to
Mendeliome v0.10137 NECTIN4 Zornitza Stark Mode of inheritance for gene: NECTIN4 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.10136 NECTIN4 Zornitza Stark reviewed gene: NECTIN4: Rating: GREEN; Mode of pathogenicity: None; Publications: 24577405, 20691405, 25529316; Phenotypes: Ectodermal dysplasia-syndactyly syndrome 1 (MIM#613573); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.10136 GJC2 Zornitza Stark reviewed gene: GJC2: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Mendeliome v0.10136 GJC2 Zornitza Stark Marked gene: GJC2 as ready
Mendeliome v0.10136 GJC2 Zornitza Stark Gene: gjc2 has been classified as Green List (High Evidence).
Mendeliome v0.10136 GJC2 Zornitza Stark Phenotypes for gene: GJC2 were changed from to Spastic paraplegia 44, autosomal recessive MIM#613206; Leukodystrophy, hypomyelinating, 2 MIM#608804; Lymphatic malformation 3 MIM#613480
Mendeliome v0.10135 GJC2 Zornitza Stark Publications for gene: GJC2 were set to
Mendeliome v0.10134 GJC2 Zornitza Stark Mode of inheritance for gene: GJC2 was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Mendeliome v0.10133 EPHB4 Zornitza Stark Marked gene: EPHB4 as ready
Mendeliome v0.10133 EPHB4 Zornitza Stark Gene: ephb4 has been classified as Green List (High Evidence).
Mendeliome v0.10133 EPHB4 Zornitza Stark Phenotypes for gene: EPHB4 were changed from to Capillary malformation-arteriovenous malformation 2 (MIM#618196), AD; Lymphatic malformation 7 (MIM#617300), AD
Mendeliome v0.10132 EPHB4 Zornitza Stark Publications for gene: EPHB4 were set to
Mendeliome v0.10131 EPHB4 Zornitza Stark Mode of inheritance for gene: EPHB4 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.10130 EPHB4 Zornitza Stark reviewed gene: EPHB4: Rating: GREEN; Mode of pathogenicity: None; Publications: 27400125, 28687708, 29444212, 29905864, 30578106, 30819650; Phenotypes: Capillary malformation-arteriovenous malformation 2 (MIM#618196), AD, Lymphatic malformation 7 (MIM#617300), AD; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.10130 WNT4 Zornitza Stark Marked gene: WNT4 as ready
Mendeliome v0.10130 WNT4 Zornitza Stark Gene: wnt4 has been classified as Amber List (Moderate Evidence).
Mendeliome v0.10130 WNT4 Zornitza Stark Phenotypes for gene: WNT4 were changed from to Mullerian aplasia and hyperandrogenism (MIM#158330); SERKAL syndrome, OMIM #611812
Mendeliome v0.10129 WNT4 Zornitza Stark Publications for gene: WNT4 were set to
Mendeliome v0.10128 WNT4 Zornitza Stark Mode of inheritance for gene: WNT4 was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Mendeliome v0.10127 WNT4 Zornitza Stark Classified gene: WNT4 as Amber List (moderate evidence)
Mendeliome v0.10127 WNT4 Zornitza Stark Gene: wnt4 has been classified as Amber List (Moderate Evidence).
Mendeliome v0.10126 WNT4 Zornitza Stark reviewed gene: WNT4: Rating: AMBER; Mode of pathogenicity: None; Publications: 22503279, 21377155, 16959810, 18179883, 15317892, 18182450; Phenotypes: Mullerian aplasia and hyperandrogenism (MIM#158330), SERKAL syndrome, OMIM #611812; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Mendeliome v0.10126 WWOX Zornitza Stark Marked gene: WWOX as ready
Mendeliome v0.10126 WWOX Zornitza Stark Gene: wwox has been classified as Green List (High Evidence).
Mendeliome v0.10126 WWOX Zornitza Stark Phenotypes for gene: WWOX were changed from to Spinocerebellar ataxia, autosomal recessive 12, MIM# 614322; Developmental and epileptic encephalopathy 28, MIM# 616211
Mendeliome v0.10125 WWOX Zornitza Stark Publications for gene: WWOX were set to
Mendeliome v0.10124 WWOX Zornitza Stark Mode of inheritance for gene: WWOX was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.10123 WWOX Zornitza Stark reviewed gene: WWOX: Rating: GREEN; Mode of pathogenicity: None; Publications: 24456803, 25411445, 32051108, 32037574, 24369382, 34831305, 33916893; Phenotypes: Spinocerebellar ataxia, autosomal recessive 12, MIM# 614322, Developmental and epileptic encephalopathy 28, MIM# 616211; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.10123 ZNF750 Zornitza Stark Marked gene: ZNF750 as ready
Mendeliome v0.10123 ZNF750 Zornitza Stark Gene: znf750 has been classified as Red List (Low Evidence).
Mendeliome v0.10123 ZNF750 Zornitza Stark Phenotypes for gene: ZNF750 were changed from to Seborrhea-like dermatitis with psoriasiform elements, MIM# 610227
Mendeliome v0.10122 ZNF750 Zornitza Stark Publications for gene: ZNF750 were set to
Mendeliome v0.10121 ZNF750 Zornitza Stark Mode of inheritance for gene: ZNF750 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.10120 ZNF750 Zornitza Stark Classified gene: ZNF750 as Red List (low evidence)
Mendeliome v0.10120 ZNF750 Zornitza Stark Gene: znf750 has been classified as Red List (Low Evidence).
Mendeliome v0.10119 ZNF750 Zornitza Stark reviewed gene: ZNF750: Rating: RED; Mode of pathogenicity: None; Publications: 22185198, 16751772, 22936986; Phenotypes: Seborrhea-like dermatitis with psoriasiform elements, MIM# 610227; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.10119 GLB1 Zornitza Stark Marked gene: GLB1 as ready
Mendeliome v0.10119 GLB1 Zornitza Stark Gene: glb1 has been classified as Green List (High Evidence).
Mendeliome v0.10119 GLB1 Zornitza Stark Phenotypes for gene: GLB1 were changed from to GM1-gangliosidosis, type I MIM#230500; GM1-gangliosidosis, type II MIM# 230600; GM1-gangliosidosis, type III MIM#230650; Mucopolysaccharidosis type IVB (Morquio) MIM#253010
Mendeliome v0.10118 GLB1 Zornitza Stark Publications for gene: GLB1 were set to
Mendeliome v0.10117 GLB1 Zornitza Stark Mode of inheritance for gene: GLB1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.10116 LACC1 Bryony Thompson changed review comment from: At least 43 cases with biallelic variants (7 different variants) from 17 consanguineous families reported.
Sources: Literature; to: At least 43 cases with biallelic variants (7 different variants) from 17 mainly consanguineous families reported.
Sources: Literature
Mendeliome v0.10116 LACC1 Bryony Thompson Marked gene: LACC1 as ready
Mendeliome v0.10116 LACC1 Bryony Thompson Gene: lacc1 has been classified as Green List (High Evidence).
Mendeliome v0.10116 LACC1 Bryony Thompson Classified gene: LACC1 as Green List (high evidence)
Mendeliome v0.10116 LACC1 Bryony Thompson Gene: lacc1 has been classified as Green List (High Evidence).
Mendeliome v0.10115 LACC1 Bryony Thompson gene: LACC1 was added
gene: LACC1 was added to Mendeliome. Sources: Literature
Mode of inheritance for gene: LACC1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: LACC1 were set to 25220867; 27881174; 30872671; 33718577
Phenotypes for gene: LACC1 were set to Juvenile arthritis MIM#618795
Review for gene: LACC1 was set to GREEN
Added comment: At least 43 cases with biallelic variants (7 different variants) from 17 consanguineous families reported.
Sources: Literature
Mendeliome v0.10114 TRIM27 Zornitza Stark Marked gene: TRIM27 as ready
Mendeliome v0.10114 TRIM27 Zornitza Stark Gene: trim27 has been classified as Red List (Low Evidence).
Mendeliome v0.10114 TRIM27 Zornitza Stark Phenotypes for gene: TRIM27 were changed from to parkinson's disease
Mendeliome v0.10113 TRIM27 Zornitza Stark Classified gene: TRIM27 as Red List (low evidence)
Mendeliome v0.10113 TRIM27 Zornitza Stark Gene: trim27 has been classified as Red List (Low Evidence).
Mendeliome v0.10112 CR1 Zornitza Stark Marked gene: CR1 as ready
Mendeliome v0.10112 CR1 Zornitza Stark Gene: cr1 has been classified as Red List (Low Evidence).
Mendeliome v0.10112 CR1 Zornitza Stark Classified gene: CR1 as Red List (low evidence)
Mendeliome v0.10112 CR1 Zornitza Stark Gene: cr1 has been classified as Red List (Low Evidence).
Mendeliome v0.10111 ASTL Zornitza Stark Marked gene: ASTL as ready
Mendeliome v0.10111 ASTL Zornitza Stark Gene: astl has been classified as Red List (Low Evidence).
Mendeliome v0.10111 ASTL Zornitza Stark gene: ASTL was added
gene: ASTL was added to Mendeliome. Sources: Expert list
Mode of inheritance for gene: ASTL was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ASTL were set to 34704130
Phenotypes for gene: ASTL were set to Oocyte maturation defect 11, MIM# 619643
Review for gene: ASTL was set to RED
Added comment: Oocyte maturation defect-11 (OOMD11) is characterized by reduced or absent fertility and poor embryonic outcomes with assisted reproductive technology. Single family with two affected siblings reported.
Sources: Expert list
Mendeliome v0.10110 TERB2 Zornitza Stark Marked gene: TERB2 as ready
Mendeliome v0.10110 TERB2 Zornitza Stark Gene: terb2 has been classified as Amber List (Moderate Evidence).
Mendeliome v0.10110 TERB2 Zornitza Stark Classified gene: TERB2 as Amber List (moderate evidence)
Mendeliome v0.10110 TERB2 Zornitza Stark Gene: terb2 has been classified as Amber List (Moderate Evidence).
Mendeliome v0.10109 TERB2 Zornitza Stark gene: TERB2 was added
gene: TERB2 was added to Mendeliome. Sources: Literature
Mode of inheritance for gene: TERB2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: TERB2 were set to 33211200
Phenotypes for gene: TERB2 were set to Spermatogenic failure 59, MIM# 619645
Review for gene: TERB2 was set to AMBER
Added comment: One family with three affected siblings; mouse model.
Sources: Literature
Mendeliome v0.10108 SPIDR Bryony Thompson Classified gene: SPIDR as Amber List (moderate evidence)
Mendeliome v0.10108 SPIDR Bryony Thompson Gene: spidr has been classified as Amber List (Moderate Evidence).
Mendeliome v0.10107 SPIDR Bryony Thompson gene: SPIDR was added
gene: SPIDR was added to Mendeliome. Sources: Literature
Mode of inheritance for gene: SPIDR was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SPIDR were set to 34794894; 34697795; 27967308
Phenotypes for gene: SPIDR were set to Primary ovarian insufficiency
Review for gene: SPIDR was set to AMBER
Added comment: 3 POI cases from 2 unrelated families with homozygous nonsense variants, and in vitro functional assays demonstrating both variants alter SPIDR activity in homologous recombination.
Sources: Literature
Mendeliome v0.10106 BCAS3 Zornitza Stark Phenotypes for gene: BCAS3 were changed from Syndromic neurodevelopmental disorder to Hengel-Maroofian-Schols syndrome, MIM# 619641
Mendeliome v0.10105 BCAS3 Zornitza Stark reviewed gene: BCAS3: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Hengel-Maroofian-Schols syndrome, MIM# 619641; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.10105 REC8 Bryony Thompson Marked gene: REC8 as ready
Mendeliome v0.10105 REC8 Bryony Thompson Gene: rec8 has been classified as Amber List (Moderate Evidence).
Mendeliome v0.10105 REC8 Bryony Thompson Classified gene: REC8 as Amber List (moderate evidence)
Mendeliome v0.10105 REC8 Bryony Thompson Gene: rec8 has been classified as Amber List (Moderate Evidence).
Mendeliome v0.10104 ATP6V1B2 Zornitza Stark Marked gene: ATP6V1B2 as ready
Mendeliome v0.10104 ATP6V1B2 Zornitza Stark Gene: atp6v1b2 has been classified as Green List (High Evidence).
Mendeliome v0.10104 ATP6V1B2 Zornitza Stark Phenotypes for gene: ATP6V1B2 were changed from to Zimmermann-Laband syndrome 2, MIM# 616455; Deafness, congenital, with onychodystrophy, autosomal dominant, MIM# 124480; Epileptic encephalopathy
Mendeliome v0.10103 REC8 Bryony Thompson gene: REC8 was added
gene: REC8 was added to Mendeliome. Sources: Literature
Mode of inheritance for gene: REC8 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: REC8 were set to 34794894; 15515002; 34707299
Phenotypes for gene: REC8 were set to Primary ovarian insufficiency
Review for gene: REC8 was set to AMBER
Added comment: PMID: 34707299 - a French POI case with compound het predicted loss of function variants
PMID: 15515002 - Rec8-/- female mice demonstrated ovarian dysgenesis and lack of ovarian follicles at reproductive maturity.
PMID: 27603904 - 2 sisters with POI segregating a missense in REC8 inherited from the unaffected mother (p.Gln154Arg) and a missense in GDF9 inherited from the father. Possible digenic inheritance.
Sources: Literature
Mendeliome v0.10103 ATP6V1B2 Zornitza Stark Publications for gene: ATP6V1B2 were set to
Mendeliome v0.10102 ATP6V1B2 Zornitza Stark Mode of inheritance for gene: ATP6V1B2 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.10101 ATP6V1B2 Zornitza Stark edited their review of gene: ATP6V1B2: Changed phenotypes: Zimmermann-Laband syndrome 2, MIM# 616455, Deafness, congenital, with onychodystrophy, autosomal dominant, MIM# 124480, Epileptic encephalopathy
Mendeliome v0.10101 ATP6V1B2 Zornitza Stark reviewed gene: ATP6V1B2: Rating: GREEN; Mode of pathogenicity: None; Publications: 25915598, 24913193, 28396750, 32873933; Phenotypes: Zimmermann-Laband syndrome 2, MIM# 616455, Deafness, congenital, with onychodystrophy, autosomal dominant, MIM# 124480; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.10101 GDF6 Ain Roesley edited their review of gene: GDF6: Changed mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.10101 GDF6 Ain Roesley reviewed gene: GDF6: Rating: GREEN; Mode of pathogenicity: None; Publications: 30733656, 29130651, 26643732, 19129173, 23307924, 32737436; Phenotypes: Klippel-Feil syndrome 1, autosomal dominantMIM#118100, Leber congenital amaurosis 17 (MIM#615360), Microphthalmia, isolated 4 (MIM#613094), Multiple synostoses syndrome 4 (MIM#617898); Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal; Current diagnostic: yes
Mendeliome v0.10101 MSH5 Bryony Thompson Classified gene: MSH5 as Green List (high evidence)
Mendeliome v0.10101 MSH5 Bryony Thompson Gene: msh5 has been classified as Green List (High Evidence).
Mendeliome v0.10100 MSH5 Bryony Thompson changed review comment from: A homozygous missense mutation (p.D487Y) in two sisters with POI. Also, homologous mutation in mice results in atrophic ovaries without oocytes, and in vitro functional study revealed that mutant MSH5 impaired DNA homologous recombination repair. Null mouse model is viable, but sterile. A case with congenital adrenal hyperplasia, ovarian failure and Ehlers-Danlos syndrome had a de novo t(6;14)(p21;q32) translocation, including CYP21A2,TNXB and MSH5.
Sources: Literature; to: 4 unrelated male azoospermia cases with 3 different homozygous frameshift/missense variants. A homozygous missense mutation (p.D487Y) in two sisters with POI. Also, homologous mutation in mice results in atrophic ovaries without oocytes, and in vitro functional study revealed that mutant MSH5 impaired DNA homologous recombination repair. Null mouse model is viable, but sterile. A case with congenital adrenal hyperplasia, ovarian failure and Ehlers-Danlos syndrome had a de novo t(6;14)(p21;q32) translocation, including CYP21A2,TNXB and MSH5.
Sources: Literature
Mendeliome v0.10100 MSH5 Bryony Thompson changed review comment from: A homozygous missense mutation (p.D487Y) in two sisters with POI. Also, homologous mutation in mice results in atrophic ovaries without oocytes, and in vitro functional study revealed that mutant MSH5 impaired DNA homologous recombination repair. Null mouse model is viable, but sterile. A case with congenital adrenal hyperplasia, ovarian failure and Ehlers-Danlos syndrome had a de novo t(6;14)(p21;q32) translocation, including CYP21A2,TNXB and MSH5.
Sources: Literature; to: 4 unrelated male azoospermia cases with 3 different homozygous frameshift/missense variants. A homozygous missense mutation (p.D487Y) in two sisters with POI. Also, homologous mutation in mice results in atrophic ovaries without oocytes, and in vitro functional study revealed that mutant MSH5 impaired DNA homologous recombination repair. Null mouse model is viable, but sterile. A case with congenital adrenal hyperplasia, ovarian failure and Ehlers-Danlos syndrome had a de novo t(6;14)(p21;q32) translocation, including CYP21A2,TNXB and MSH5.
Sources: Literature
Mendeliome v0.10100 MSH4 Bryony Thompson Marked gene: MSH4 as ready
Mendeliome v0.10100 MSH4 Bryony Thompson Gene: msh4 has been classified as Green List (High Evidence).
Mendeliome v0.10100 MSH5 Bryony Thompson edited their review of gene: MSH5: Changed rating: GREEN; Changed publications: 28175301, 9916805, 24970489, 34755185; Changed phenotypes: Azoospermia, Premature ovarian failure 13 MIM#617442
Mendeliome v0.10100 MSH4 Bryony Thompson Classified gene: MSH4 as Green List (high evidence)
Mendeliome v0.10100 MSH4 Bryony Thompson Gene: msh4 has been classified as Green List (High Evidence).
Mendeliome v0.10099 ASXL2 Zornitza Stark Marked gene: ASXL2 as ready
Mendeliome v0.10099 ASXL2 Zornitza Stark Gene: asxl2 has been classified as Green List (High Evidence).
Mendeliome v0.10099 ASXL2 Zornitza Stark Phenotypes for gene: ASXL2 were changed from to Shashi-Pena syndrome, MIM# 617190
Mendeliome v0.10098 ASXL2 Zornitza Stark Publications for gene: ASXL2 were set to
Mendeliome v0.10097 ASXL2 Zornitza Stark Mode of inheritance for gene: ASXL2 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.10096 ASXL2 Zornitza Stark reviewed gene: ASXL2: Rating: GREEN; Mode of pathogenicity: None; Publications: 27693232, 33751773; Phenotypes: Shashi-Pena syndrome, MIM# 617190; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.10096 MSH4 Bryony Thompson gene: MSH4 was added
gene: MSH4 was added to Mendeliome. Sources: Literature
Mode of inheritance for gene: MSH4 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: MSH4 were set to 34794894; 10809667; 12478991; 28541421; 32741963; 33437391; 34755185; 33448284
Phenotypes for gene: MSH4 were set to Primary ovarian insufficiency; azoospermia
Review for gene: MSH4 was set to GREEN
Added comment: PMID: 34755185 - 2 siblings, 1 with non-obstructive azoospermia and 1 with POI, both homozygous for a stopgain variant. 1 male with non-obstructive azoospermia and biallelic variants.
PMID: 33448284 - 2 sisters with POI and 3 brothers with azoospermia in a consanguineous family with a homozygous missense variant (p.Ser754Leu)
PMID: 33437391 - 1 case with non-obstructive azoospermia with a homozygous stopgain variant
PMID: 32741963 - 2 unrelated cases with spermatogenic arrest with homozygous missense variants (p.Pro638Leu; p. Ser754Leu)
PMID: 28541421 - 2 sisters with POI and homozygous for a splice site variant
PMID: 10809667 - Msh4-/- male mice are infertile and Msh4-/- female mice lacked most oocytes in the ovaries.
Sources: Literature
Mendeliome v0.10095 ASPH Zornitza Stark Marked gene: ASPH as ready
Mendeliome v0.10095 ASPH Zornitza Stark Gene: asph has been classified as Green List (High Evidence).
Mendeliome v0.10095 ASPH Zornitza Stark Phenotypes for gene: ASPH were changed from to Traboulsi syndrome , MIM#601552
Mendeliome v0.10094 ASPH Zornitza Stark Publications for gene: ASPH were set to
Mendeliome v0.10093 ASPH Zornitza Stark Mode of inheritance for gene: ASPH was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.10092 ASPH Zornitza Stark reviewed gene: ASPH: Rating: GREEN; Mode of pathogenicity: None; Publications: 24768550, 30194805, 34018898; Phenotypes: Traboulsi syndrome , MIM#601552; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.10092 ARHGAP29 Zornitza Stark Marked gene: ARHGAP29 as ready
Mendeliome v0.10092 ARHGAP29 Zornitza Stark Gene: arhgap29 has been classified as Green List (High Evidence).
Mendeliome v0.10092 ARHGAP29 Zornitza Stark Phenotypes for gene: ARHGAP29 were changed from to Cleft palate; cleft lip with or without cleft palate
Mendeliome v0.10091 ARHGAP29 Zornitza Stark Publications for gene: ARHGAP29 were set to
Mendeliome v0.10090 ARHGAP29 Zornitza Stark Mode of inheritance for gene: ARHGAP29 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.10089 ARHGAP29 Zornitza Stark reviewed gene: ARHGAP29: Rating: GREEN; Mode of pathogenicity: None; Publications: 27350171, 23008150; Phenotypes: Cleft palate, cleft lip with or without cleft palate; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.10089 GFM1 Ain Roesley reviewed gene: GFM1: Rating: GREEN; Mode of pathogenicity: None; Publications: 31680380, 25852744, 26937387; Phenotypes: Combined oxidative phosphorylation deficiency 1 MIM#609060; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Mendeliome v0.10089 GJA3 Ain Roesley reviewed gene: GJA3: Rating: GREEN; Mode of pathogenicity: None; Publications: 10205266, 15286166, 15448617, 21681855, 22312188, 22550389, 22876138; Phenotypes: Cataract 14, multiple types MIM#601885; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes
Mendeliome v0.10089 GJC2 Ain Roesley reviewed gene: GJC2: Rating: GREEN; Mode of pathogenicity: None; Publications: 19056803, 31431325, 25059390, 20537300, 21266381; Phenotypes: Spastic paraplegia 44, autosomal recessive MIM#613206, Leukodystrophy, hypomyelinating, 2 MIM#608804, Lymphatic malformation 3 MIM#613480; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Mendeliome v0.10089 MEIOB Bryony Thompson Classified gene: MEIOB as Green List (high evidence)
Mendeliome v0.10089 MEIOB Bryony Thompson Gene: meiob has been classified as Green List (High Evidence).
Mendeliome v0.10088 MEIOB Bryony Thompson gene: MEIOB was added
gene: MEIOB was added to Mendeliome. Sources: Literature
Mode of inheritance for gene: MEIOB was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: MEIOB were set to 34794894; 24068956; 31000419; 28206990
Phenotypes for gene: MEIOB were set to Spermatogenic failure 22 MIM#617706; primary ovarian insufficiency
Review for gene: MEIOB was set to GREEN
Added comment: At least 6 cases in 3 families, plus a mouse model for spermatogenic failure. A single family and a mouse model for POI.
PMID: 28206990 - 4 infertile brothers with a homozygous missense variant.
PMID: 32741963 - 2 unrelated males with complete spermatocytic arrest and homozygous truncating variants.
PMID: 24068956 - infertile male and female null mouse model.
PMID: 31000419 - Single family with a homozygous splicing variant in 2 sisters with POI.
Sources: Literature
Mendeliome v0.10087 GLB1 Ain Roesley reviewed gene: GLB1: Rating: GREEN; Mode of pathogenicity: None; Publications: 24156116; Phenotypes: GM1-gangliosidosis, type I MIM#230500, GM1-gangliosidosis, type II MIM# 230600, GM1-gangliosidosis, type III MIM#230650, Mucopolysaccharidosis type IVB (Morquio) MIM#253010; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Mendeliome v0.10087 HELQ Bryony Thompson Marked gene: HELQ as ready
Mendeliome v0.10087 HELQ Bryony Thompson Gene: helq has been classified as Amber List (Moderate Evidence).
Mendeliome v0.10087 HELQ Bryony Thompson Deleted their comment
Mendeliome v0.10087 HELQ Bryony Thompson commented on gene: HELQ: A single POI heterozygous for a frameshift variant (c.3095delA;p.Tyr1032Serfs*4), and a null mouse model (both homozygous and heterozygous) with subfertility and germ cell attrition.
Mendeliome v0.10087 HELQ Bryony Thompson Classified gene: HELQ as Amber List (moderate evidence)
Mendeliome v0.10087 HELQ Bryony Thompson Gene: helq has been classified as Amber List (Moderate Evidence).
Mendeliome v0.10086 HELQ Bryony Thompson gene: HELQ was added
gene: HELQ was added to Mendeliome. Sources: Literature
Mode of inheritance for gene: HELQ was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: HELQ were set to 34794894; 24005329; 33095795
Phenotypes for gene: HELQ were set to Primary ovarian insufficiency
Review for gene: HELQ was set to AMBER
Added comment: Sources: Literature
Mendeliome v0.10085 TRIM27 Ain Roesley reviewed gene: TRIM27: Rating: RED; Mode of pathogenicity: None; Publications: 34419804; Phenotypes: parkinson's disease; Mode of inheritance: None; Current diagnostic: yes
Mendeliome v0.10085 AP3B2 Zornitza Stark Marked gene: AP3B2 as ready
Mendeliome v0.10085 AP3B2 Zornitza Stark Gene: ap3b2 has been classified as Green List (High Evidence).
Mendeliome v0.10085 AP3B2 Zornitza Stark Phenotypes for gene: AP3B2 were changed from to Developmental and epileptic encephalopathy 48, MIM# 617276
Mendeliome v0.10084 AP3B2 Zornitza Stark Publications for gene: AP3B2 were set to
Mendeliome v0.10083 AP3B2 Zornitza Stark Mode of inheritance for gene: AP3B2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.10082 AP3B2 Zornitza Stark reviewed gene: AP3B2: Rating: GREEN; Mode of pathogenicity: None; Publications: 27431290, 27866705, 32705489; Phenotypes: Developmental and epileptic encephalopathy 48, MIM# 617276; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.10082 ANTXR2 Zornitza Stark Marked gene: ANTXR2 as ready
Mendeliome v0.10082 ANTXR2 Zornitza Stark Gene: antxr2 has been classified as Green List (High Evidence).
Mendeliome v0.10082 ANTXR2 Zornitza Stark Phenotypes for gene: ANTXR2 were changed from to Hyaline fibromatosis syndrome, MIM# 228600; MONDO:0009229
Mendeliome v0.10081 ANTXR2 Zornitza Stark Publications for gene: ANTXR2 were set to
Mendeliome v0.10080 ANTXR2 Zornitza Stark Mode of inheritance for gene: ANTXR2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.10079 ANTXR2 Zornitza Stark reviewed gene: ANTXR2: Rating: GREEN; Mode of pathogenicity: None; Publications: 12973667, 14508707; Phenotypes: Hyaline fibromatosis syndrome, MIM# 228600, MONDO:0009229; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.10079 CR1 Ain Roesley reviewed gene: CR1: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None; Current diagnostic: yes
Mendeliome v0.10079 SLC29A3 Zornitza Stark Marked gene: SLC29A3 as ready
Mendeliome v0.10079 SLC29A3 Zornitza Stark Gene: slc29a3 has been classified as Green List (High Evidence).
Mendeliome v0.10079 SLC29A3 Zornitza Stark Phenotypes for gene: SLC29A3 were changed from to Histiocytosis-lymphadenopathy plus syndrome, MIM# 602782
Mendeliome v0.10078 SLC29A3 Zornitza Stark Publications for gene: SLC29A3 were set to
Mendeliome v0.10077 SLC29A3 Zornitza Stark Mode of inheritance for gene: SLC29A3 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.10076 SLC29A3 Zornitza Stark reviewed gene: SLC29A3: Rating: GREEN; Mode of pathogenicity: None; Publications: 18940313, 19336477, 22238637; Phenotypes: Histiocytosis-lymphadenopathy plus syndrome, MIM# 602782; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.10076 TBC1D32 Zornitza Stark Phenotypes for gene: TBC1D32 were changed from Orofaciodigital syndrome type IX to Orofaciodigital syndrome type IX; syndromic hypopituitarism
Mendeliome v0.10075 TBC1D32 Zornitza Stark Publications for gene: TBC1D32 were set to 24285566; 32573025; 32060556
Mendeliome v0.10074 TBC1D32 Zornitza Stark Classified gene: TBC1D32 as Green List (high evidence)
Mendeliome v0.10074 TBC1D32 Zornitza Stark Gene: tbc1d32 has been classified as Green List (High Evidence).
Mendeliome v0.10073 TBC1D32 Zornitza Stark edited their review of gene: TBC1D32: Changed rating: GREEN
Mendeliome v0.10073 TBC1D32 Zornitza Stark edited their review of gene: TBC1D32: Added comment: Further report of ciliopathy phenotype in PMID 31130284.; Changed publications: 24285566, 32573025, 32060556, 31130284
Mendeliome v0.10073 BLOC1S1 Zornitza Stark Marked gene: BLOC1S1 as ready
Mendeliome v0.10073 BLOC1S1 Zornitza Stark Gene: bloc1s1 has been classified as Green List (High Evidence).
Mendeliome v0.10073 BLOC1S1 Zornitza Stark Classified gene: BLOC1S1 as Green List (high evidence)
Mendeliome v0.10073 BLOC1S1 Zornitza Stark Gene: bloc1s1 has been classified as Green List (High Evidence).
Mendeliome v0.10072 BLOC1S1 Zornitza Stark gene: BLOC1S1 was added
gene: BLOC1S1 was added to Mendeliome. Sources: Literature
Mode of inheritance for gene: BLOC1S1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: BLOC1S1 were set to 33875846
Phenotypes for gene: BLOC1S1 were set to severe intellectual disability; severe global developmental delay; epilepsy
Review for gene: BLOC1S1 was set to GREEN
Added comment: 4 individuals reported.
Sources: Literature
Mendeliome v0.10071 CLCN7 Zornitza Stark Marked gene: CLCN7 as ready
Mendeliome v0.10071 CLCN7 Zornitza Stark Gene: clcn7 has been classified as Green List (High Evidence).
Mendeliome v0.10071 CLCN7 Zornitza Stark Phenotypes for gene: CLCN7 were changed from to Hypopigmentation, organomegaly, and delayed myelination and development, MIM# 618541; Osteopetrosis, autosomal recessive 4, MIM# 611490
Mendeliome v0.10070 CLCN7 Zornitza Stark Publications for gene: CLCN7 were set to
Mendeliome v0.10069 CLCN7 Zornitza Stark Mode of inheritance for gene: CLCN7 was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Mendeliome v0.10068 CLCN7 Zornitza Stark reviewed gene: CLCN7: Rating: GREEN; Mode of pathogenicity: None; Publications: 31155284; Phenotypes: Hypopigmentation, organomegaly, and delayed myelination and development, MIM# 618541, Osteopetrosis, autosomal recessive 4, MIM# 611490; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Mendeliome v0.10068 TMEM260 Zornitza Stark changed review comment from: Seven unrelated families reported.; to: Seven unrelated families reported. Clinical features: ventricular septal defects (12/12), mostly secondary to truncus arteriosus (10/12), elevated creatinine levels (6/12), horse-shoe kidneys (1/12) and renal cysts (1/12) in patients.
Mendeliome v0.10068 TMEM260 Zornitza Stark Classified gene: TMEM260 as Green List (high evidence)
Mendeliome v0.10068 TMEM260 Zornitza Stark Gene: tmem260 has been classified as Green List (High Evidence).
Mendeliome v0.10067 TMEM260 Zornitza Stark edited their review of gene: TMEM260: Changed rating: GREEN
Mendeliome v0.10067 TMEM260 Zornitza Stark changed review comment from: Two unrelated families reported.; to: Seven unrelated families reported.
Mendeliome v0.10067 TMEM260 Zornitza Stark edited their review of gene: TMEM260: Changed publications: 28318500, 34612517
Mendeliome v0.10067 SNIP1 Zornitza Stark Classified gene: SNIP1 as Amber List (moderate evidence)
Mendeliome v0.10067 SNIP1 Zornitza Stark Gene: snip1 has been classified as Amber List (Moderate Evidence).
Mendeliome v0.10066 SNIP1 Zornitza Stark edited their review of gene: SNIP1: Added comment: A single (founder) variant NM_024700.4:c.1097A>G, p.(Glu366Gly) has been reported in over 30 cases of Psychomotor retardation, epilepsy, and craniofacial dysmorphism OMIM:614501 in the Amish community (PMIDs: 22279524; 34570759). Cases are homozygous for this variant and unaffected members of the families are heterozygous or wt. Overexpression of the equivalent mouse variant in mouse inner medullary collecting duct cells, resulted in a more aggregated appearance in the nucleus compared to wildtype. The variant protein maybe unstable as Western blots showed reduced levels of the variant protein (PMID: 22279524). Whole transcriptomic analysis of patient blood was performed in PMID: 34570759. This revealed 11 upregulated and 32 downregulated genes, of which 24 had previously been associated with neurological disease.; Changed rating: AMBER; Changed publications: 22279524, 34570759
Mendeliome v0.10066 TAF4 Zornitza Stark Marked gene: TAF4 as ready
Mendeliome v0.10066 TAF4 Zornitza Stark Gene: taf4 has been classified as Amber List (Moderate Evidence).
Mendeliome v0.10066 TAF4 Zornitza Stark Classified gene: TAF4 as Amber List (moderate evidence)
Mendeliome v0.10066 TAF4 Zornitza Stark Gene: taf4 has been classified as Amber List (Moderate Evidence).
Mendeliome v0.10065 TAF4 Zornitza Stark gene: TAF4 was added
gene: TAF4 was added to Mendeliome. Sources: Literature
Mode of inheritance for gene: TAF4 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: TAF4 were set to 33875846; 28191890
Phenotypes for gene: TAF4 were set to Neurodevelopmental disorder
Review for gene: TAF4 was set to AMBER
Added comment: Three individuals reported with de novo LoF variants as part of large cohorts, limited phenotypic information available.
Sources: Literature
Mendeliome v0.10064 RAB11A Zornitza Stark Publications for gene: RAB11A were set to 29100083
Mendeliome v0.10063 RAB11A Zornitza Stark Classified gene: RAB11A as Green List (high evidence)
Mendeliome v0.10063 RAB11A Zornitza Stark Gene: rab11a has been classified as Green List (High Evidence).
Mendeliome v0.10062 RAB11A Zornitza Stark edited their review of gene: RAB11A: Added comment: Two additional cases reported.; Changed rating: GREEN; Changed publications: 29100083, 33875846
Mendeliome v0.10062 PLK1 Zornitza Stark Marked gene: PLK1 as ready
Mendeliome v0.10062 PLK1 Zornitza Stark Gene: plk1 has been classified as Green List (High Evidence).
Mendeliome v0.10062 PLK1 Zornitza Stark Classified gene: PLK1 as Green List (high evidence)
Mendeliome v0.10062 PLK1 Zornitza Stark Gene: plk1 has been classified as Green List (High Evidence).
Mendeliome v0.10061 PLK1 Zornitza Stark gene: PLK1 was added
gene: PLK1 was added to Mendeliome. Sources: Literature
Mode of inheritance for gene: PLK1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: PLK1 were set to 33875846
Phenotypes for gene: PLK1 were set to Epilepsy; microcephaly; intellectual disability
Review for gene: PLK1 was set to GREEN
Added comment: More than 5 individuals reported.
Sources: Literature
Mendeliome v0.10060 RAP1GDS1 Zornitza Stark Publications for gene: RAP1GDS1 were set to 32431071
Mendeliome v0.10059 RAP1GDS1 Zornitza Stark Classified gene: RAP1GDS1 as Green List (high evidence)
Mendeliome v0.10059 RAP1GDS1 Zornitza Stark Gene: rap1gds1 has been classified as Green List (High Evidence).
Mendeliome v0.10058 RAP1GDS1 Zornitza Stark edited their review of gene: RAP1GDS1: Added comment: Two additional families reported.; Changed rating: GREEN; Changed publications: 32431071, 33875846
Mendeliome v0.10058 PRRX1 Zornitza Stark Marked gene: PRRX1 as ready
Mendeliome v0.10058 PRRX1 Zornitza Stark Gene: prrx1 has been classified as Green List (High Evidence).
Mendeliome v0.10058 PRRX1 Zornitza Stark Phenotypes for gene: PRRX1 were changed from to Agnathia-otocephaly complex, MIM# 202650
Mendeliome v0.10057 PRRX1 Zornitza Stark Publications for gene: PRRX1 were set to
Mendeliome v0.10056 PRRX1 Zornitza Stark Mode of inheritance for gene: PRRX1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.10055 PRRX1 Zornitza Stark reviewed gene: PRRX1: Rating: GREEN; Mode of pathogenicity: None; Publications: 21294718, 22211708, 22674740, 23444262; Phenotypes: Agnathia-otocephaly complex, MIM# 202650; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.10055 MMP15 Zornitza Stark Marked gene: MMP15 as ready
Mendeliome v0.10055 MMP15 Zornitza Stark Gene: mmp15 has been classified as Amber List (Moderate Evidence).
Mendeliome v0.10055 MMP15 Zornitza Stark Classified gene: MMP15 as Amber List (moderate evidence)
Mendeliome v0.10055 MMP15 Zornitza Stark Gene: mmp15 has been classified as Amber List (Moderate Evidence).
Mendeliome v0.10054 MMP15 Zornitza Stark gene: MMP15 was added
gene: MMP15 was added to Mendeliome. Sources: Literature
Mode of inheritance for gene: MMP15 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: MMP15 were set to 33875846
Phenotypes for gene: MMP15 were set to Cholestasis; Congenital heart disease
Review for gene: MMP15 was set to AMBER
Added comment: Three individuals from two families with bi-allelic variants and very similar phenotype including rare combination of symtoms (Alagille-like) cholestasis with hepatomegaly and congenital heart disease.
Sources: Literature
Mendeliome v0.10053 RPA1 Zornitza Stark Marked gene: RPA1 as ready
Mendeliome v0.10053 RPA1 Zornitza Stark Gene: rpa1 has been classified as Green List (High Evidence).
Mendeliome v0.10053 RPA1 Zornitza Stark Classified gene: RPA1 as Green List (high evidence)
Mendeliome v0.10053 RPA1 Zornitza Stark Gene: rpa1 has been classified as Green List (High Evidence).
Mendeliome v0.10052 RPA1 Zornitza Stark gene: RPA1 was added
gene: RPA1 was added to Mendeliome. Sources: Literature
Mode of inheritance for gene: RPA1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: RPA1 were set to 34767620
Phenotypes for gene: RPA1 were set to Bone marrow failure; T- and B-cell lymphopaenia; pulmonary fibrosis; skin manifestations; short telomeres
Mode of pathogenicity for gene: RPA1 was set to Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments
Review for gene: RPA1 was set to GREEN
Added comment: 4 individuals with gain of function variants with bone marrow failure, myelodysplastic syndrome, T- and B-cell lymphopaenia, pulmonary fibrosis, or skin manifestations reported.
Sources: Literature
Mendeliome v0.10051 AXIN2 Zornitza Stark Marked gene: AXIN2 as ready
Mendeliome v0.10051 AXIN2 Zornitza Stark Gene: axin2 has been classified as Green List (High Evidence).
Mendeliome v0.10051 AXIN2 Zornitza Stark Phenotypes for gene: AXIN2 were changed from to Oligodontia-colorectal cancer syndrome, MIM# 608615
Mendeliome v0.10050 AXIN2 Zornitza Stark Mode of inheritance for gene: AXIN2 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.10049 AXIN2 Zornitza Stark reviewed gene: AXIN2: Rating: GREEN; Mode of pathogenicity: None; Publications: 15042511, 21626677, 21416598, 34637023; Phenotypes: Oligodontia-colorectal cancer syndrome, MIM# 608615; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.10049 ADK Zornitza Stark Publications for gene: ADK were set to 21963049; 17120046
Mendeliome v0.10048 ADK Zornitza Stark commented on gene: ADK: Three additional families reported, liver disease prominent.
Mendeliome v0.10048 ADK Zornitza Stark edited their review of gene: ADK: Changed publications: 21963049, 17120046, 33309011
Mendeliome v0.10048 ATP9A Zornitza Stark Marked gene: ATP9A as ready
Mendeliome v0.10048 ATP9A Zornitza Stark Gene: atp9a has been classified as Green List (High Evidence).
Mendeliome v0.10048 ATP9A Zornitza Stark Publications for gene: ATP9A were set to http://dx.doi.org/10.1136/jmedgenet-2021-107843
Mendeliome v0.10047 ATP9A Zornitza Stark Classified gene: ATP9A as Green List (high evidence)
Mendeliome v0.10047 ATP9A Zornitza Stark Gene: atp9a has been classified as Green List (High Evidence).
Mendeliome v0.10046 ATP9A Zornitza Stark reviewed gene: ATP9A: Rating: GREEN; Mode of pathogenicity: None; Publications: 34379057, 34764295; Phenotypes: Neurodevelopmental delay, Postnatal microcephaly, Failure to thrive, Gastrointestinal symptoms; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.10046 ECM1 Zornitza Stark Marked gene: ECM1 as ready
Mendeliome v0.10046 ECM1 Zornitza Stark Gene: ecm1 has been classified as Green List (High Evidence).
Mendeliome v0.10046 ECM1 Zornitza Stark Phenotypes for gene: ECM1 were changed from to Urbach-Wiethe disease #247100
Mendeliome v0.10045 ECM1 Zornitza Stark Publications for gene: ECM1 were set to
Mendeliome v0.10044 ECM1 Zornitza Stark changed review comment from: PMID: 11929856 - Hamada et al 2002 - looked at 6 different unrelated consanguineous families (from Saudi Arabia, Kuwait, Pakistan, The Netherlands, UK, and a group of South African families with a probable common ancestor) with a clinical diagnosis of Lipoid proteinosis (LP)/Urbach–Wiethe disease. They performed a genome-wide linkage analysis and identified a region and then looked at the expression of candidate genes in fibroblasts from patients compared to controls. ECM1 was found to have lower expression levels. 6 homozygous deletion variants were identified in the patients. In one family they established that the parents were heterozygous for the variant.

PMID: 28720532 - Afifi et al 2017 - studied 12 patients from 10 unrelated consanguineous Egyptian families with a clinical diagnosis of lipoid proteinosis. The patients reported progressive hoarseness of voice and easily damaged skin by minor trauma or friction. Homozygous ECM1 variants were detected in affected members in all families: 1 family had a missense variant, 5 families had splice site variants and 4 families had indels predicted to cause frameshifts. Parents were found to be heterozygous for the variants.

PMID: 33159951 - Zhu et al 2021 - a novel homozygous three-nucleotide duplication (c.506_508dupCTG) in ECM in two siblings affected with LP from a consanguineous Chinese family.; to: Lipoid proteinosis of Urbach and Wiethe is a rare autosomal recessive disorder typified by generalized thickening of skin, mucosae, and certain viscera. Classic features include beaded eyelid papules and laryngeal infiltration leading to hoarseness. The disorder is clinically heterogeneous, with affected individuals displaying differing degrees of skin scarring and infiltration, variable signs of hoarseness and respiratory distress, and in some cases neurologic abnormalities such as temporal lobe epilepsy. Histologically, there is widespread deposition of hyaline (glycoprotein) material and disruption/reduplication of basement membrane

PMID: 11929856 - Hamada et al 2002 - looked at 6 different unrelated consanguineous families (from Saudi Arabia, Kuwait, Pakistan, The Netherlands, UK, and a group of South African families with a probable common ancestor) with a clinical diagnosis of Lipoid proteinosis (LP)/Urbach–Wiethe disease. They performed a genome-wide linkage analysis and identified a region and then looked at the expression of candidate genes in fibroblasts from patients compared to controls. ECM1 was found to have lower expression levels. 6 homozygous deletion variants were identified in the patients. In one family they established that the parents were heterozygous for the variant.

PMID: 28720532 - Afifi et al 2017 - studied 12 patients from 10 unrelated consanguineous Egyptian families with a clinical diagnosis of lipoid proteinosis. The patients reported progressive hoarseness of voice and easily damaged skin by minor trauma or friction. Homozygous ECM1 variants were detected in affected members in all families: 1 family had a missense variant, 5 families had splice site variants and 4 families had indels predicted to cause frameshifts. Parents were found to be heterozygous for the variants.

PMID: 33159951 - Zhu et al 2021 - a novel homozygous three-nucleotide duplication (c.506_508dupCTG) in ECM in two siblings affected with LP from a consanguineous Chinese family.
Mendeliome v0.10044 ECM1 Zornitza Stark Mode of inheritance for gene: ECM1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.10043 ECM1 Zornitza Stark reviewed gene: ECM1: Rating: GREEN; Mode of pathogenicity: None; Publications: 11929856, 28720532, 33159951; Phenotypes: Urbach-Wiethe disease #247100; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.10043 SMPX Zornitza Stark Phenotypes for gene: SMPX were changed from Deafness, X-linked 4, MIM# 300066 to Deafness, X-linked 4, MIM# 300066; Distal myopathy, adult-onset
Mendeliome v0.10042 SMPX Zornitza Stark Publications for gene: SMPX were set to 21549342; 21549336; 21893181; 22911656; 28542515
Mendeliome v0.10041 SMPX Zornitza Stark edited their review of gene: SMPX: Added comment: PMID 33974137: Four different missense variants were identified in ten patients from nine families in five different countries. Haplotype analysis of patients with similar ancestry revealed two different founder mutations in Southern Europe and France, indicating that the prevalence in these populations may be higher. Clinical features: adult-onset, usually distal more than proximal limb muscle weakness, slowly progressing over decades with preserved walking. Lower limb muscle imaging showed a characteristic pattern of muscle involvement and fatty degeneration. Histopathological and electron microscopic analysis of patient muscle biopsies revealed myopathic findings with rimmed vacuoles and the presence of sarcoplasmic inclusions, some with amyloid-like characteristics. In silico predictions and subsequent cell culture studies showed that the missense mutations increase aggregation propensity of the SMPX protein. In cell culture studies, overexpressed SMPX localized to stress granules and slowed down their clearance.; Changed publications: 21549342, 21549336, 21893181, 22911656, 28542515, 33974137; Changed phenotypes: Deafness, X-linked 4, MIM# 300066, Distal myopathy, adult-onset
Mendeliome v0.10041 PIEZO1 Zornitza Stark Phenotypes for gene: PIEZO1 were changed from Lymphatic malformation 6, 616843; Dehydrated hereditary stomatocytosis with or without pseudohyperkalemia and/or perinatal edema, 194380 to Lymphatic malformation 6, 616843; Dehydrated hereditary stomatocytosis with or without pseudohyperkalemia and/or perinatal edema, 194380; Erythrocytosis
Mendeliome v0.10040 PIEZO1 Zornitza Stark Publications for gene: PIEZO1 were set to 23695678; 26333996
Mendeliome v0.10039 PIEZO1 Zornitza Stark reviewed gene: PIEZO1: Rating: GREEN; Mode of pathogenicity: Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments; Publications: 33181827; Phenotypes: Erythrocytosis; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.10039 CNKSR2 Zornitza Stark Marked gene: CNKSR2 as ready
Mendeliome v0.10039 CNKSR2 Zornitza Stark Gene: cnksr2 has been classified as Green List (High Evidence).
Mendeliome v0.10039 CNKSR2 Zornitza Stark Phenotypes for gene: CNKSR2 were changed from to Intellectual developmental disorder, X-linked, syndromic, Houge type, MIM# 301008
Mendeliome v0.10038 CNKSR2 Zornitza Stark Publications for gene: CNKSR2 were set to
Mendeliome v0.10037 CNKSR2 Zornitza Stark Mode of inheritance for gene: CNKSR2 was changed from Unknown to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Mendeliome v0.10036 CNKSR2 Zornitza Stark reviewed gene: CNKSR2: Rating: GREEN; Mode of pathogenicity: None; Publications: 34266427; Phenotypes: Intellectual developmental disorder, X-linked, syndromic, Houge type, MIM# 301008; Mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Mendeliome v0.10036 FGF5 Zornitza Stark Marked gene: FGF5 as ready
Mendeliome v0.10036 FGF5 Zornitza Stark Gene: fgf5 has been classified as Green List (High Evidence).
Mendeliome v0.10036 FGF5 Zornitza Stark Classified gene: FGF5 as Green List (high evidence)
Mendeliome v0.10036 FGF5 Zornitza Stark Gene: fgf5 has been classified as Green List (High Evidence).
Mendeliome v0.10035 FGF5 Zornitza Stark gene: FGF5 was added
gene: FGF5 was added to Mendeliome. Sources: Literature
Mode of inheritance for gene: FGF5 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: FGF5 were set to 24989505
Phenotypes for gene: FGF5 were set to Hypertrichosis
Review for gene: FGF5 was set to GREEN
Added comment: Two families reported, aware of additional unpublished case.
Sources: Literature
Mendeliome v0.10034 ANK3 Zornitza Stark Phenotypes for gene: ANK3 were changed from Mental retardation, autosomal recessive, 37, MIM# 615493 to Mental retardation, autosomal recessive, 37 615493; Intellectual disability, autosomal dominant
Mendeliome v0.10033 ANK3 Zornitza Stark Publications for gene: ANK3 were set to 23390136; 28687526
Mendeliome v0.10032 ANK3 Zornitza Stark Classified gene: ANK3 as Green List (high evidence)
Mendeliome v0.10032 ANK3 Zornitza Stark Gene: ank3 has been classified as Green List (High Evidence).
Mendeliome v0.10031 ANK3 Zornitza Stark edited their review of gene: ANK3: Added comment: PMID 34218362: four unrelated novel, and two previously published patients with heterozygos ANK3 LoF variants are reported/summarized.; Changed rating: GREEN; Changed publications: 23390136, 28687526, 34218362; Changed phenotypes: Mental retardation, autosomal recessive, 37 615493, Intellectual disability, autosomal dominant
Mendeliome v0.10031 HIBADH Zornitza Stark Marked gene: HIBADH as ready
Mendeliome v0.10031 HIBADH Zornitza Stark Gene: hibadh has been classified as Red List (Low Evidence).
Mendeliome v0.10031 HIBADH Zornitza Stark gene: HIBADH was added
gene: HIBADH was added to Mendeliome. Sources: Literature
Mode of inheritance for gene: HIBADH was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: HIBADH were set to 34176136
Phenotypes for gene: HIBADH were set to Organic aciduria
Review for gene: HIBADH was set to RED
Added comment: Single family reported with two siblings presenting with 3-Hydroxyisobutyric aciduria. Male sib with neurodevelopmental symptoms, female sibling asymptomatic. No functional studies
Sources: Literature
Mendeliome v0.10030 LAMB1 Zornitza Stark Phenotypes for gene: LAMB1 were changed from Lissencephaly 5, MIM# 615191; Cystic leukoencephalopathy to Lissencephaly 5, MIM# 615191; Cystic leukoencephalopathy; Adult-onset leukoencephalopathy
Mendeliome v0.10029 LAMB1 Zornitza Stark Publications for gene: LAMB1 were set to 23472759; 25925986; 29888467; 25925986; 32548278
Mendeliome v0.10028 LAMB1 Zornitza Stark Mode of inheritance for gene: LAMB1 was changed from BIALLELIC, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Mendeliome v0.10027 LAMB1 Zornitza Stark edited their review of gene: LAMB1: Added comment: Association between mono-allelic variants and adult-onset leukoencephalopathy:

LAMB1 variants found in 5 families with cerebral small vessel disease. 4 are truncating frameshifts (and 2 of the families have the same frameshift), 1 is a canonical splice. All families had adult onset of symptoms ranging from 20-63yo. All have white matter hypersignals. ‘These variants are associated with a novel phenotype characterized by the association of a hippocampal type episodic memory defect and a diffuse vascular leukoencephalopathy.’; Changed publications: 23472759, 25925986, 29888467, 25925986, 32548278, 34606115; Changed phenotypes: Lissencephaly 5, MIM# 615191, Cystic leukoencephalopathy, Adult-onset leukoencephalopathy; Changed mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Mendeliome v0.10027 OGDHL Melanie Marty edited their review of gene: OGDHL: Changed phenotypes: Neurodevelopmental disorder featuring epilepsy, hearing loss, visual impairment and ataxia
Mendeliome v0.10027 OGDHL Melanie Marty edited their review of gene: OGDHL: Changed phenotypes: Neurodevelopmental disorder featuring epilepsy, hearing loss and visual impairment
Mendeliome v0.10027 OGDHL Melanie Marty edited their review of gene: OGDHL: Changed publications: 34800363
Mendeliome v0.10027 OGDHL Alison Yeung Marked gene: OGDHL as ready
Mendeliome v0.10027 OGDHL Alison Yeung Gene: ogdhl has been classified as Green List (High Evidence).
Mendeliome v0.10027 OGDHL Alison Yeung Classified gene: OGDHL as Green List (high evidence)
Mendeliome v0.10027 OGDHL Alison Yeung Gene: ogdhl has been classified as Green List (High Evidence).
Mendeliome v0.10026 ATP5A1 Naomi Baker reviewed gene: ATP5A1: Rating: AMBER; Mode of pathogenicity: None; Publications: PMID: 34483339; Phenotypes: feeding intolerance, failure to thrive, hyperammonemia, lactic acidemia; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.10026 SLIRP Zornitza Stark Marked gene: SLIRP as ready
Mendeliome v0.10026 SLIRP Zornitza Stark Gene: slirp has been classified as Red List (Low Evidence).
Mendeliome v0.10026 SLIRP Zornitza Stark Classified gene: SLIRP as Red List (low evidence)
Mendeliome v0.10026 SLIRP Zornitza Stark Gene: slirp has been classified as Red List (Low Evidence).
Mendeliome v0.10025 FOXR1 Zornitza Stark Marked gene: FOXR1 as ready
Mendeliome v0.10025 FOXR1 Zornitza Stark Gene: foxr1 has been classified as Amber List (Moderate Evidence).
Mendeliome v0.10025 FOXR1 Zornitza Stark Classified gene: FOXR1 as Amber List (moderate evidence)
Mendeliome v0.10025 FOXR1 Zornitza Stark Gene: foxr1 has been classified as Amber List (Moderate Evidence).
Mendeliome v0.10024 OGDHL Melanie Marty gene: OGDHL was added
gene: OGDHL was added to Mendeliome. Sources: Literature
Mode of inheritance for gene: OGDHL was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: OGDHL were set to PMID: 34800363
Phenotypes for gene: OGDHL were set to Neurodevelopmental disorder featuring epilepsy, hearing loss, visual impairment, and ataxia
Review for gene: OGDHL was set to GREEN
Added comment: Nine individuals from eight unrelated families carrying bi-allelic variants in OGDHL with a range of neurological and neurodevelopmental phenotypes including epilepsy, hearing
loss, visual impairment, gait ataxia, microcephaly, and hypoplastic corpus callosum.

Homozygous and compound heterozygous variants reported. Variant types reported include missense, PTCs and a synonymous variant that was shown to affect splicing.

Functional studies with a CRISPR-Cas9-mediated tissue knockout with cDNA rescue system showed that the missense variants result in loss-of-function.
Sources: Literature
Mendeliome v0.10024 TAB2 Zornitza Stark Tag SV/CNV tag was added to gene: TAB2.
Mendeliome v0.10024 TAB2 Zornitza Stark Marked gene: TAB2 as ready
Mendeliome v0.10024 TAB2 Zornitza Stark Gene: tab2 has been classified as Green List (High Evidence).
Mendeliome v0.10024 TAB2 Zornitza Stark Phenotypes for gene: TAB2 were changed from to Mitral valve disease, cardiomyopathy, short stature and hypermobility, Noonan syndrome-like; Congenital heart defects, nonsyndromic, 2 (MIM#614980)
Mendeliome v0.10023 TAB2 Zornitza Stark Publications for gene: TAB2 were set to
Mendeliome v0.10022 TAB2 Zornitza Stark Mode of inheritance for gene: TAB2 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.10021 FAAH2 Zornitza Stark Marked gene: FAAH2 as ready
Mendeliome v0.10021 FAAH2 Zornitza Stark Gene: faah2 has been classified as Red List (Low Evidence).
Mendeliome v0.10021 FAAH2 Zornitza Stark Publications for gene: FAAH2 were set to PMID: 34645488
Mendeliome v0.10020 FAAH2 Zornitza Stark Classified gene: FAAH2 as Red List (low evidence)
Mendeliome v0.10020 FAAH2 Zornitza Stark Gene: faah2 has been classified as Red List (Low Evidence).
Mendeliome v0.10019 FOXR1 Paul De Fazio changed review comment from: 1 patient described with a de novo missense variant. Phenotypes include: postnatal microcephaly, progressive brain atrophy, skeletal abnormalities, brain abnormalities, ophthalmic abnormalities, neuromuscular abnornmalities, and dysmorphic features.

In vitro functional evidence is supportive of pathogenicity (variant causes protein instability and abnormal nuclear aggregation).

A mouse knockout has comparable phenotypes, and a severe survival deficit.

Rated amber (1 patient, functional evidence, mouse model).
Sources: Literature; to: 1 patient described with a de novo missense variant. Phenotypes include: postnatal microcephaly, progressive brain atrophy, skeletal abnormalities, brain abnormalities, ophthalmic abnormalities, neuromuscular abnormalities, and dysmorphic features. A variant in ATP1A3 was considered to have contributed to the final phenotype.

In vitro functional evidence is supportive of pathogenicity (variant causes protein instability and abnormal nuclear aggregation).

A mouse knockout has comparable phenotypes, and a severe survival deficit.

Rated amber (1 patient, functional evidence, mouse model).
Sources: Literature
Mendeliome v0.10019 SLIRP Belinda Chong gene: SLIRP was added
gene: SLIRP was added to Mendeliome. Sources: Literature
Mode of inheritance for gene: SLIRP was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SLIRP were set to 34426662
Phenotypes for gene: SLIRP were set to Mitochondrial encephalomyopathy with complex I and IV deficiency
Review for gene: SLIRP was set to RED
Added comment: Single Dutch non-consanguineous patient having mitochondrial encephalomyopathy with complex I and complex IV deficiency, whole exome sequencing revealed two compound heterozygous variants (NM_031210.5:c.248_252del; NP_112487.1:p.(Ile83Argfs*10) and NC_000014.8:g.78177003 A > G; NM_031210.5:c.98-178 A > G) in SLIRP. Report SLIRP variants as a novel cause of mitochondrial encephalomyopathy with OXPHOS deficiency
Sources: Literature
Mendeliome v0.10019 OGDH Zornitza Stark Marked gene: OGDH as ready
Mendeliome v0.10019 OGDH Zornitza Stark Gene: ogdh has been classified as Amber List (Moderate Evidence).
Mendeliome v0.10019 OGDH Zornitza Stark Classified gene: OGDH as Amber List (moderate evidence)
Mendeliome v0.10019 OGDH Zornitza Stark Gene: ogdh has been classified as Amber List (Moderate Evidence).
Mendeliome v0.10018 OGDH Zornitza Stark gene: OGDH was added
gene: OGDH was added to Mendeliome. Sources: Literature
Mode of inheritance for gene: OGDH was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: OGDH were set to 32383294
Phenotypes for gene: OGDH were set to Developmental delay; ataxia; seizure; raised lactate
Review for gene: OGDH was set to AMBER
Added comment: Two siblings reported with homozygous missense variant in this gene and global developmental delay, elevated lactate, ataxia and seizure. Fibroblast analysis and modeling of the mutation in Drosophila were used to evaluate pathogenicity of the variant. Note previous report of an individual with developmental delay, hypotonia, and movement disorders and metabolic decompensation and biochemical evidence of OGDH deficiency but genetic testing not done.
Sources: Literature
Mendeliome v0.10017 FAAH2 Ain Roesley edited their review of gene: FAAH2: Changed publications: 34645488, 25885783
Mendeliome v0.10017 FOXR1 Paul De Fazio gene: FOXR1 was added
gene: FOXR1 was added to Mendeliome. Sources: Literature
Mode of inheritance for gene: FOXR1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: FOXR1 were set to 34723967
Phenotypes for gene: FOXR1 were set to Postnatal microcephaly, progressive brain atrophy and global developmental delay
Review for gene: FOXR1 was set to AMBER
gene: FOXR1 was marked as current diagnostic
Added comment: 1 patient described with a de novo missense variant. Phenotypes include: postnatal microcephaly, progressive brain atrophy, skeletal abnormalities, brain abnormalities, ophthalmic abnormalities, neuromuscular abnornmalities, and dysmorphic features.

In vitro functional evidence is supportive of pathogenicity (variant causes protein instability and abnormal nuclear aggregation).

A mouse knockout has comparable phenotypes, and a severe survival deficit.

Rated amber (1 patient, functional evidence, mouse model).
Sources: Literature
Mendeliome v0.10017 TAB2 Chern Lim reviewed gene: TAB2: Rating: GREEN; Mode of pathogenicity: None; Publications: 34456334; Phenotypes: Mitral valve disease, cardiomyopathy, short stature and hypermobility, Congenital heart defects, nonsyndromic, 2 (MIM#614980); Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes
Mendeliome v0.10017 FAAH2 Ain Roesley changed review comment from: PMID: 34645488;
- 1x nonsense variant inherited from normal mother
- proband presented with a classical Zellweger syndrome phenotype including global developmental delay, seizure disorder, severe hypotonia, failure to thrive, adrenal insufficiency and elevated very long-chain fatty acids and liver enzymes
- this variant has 2 hemizygotes in gnomAD

PMID: 25885783;
- 1x missense inherited from normal mother and absent in normal brother
- presented with autistic features, anxiety, pseudoseizures, ataxia, supranuclear gaze palsy, and isolated learning disabilities
- biochemical studies on patient fibroblasts confirmed a defect in FAAH2 activity resulting in altered levels of endocannabinoid metabolites.
- BUT this variant has 30 hemizygotes in gnomoad
Sources: Literature; to: PMID: 34645488;
- 1x nonsense variant inherited from normal mother
- proband presented with a classical Zellweger syndrome phenotype including global developmental delay, seizure disorder, severe hypotonia, failure to thrive, adrenal insufficiency and elevated very long-chain fatty acids and liver enzymes
- this variant has 2 hemizygotes in gnomAD

PMID: 25885783;
- 1x missense inherited from normal mother and absent in normal brother
- presented with autistic features, anxiety, pseudoseizures, ataxia, supranuclear gaze palsy, and isolated learning disabilities
- biochemical studies on patient fibroblasts confirmed a defect in FAAH2 activity resulting in altered levels of endocannabinoid metabolites.
- BUT this variant has 30 hemizygotes in gnomAD
Sources: Literature
Mendeliome v0.10017 FAAH2 Ain Roesley gene: FAAH2 was added
gene: FAAH2 was added to Mendeliome. Sources: Literature
Mode of inheritance for gene: FAAH2 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Publications for gene: FAAH2 were set to PMID: 34645488
Penetrance for gene: FAAH2 were set to unknown
Review for gene: FAAH2 was set to RED
gene: FAAH2 was marked as current diagnostic
Added comment: PMID: 34645488;
- 1x nonsense variant inherited from normal mother
- proband presented with a classical Zellweger syndrome phenotype including global developmental delay, seizure disorder, severe hypotonia, failure to thrive, adrenal insufficiency and elevated very long-chain fatty acids and liver enzymes
- this variant has 2 hemizygotes in gnomAD

PMID: 25885783;
- 1x missense inherited from normal mother and absent in normal brother
- presented with autistic features, anxiety, pseudoseizures, ataxia, supranuclear gaze palsy, and isolated learning disabilities
- biochemical studies on patient fibroblasts confirmed a defect in FAAH2 activity resulting in altered levels of endocannabinoid metabolites.
- BUT this variant has 30 hemizygotes in gnomoad
Sources: Literature
Mendeliome v0.10017 NT5E Zornitza Stark Marked gene: NT5E as ready
Mendeliome v0.10017 NT5E Zornitza Stark Gene: nt5e has been classified as Green List (High Evidence).
Mendeliome v0.10017 NT5E Zornitza Stark Phenotypes for gene: NT5E were changed from to Calcification of joints and arteries, MIM# 211800
Mendeliome v0.10016 NT5E Zornitza Stark Publications for gene: NT5E were set to
Mendeliome v0.10015 NT5E Zornitza Stark Mode of inheritance for gene: NT5E was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.10014 NT5E Zornitza Stark reviewed gene: NT5E: Rating: GREEN; Mode of pathogenicity: None; Publications: 21288095; Phenotypes: Calcification of joints and arteries, MIM# 211800; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.10014 ARPC4 Bryony Thompson Marked gene: ARPC4 as ready
Mendeliome v0.10014 ARPC4 Bryony Thompson Gene: arpc4 has been classified as Green List (High Evidence).
Mendeliome v0.10014 ARPC4 Bryony Thompson Classified gene: ARPC4 as Green List (high evidence)
Mendeliome v0.10014 ARPC4 Bryony Thompson Gene: arpc4 has been classified as Green List (High Evidence).
Mendeliome v0.10013 ARPC4 Bryony Thompson gene: ARPC4 was added
gene: ARPC4 was added to Mendeliome. Sources: Literature
Mode of inheritance for gene: ARPC4 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: ARPC4 were set to DOI:https://doi.org/10.1016/j.xhgg.2021.100072
Phenotypes for gene: ARPC4 were set to Microcephaly; mild motor delays; significant speech impairment
Review for gene: ARPC4 was set to GREEN
Added comment: 7 affected individuals from 6 families (gonadal mosaicism was confirmed in the mother of the 2 affected siblings) with a recurrent missense variant (NM_005718.4:c.472C>T; p.R158C). The variant was associated with a decreased amount of F-actin in cells from two affected individuals.
Sources: Literature
Mendeliome v0.10012 TNFRSF11A Zornitza Stark Marked gene: TNFRSF11A as ready
Mendeliome v0.10012 TNFRSF11A Zornitza Stark Gene: tnfrsf11a has been classified as Green List (High Evidence).
Mendeliome v0.10012 TNFRSF11A Zornitza Stark Phenotypes for gene: TNFRSF11A were changed from to Osteopetrosis, autosomal recessive 7 - MIM# 612301
Mendeliome v0.10011 TNFRSF11A Zornitza Stark Publications for gene: TNFRSF11A were set to
Mendeliome v0.10010 TNFRSF11A Zornitza Stark Mode of inheritance for gene: TNFRSF11A was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.10009 TNFRSF11A Zornitza Stark reviewed gene: TNFRSF11A: Rating: GREEN; Mode of pathogenicity: None; Publications: 18606301, 32048120; Phenotypes: Osteopetrosis, autosomal recessive 7 - MIM# 612301; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.10009 RNF125 Zornitza Stark Marked gene: RNF125 as ready
Mendeliome v0.10009 RNF125 Zornitza Stark Gene: rnf125 has been classified as Green List (High Evidence).
Mendeliome v0.10009 RNF125 Zornitza Stark Phenotypes for gene: RNF125 were changed from to Tenorio syndrome - MIM# 616260
Mendeliome v0.10008 RNF125 Zornitza Stark Publications for gene: RNF125 were set to
Mendeliome v0.10007 RNF125 Zornitza Stark Mode of inheritance for gene: RNF125 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.10006 RNF125 Zornitza Stark reviewed gene: RNF125: Rating: GREEN; Mode of pathogenicity: None; Publications: 25196541; Phenotypes: Tenorio syndrome - MIM# 616260; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.10006 ERMAP Zornitza Stark Marked gene: ERMAP as ready
Mendeliome v0.10006 ERMAP Zornitza Stark Gene: ermap has been classified as Red List (Low Evidence).
Mendeliome v0.10006 ERMAP Zornitza Stark Phenotypes for gene: ERMAP were changed from to Blood types
Mendeliome v0.10005 ERMAP Zornitza Stark Classified gene: ERMAP as Red List (low evidence)
Mendeliome v0.10005 ERMAP Zornitza Stark Gene: ermap has been classified as Red List (Low Evidence).
Mendeliome v0.10004 UNC93B1 Zornitza Stark Marked gene: UNC93B1 as ready
Mendeliome v0.10004 UNC93B1 Zornitza Stark Gene: unc93b1 has been classified as Amber List (Moderate Evidence).
Mendeliome v0.10004 UNC93B1 Zornitza Stark Phenotypes for gene: UNC93B1 were changed from to Encephalopathy, acute, infection-induced (herpes-specific), susceptibility to, 1
Mendeliome v0.10003 UNC93B1 Zornitza Stark Publications for gene: UNC93B1 were set to
Mendeliome v0.10002 UNC93B1 Zornitza Stark Mode of inheritance for gene: UNC93B1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.10001 UNC93B1 Zornitza Stark Classified gene: UNC93B1 as Amber List (moderate evidence)
Mendeliome v0.10001 UNC93B1 Zornitza Stark Gene: unc93b1 has been classified as Amber List (Moderate Evidence).
Mendeliome v0.10000 UNC93B1 Zornitza Stark reviewed gene: UNC93B1: Rating: AMBER; Mode of pathogenicity: None; Publications: 29768176; Phenotypes: Encephalopathy, acute, infection-induced (herpes-specific), susceptibility to, 1; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.10000 UNC93B1 Zornitza Stark Classified gene: UNC93B1 as Red List (low evidence)
Mendeliome v0.10000 UNC93B1 Zornitza Stark Gene: unc93b1 has been classified as Red List (Low Evidence).
Mendeliome v0.9999 PLS3 Zornitza Stark Marked gene: PLS3 as ready
Mendeliome v0.9999 PLS3 Zornitza Stark Gene: pls3 has been classified as Green List (High Evidence).
Mendeliome v0.9999 PLS3 Zornitza Stark Phenotypes for gene: PLS3 were changed from to Bone mineral density QTL18, osteoporosis - MIM#300910
Mendeliome v0.9998 PLS3 Zornitza Stark Publications for gene: PLS3 were set to
Mendeliome v0.9997 PLS3 Zornitza Stark Mode of inheritance for gene: PLS3 was changed from Unknown to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Mendeliome v0.9996 PLS3 Zornitza Stark reviewed gene: PLS3: Rating: GREEN; Mode of pathogenicity: None; Publications: 32655496, 25209159, 29736964, 29884797, 28777485, 24088043; Phenotypes: Bone mineral density QTL18, osteoporosis - MIM#300910; Mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Mendeliome v0.9996 MMP9 Zornitza Stark Marked gene: MMP9 as ready
Mendeliome v0.9996 MMP9 Zornitza Stark Gene: mmp9 has been classified as Green List (High Evidence).
Mendeliome v0.9996 MMP9 Zornitza Stark Phenotypes for gene: MMP9 were changed from to Metaphyseal anadysplasia 2, MIM# 613073
Mendeliome v0.9995 MMP9 Zornitza Stark Publications for gene: MMP9 were set to
Mendeliome v0.9994 MMP9 Zornitza Stark Mode of inheritance for gene: MMP9 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.9993 MMP9 Zornitza Stark reviewed gene: MMP9: Rating: GREEN; Mode of pathogenicity: None; Publications: 19615667, 28342220, 34407464; Phenotypes: Metaphyseal anadysplasia 2, MIM# 613073; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.9993 ERMAP Lucy Spencer reviewed gene: ERMAP: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Blood types; Mode of inheritance: None
Mendeliome v0.9993 UNC93B1 Lucy Spencer reviewed gene: UNC93B1: Rating: RED; Mode of pathogenicity: None; Publications: PMID: 16973841; Phenotypes: ; Mode of inheritance: None
Mendeliome v0.9993 EDN3 Zornitza Stark Marked gene: EDN3 as ready
Mendeliome v0.9993 EDN3 Zornitza Stark Gene: edn3 has been classified as Green List (High Evidence).
Mendeliome v0.9993 EDN3 Zornitza Stark Phenotypes for gene: EDN3 were changed from to Central hypoventilation syndrome, congenital, MIM# 209880; Waardenburg syndrome, type 4B, MIM# 613265; {Hirschsprung disease, susceptibility to, 4}, MIM# 613712
Mendeliome v0.9992 EDN3 Zornitza Stark Publications for gene: EDN3 were set to
Mendeliome v0.9991 EDN3 Zornitza Stark Mode of inheritance for gene: EDN3 was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Mendeliome v0.9990 EDN3 Zornitza Stark reviewed gene: EDN3: Rating: GREEN; Mode of pathogenicity: None; Publications: 8630502, 11303518, 9359047, 10231870, 30171849, 27370713; Phenotypes: Central hypoventilation syndrome, congenital, MIM# 209880, Waardenburg syndrome, type 4B, MIM# 613265, {Hirschsprung disease, susceptibility to, 4}, MIM# 613712; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Mendeliome v0.9990 DLL3 Zornitza Stark Marked gene: DLL3 as ready
Mendeliome v0.9990 DLL3 Zornitza Stark Gene: dll3 has been classified as Green List (High Evidence).
Mendeliome v0.9990 DLL3 Zornitza Stark Phenotypes for gene: DLL3 were changed from to Spondylocostal dysostosis 1, autosomal recessive, MIM# 277300
Mendeliome v0.9989 DLL3 Zornitza Stark Publications for gene: DLL3 were set to
Mendeliome v0.9988 DLL3 Zornitza Stark Mode of inheritance for gene: DLL3 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.9987 DLL3 Zornitza Stark reviewed gene: DLL3: Rating: GREEN; Mode of pathogenicity: None; Publications: 10742114, 12746394; Phenotypes: Spondylocostal dysostosis 1, autosomal recessive, MIM# 277300; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.9987 SMAD2 Zornitza Stark Publications for gene: SMAD2 were set to 29967133; 29967133; 30157302; 23665959
Mendeliome v0.9986 SMAD2 Zornitza Stark Phenotypes for gene: SMAD2 were changed from Aortic and arterial aneurysmal disease; connective tissue disease to Aortic and arterial aneurysmal disease; connective tissue disease; congenital heart disease
Mendeliome v0.9985 SMAD2 Zornitza Stark Publications for gene: SMAD2 were set to 29967133
Mendeliome v0.9984 CARD10 Zornitza Stark Marked gene: CARD10 as ready
Mendeliome v0.9984 CARD10 Zornitza Stark Gene: card10 has been classified as Red List (Low Evidence).
Mendeliome v0.9984 CARD10 Zornitza Stark gene: CARD10 was added
gene: CARD10 was added to Mendeliome. Sources: Expert list
Mode of inheritance for gene: CARD10 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: CARD10 were set to 32238915
Phenotypes for gene: CARD10 were set to Immunodeficiency 89 and autoimmunity, MIM# 619632
Review for gene: CARD10 was set to RED
Added comment: A pair of siblings reported with adult onset of recurrent infections, allergies, microcytic anaemia, and Crohn disease. Homozygous missense variant.
Sources: Expert list
Mendeliome v0.9983 TBX21 Zornitza Stark Marked gene: TBX21 as ready
Mendeliome v0.9983 TBX21 Zornitza Stark Gene: tbx21 has been classified as Red List (Low Evidence).
Mendeliome v0.9983 TBX21 Zornitza Stark Phenotypes for gene: TBX21 were changed from to Immunodeficiency 88, MIM# 619630; Asthma and nasal polyps, MIM# 208550
Mendeliome v0.9982 TBX21 Zornitza Stark Publications for gene: TBX21 were set to
Mendeliome v0.9981 TBX21 Zornitza Stark Mode of inheritance for gene: TBX21 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.9980 TBX21 Zornitza Stark Classified gene: TBX21 as Red List (low evidence)
Mendeliome v0.9980 TBX21 Zornitza Stark Gene: tbx21 has been classified as Red List (Low Evidence).
Mendeliome v0.9979 TBX21 Zornitza Stark reviewed gene: TBX21: Rating: RED; Mode of pathogenicity: None; Publications: 33296702, 9393345, 15496426, 15806396; Phenotypes: Immunodeficiency 88, MIM# 619630, Asthma and nasal polyps, MIM# 208550; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.9979 SMAD2 Melanie Marty changed review comment from: 9 individuals from 5 families with wide spectrum of autosomal dominant aortic and arterial aneurysmal disease combined with connective tissue disease similar to Marfan syndrome and Loeys-Dietz syndrome.; to: 10 individuals from 5 families with wide spectrum of autosomal dominant aortic and arterial aneurysmal disease combined with connective tissue disease similar to Marfan syndrome and Loeys-Dietz syndrome.
Mendeliome v0.9979 SMAD2 Melanie Marty Deleted their comment
Mendeliome v0.9979 SMAD2 Melanie Marty commented on gene: SMAD2: PMID: 30157302 - Two distinct phenotypes associated with pathogenic variants in SMAD2: complex congenital heart disease with or without laterality defects and other congenital anomalies, and a late-onset vascular phenotype characterized by arterial aneurysms with connective tissue abnormalities. No genotype/phenotype correlation has been established so far.

PMID: 30157302, PMID: 23665959 - 5 individuals reported with the CHD phenotype
Mendeliome v0.9979 SMAD2 Melanie Marty edited their review of gene: SMAD2: Added comment: PMID: 30157302 - Two distinct phenotypes associated with pathogenic variants in SMAD2: complex congenital heart disease with or without laterality defects and other congenital anomalies, and a late-onset vascular phenotype characterized by arterial aneurysms with connective tissue abnormalities. No genotype/phenotype correlation has been established so far.

PMID: 30157302, PMID: 23665959 - 5 individuals reported with the CHD phenotype; Changed publications: 29967133, 30157302, 23665959; Changed phenotypes: Aortic and arterial aneurysmal disease, connective tissue disease, congenital heart disease
Mendeliome v0.9979 DHCR24 Zornitza Stark Marked gene: DHCR24 as ready
Mendeliome v0.9979 DHCR24 Zornitza Stark Gene: dhcr24 has been classified as Green List (High Evidence).
Mendeliome v0.9979 DHCR24 Zornitza Stark Phenotypes for gene: DHCR24 were changed from to Desmosterolosis MIM#602398; Disorders of the metabolism of sterols
Mendeliome v0.9978 DHCR24 Zornitza Stark Publications for gene: DHCR24 were set to
Mendeliome v0.9977 DHCR24 Zornitza Stark Mode of inheritance for gene: DHCR24 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.9976 DHCR24 Zornitza Stark reviewed gene: DHCR24: Rating: GREEN; Mode of pathogenicity: None; Publications: 33524375, 21671375, 12457401, 29175559, 21559050, 29175559; Phenotypes: Desmosterolosis, MIM# 602398; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.9976 EMD Zornitza Stark Marked gene: EMD as ready
Mendeliome v0.9976 EMD Zornitza Stark Gene: emd has been classified as Green List (High Evidence).
Mendeliome v0.9976 EMD Zornitza Stark Phenotypes for gene: EMD were changed from to Emery-Dreifuss muscular dystrophy 1, X-linked MIM#310300
Mendeliome v0.9975 EMD Zornitza Stark Publications for gene: EMD were set to
Mendeliome v0.9974 EMD Zornitza Stark Mode of inheritance for gene: EMD was changed from Unknown to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Mendeliome v0.9973 MTPAP Zornitza Stark Tag founder tag was added to gene: MTPAP.
Mendeliome v0.9973 MTPAP Zornitza Stark Marked gene: MTPAP as ready
Mendeliome v0.9973 MTPAP Zornitza Stark Gene: mtpap has been classified as Green List (High Evidence).
Mendeliome v0.9973 MTPAP Zornitza Stark Phenotypes for gene: MTPAP were changed from to Spastic ataxia 4, autosomal recessive 613672; Lethal encephalopathy
Mendeliome v0.9972 MTPAP Zornitza Stark Publications for gene: MTPAP were set to
Mendeliome v0.9971 MTPAP Zornitza Stark Mode of inheritance for gene: MTPAP was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.9970 MTPAP Zornitza Stark reviewed gene: MTPAP: Rating: GREEN; Mode of pathogenicity: None; Publications: 20970105, 25008111, 26319014, 31779033; Phenotypes: Spastic ataxia 4, autosomal recessive 613672, Lethal encephalopathy; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.9970 EMD Belinda Chong reviewed gene: EMD: Rating: GREEN; Mode of pathogenicity: None; Publications: 21697856 31802929; Phenotypes: Emery-Dreifuss muscular dystrophy 1, X-linked MIM#310300; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females; Current diagnostic: yes
Mendeliome v0.9970 GTPBP3 Zornitza Stark Marked gene: GTPBP3 as ready
Mendeliome v0.9970 GTPBP3 Zornitza Stark Gene: gtpbp3 has been classified as Green List (High Evidence).
Mendeliome v0.9970 GTPBP3 Zornitza Stark Phenotypes for gene: GTPBP3 were changed from to Combined oxidative phosphorylation deficiency 23 MIM#616198
Mendeliome v0.9969 GTPBP3 Zornitza Stark Publications for gene: GTPBP3 were set to
Mendeliome v0.9968 GTPBP3 Zornitza Stark Mode of inheritance for gene: GTPBP3 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.9967 GTPBP3 Zornitza Stark reviewed gene: GTPBP3: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Combined oxidative phosphorylation deficiency 23 MIM#616198; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.9967 GRIP1 Zornitza Stark Marked gene: GRIP1 as ready
Mendeliome v0.9967 GRIP1 Zornitza Stark Gene: grip1 has been classified as Green List (High Evidence).
Mendeliome v0.9967 GRIP1 Zornitza Stark Phenotypes for gene: GRIP1 were changed from to Fraser syndrome 3 MIM#617667; CAKUT
Mendeliome v0.9966 GRIP1 Zornitza Stark Publications for gene: GRIP1 were set to
Mendeliome v0.9965 GRIP1 Zornitza Stark changed review comment from: Typical features include cryptophthalmos, syndactyly, and abnormalities of the respiratory and urogenital tract. At least 5 families reported.; to: Typical features include cryptophthalmos, syndactyly, and abnormalities of the respiratory and urogenital tract. At least 5 families reported.

'Mild' bi-allelic variants also postulated to cause isolated CAKUT, PMID 24700879.
Mendeliome v0.9965 GRIP1 Zornitza Stark edited their review of gene: GRIP1: Changed phenotypes: Fraser syndrome 3 MIM#617667, CAKUT
Mendeliome v0.9965 GRIP1 Zornitza Stark edited their review of gene: GRIP1: Changed publications: 24700879, 24357607, 22510445
Mendeliome v0.9965 GRIP1 Zornitza Stark Mode of inheritance for gene: GRIP1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.9964 GRIP1 Zornitza Stark reviewed gene: GRIP1: Rating: GREEN; Mode of pathogenicity: None; Publications: 24357607, 22510445; Phenotypes: Fraser syndrome 3 MIM#617667; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.9964 GRHL3 Zornitza Stark Marked gene: GRHL3 as ready
Mendeliome v0.9964 GRHL3 Zornitza Stark Gene: grhl3 has been classified as Green List (High Evidence).
Mendeliome v0.9964 GRHL3 Zornitza Stark Phenotypes for gene: GRHL3 were changed from to Van der Woude syndrome 2 MIM#606713
Mendeliome v0.9963 GRHL3 Zornitza Stark Publications for gene: GRHL3 were set to
Mendeliome v0.9962 GRHL3 Zornitza Stark Mode of inheritance for gene: GRHL3 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.9961 GNPTAB Zornitza Stark Marked gene: GNPTAB as ready
Mendeliome v0.9961 GNPTAB Zornitza Stark Gene: gnptab has been classified as Green List (High Evidence).
Mendeliome v0.9961 GNPTAB Zornitza Stark Phenotypes for gene: GNPTAB were changed from to Mucolipidosis II alpha/beta, MIM# 252500; MONDO:0009650; Mucolipidosis III alpha/beta, MIM# 252600; MONDO:0018931
Mendeliome v0.9960 GNPTAB Zornitza Stark Publications for gene: GNPTAB were set to
Mendeliome v0.9959 GNPTAB Zornitza Stark Mode of inheritance for gene: GNPTAB was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.9958 GNPTAB Zornitza Stark reviewed gene: GNPTAB: Rating: GREEN; Mode of pathogenicity: None; Publications: 16465621; Phenotypes: Mucolipidosis II alpha/beta, MIM# 252500, MONDO:0009650, Mucolipidosis III alpha/beta, MIM# 252600, MONDO:0018931; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.9958 AMMECR1 Zornitza Stark Marked gene: AMMECR1 as ready
Mendeliome v0.9958 AMMECR1 Zornitza Stark Gene: ammecr1 has been classified as Green List (High Evidence).
Mendeliome v0.9958 AMMECR1 Zornitza Stark Phenotypes for gene: AMMECR1 were changed from to Midface hypoplasia, hearing impairment, elliptocytosis, and nephrocalcinosis, MIM# 300990
Mendeliome v0.9957 AMMECR1 Zornitza Stark Publications for gene: AMMECR1 were set to
Mendeliome v0.9956 AMMECR1 Zornitza Stark Mode of inheritance for gene: AMMECR1 was changed from Unknown to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Mendeliome v0.9955 AMMECR1 Zornitza Stark reviewed gene: AMMECR1: Rating: GREEN; Mode of pathogenicity: None; Publications: 27811305, 28089922, 29193635; Phenotypes: Midface hypoplasia, hearing impairment, elliptocytosis, and nephrocalcinosis, MIM# 300990; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Mendeliome v0.9955 AMACR Zornitza Stark Marked gene: AMACR as ready
Mendeliome v0.9955 AMACR Zornitza Stark Gene: amacr has been classified as Green List (High Evidence).
Mendeliome v0.9955 AMACR Zornitza Stark Phenotypes for gene: AMACR were changed from to Bile acid synthesis defect, congenital, 4, MIM# 214950; Alpha-methylacyl-CoA racemase deficiency, MIM# 614307
Mendeliome v0.9954 AMACR Zornitza Stark Publications for gene: AMACR were set to
Mendeliome v0.9953 AMACR Zornitza Stark Mode of inheritance for gene: AMACR was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.9952 AMACR Zornitza Stark reviewed gene: AMACR: Rating: GREEN; Mode of pathogenicity: None; Publications: 31951345, 24735479, 12512044, 10655068, 34267495, 33047465; Phenotypes: Bile acid synthesis defect, congenital, 4, MIM# 214950, Alpha-methylacyl-CoA racemase deficiency, MIM# 614307; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.9952 GNPTAB Ain Roesley reviewed gene: GNPTAB: Rating: GREEN; Mode of pathogenicity: None; Publications: 20301728; Phenotypes: Mucolipidosis II alpha/beta MIM#252500, Mucolipidosis III alpha/beta MIM#252600; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Mendeliome v0.9952 NADSYN1 Zornitza Stark Phenotypes for gene: NADSYN1 were changed from Multiple congenital abnormalities; absent kidneys; cardiac; limb; vertebral to Vertebral, cardiac, renal, and limb defects syndrome 3, MONDO:0030077; Vertebral, cardiac, renal, and limb defects syndrome 3, OMIM:618845
Mendeliome v0.9951 NADSYN1 Zornitza Stark edited their review of gene: NADSYN1: Changed phenotypes: Vertebral, cardiac, renal, and limb defects syndrome 3, MONDO:0030077, Vertebral, cardiac, renal, and limb defects syndrome 3, OMIM:618845
Mendeliome v0.9951 GRHL3 Ain Roesley reviewed gene: GRHL3: Rating: ; Mode of pathogenicity: None; Publications: 24360809, 29500247; Phenotypes: Van der Woude syndrome 2 MIM#606713; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes
Mendeliome v0.9951 DMC1 Bryony Thompson Marked gene: DMC1 as ready
Mendeliome v0.9951 DMC1 Bryony Thompson Gene: dmc1 has been classified as Green List (High Evidence).
Mendeliome v0.9951 DMC1 Bryony Thompson Classified gene: DMC1 as Green List (high evidence)
Mendeliome v0.9951 DMC1 Bryony Thompson Gene: dmc1 has been classified as Green List (High Evidence).
Mendeliome v0.9950 DMC1 Bryony Thompson gene: DMC1 was added
gene: DMC1 was added to Mendeliome. Sources: Literature
Mode of inheritance for gene: DMC1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: DMC1 were set to 34794894; 29331980; 9660954; 9660953; 18166824
Phenotypes for gene: DMC1 were set to Primary ovarian insufficiency; non-obstructive azoospermia
Review for gene: DMC1 was set to GREEN
Added comment: PMID: 34515795 - a homozygous frameshift (p. Glu10Asnfs*31) cosegregated with non-obstructive azoospermia in 1 brother and diminished ovarian reserve (not primary ovarian insufficiency) in 2 sisters in a non-consanguineous family. Further homozygous knockout mice study demonstrated total failure of follicle development and spermatogenesis in male mice.
PMID: 29331980 - a homozygous missense (p.Asp36Asn) cosegregated with non-obstructive azoospermia and POI phenotypes in a single family.
PMID: 18166824 - a POI case identified with a homozygous missense (p.Met200Val, 185 homozygotes in gnomAD v2.1), which is too common for a recessive Mendelian disease
PMID: 9660954, 9660953 - both male and female knockout mice are sterile
Sources: Literature
Mendeliome v0.9949 GRIP1 Ain Roesley reviewed gene: GRIP1: Rating: GREEN; Mode of pathogenicity: None; Publications: 27859469, 31982235; Phenotypes: Fraser syndrome 3 MIM#617667; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Mendeliome v0.9949 GTPBP3 Ain Roesley reviewed gene: GTPBP3: Rating: GREEN; Mode of pathogenicity: None; Publications: 34276756, 25434004; Phenotypes: Combined oxidative phosphorylation deficiency 23 MIM#616198; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Mendeliome v0.9949 CPEB1 Bryony Thompson Marked gene: CPEB1 as ready
Mendeliome v0.9949 CPEB1 Bryony Thompson Gene: cpeb1 has been classified as Amber List (Moderate Evidence).
Mendeliome v0.9949 CPEB1 Bryony Thompson Classified gene: CPEB1 as Amber List (moderate evidence)
Mendeliome v0.9949 CPEB1 Bryony Thompson Gene: cpeb1 has been classified as Amber List (Moderate Evidence).
Mendeliome v0.9948 CPEB1 Bryony Thompson gene: CPEB1 was added
gene: CPEB1 was added to Mendeliome. Sources: Literature
SV/CNV tags were added to gene: CPEB1.
Mode of inheritance for gene: CPEB1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: CPEB1 were set to 34794894; 33095795; 32354341; 30689869; 11702780
Phenotypes for gene: CPEB1 were set to Primary ovarian insufficiency
Review for gene: CPEB1 was set to AMBER
Added comment: Large CNVs including CPEB1 mainly reported, but also include BNC1.
PMID: 33095795 - 1 POI case with missense variant p.R87C, which has 101 hets in gnomAD v2.1 (too common for a Mendelian dominantly inherited disease). Also another POI case with an 83.8Kb deletion including CPEB1.
PMID: 32354341 - 1 primary amenorrhea case heterozygous deletion of exons 8-12 of CPEB1
PMID: 30689869 - 6 POI cases (including previously reported) with a 15q25.2 deletion including CPEB1, but also including POI gene BNC1. Also, a homozygous microdeletion involving CPEB1 intron 1 in one case.
PMID: 11702780 - knockout mouse model had vestigial ovaries devoid of oocytes
Sources: Literature
Mendeliome v0.9947 CD44 Zornitza Stark Marked gene: CD44 as ready
Mendeliome v0.9947 CD44 Zornitza Stark Gene: cd44 has been classified as Red List (Low Evidence).
Mendeliome v0.9947 CD44 Zornitza Stark Phenotypes for gene: CD44 were changed from to [Blood group, Indian system] 609027
Mendeliome v0.9946 CD44 Zornitza Stark Classified gene: CD44 as Red List (low evidence)
Mendeliome v0.9946 CD44 Zornitza Stark Gene: cd44 has been classified as Red List (Low Evidence).
Mendeliome v0.9945 CD44 Zornitza Stark reviewed gene: CD44: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: [Blood group, Indian system] 609027; Mode of inheritance: None
Mendeliome v0.9945 MAPKAPK5 Zornitza Stark Publications for gene: MAPKAPK5 were set to 3344202
Mendeliome v0.9944 MAPKAPK5 Zornitza Stark edited their review of gene: MAPKAPK5: Changed publications: 33442026
Mendeliome v0.9944 BCAM Zornitza Stark Marked gene: BCAM as ready
Mendeliome v0.9944 BCAM Zornitza Stark Gene: bcam has been classified as Red List (Low Evidence).
Mendeliome v0.9944 BCAM Zornitza Stark Classified gene: BCAM as Red List (low evidence)
Mendeliome v0.9944 BCAM Zornitza Stark Gene: bcam has been classified as Red List (Low Evidence).
Mendeliome v0.9943 BCAM Zornitza Stark reviewed gene: BCAM: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Mendeliome v0.9943 DDR2 Zornitza Stark Marked gene: DDR2 as ready
Mendeliome v0.9943 DDR2 Zornitza Stark Gene: ddr2 has been classified as Green List (High Evidence).
Mendeliome v0.9943 DDR2 Zornitza Stark Phenotypes for gene: DDR2 were changed from to Spondylometaepiphyseal dysplasia, short limb-hand type, MIM#271665; Warburg-Cinotti syndrome, MIM# 618175
Mendeliome v0.9942 DDR2 Zornitza Stark Publications for gene: DDR2 were set to
Mendeliome v0.9941 DDR2 Zornitza Stark Mode of inheritance for gene: DDR2 was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Mendeliome v0.9940 DDR2 Zornitza Stark reviewed gene: DDR2: Rating: GREEN; Mode of pathogenicity: None; Publications: 19110212, 20223752, 30449416; Phenotypes: Spondylometaepiphyseal dysplasia, short limb-hand type, MIM#271665, Warburg-Cinotti syndrome, MIM# 618175; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Mendeliome v0.9940 PRKG2 Zornitza Stark Phenotypes for gene: PRKG2 were changed from Acromesomelic dysplasia to Acromesomelic dysplasia 4, MIM# 619636; Spondylometaphyseal dysplasia, Pagnamenta type, MIM# 619638
Mendeliome v0.9939 PRKG2 Zornitza Stark edited their review of gene: PRKG2: Changed phenotypes: Acromesomelic dysplasia 4, MIM# 619636, Spondylometaphyseal dysplasia, Pagnamenta type, MIM# 619638
Mendeliome v0.9939 MSX2 Zornitza Stark Marked gene: MSX2 as ready
Mendeliome v0.9939 MSX2 Zornitza Stark Gene: msx2 has been classified as Green List (High Evidence).
Mendeliome v0.9939 MSX2 Zornitza Stark Phenotypes for gene: MSX2 were changed from to Craniosynostosis 2 (MIM#604757); Parietal foramina 1 (MIM#168500); Parietal foramina with cleidocranial dysplasia (MIM#168550)
Mendeliome v0.9938 MSX2 Zornitza Stark Publications for gene: MSX2 were set to
Mendeliome v0.9937 MSX2 Zornitza Stark Mode of inheritance for gene: MSX2 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.9936 AKT2 Zornitza Stark Marked gene: AKT2 as ready
Mendeliome v0.9936 AKT2 Zornitza Stark Gene: akt2 has been classified as Green List (High Evidence).
Mendeliome v0.9936 BNC1 Bryony Thompson Marked gene: BNC1 as ready
Mendeliome v0.9936 BNC1 Bryony Thompson Gene: bnc1 has been classified as Green List (High Evidence).
Mendeliome v0.9936 AKT2 Zornitza Stark Phenotypes for gene: AKT2 were changed from to Hypoinsulinemic hypoglycemia and body hemihypertrophy, MONDO:0009416; Hypoinsulinemic hypoglycemia with hemihypertrophy, OMIM:240900; Diabetes mellitus, type II , MIM#125853
Mendeliome v0.9935 AKT2 Zornitza Stark Publications for gene: AKT2 were set to
Mendeliome v0.9934 AKT2 Zornitza Stark Mode of inheritance for gene: AKT2 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.9933 AKT2 Zornitza Stark reviewed gene: AKT2: Rating: GREEN; Mode of pathogenicity: Other; Publications: 24285683, 21979934, 28502730, 15166380, 19164855; Phenotypes: Hypoinsulinemic hypoglycemia and body hemihypertrophy, MONDO:0009416, Hypoinsulinemic hypoglycemia with hemihypertrophy, OMIM:240900; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.9933 BNC1 Bryony Thompson Classified gene: BNC1 as Green List (high evidence)
Mendeliome v0.9933 BNC1 Bryony Thompson Gene: bnc1 has been classified as Green List (High Evidence).
Mendeliome v0.9932 BNC1 Bryony Thompson gene: BNC1 was added
gene: BNC1 was added to Mendeliome. Sources: Literature
Mode of inheritance for gene: BNC1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: BNC1 were set to 34794894; 30010909; 16624857; 32962729; 32894148; 30689869; 27301361
Phenotypes for gene: BNC1 were set to Premature ovarian failure 16 MIM#618723
Review for gene: BNC1 was set to GREEN
Added comment: PMID: 30010909 - a heterozygous frameshift variant segregates with POF in 6 affected females in a Chinese family. A female mouse model of the human Bnc1 frameshift mutation exhibited infertility.
PMID: 32962729 - 1 POF case with p.Asp575Val (which has 89 hets in gnomAD v2.1) and 1 POF case with biallelic missense variants (p.Asp568Val & p.Leu525Pro).
SCV001364363.1 - 1 POF case submitted by Medical Cytogenetics and Molecular Genetics Laboratory,IRCCS Istituto Auxologico Italiano to ClinVar with NM_001717.4(BNC1):c.2273C>T (p.Thr758Ile)
PMID: 32894148, 30689869, 27301361 - large CNVs involving BNC1 reported in POF cases
PMID: 16624857 - knockdown of the gene in mouse oocytes lead to subfertility
Sources: Literature
Mendeliome v0.9931 ACVR1 Zornitza Stark Phenotypes for gene: ACVR1 were changed from Fibrodysplasia ossificans progressiva, MIM# 135100 to Fibrodysplasia ossificans progressiva, MIM# 135100; Congenital heart disease
Mendeliome v0.9930 ACVR1 Zornitza Stark Publications for gene: ACVR1 were set to 16642017
Mendeliome v0.9929 ACVR1 Zornitza Stark changed review comment from: Fibrodysplasia ossificans progressiva is a rare autosomal dominant disease with complete penetrance involving progressive ossification of skeletal muscle, fascia, tendons, and ligaments. FOP has a prevalence of approximately 1 in 2 million worldwide, and shows no geographic, ethnic, racial, or gender preference. Individuals with FOP appear normal at birth except for great toe abnormalities: the great toes are short, deviated, and monophalangic. Ossification occurs progressively over the course of a lifetime in an inevitable and unpredictable episodic manner.

Multiple unrelated families reported. The R206H variant is recurrent.; to: Fibrodysplasia ossificans progressiva is a rare autosomal dominant disease with complete penetrance involving progressive ossification of skeletal muscle, fascia, tendons, and ligaments. FOP has a prevalence of approximately 1 in 2 million worldwide, and shows no geographic, ethnic, racial, or gender preference. Individuals with FOP appear normal at birth except for great toe abnormalities: the great toes are short, deviated, and monophalangic. Ossification occurs progressively over the course of a lifetime in an inevitable and unpredictable episodic manner.

Multiple unrelated families reported. The R206H variant is recurrent.

Note variants in this gene are also associated with congenital heart disease, PMID 29089047.
Mendeliome v0.9929 ACVR1 Zornitza Stark edited their review of gene: ACVR1: Changed publications: 16642017, 29089047; Changed phenotypes: Fibrodysplasia ossificans progressiva, MIM# 135100, Congenital heart disease
Mendeliome v0.9929 MSX2 Daniel Flanagan reviewed gene: MSX2: Rating: GREEN; Mode of pathogenicity: None; Publications: 23949913, 27884935, 23918290, 2359311, 22948472, 19533795, 10742103, 14571277; Phenotypes: Craniosynostosis 2 (MIM#604757), Parietal foramina 1 (MIM#168500), Parietal foramina with cleidocranial dysplasia (MIM#168550); Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.9929 ACVR1 Zornitza Stark Marked gene: ACVR1 as ready
Mendeliome v0.9929 ACVR1 Zornitza Stark Gene: acvr1 has been classified as Green List (High Evidence).
Mendeliome v0.9929 ACVR1 Zornitza Stark Phenotypes for gene: ACVR1 were changed from to Fibrodysplasia ossificans progressiva, MIM# 135100
Mendeliome v0.9928 ACVR1 Zornitza Stark Publications for gene: ACVR1 were set to
Mendeliome v0.9927 ACVR1 Zornitza Stark Mode of inheritance for gene: ACVR1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.9926 ACVR1 Zornitza Stark reviewed gene: ACVR1: Rating: GREEN; Mode of pathogenicity: None; Publications: 16642017; Phenotypes: Fibrodysplasia ossificans progressiva, MIM# 135100; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.9926 MOCS2 Zornitza Stark Marked gene: MOCS2 as ready
Mendeliome v0.9926 MOCS2 Zornitza Stark Gene: mocs2 has been classified as Green List (High Evidence).
Mendeliome v0.9926 MOCS2 Zornitza Stark Phenotypes for gene: MOCS2 were changed from to Molybdenum cofactor deficiency B MIM#252160; Disorders of molybdenum cofactor metabolism
Mendeliome v0.9925 MOCS2 Zornitza Stark Publications for gene: MOCS2 were set to
Mendeliome v0.9924 MOCS2 Zornitza Stark Mode of inheritance for gene: MOCS2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.9923 ANKRD31 Bryony Thompson Marked gene: ANKRD31 as ready
Mendeliome v0.9923 ANKRD31 Bryony Thompson Gene: ankrd31 has been classified as Green List (High Evidence).
Mendeliome v0.9923 ANKRD31 Bryony Thompson Classified gene: ANKRD31 as Green List (high evidence)
Mendeliome v0.9923 ANKRD31 Bryony Thompson Gene: ankrd31 has been classified as Green List (High Evidence).
Mendeliome v0.9922 ANKRD31 Bryony Thompson gene: ANKRD31 was added
gene: ANKRD31 was added to Mendeliome. Sources: Literature
Mode of inheritance for gene: ANKRD31 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: ANKRD31 were set to 34794894; 34257419; 31003867
Phenotypes for gene: ANKRD31 were set to Premature ovarian failure
Review for gene: ANKRD31 was set to GREEN
Added comment: Three unrelated cases with premature ovarian failure and loss of function variants (2 with c.985C>T, p.Gln329* and 1 with c.1565-2A>G). Ankrd31-deficient female mouse model has reduced oocyte reserves.
Sources: Literature
Mendeliome v0.9921 ACO2 Zornitza Stark Marked gene: ACO2 as ready
Mendeliome v0.9921 ACO2 Zornitza Stark Gene: aco2 has been classified as Green List (High Evidence).
Mendeliome v0.9921 ACO2 Zornitza Stark Phenotypes for gene: ACO2 were changed from to Infantile cerebellar-retinal degeneration, MIM#614559; Optic atrophy 9, MIM# 616289
Mendeliome v0.9920 ACO2 Zornitza Stark Publications for gene: ACO2 were set to
Mendeliome v0.9919 ACO2 Zornitza Stark Mode of inheritance for gene: ACO2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.9918 ACO2 Zornitza Stark Deleted their comment
Mendeliome v0.9918 ACO2 Zornitza Stark edited their review of gene: ACO2: Changed phenotypes: Infantile cerebellar-retinal degeneration, MIM#614559, Optic atrophy 9, MIM# 616289
Mendeliome v0.9918 ACO2 Zornitza Stark edited their review of gene: ACO2: Added comment: At least 10 unrelated families reported. I am not convinced this gene causes two separate disorders, more likely a spectrum. OA has been reported as an isolated finding in one family, and a feature of a more complex and severe neurological presentation in the rest.; Changed publications: 22405087, 25351951, 30689204, 32519519, 25351951
Mendeliome v0.9918 ACO2 Zornitza Stark edited their review of gene: ACO2: Changed publications: 22405087, 25351951, 30689204, 32519519
Mendeliome v0.9918 DAZL Bryony Thompson Marked gene: DAZL as ready
Mendeliome v0.9918 DAZL Bryony Thompson Gene: dazl has been classified as Amber List (Moderate Evidence).
Mendeliome v0.9918 DAZL Bryony Thompson Classified gene: DAZL as Amber List (moderate evidence)
Mendeliome v0.9918 DAZL Bryony Thompson Gene: dazl has been classified as Amber List (Moderate Evidence).
Mendeliome v0.9917 DAZL Bryony Thompson gene: DAZL was added
gene: DAZL was added to Mendeliome. Sources: Literature
Mode of inheritance for gene: DAZL was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: DAZL were set to 34794894; 33095795; 16884537; 9288969
Phenotypes for gene: DAZL were set to Primary ovarian insufficiency
Review for gene: DAZL was set to AMBER
Added comment: PMID: 33095795 - Single POI case with heterozygous stopgain (c.640C>T:p.Q214*).
PMID: 16884537 - 4 heterozygous unrelated early menopause/POI cases with heterozygous missense (all rare in gnomAD v2.1, except p.Asn10His which has 14 hets)
PMID: 9288969 - supporting knockout mouse model
Sources: Literature
Mendeliome v0.9916 DAG1 Zornitza Stark Publications for gene: DAG1 were set to 29337005; 25503980
Mendeliome v0.9915 DAG1 Zornitza Stark reviewed gene: DAG1: Rating: GREEN; Mode of pathogenicity: None; Publications: 21388311, 25934851, 24052401, 25503980; Phenotypes: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 9, Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 9, 613818, Walker-Warburg syndrome and tectocerebellar dysgraphia; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.9915 CYP17A1 Zornitza Stark Marked gene: CYP17A1 as ready
Mendeliome v0.9915 CYP17A1 Zornitza Stark Gene: cyp17a1 has been classified as Green List (High Evidence).
Mendeliome v0.9915 CYP17A1 Zornitza Stark Phenotypes for gene: CYP17A1 were changed from to 17-alpha-hydroxylase/17,20-lyase deficiency, MIM# 202110
Mendeliome v0.9914 CYP17A1 Zornitza Stark Publications for gene: CYP17A1 were set to
Mendeliome v0.9913 CYP17A1 Zornitza Stark Mode of inheritance for gene: CYP17A1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.9912 CYP17A1 Zornitza Stark reviewed gene: CYP17A1: Rating: GREEN; Mode of pathogenicity: None; Publications: 2843762, 14671162, 2026124; Phenotypes: 17-alpha-hydroxylase/17,20-lyase deficiency, MIM# 202110; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.9912 CYP11B1 Zornitza Stark Marked gene: CYP11B1 as ready
Mendeliome v0.9912 CYP11B1 Zornitza Stark Gene: cyp11b1 has been classified as Green List (High Evidence).
Mendeliome v0.9912 CYP11B1 Zornitza Stark Phenotypes for gene: CYP11B1 were changed from to Adrenal hyperplasia, congenital, due to 11-beta-hydroxylase deficiency, MIM# 202010; Aldosteronism, glucocorticoid-remediable, MIM# 103900
Mendeliome v0.9911 CYP11B1 Zornitza Stark Publications for gene: CYP11B1 were set to
Mendeliome v0.9910 CYP11B1 Zornitza Stark Mode of inheritance for gene: CYP11B1 was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Mendeliome v0.9909 CYP11B1 Zornitza Stark reviewed gene: CYP11B1: Rating: GREEN; Mode of pathogenicity: None; Publications: 8768848, 1731223, 29703198; Phenotypes: Adrenal hyperplasia, congenital, due to 11-beta-hydroxylase deficiency, MIM# 202010, Aldosteronism, glucocorticoid-remediable, MIM# 103900; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Mendeliome v0.9909 CYP11A1 Zornitza Stark Marked gene: CYP11A1 as ready
Mendeliome v0.9909 CYP11A1 Zornitza Stark Gene: cyp11a1 has been classified as Green List (High Evidence).
Mendeliome v0.9909 CYP11A1 Zornitza Stark Phenotypes for gene: CYP11A1 were changed from to Adrenal insufficiency, congenital, with 46XY sex reversal, partial or complete, MIM# 613743
Mendeliome v0.9908 CYP11A1 Zornitza Stark Publications for gene: CYP11A1 were set to
Mendeliome v0.9907 CYP11A1 Zornitza Stark Mode of inheritance for gene: CYP11A1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.9906 CYP11A1 Zornitza Stark reviewed gene: CYP11A1: Rating: GREEN; Mode of pathogenicity: None; Publications: 12161514, 16705068, 18182448, 28425981; Phenotypes: Adrenal insufficiency, congenital, with 46XY sex reversal, partial or complete, MIM# 613743; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.9906 CWC27 Zornitza Stark Marked gene: CWC27 as ready
Mendeliome v0.9906 CWC27 Zornitza Stark Gene: cwc27 has been classified as Green List (High Evidence).
Mendeliome v0.9906 CWC27 Zornitza Stark Phenotypes for gene: CWC27 were changed from to Retinitis pigmentosa with or without skeletal anomalies, MIM# 250410
Mendeliome v0.9905 CWC27 Zornitza Stark Publications for gene: CWC27 were set to
Mendeliome v0.9904 CWC27 Zornitza Stark Mode of inheritance for gene: CWC27 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.9903 CWC27 Zornitza Stark reviewed gene: CWC27: Rating: GREEN; Mode of pathogenicity: None; Publications: 28285769, 31481716; Phenotypes: Retinitis pigmentosa with or without skeletal anomalies, MIM# 250410; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.9903 PPIB Zornitza Stark Marked gene: PPIB as ready
Mendeliome v0.9903 PPIB Zornitza Stark Gene: ppib has been classified as Green List (High Evidence).
Mendeliome v0.9903 PPIB Zornitza Stark Phenotypes for gene: PPIB were changed from to Osteogenesis imperfecta, type IX, MIM# 259440
Mendeliome v0.9902 PPIB Zornitza Stark Publications for gene: PPIB were set to
Mendeliome v0.9901 PPIB Zornitza Stark Mode of inheritance for gene: PPIB was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.9900 PPIB Zornitza Stark reviewed gene: PPIB: Rating: GREEN; Mode of pathogenicity: None; Publications: 19781681, 32392875; Phenotypes: Osteogenesis imperfecta, type IX, MIM# 259440; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.9900 POLR3H Bryony Thompson Marked gene: POLR3H as ready
Mendeliome v0.9900 POLR3H Bryony Thompson Gene: polr3h has been classified as Amber List (Moderate Evidence).
Mendeliome v0.9900 POLR3H Bryony Thompson Classified gene: POLR3H as Amber List (moderate evidence)
Mendeliome v0.9900 POLR3H Bryony Thompson Gene: polr3h has been classified as Amber List (Moderate Evidence).
Mendeliome v0.9899 POLR3H Bryony Thompson gene: POLR3H was added
gene: POLR3H was added to Mendeliome. Sources: Literature
Mode of inheritance for gene: POLR3H was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: POLR3H were set to 34794894; 30830215
Phenotypes for gene: POLR3H were set to Primary ovarian insufficiency
Review for gene: POLR3H was set to AMBER
Added comment: A homozygous missense variant (p.Asp50Gly) was identified homozygous in 2 unrelated families. A mull mouse model was embryonic lethal, but a mouse model homozygous for the missense were viable and showed delayed pubertal development, characterised by late first oestrus or preputial separation.
Sources: Literature
Mendeliome v0.9898 POLR2C Bryony Thompson Marked gene: POLR2C as ready
Mendeliome v0.9898 POLR2C Bryony Thompson Gene: polr2c has been classified as Amber List (Moderate Evidence).
Mendeliome v0.9898 POLR2C Bryony Thompson Classified gene: POLR2C as Amber List (moderate evidence)
Mendeliome v0.9898 POLR2C Bryony Thompson Gene: polr2c has been classified as Amber List (Moderate Evidence).
Mendeliome v0.9897 POLR2C Bryony Thompson gene: POLR2C was added
gene: POLR2C was added to Mendeliome. Sources: Literature
Mode of inheritance for gene: POLR2C was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: POLR2C were set to 34794894; 29367954
Phenotypes for gene: POLR2C were set to Primary ovarian insufficiency
Review for gene: POLR2C was set to AMBER
Added comment: One family with POI segregating a nonsense variant (p.Lys152Ter) and a case with sporadic POI with a splice region variant (c.206-3C>T). Knockdown of the gene in an embryonic carcinoma cell line resulted in decreased protein production and impaired cell proliferation.
Two missense in premature ovarian failure cases submitted to ClinVar by Shandong Provincial Hospital Affiliated to Shandong University (SCV001877131.1, SCV001877153.1).
Sources: Literature
Mendeliome v0.9896 ELAC2 Zornitza Stark Marked gene: ELAC2 as ready
Mendeliome v0.9896 ELAC2 Zornitza Stark Gene: elac2 has been classified as Green List (High Evidence).
Mendeliome v0.9896 ELAC2 Zornitza Stark Phenotypes for gene: ELAC2 were changed from to Combined oxidative phosphorylation deficiency 17, MIM#615440
Mendeliome v0.9895 ELAC2 Zornitza Stark Publications for gene: ELAC2 were set to
Mendeliome v0.9894 ELAC2 Zornitza Stark Mode of inheritance for gene: ELAC2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.9893 ELAC2 Zornitza Stark reviewed gene: ELAC2: Rating: GREEN; Mode of pathogenicity: None; Publications: 23849775, 31045291; Phenotypes: Combined oxidative phosphorylation deficiency 17, MIM#615440; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.9893 KHDRBS1 Bryony Thompson Marked gene: KHDRBS1 as ready
Mendeliome v0.9893 KHDRBS1 Bryony Thompson Gene: khdrbs1 has been classified as Green List (High Evidence).
Mendeliome v0.9893 KHDRBS1 Bryony Thompson Classified gene: KHDRBS1 as Green List (high evidence)
Mendeliome v0.9893 KHDRBS1 Bryony Thompson Gene: khdrbs1 has been classified as Green List (High Evidence).
Mendeliome v0.9892 KHDRBS1 Bryony Thompson gene: KHDRBS1 was added
gene: KHDRBS1 was added to Mendeliome. Sources: Literature
Mode of inheritance for gene: KHDRBS1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: KHDRBS1 were set to 34794894; 29808484; 28938739; 20881015
Phenotypes for gene: KHDRBS1 were set to Premature ovarian failure
Review for gene: KHDRBS1 was set to GREEN
Added comment: 4 cases in 3 unrelated families and a supporting mouse model
PMID: 28938739 - missense (c.460A > G, p.M154V) identified in a Chinese mother and daughter with POI, and another missense (c.263C > T, p.P88L) identified in an idiopathic POI case.
SCV001364312.1 - case with POI and missense (p.Pro421Leu) submitted by an Italian institute (ClinVar ID: 929733)
PMID: 29808484 - missense (p.Pro296Leu) identified in a POI case, which also has a heterozygous missense in FGFR2. There are 12 hets with Pro296Leu in gnomAD v2.1. This case is not included in the final case count.
PMID: 20881015 - supporting null mouse model. Female mice were subfertile.
Sources: Literature
Mendeliome v0.9891 CUL4B Zornitza Stark Marked gene: CUL4B as ready
Mendeliome v0.9891 CUL4B Zornitza Stark Gene: cul4b has been classified as Green List (High Evidence).
Mendeliome v0.9891 CUL4B Zornitza Stark Phenotypes for gene: CUL4B were changed from to Mental retardation, X-linked, syndromic 15 (Cabezas type), MIM# 300354
Mendeliome v0.9890 CUL4B Zornitza Stark Publications for gene: CUL4B were set to
Mendeliome v0.9889 CUL4B Zornitza Stark Mode of inheritance for gene: CUL4B was changed from Unknown to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Mendeliome v0.9888 CUL4B Zornitza Stark reviewed gene: CUL4B: Rating: GREEN; Mode of pathogenicity: None; Publications: 17236139, 19377476; Phenotypes: Mental retardation, X-linked, syndromic 15 (Cabezas type), MIM# 300354; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Mendeliome v0.9888 CTSK Zornitza Stark Marked gene: CTSK as ready
Mendeliome v0.9888 CTSK Zornitza Stark Gene: ctsk has been classified as Green List (High Evidence).
Mendeliome v0.9888 CTSK Zornitza Stark Phenotypes for gene: CTSK were changed from to Pycnodysostosis, MIM# 265800
Mendeliome v0.9887 CTSK Zornitza Stark Mode of inheritance for gene: CTSK was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.9886 CTSK Zornitza Stark reviewed gene: CTSK: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Pycnodysostosis, MIM# 265800; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.9886 CTCF Zornitza Stark Marked gene: CTCF as ready
Mendeliome v0.9886 CTCF Zornitza Stark Gene: ctcf has been classified as Green List (High Evidence).
Mendeliome v0.9886 CTCF Zornitza Stark Phenotypes for gene: CTCF were changed from to Mental retardation, autosomal dominant 21 (MIM#615502)
Mendeliome v0.9885 CTCF Zornitza Stark Publications for gene: CTCF were set to
Mendeliome v0.9884 CTCF Zornitza Stark Mode of inheritance for gene: CTCF was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.9883 CTCF Zornitza Stark reviewed gene: CTCF: Rating: GREEN; Mode of pathogenicity: None; Publications: 23746550, 31239556; Phenotypes: Mental retardation, autosomal dominant 21 (MIM#615502); Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.9883 CSNK2A1 Zornitza Stark Marked gene: CSNK2A1 as ready
Mendeliome v0.9883 CSNK2A1 Zornitza Stark Gene: csnk2a1 has been classified as Green List (High Evidence).
Mendeliome v0.9883 CSNK2A1 Zornitza Stark Phenotypes for gene: CSNK2A1 were changed from to Okur-Chung neurodevelopmental syndrome, MIM# 617062
Mendeliome v0.9882 CSNK2A1 Zornitza Stark Publications for gene: CSNK2A1 were set to
Mendeliome v0.9881 CSNK2A1 Zornitza Stark Mode of inheritance for gene: CSNK2A1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.9880 CSNK2A1 Zornitza Stark reviewed gene: CSNK2A1: Rating: GREEN; Mode of pathogenicity: None; Publications: 27048600, 29240241, 29383814; Phenotypes: Okur-Chung neurodevelopmental syndrome, MIM# 617062; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.9880 CRYGD Zornitza Stark Marked gene: CRYGD as ready
Mendeliome v0.9880 CRYGD Zornitza Stark Gene: crygd has been classified as Green List (High Evidence).
Mendeliome v0.9880 CRYGD Zornitza Stark Phenotypes for gene: CRYGD were changed from to Cataract 4, multiple types, MIM# 115700
Mendeliome v0.9879 CRYGD Zornitza Stark Publications for gene: CRYGD were set to
Mendeliome v0.9878 CRYGD Zornitza Stark Mode of inheritance for gene: CRYGD was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.9877 CRYGD Zornitza Stark reviewed gene: CRYGD: Rating: GREEN; Mode of pathogenicity: None; Publications: 9927684, 10915766, 12676897, 17724170; Phenotypes: Cataract 4, multiple types, MIM# 115700; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.9877 CRYGC Zornitza Stark Marked gene: CRYGC as ready
Mendeliome v0.9877 CRYGC Zornitza Stark Gene: crygc has been classified as Green List (High Evidence).
Mendeliome v0.9877 CRYGC Zornitza Stark Phenotypes for gene: CRYGC were changed from to Cataract 2, multiple types, MIM# 604307
Mendeliome v0.9876 CRYGC Zornitza Stark Publications for gene: CRYGC were set to
Mendeliome v0.9875 CRYGC Zornitza Stark Mode of inheritance for gene: CRYGC was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.9874 CRYGC Zornitza Stark reviewed gene: CRYGC: Rating: GREEN; Mode of pathogenicity: None; Publications: 10521291, 10914683, 12011157, 19204787, 22052681; Phenotypes: Cataract 2, multiple types, MIM# 604307; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.9874 CRYBB3 Zornitza Stark Marked gene: CRYBB3 as ready
Mendeliome v0.9874 CRYBB3 Zornitza Stark Gene: crybb3 has been classified as Green List (High Evidence).
Mendeliome v0.9874 CRYBB3 Zornitza Stark Phenotypes for gene: CRYBB3 were changed from to Cataract 22, MIM# 609741
Mendeliome v0.9873 CRYBB3 Zornitza Stark Publications for gene: CRYBB3 were set to
Mendeliome v0.9872 CRYBB3 Zornitza Stark Mode of inheritance for gene: CRYBB3 was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Mendeliome v0.9871 CRYBB3 Zornitza Stark reviewed gene: CRYBB3: Rating: GREEN; Mode of pathogenicity: None; Publications: 15914629, 23508780, 34356085, 33594837, 33510601; Phenotypes: Cataract 22, MIM# 609741; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Mendeliome v0.9871 CRYBB2 Zornitza Stark Marked gene: CRYBB2 as ready
Mendeliome v0.9871 CRYBB2 Zornitza Stark Gene: crybb2 has been classified as Green List (High Evidence).
Mendeliome v0.9871 CRYBB2 Zornitza Stark Phenotypes for gene: CRYBB2 were changed from to Cataract 3, multiple types, MIM# 601547
Mendeliome v0.9870 CRYBB2 Zornitza Stark Publications for gene: CRYBB2 were set to
Mendeliome v0.9869 CRYBB2 Zornitza Stark Mode of inheritance for gene: CRYBB2 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.9868 CRYBB2 Zornitza Stark reviewed gene: CRYBB2: Rating: GREEN; Mode of pathogenicity: None; Publications: 9158139, 10634616, 11424921, 17234267; Phenotypes: Cataract 3, multiple types, MIM# 601547; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.9868 CRYBB1 Zornitza Stark Marked gene: CRYBB1 as ready
Mendeliome v0.9868 CRYBB1 Zornitza Stark Gene: crybb1 has been classified as Green List (High Evidence).
Mendeliome v0.9868 CRYBB1 Zornitza Stark Phenotypes for gene: CRYBB1 were changed from to Cataract 17, multiple types, MIM# 611544
Mendeliome v0.9867 CRYBB1 Zornitza Stark Publications for gene: CRYBB1 were set to
Mendeliome v0.9866 CRYBB1 Zornitza Stark Mode of inheritance for gene: CRYBB1 was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Mendeliome v0.9865 CRYBB1 Zornitza Stark reviewed gene: CRYBB1: Rating: GREEN; Mode of pathogenicity: None; Publications: 12360425, 16110300, 17460281, 21972112; Phenotypes: Cataract 17, multiple types, MIM# 611544; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Mendeliome v0.9865 TNFAIP3 Zornitza Stark Marked gene: TNFAIP3 as ready
Mendeliome v0.9865 TNFAIP3 Zornitza Stark Gene: tnfaip3 has been classified as Green List (High Evidence).
Mendeliome v0.9865 TNFAIP3 Zornitza Stark Phenotypes for gene: TNFAIP3 were changed from to Autoinflammatory syndrome, familial, Behcet-like, MIM# 616744; Inflammatory bowel disease
Mendeliome v0.9864 TNFAIP3 Zornitza Stark Publications for gene: TNFAIP3 were set to
Mendeliome v0.9863 TNFAIP3 Zornitza Stark Mode of inheritance for gene: TNFAIP3 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.9862 TNFAIP3 Zornitza Stark reviewed gene: TNFAIP3: Rating: GREEN; Mode of pathogenicity: None; Publications: 26642243, 34030699, 33446651, 32521965, 31299923; Phenotypes: Autoinflammatory syndrome, familial, Behcet-like, MIM# 616744, Inflammatory bowel disease; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.9862 SFTPA1 Zornitza Stark Phenotypes for gene: SFTPA1 were changed from Idiopathic pulmonary fibrosis to Idiopathic pulmonary fibrosis; Interstitial lung disease 1, MIM# 619611
Mendeliome v0.9861 SFTPA1 Zornitza Stark edited their review of gene: SFTPA1: Changed phenotypes: Idiopathic pulmonary fibrosis, Interstitial lung disease 1, MIM# 619611
Mendeliome v0.9861 PI4KA Zornitza Stark Phenotypes for gene: PI4KA were changed from Polymicrogyria, perisylvian, with cerebellar hypoplasia and arthrogryposis, MIM# 616531; Neurodevelopmental syndrome with hypomyelinating leukodystrophy to Polymicrogyria, perisylvian, with cerebellar hypoplasia and arthrogryposis, MIM# 616531; Neurodevelopmental syndrome with hypomyelinating leukodystrophy; Spastic paraplegia 84, autosomal recessive, MIM# 619621
Mendeliome v0.9860 PI4KA Zornitza Stark edited their review of gene: PI4KA: Changed phenotypes: Polymicrogyria, perisylvian, with cerebellar hypoplasia and arthrogryposis, MIM# 616531, Neurodevelopmental syndrome with hypomyelinating leukodystrophy, Spastic paraplegia 84, autosomal recessive, MIM# 619621
Mendeliome v0.9860 UCP2 Zornitza Stark Marked gene: UCP2 as ready
Mendeliome v0.9860 UCP2 Zornitza Stark Gene: ucp2 has been classified as Amber List (Moderate Evidence).
Mendeliome v0.9860 UCP2 Zornitza Stark Phenotypes for gene: UCP2 were changed from to {Obesity, susceptibility to, BMIQ4} 607447; Hyperinsulinism
Mendeliome v0.9859 UCP2 Zornitza Stark Publications for gene: UCP2 were set to
Mendeliome v0.9858 UCP2 Zornitza Stark Mode of inheritance for gene: UCP2 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.9857 UCP2 Zornitza Stark Classified gene: UCP2 as Amber List (moderate evidence)
Mendeliome v0.9857 UCP2 Zornitza Stark Gene: ucp2 has been classified as Amber List (Moderate Evidence).
Mendeliome v0.9856 UCP2 Zornitza Stark reviewed gene: UCP2: Rating: AMBER; Mode of pathogenicity: None; Publications: 19065272, 11381268; Phenotypes: {Obesity, susceptibility to, BMIQ4} 607447, Hyperinsulinism; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.9856 CRYBA4 Zornitza Stark Marked gene: CRYBA4 as ready
Mendeliome v0.9856 CRYBA4 Zornitza Stark Gene: cryba4 has been classified as Green List (High Evidence).
Mendeliome v0.9856 CRYBA4 Zornitza Stark Phenotypes for gene: CRYBA4 were changed from to Cataract 23, MIM# 610425
Mendeliome v0.9855 CRYBA4 Zornitza Stark Publications for gene: CRYBA4 were set to
Mendeliome v0.9854 CRYBA4 Zornitza Stark Mode of inheritance for gene: CRYBA4 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.9853 CRYBA4 Zornitza Stark reviewed gene: CRYBA4: Rating: GREEN; Mode of pathogenicity: None; Publications: 16960806, 16960806, 20577656; Phenotypes: Cataract 23, MIM# 610425; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.9853 CRYBA1 Zornitza Stark Marked gene: CRYBA1 as ready
Mendeliome v0.9853 CRYBA1 Zornitza Stark Gene: cryba1 has been classified as Green List (High Evidence).
Mendeliome v0.9853 CRYBA1 Zornitza Stark Phenotypes for gene: CRYBA1 were changed from to Cataract 10, multiple types, MIM# 600881
Mendeliome v0.9852 CRYBA1 Zornitza Stark Publications for gene: CRYBA1 were set to
Mendeliome v0.9851 CRYBA1 Zornitza Stark Mode of inheritance for gene: CRYBA1 was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.9851 CRYBA1 Zornitza Stark Mode of inheritance for gene: CRYBA1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.9850 CRYBA1 Zornitza Stark reviewed gene: CRYBA1: Rating: GREEN; Mode of pathogenicity: None; Publications: 9788845, 14598164, 34419537, 33827296, 31488069; Phenotypes: Cataract 10, multiple types, MIM# 600881; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.9850 CRYAA Zornitza Stark Marked gene: CRYAA as ready
Mendeliome v0.9850 CRYAA Zornitza Stark Gene: cryaa has been classified as Green List (High Evidence).
Mendeliome v0.9850 CRYAA Zornitza Stark Phenotypes for gene: CRYAA were changed from to Cataract 9, multiple types, MIM# 604219
Mendeliome v0.9849 CRYAA Zornitza Stark Publications for gene: CRYAA were set to
Mendeliome v0.9848 CRYAA Zornitza Stark Mode of inheritance for gene: CRYAA was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Mendeliome v0.9847 CRYAA Zornitza Stark reviewed gene: CRYAA: Rating: GREEN; Mode of pathogenicity: None; Publications: 9467006, 11006246, 16735993, 17724170, 23255486; Phenotypes: Cataract 9, multiple types, MIM# 604219; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Mendeliome v0.9847 CALU Zornitza Stark Marked gene: CALU as ready
Mendeliome v0.9847 CALU Zornitza Stark Gene: calu has been classified as Red List (Low Evidence).
Mendeliome v0.9847 CALU Zornitza Stark Classified gene: CALU as Red List (low evidence)
Mendeliome v0.9847 CALU Zornitza Stark Gene: calu has been classified as Red List (Low Evidence).
Mendeliome v0.9846 CALU Ain Roesley reviewed gene: CALU: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None; Current diagnostic: yes
Mendeliome v0.9846 EDNRA Zornitza Stark Marked gene: EDNRA as ready
Mendeliome v0.9846 EDNRA Zornitza Stark Gene: ednra has been classified as Green List (High Evidence).
Mendeliome v0.9846 EDNRA Zornitza Stark Phenotypes for gene: EDNRA were changed from to Mandibulofacial dysostosis with alopecia, MIM# 616367
Mendeliome v0.9845 EDNRA Zornitza Stark Publications for gene: EDNRA were set to
Mendeliome v0.9844 EDNRA Zornitza Stark Mode of inheritance for gene: EDNRA was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.9843 EDNRA Zornitza Stark reviewed gene: EDNRA: Rating: GREEN; Mode of pathogenicity: None; Publications: 25772936, 27671791; Phenotypes: Mandibulofacial dysostosis with alopecia, MIM# 616367; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.9843 DVL3 Zornitza Stark Marked gene: DVL3 as ready
Mendeliome v0.9843 DVL3 Zornitza Stark Gene: dvl3 has been classified as Green List (High Evidence).
Mendeliome v0.9843 DVL3 Zornitza Stark Phenotypes for gene: DVL3 were changed from to Robinow syndrome, autosomal dominant 3 MIM#616894
Mendeliome v0.9842 DVL3 Zornitza Stark Publications for gene: DVL3 were set to
Mendeliome v0.9841 DVL3 Zornitza Stark Mode of inheritance for gene: DVL3 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.9840 DVL3 Zornitza Stark reviewed gene: DVL3: Rating: GREEN; Mode of pathogenicity: None; Publications: 26924530; Phenotypes: Robinow syndrome, autosomal dominant 3 MIM#616894; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.9840 IRF6 Zornitza Stark Marked gene: IRF6 as ready
Mendeliome v0.9840 IRF6 Zornitza Stark Gene: irf6 has been classified as Green List (High Evidence).
Mendeliome v0.9840 IRF6 Zornitza Stark Phenotypes for gene: IRF6 were changed from Popliteal pterygium syndrome 1MIM#119500; van der Woude syndrome MIM#119300 to Popliteal pterygium syndrome 1MIM#119500; van der Woude syndrome MIM#119300
Mendeliome v0.9839 IRF6 Zornitza Stark Publications for gene: IRF6 were set to 20301581
Mendeliome v0.9838 IRF6 Zornitza Stark Marked gene: IRF6 as ready
Mendeliome v0.9838 IRF6 Zornitza Stark Gene: irf6 has been classified as Green List (High Evidence).
Mendeliome v0.9838 IRF6 Zornitza Stark Phenotypes for gene: IRF6 were changed from to Popliteal pterygium syndrome 1MIM#119500; van der Woude syndrome MIM#119300
Mendeliome v0.9837 IRF6 Zornitza Stark Publications for gene: IRF6 were set to
Mendeliome v0.9836 IRF6 Zornitza Stark Mode of inheritance for gene: IRF6 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.9835 MATN3 Zornitza Stark Marked gene: MATN3 as ready
Mendeliome v0.9835 MATN3 Zornitza Stark Gene: matn3 has been classified as Green List (High Evidence).
Mendeliome v0.9835 MATN3 Zornitza Stark Phenotypes for gene: MATN3 were changed from to Spondyloepimetaphyseal dysplasia, Borochowitz-Cormier-Daire type (MIM#608728); Epiphyseal dysplasia, multiple, 5 (MIM#607078)
Mendeliome v0.9834 MATN3 Zornitza Stark Publications for gene: MATN3 were set to
Mendeliome v0.9833 MATN3 Zornitza Stark Mode of inheritance for gene: MATN3 was changed from Unknown to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Mendeliome v0.9832 INPPL1 Zornitza Stark Marked gene: INPPL1 as ready
Mendeliome v0.9832 INPPL1 Zornitza Stark Gene: inppl1 has been classified as Green List (High Evidence).
Mendeliome v0.9832 INPPL1 Zornitza Stark Phenotypes for gene: INPPL1 were changed from to Opsismodysplasia MIM#258480
Mendeliome v0.9831 INPPL1 Zornitza Stark Publications for gene: INPPL1 were set to
Mendeliome v0.9830 INPPL1 Zornitza Stark Mode of inheritance for gene: INPPL1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.9829 INPPL1 Zornitza Stark reviewed gene: INPPL1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.9829 MAF Zornitza Stark Marked gene: MAF as ready
Mendeliome v0.9829 MAF Zornitza Stark Gene: maf has been classified as Green List (High Evidence).
Mendeliome v0.9829 MAF Zornitza Stark Phenotypes for gene: MAF were changed from to Ayme-Gripp syndrome (MIM#601088)
Mendeliome v0.9828 MAF Zornitza Stark Publications for gene: MAF were set to
Mendeliome v0.9827 MAF Zornitza Stark Mode of inheritance for gene: MAF was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.9826 LRP4 Zornitza Stark Marked gene: LRP4 as ready
Mendeliome v0.9826 LRP4 Zornitza Stark Gene: lrp4 has been classified as Green List (High Evidence).
Mendeliome v0.9826 LRP4 Zornitza Stark Phenotypes for gene: LRP4 were changed from to Cenani-Lenz syndactyly syndrome (MIM#212780); Myasthenic syndrome, congenital, 17, MIM# 616304; Sclerosteosis 2, MIM# 614305; Syndactyly
Mendeliome v0.9825 LRP4 Zornitza Stark Publications for gene: LRP4 were set to
Mendeliome v0.9824 LRP4 Zornitza Stark reviewed gene: LRP4: Rating: GREEN; Mode of pathogenicity: None; Publications: 24234652, 26052878, 24200689, 21471202, 32286743, 28477420, 26751728, 29524275; Phenotypes: Myasthenic syndrome, congenital, 17, MIM# 616304, Sclerosteosis 2, MIM# 614305, Syndactyly; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.9824 LRP4 Zornitza Stark Mode of inheritance for gene: LRP4 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.9823 MLC1 Zornitza Stark Marked gene: MLC1 as ready
Mendeliome v0.9823 MLC1 Zornitza Stark Gene: mlc1 has been classified as Green List (High Evidence).
Mendeliome v0.9823 MLC1 Zornitza Stark Phenotypes for gene: MLC1 were changed from to Megalencephalic leukoencephalopathy with subcortical cysts (MIM#604004)
Mendeliome v0.9822 MLC1 Zornitza Stark Publications for gene: MLC1 were set to
Mendeliome v0.9821 MLC1 Zornitza Stark Mode of inheritance for gene: MLC1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.9820 MMP13 Zornitza Stark Marked gene: MMP13 as ready
Mendeliome v0.9820 MMP13 Zornitza Stark Gene: mmp13 has been classified as Green List (High Evidence).
Mendeliome v0.9820 MMP13 Zornitza Stark Phenotypes for gene: MMP13 were changed from to Metaphyseal anadysplasia 1 (MIM#602111); Metaphyseal dysplasia, Spahr type (MIM#250400); ?Spondyloepimetaphyseal dysplasia, Missouri type (MIM#602111)
Mendeliome v0.9819 MMP13 Zornitza Stark Publications for gene: MMP13 were set to
Mendeliome v0.9818 MBTPS2 Zornitza Stark Marked gene: MBTPS2 as ready
Mendeliome v0.9818 MBTPS2 Zornitza Stark Gene: mbtps2 has been classified as Green List (High Evidence).
Mendeliome v0.9818 MBTPS2 Zornitza Stark Phenotypes for gene: MBTPS2 were changed from to Osteogenesis imperfecta, type XIX, (MIM301014); IFAP syndrome with or without BRESHECK syndrome (MIM#308205); Keratosis follicularis spinulosa decalvans, X-linked (MIM#308800); Olmsted syndrome, X-linked (MIM#300918)
Mendeliome v0.9817 MBTPS2 Zornitza Stark Publications for gene: MBTPS2 were set to
Mendeliome v0.9816 MBTPS2 Zornitza Stark Mode of inheritance for gene: MBTPS2 was changed from Unknown to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Mendeliome v0.9815 IHH Zornitza Stark Marked gene: IHH as ready
Mendeliome v0.9815 IHH Zornitza Stark Gene: ihh has been classified as Green List (High Evidence).
Mendeliome v0.9815 MMP13 Zornitza Stark Mode of pathogenicity for gene: MMP13 was changed from to Other
Mendeliome v0.9814 IHH Zornitza Stark Phenotypes for gene: IHH were changed from to Acrocapitofemoral dysplasia MIM#607778; Brachydactyly, type A1 MIM#112500
Mendeliome v0.9813 IHH Zornitza Stark Publications for gene: IHH were set to
Mendeliome v0.9812 MMP13 Zornitza Stark Mode of inheritance for gene: MMP13 was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Mendeliome v0.9811 IHH Zornitza Stark Mode of inheritance for gene: IHH was changed from Unknown to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Mendeliome v0.9810 KCTD1 Zornitza Stark Marked gene: KCTD1 as ready
Mendeliome v0.9810 KCTD1 Zornitza Stark Gene: kctd1 has been classified as Green List (High Evidence).
Mendeliome v0.9810 KCTD1 Zornitza Stark Phenotypes for gene: KCTD1 were changed from to Scalp-ear-nipple syndrome MIM#181270
Mendeliome v0.9809 KCTD1 Zornitza Stark Publications for gene: KCTD1 were set to
Mendeliome v0.9808 KCTD1 Zornitza Stark Mode of inheritance for gene: KCTD1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.9807 KCNJ2 Zornitza Stark Marked gene: KCNJ2 as ready
Mendeliome v0.9807 KCNJ2 Zornitza Stark Gene: kcnj2 has been classified as Green List (High Evidence).
Mendeliome v0.9807 KCNJ2 Zornitza Stark Phenotypes for gene: KCNJ2 were changed from to Andersen syndrome MIM#170390; Atrial fibrillation, familial, 9 MIM#613980; Short QT syndrome 3 MIM#609622
Mendeliome v0.9806 KCNJ2 Zornitza Stark Mode of pathogenicity for gene: KCNJ2 was changed from to Other
Mendeliome v0.9805 KCNJ2 Zornitza Stark Mode of inheritance for gene: KCNJ2 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.9804 MID1 Zornitza Stark Marked gene: MID1 as ready
Mendeliome v0.9804 MID1 Zornitza Stark Gene: mid1 has been classified as Green List (High Evidence).
Mendeliome v0.9804 MID1 Zornitza Stark Phenotypes for gene: MID1 were changed from to Opitz GBBB syndrome, type I (MIM#300000)
Mendeliome v0.9803 MID1 Zornitza Stark Publications for gene: MID1 were set to
Mendeliome v0.9802 MID1 Zornitza Stark Mode of inheritance for gene: MID1 was changed from Unknown to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Mendeliome v0.9801 KAT6A Zornitza Stark Marked gene: KAT6A as ready
Mendeliome v0.9801 KAT6A Zornitza Stark Gene: kat6a has been classified as Green List (High Evidence).
Mendeliome v0.9801 KAT6A Zornitza Stark Phenotypes for gene: KAT6A were changed from to Arboleda-Tham syndrome MIM#616268
Mendeliome v0.9800 MESP2 Zornitza Stark Marked gene: MESP2 as ready
Mendeliome v0.9800 MESP2 Zornitza Stark Gene: mesp2 has been classified as Green List (High Evidence).
Mendeliome v0.9800 MESP2 Zornitza Stark Phenotypes for gene: MESP2 were changed from to Spondylocostal dysostosis 2, autosomal recessive (MIM#608681)
Mendeliome v0.9799 KAT6A Zornitza Stark Publications for gene: KAT6A were set to
Mendeliome v0.9798 MESP2 Zornitza Stark Publications for gene: MESP2 were set to
Mendeliome v0.9797 KAT6A Zornitza Stark Mode of inheritance for gene: KAT6A was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.9796 MESP2 Zornitza Stark Mode of inheritance for gene: MESP2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.9795 KAT6A Zornitza Stark reviewed gene: KAT6A: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Mendeliome v0.9795 ZNF365 Zornitza Stark Marked gene: ZNF365 as ready
Mendeliome v0.9795 ZNF365 Zornitza Stark Gene: znf365 has been classified as Red List (Low Evidence).
Mendeliome v0.9795 ZNF365 Zornitza Stark Classified gene: ZNF365 as Red List (low evidence)
Mendeliome v0.9795 ZNF365 Zornitza Stark Gene: znf365 has been classified as Red List (Low Evidence).
Mendeliome v0.9794 CRLF1 Zornitza Stark Marked gene: CRLF1 as ready
Mendeliome v0.9794 CRLF1 Zornitza Stark Gene: crlf1 has been classified as Green List (High Evidence).
Mendeliome v0.9794 CRLF1 Zornitza Stark Phenotypes for gene: CRLF1 were changed from to Cold-induced sweating syndrome 1, MIM#272430
Mendeliome v0.9793 CRLF1 Zornitza Stark Publications for gene: CRLF1 were set to
Mendeliome v0.9792 CRLF1 Zornitza Stark Mode of inheritance for gene: CRLF1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.9791 CRLF1 Zornitza Stark reviewed gene: CRLF1: Rating: GREEN; Mode of pathogenicity: None; Publications: 12509788, 17436251, 17436252; Phenotypes: Cold-induced sweating syndrome 1, MIM#272430; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.9791 CPT2 Zornitza Stark Marked gene: CPT2 as ready
Mendeliome v0.9791 CPT2 Zornitza Stark Gene: cpt2 has been classified as Green List (High Evidence).
Mendeliome v0.9791 CPT2 Zornitza Stark Phenotypes for gene: CPT2 were changed from to CPT II deficiency, infantile 600649; CPT II deficiency, lethal neonatal 608836; CPT II deficiency, myopathic, stress-induced 255110
Mendeliome v0.9790 CPT2 Zornitza Stark Publications for gene: CPT2 were set to
Mendeliome v0.9789 CPT2 Zornitza Stark Mode of inheritance for gene: CPT2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.9788 CPT2 Zornitza Stark reviewed gene: CPT2: Rating: GREEN; Mode of pathogenicity: None; Publications: 11477613, 12410208, 8651281, 12410208, 8358442; Phenotypes: CPT II deficiency, infantile 600649, CPT II deficiency, lethal neonatal 608836, CPT II deficiency, myopathic, stress-induced 255110; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.9788 COX7B Zornitza Stark Marked gene: COX7B as ready
Mendeliome v0.9788 COX7B Zornitza Stark Gene: cox7b has been classified as Green List (High Evidence).
Mendeliome v0.9788 COX7B Zornitza Stark Phenotypes for gene: COX7B were changed from to Linear skin defects with multiple congenital anomalies 2, MIM#300887
Mendeliome v0.9787 COX7B Zornitza Stark Publications for gene: COX7B were set to
Mendeliome v0.9786 COX7B Zornitza Stark Mode of inheritance for gene: COX7B was changed from Unknown to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Mendeliome v0.9785 COX7B Zornitza Stark reviewed gene: COX7B: Rating: GREEN; Mode of pathogenicity: None; Publications: 23122588; Phenotypes: Linear skin defects with multiple congenital anomalies 2, MIM#300887; Mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Mendeliome v0.9785 IRF6 Ain Roesley reviewed gene: IRF6: Rating: GREEN; Mode of pathogenicity: None; Publications: 20301581; Phenotypes: Popliteal pterygium syndrome 1MIM#119500, van der Woude syndrome MIM#119300; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes
Mendeliome v0.9785 MATN3 Daniel Flanagan reviewed gene: MATN3: Rating: GREEN; Mode of pathogenicity: None; Publications: 31724101, 32025536, 11968079, 14729835; Phenotypes: Spondyloepimetaphyseal dysplasia, Borochowitz-Cormier-Daire type (MIM#608728), Epiphyseal dysplasia, multiple, 5 (MIM#607078); Mode of inheritance: BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Mendeliome v0.9785 INPPL1 Ain Roesley reviewed gene: INPPL1: Rating: GREEN; Mode of pathogenicity: None; Publications: 23273567, 34529350, 34094554; Phenotypes: Opsismodysplasia MIM#258480; Mode of inheritance: None; Current diagnostic: yes
Mendeliome v0.9785 MAF Daniel Flanagan reviewed gene: MAF: Rating: GREEN; Mode of pathogenicity: None; Publications: 30160832, 34643041; Phenotypes: Ayme-Gripp syndrome (MIM#601088); Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.9785 COQ4 Zornitza Stark Marked gene: COQ4 as ready
Mendeliome v0.9785 COQ4 Zornitza Stark Gene: coq4 has been classified as Green List (High Evidence).
Mendeliome v0.9785 COQ4 Zornitza Stark Phenotypes for gene: COQ4 were changed from to Coenzyme Q10 deficiency, primary, 7, MIM# 616276
Mendeliome v0.9784 COQ4 Zornitza Stark Publications for gene: COQ4 were set to
Mendeliome v0.9783 COQ4 Zornitza Stark Mode of inheritance for gene: COQ4 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.9782 COQ4 Zornitza Stark reviewed gene: COQ4: Rating: GREEN; Mode of pathogenicity: None; Publications: 25658047, 26185144, 33704555; Phenotypes: Coenzyme Q10 deficiency, primary, 7, MIM# 616276; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.9782 LRP4 Daniel Flanagan reviewed gene: LRP4: Rating: GREEN; Mode of pathogenicity: None; Publications: 23636941, 23664847, 30041615, 20381006; Phenotypes: Cenani-Lenz syndactyly syndrome (MIM#212780); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.9782 COLEC11 Zornitza Stark Marked gene: COLEC11 as ready
Mendeliome v0.9782 COLEC11 Zornitza Stark Gene: colec11 has been classified as Green List (High Evidence).
Mendeliome v0.9782 COLEC11 Zornitza Stark Phenotypes for gene: COLEC11 were changed from to 3MC syndrome 2, MIM# 265050
Mendeliome v0.9781 COLEC11 Zornitza Stark Publications for gene: COLEC11 were set to
Mendeliome v0.9780 COLEC11 Zornitza Stark Mode of inheritance for gene: COLEC11 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.9779 COLEC11 Zornitza Stark reviewed gene: COLEC11: Rating: GREEN; Mode of pathogenicity: None; Publications: 21258343, 26789649, 28301481; Phenotypes: 3MC syndrome 2, MIM# 265050; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.9779 MLC1 Daniel Flanagan reviewed gene: MLC1: Rating: GREEN; Mode of pathogenicity: None; Publications: 11254442, 18757878, 16652334; Phenotypes: Megalencephalic leukoencephalopathy with subcortical cysts (MIM#604004); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.9779 MBTPS2 Daniel Flanagan reviewed gene: MBTPS2: Rating: GREEN; Mode of pathogenicity: None; Publications: 27380894, 19361614, 21426410; Phenotypes: Osteogenesis imperfecta, type XIX, (MIM301014), IFAP syndrome with or without BRESHECK syndrome (MIM#308205), Keratosis follicularis spinulosa decalvans, X-linked (MIM#308800), ?Olmsted syndrome, X-linked (MIM#300918); Mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Mendeliome v0.9779 MMP13 Daniel Flanagan reviewed gene: MMP13: Rating: GREEN; Mode of pathogenicity: Other; Publications: 19615667, 24781753, 24648384; Phenotypes: Metaphyseal anadysplasia 1 (MIM#602111), Metaphyseal dysplasia, Spahr type (MIM#250400), ?Spondyloepimetaphyseal dysplasia, Missouri type (MIM#602111); Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Mendeliome v0.9779 IHH Ain Roesley reviewed gene: IHH: Rating: GREEN; Mode of pathogenicity: None; Publications: 34530144, 12632327, 32311039, 29155992; Phenotypes: Acrocapitofemoral dysplasia MIM#607778, Brachydactyly, type A1 MIM#112500; Mode of inheritance: BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal; Current diagnostic: yes
Mendeliome v0.9779 KIAA1109 Ain Roesley reviewed gene: KIAA1109: Rating: GREEN; Mode of pathogenicity: None; Publications: 29290337, 30906834; Phenotypes: Alkuraya-Kucinskas syndrome MIM#617822; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Mendeliome v0.9779 KCTD1 Ain Roesley reviewed gene: KCTD1: Rating: GREEN; Mode of pathogenicity: None; Publications: 23541344, 31324836; Phenotypes: Scalp-ear-nipple syndrome MIM#181270; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes
Mendeliome v0.9779 KCNJ2 Ain Roesley commented on gene: KCNJ2: well-established association, including short QT, long QT, clefting disorders, myopathy adult onset, channelopathies. tenuous association for CPVT

Dominant-negative is the disease mechanism
Mendeliome v0.9779 KCNJ2 Ain Roesley reviewed gene: KCNJ2: Rating: GREEN; Mode of pathogenicity: Other; Publications: ; Phenotypes: Andersen syndrome MIM#170390, Atrial fibrillation, familial, 9 MIM#613980, Short QT syndrome 3 MIM#609622; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes
Mendeliome v0.9779 MID1 Daniel Flanagan reviewed gene: MID1: Rating: GREEN; Mode of pathogenicity: None; Publications: 1103076, 9354791; Phenotypes: Opitz GBBB syndrome, type I (MIM#300000); Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Mendeliome v0.9779 KAT6A Ain Roesley reviewed gene: KAT6A: Rating: GREEN; Mode of pathogenicity: None; Publications: 30245513; Phenotypes: Arboleda-Tham syndrome MIM#616268; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes
Mendeliome v0.9779 MESP2 Daniel Flanagan reviewed gene: MESP2: Rating: GREEN; Mode of pathogenicity: None; Publications: 18485326; Phenotypes: Spondylocostal dysostosis 2, autosomal recessive (MIM#608681); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.9779 ZNF365 Ain Roesley reviewed gene: ZNF365: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Mendeliome v0.9779 COG1 Zornitza Stark Marked gene: COG1 as ready
Mendeliome v0.9779 COG1 Zornitza Stark Gene: cog1 has been classified as Green List (High Evidence).
Mendeliome v0.9779 COG1 Zornitza Stark Phenotypes for gene: COG1 were changed from to Congenital disorder of glycosylation, type IIg, MIM# 611209
Mendeliome v0.9778 COG1 Zornitza Stark Publications for gene: COG1 were set to
Mendeliome v0.9777 COG1 Zornitza Stark Mode of inheritance for gene: COG1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.9776 COG1 Zornitza Stark reviewed gene: COG1: Rating: GREEN; Mode of pathogenicity: None; Publications: 16537452, 19008299, 17904886, 11980916; Phenotypes: Congenital disorder of glycosylation, type IIg, MIM# 611209; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.9776 NEBL Bryony Thompson Classified gene: NEBL as Amber List (moderate evidence)
Mendeliome v0.9776 NEBL Bryony Thompson Added comment: Comment on list classification: Limited gene-disease vailidity, Classification - 09/25/2020 by ClinGen Dilated Cardiomyopathy GCEP. Evidence Summary: NEBL was evaluated for autosomal dominant dilated cardiomyopathy (DCM). Human genetic evidence supporting this gene-disease relationship includes case-level data. Arimura and colleagues (2000, PMID: 11140941) analyzed 83 DCM patients and 311 healthy controls, identifying 4 missense variants of unknown significance (VUSs) in 4 DCM cases. High minor allele frequencies (MAFs) and lack of segregation excluded these variants as evidence. Purevjav and colleagues (2010, PMID: 20951326) investigated a total of 260 DCM patients and 300 unrelated ethnic matched controls by direct DNA sequencing. Authors identified 4 missense VUSs. One of these variants (Q128R) was downgraded in level of evidence due to the lack of segregation. The other 3 variants were not scored because of their MAF. Perrot and colleagues (2016, PMID: 27186169) investigated a total of 389 patients with DCM, HCM, or LVNC, 320 Caucasian sex-matched controls and 192 Caucasian sex-matched blood donors and identified 3 missense VUSs in 4 families. One of these variants was also carried by healthy relatives and therefore was excluded, however this may be explained by reduced penetrance. The 2 other variants lacked segregation as well and therefore were also excluded. In addition, this gene-disease association is supported by animal models. Mastronotaro and colleagues (2015, PMID: 25987543) created a NEBL knockout mice that exhibited normal cardiac function up to 9 months of age but after 2 weeks of transaortic constriction (TAC), these mice showed Z-line widening since the age of 5 months and upregulation of cardiac stress genes (basal and after TAC) However, absence of clinical DCM features in KO-NEBL mice as well as Western Blot analysis which contradicted previous findings by showing a similar protein expression between knockout and wild-type mice, excluding it as evidence. Purevjav and colleagues (2010, PMID: 20951326) generated a transgenic mouse overexpressing WT or mutant NEBL under the control of the α-MyHC promoter (4 variants were tested). Mice overexpressing p.K60N or p.Q128R variants died within 1 year because of severe heart enlargement and heart failure. Mice overexpressing p.G202R or p.A592E were born and developed normally but after 6 months displayed reduced stress tolerance, cardiac enlargement due to left ventricle dilation, myocyte disarray, and interstitial cell infiltration. In summary, there is limited evidence to support this gene-disease relationship. More evidence is needed to support the relationship of NEBL and autosomal dominant DCM. This classification was approved by the ClinGen Dilated Cardiomyopathy Working Group on October 11, 2019 (SOP Version 7). Gene Clinical Validity Standard Operating Procedures (SOP) - SOP7
Mendeliome v0.9776 NEBL Bryony Thompson Gene: nebl has been classified as Amber List (Moderate Evidence).
Mendeliome v0.9775 SPATA5L1 Zornitza Stark Phenotypes for gene: SPATA5L1 were changed from Intellectual disability; spastic-dystonic cerebral palsy; epilepsy; hearing loss to Neurodevelopmental disorder with hearing loss and spasticity, MIM# 619616; Deafness, autosomal recessive 119, MIM# 619615
Mendeliome v0.9774 SPATA5L1 Zornitza Stark changed review comment from: Note some of the affected individuals had isolated deafness, hence two OMIM phenotypes have been associated with this gene. All were of Ashkenazi Jewish origin, and had the p.Ile466Met founder variant, either hmz or compound het with another variant.; to: Note some of the affected individuals had isolated deafness, hence two OMIM phenotypes have been associated with this gene. All were of Ashkenazi Jewish origin, and had the p.Ile466Met founder variant, compound het with another variant.
Mendeliome v0.9774 SPATA5L1 Zornitza Stark edited their review of gene: SPATA5L1: Added comment: Note some of the affected individuals had isolated deafness, hence two OMIM phenotypes have been associated with this gene. All were of Ashkenazi Jewish origin, and had the p.Ile466Met founder variant, either hmz or compound het with another variant.; Changed publications: 34626583; Changed phenotypes: Neurodevelopmental disorder with hearing loss and spasticity, MIM# 619616, Deafness, autosomal recessive 119, MIM# 619615
Mendeliome v0.9774 SPATA5L1 Zornitza Stark reviewed gene: SPATA5L1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Neurodevelopmental disorder with hearing loss and spasticity, MIM# 619616; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.9774 MEIS2 Zornitza Stark Marked gene: MEIS2 as ready
Mendeliome v0.9774 MEIS2 Zornitza Stark Gene: meis2 has been classified as Green List (High Evidence).
Mendeliome v0.9774 MEIS2 Zornitza Stark Phenotypes for gene: MEIS2 were changed from to Cleft palate, cardiac defects, and mental retardation (MIM#600987)
Mendeliome v0.9773 MEIS2 Zornitza Stark Publications for gene: MEIS2 were set to
Mendeliome v0.9772 MEIS2 Zornitza Stark Mode of inheritance for gene: MEIS2 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.9771 LAMA4 Zornitza Stark Marked gene: LAMA4 as ready
Mendeliome v0.9771 LAMA4 Zornitza Stark Gene: lama4 has been classified as Red List (Low Evidence).
Mendeliome v0.9771 LAMA4 Zornitza Stark Phenotypes for gene: LAMA4 were changed from to Cardiomyopathy, dilated, 1JJ (MIM#615235)
Mendeliome v0.9770 LAMA4 Zornitza Stark Publications for gene: LAMA4 were set to
Mendeliome v0.9769 LAMA4 Zornitza Stark Mode of inheritance for gene: LAMA4 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.9768 LAMA4 Zornitza Stark Classified gene: LAMA4 as Red List (low evidence)
Mendeliome v0.9768 LAMA4 Zornitza Stark Gene: lama4 has been classified as Red List (Low Evidence).
Mendeliome v0.9767 LAMA4 Zornitza Stark Tag disputed tag was added to gene: LAMA4.
Mendeliome v0.9767 LAMA4 Zornitza Stark reviewed gene: LAMA4: Rating: RED; Mode of pathogenicity: None; Publications: 17646580, 26406308, 27532257; Phenotypes: Cardiomyopathy, dilated, 1JJ (MIM#615235); Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.9767 DSTYK Zornitza Stark Mode of inheritance for gene: DSTYK was changed from BIALLELIC, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Mendeliome v0.9766 DSTYK Zornitza Stark Classified gene: DSTYK as Amber List (moderate evidence)
Mendeliome v0.9766 DSTYK Zornitza Stark Gene: dstyk has been classified as Amber List (Moderate Evidence).
Mendeliome v0.9765 DSTYK Zornitza Stark edited their review of gene: DSTYK: Changed rating: AMBER
Mendeliome v0.9765 ATP1A2 Zornitza Stark Phenotypes for gene: ATP1A2 were changed from Alternating hemiplegia of childhood 1, MIM#104290; Fetal akinesia, respiratory insufficiency, microcephaly, polymicrogyria, and dysmorphic facies, MIM# 619602; Developmental and epileptic encephalopathy, polymicrogyria to Alternating hemiplegia of childhood 1, MIM#104290; Fetal akinesia, respiratory insufficiency, microcephaly, polymicrogyria, and dysmorphic facies, MIM# 619602; Developmental and epileptic encephalopathy 98, MIM# 619605
Mendeliome v0.9764 ATP1A2 Zornitza Stark edited their review of gene: ATP1A2: Changed phenotypes: Alternating hemiplegia of childhood 1, MIM#104290, Fetal akinesia, respiratory insufficiency, microcephaly, polymicrogyria, and dysmorphic facies, MIM# 619602, Developmental and epileptic encephalopathy 98, MIM# 619605
Mendeliome v0.9764 ATP1A2 Zornitza Stark Phenotypes for gene: ATP1A2 were changed from Alternating hemiplegia of childhood 1, MIM#104290; Hydrops fetalis, microcephaly, arthrogryposis, extensive cortical malformations; Developmental and epileptic encephalopathy, polymicrogyria to Alternating hemiplegia of childhood 1, MIM#104290; Fetal akinesia, respiratory insufficiency, microcephaly, polymicrogyria, and dysmorphic facies, MIM# 619602; Developmental and epileptic encephalopathy, polymicrogyria
Mendeliome v0.9763 ATP1A2 Zornitza Stark edited their review of gene: ATP1A2: Changed phenotypes: Alternating hemiplegia of childhood 1, MIM#104290, Fetal akinesia, respiratory insufficiency, microcephaly, polymicrogyria, and dysmorphic facies, MIM# 619602, Developmental and epileptic encephalopathy, polymicrogyria
Mendeliome v0.9763 NR4A3 Ain Roesley reviewed gene: NR4A3: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Mendeliome v0.9763 PRKG2 Zornitza Stark Publications for gene: PRKG2 were set to 33106379
Mendeliome v0.9762 PRKG2 Zornitza Stark reviewed gene: PRKG2: Rating: GREEN; Mode of pathogenicity: None; Publications: 34782440; Phenotypes: Acromesomelic dysplasia; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.9762 MED17 Zornitza Stark Tag founder tag was added to gene: MED17.
Mendeliome v0.9762 MED17 Zornitza Stark edited their review of gene: MED17: Changed publications: 30345598, 33756211
Mendeliome v0.9762 MED17 Zornitza Stark changed review comment from: 5 individuals from 3 families now reported with intellectual disability and variable other neurological features including ataxia and seizures.; to: Over 10 families now reported with intellectual disability and variable other neurological features including ataxia, microcephaly and seizures.

Note the c.1112T>C (p.L371P) variant is a founder variant in the Caucasus-Jewish families.
Mendeliome v0.9762 CNTNAP2 Zornitza Stark Marked gene: CNTNAP2 as ready
Mendeliome v0.9762 CNTNAP2 Zornitza Stark Gene: cntnap2 has been classified as Green List (High Evidence).
Mendeliome v0.9762 CNTNAP2 Zornitza Stark Phenotypes for gene: CNTNAP2 were changed from to Cortical dysplasia-focal epilepsy syndrome, MIM# 610042
Mendeliome v0.9761 CNTNAP2 Zornitza Stark Publications for gene: CNTNAP2 were set to
Mendeliome v0.9760 CNTNAP2 Zornitza Stark Mode of inheritance for gene: CNTNAP2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.9759 CNTNAP2 Zornitza Stark reviewed gene: CNTNAP2: Rating: GREEN; Mode of pathogenicity: None; Publications: 16571880, 19896112, 27439707; Phenotypes: Cortical dysplasia-focal epilepsy syndrome, MIM# 610042; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.9759 CKAP2L Zornitza Stark Marked gene: CKAP2L as ready
Mendeliome v0.9759 CKAP2L Zornitza Stark Gene: ckap2l has been classified as Green List (High Evidence).
Mendeliome v0.9759 CKAP2L Zornitza Stark Phenotypes for gene: CKAP2L were changed from to Filippi syndrome, MIM# 272440
Mendeliome v0.9758 CKAP2L Zornitza Stark Publications for gene: CKAP2L were set to
Mendeliome v0.9757 CKAP2L Zornitza Stark Mode of inheritance for gene: CKAP2L was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.9756 CKAP2L Zornitza Stark reviewed gene: CKAP2L: Rating: GREEN; Mode of pathogenicity: None; Publications: 25439729, 33913579, 29473684; Phenotypes: Filippi syndrome, MIM# 272440; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.9756 P3H1 Zornitza Stark Marked gene: P3H1 as ready
Mendeliome v0.9756 P3H1 Zornitza Stark Gene: p3h1 has been classified as Green List (High Evidence).
Mendeliome v0.9756 P3H1 Zornitza Stark Phenotypes for gene: P3H1 were changed from to Osteogenesis imperfecta, type VIII, MIM# 610915
Mendeliome v0.9755 P3H1 Zornitza Stark Publications for gene: P3H1 were set to
Mendeliome v0.9754 P3H1 Zornitza Stark Mode of inheritance for gene: P3H1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.9753 P3H1 Dean Phelan reviewed gene: P3H1: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 17277775, 19088120, 27864101, 33737016; Phenotypes: Osteogenesis imperfecta; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.9753 CHST3 Zornitza Stark Marked gene: CHST3 as ready
Mendeliome v0.9753 CHST3 Zornitza Stark Gene: chst3 has been classified as Green List (High Evidence).
Mendeliome v0.9753 CHST3 Zornitza Stark Phenotypes for gene: CHST3 were changed from to Spondyloepiphyseal dysplasia with congenital joint dislocations, MIM# 143095
Mendeliome v0.9752 CHST3 Zornitza Stark Publications for gene: CHST3 were set to
Mendeliome v0.9751 CHST3 Zornitza Stark Mode of inheritance for gene: CHST3 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.9750 CHST3 Zornitza Stark reviewed gene: CHST3: Rating: GREEN; Mode of pathogenicity: None; Publications: 18513679; Phenotypes: Spondyloepiphyseal dysplasia with congenital joint dislocations, MIM# 143095; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.9750 IL1RAPL1 Zornitza Stark Marked gene: IL1RAPL1 as ready
Mendeliome v0.9750 IL1RAPL1 Zornitza Stark Gene: il1rapl1 has been classified as Green List (High Evidence).
Mendeliome v0.9750 IL1RAPL1 Zornitza Stark Phenotypes for gene: IL1RAPL1 were changed from to Intellectual developmental disorder, X-linked 21 MIM#300143
Mendeliome v0.9749 IL1RAPL1 Zornitza Stark Publications for gene: IL1RAPL1 were set to
Mendeliome v0.9748 IL1RAPL1 Zornitza Stark Mode of inheritance for gene: IL1RAPL1 was changed from Unknown to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Mendeliome v0.9747 IFITM5 Zornitza Stark Tag 5'UTR tag was added to gene: IFITM5.
Mendeliome v0.9747 IFITM5 Zornitza Stark Marked gene: IFITM5 as ready
Mendeliome v0.9747 IFITM5 Zornitza Stark Gene: ifitm5 has been classified as Green List (High Evidence).
Mendeliome v0.9747 IFITM5 Zornitza Stark Phenotypes for gene: IFITM5 were changed from to Osteogenesis imperfecta, type V MIM#610967
Mendeliome v0.9746 IFITM5 Zornitza Stark Publications for gene: IFITM5 were set to
Mendeliome v0.9745 IFITM5 Zornitza Stark Mode of pathogenicity for gene: IFITM5 was changed from to Other
Mendeliome v0.9744 IFITM5 Zornitza Stark Mode of inheritance for gene: IFITM5 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.9743 CHRND Zornitza Stark Marked gene: CHRND as ready
Mendeliome v0.9743 CHRND Zornitza Stark Gene: chrnd has been classified as Green List (High Evidence).
Mendeliome v0.9743 CHRND Zornitza Stark Phenotypes for gene: CHRND were changed from to Myasthenic syndrome, congenital, 3B, fast-channel, MIM#616322; Myasthenic syndrome, congenital, 3C, associated with acetylcholine receptor deficiency, MIM#616323; Myasthenic syndrome, congenital, 3A, slow-channel, MIM#616321; Multiple pterygium syndrome, lethal type, MIM# 253290; MONDO:0009668
Mendeliome v0.9742 CHRND Zornitza Stark Publications for gene: CHRND were set to
Mendeliome v0.9741 CHRND Zornitza Stark Mode of inheritance for gene: CHRND was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.9740 CHRND Zornitza Stark reviewed gene: CHRND: Rating: GREEN; Mode of pathogenicity: None; Publications: 16916845, 11435464, 12499478, 18398509, 11782989, 29399782, 18252226; Phenotypes: Myasthenic syndrome, congenital, 3B, fast-channel, MIM#616322, Myasthenic syndrome, congenital, 3C, associated with acetylcholine receptor deficiency, MIM#616323, Myasthenic syndrome, congenital, 3A, slow-channel, MIM#616321, Multiple pterygium syndrome, lethal type, MIM# 253290, MONDO:0009668; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.9740 CHRNA1 Zornitza Stark Marked gene: CHRNA1 as ready
Mendeliome v0.9740 CHRNA1 Zornitza Stark Gene: chrna1 has been classified as Green List (High Evidence).
Mendeliome v0.9740 CHRNA1 Zornitza Stark Phenotypes for gene: CHRNA1 were changed from to Multiple pterygium syndrome, lethal type, MIM# 253290; MONDO:0009668; Myasthenic syndrome, congenital, 1A, slow-channel, MIM# 601462; Myasthenic syndrome, congenital, 1B, fast-channel , MIM#608930
Mendeliome v0.9739 CHRNA1 Zornitza Stark Publications for gene: CHRNA1 were set to
Mendeliome v0.9738 CHRNA1 Zornitza Stark Mode of inheritance for gene: CHRNA1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.9737 CHRNA1 Zornitza Stark reviewed gene: CHRNA1: Rating: GREEN; Mode of pathogenicity: None; Publications: 26910802, 10195214, 12588888, 15079006, 18806275, 7619526, 8872460, 9158151, 18252226; Phenotypes: Multiple pterygium syndrome, lethal type, MIM# 253290, MONDO:0009668, Myasthenic syndrome, congenital, 1A, slow-channel, MIM# 601462, Myasthenic syndrome, congenital, 1B, fast-channel , MIM#608930; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.9737 IMPAD1 Ain Roesley reviewed gene: IMPAD1: Rating: GREEN; Mode of pathogenicity: None; Publications: 22887726, 21549340; Phenotypes: Chondrodysplasia with joint dislocations, GPAPP type MIM#614078; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Mendeliome v0.9737 IL1RAPL1 Ain Roesley reviewed gene: IL1RAPL1: Rating: GREEN; Mode of pathogenicity: None; Publications: 34452636, 27470653, 21484992, 18801879, 18801879; Phenotypes: Intellectual developmental disorder, X-linked 21 MIM#300143; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females; Current diagnostic: yes
Mendeliome v0.9737 MAFB Zornitza Stark Marked gene: MAFB as ready
Mendeliome v0.9737 MAFB Zornitza Stark Gene: mafb has been classified as Green List (High Evidence).
Mendeliome v0.9737 MAFB Zornitza Stark Phenotypes for gene: MAFB were changed from to Multicentric carpotarsal osteolysis syndrome (MIM#166300); Duane retraction syndrome 3, MIM# 617041
Mendeliome v0.9736 MAFB Zornitza Stark Publications for gene: MAFB were set to
Mendeliome v0.9735 MAFB Zornitza Stark reviewed gene: MAFB: Rating: GREEN; Mode of pathogenicity: None; Publications: 27181683; Phenotypes: Duane retraction syndrome 3, MIM# 617041; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.9735 IFITM5 Ain Roesley edited their review of gene: IFITM5: Added comment: Comment on mode of pathogenicity: LoF not established, alternative neomorph/GoF postulated but not yet conclusively proven; Changed mode of pathogenicity: Other
Mendeliome v0.9735 MAFB Zornitza Stark Mode of inheritance for gene: MAFB was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.9734 ASIP Zornitza Stark Marked gene: ASIP as ready
Mendeliome v0.9734 ASIP Zornitza Stark Gene: asip has been classified as Red List (Low Evidence).
Mendeliome v0.9734 ASIP Zornitza Stark Classified gene: ASIP as Red List (low evidence)
Mendeliome v0.9734 ASIP Zornitza Stark Gene: asip has been classified as Red List (Low Evidence).
Mendeliome v0.9733 MAFB Daniel Flanagan reviewed gene: MAFB: Rating: GREEN; Mode of pathogenicity: None; Publications: 23956186, 30208859; Phenotypes: Multicentric carpotarsal osteolysis syndrome (MIM#166300); Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.9733 IFITM5 Ain Roesley reviewed gene: IFITM5: Rating: GREEN; Mode of pathogenicity: None; Publications: 22863190, 22863195, 32383316, 24519609; Phenotypes: Osteogenesis imperfecta, type V MIM#610967; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes
Mendeliome v0.9733 CHKB Zornitza Stark Marked gene: CHKB as ready
Mendeliome v0.9733 CHKB Zornitza Stark Gene: chkb has been classified as Green List (High Evidence).
Mendeliome v0.9733 CHKB Zornitza Stark Phenotypes for gene: CHKB were changed from to Muscular dystrophy, congenital, megaconial type, MIM# 602541
Mendeliome v0.9732 CHKB Zornitza Stark Publications for gene: CHKB were set to
Mendeliome v0.9731 CHKB Zornitza Stark Mode of inheritance for gene: CHKB was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.9730 CHKB Zornitza Stark reviewed gene: CHKB: Rating: GREEN; Mode of pathogenicity: None; Publications: 21665002, 23692895, 24997086; Phenotypes: Muscular dystrophy, congenital, megaconial type, MIM# 602541; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.9730 CHAMP1 Zornitza Stark Marked gene: CHAMP1 as ready
Mendeliome v0.9730 CHAMP1 Zornitza Stark Gene: champ1 has been classified as Green List (High Evidence).
Mendeliome v0.9730 CHAMP1 Zornitza Stark Phenotypes for gene: CHAMP1 were changed from to Mental retardation, autosomal dominant 40 (MIM#616579)
Mendeliome v0.9729 CHAMP1 Zornitza Stark Publications for gene: CHAMP1 were set to
Mendeliome v0.9728 CHAMP1 Zornitza Stark Mode of inheritance for gene: CHAMP1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.9727 CHAMP1 Zornitza Stark reviewed gene: CHAMP1: Rating: GREEN; Mode of pathogenicity: None; Publications: 27148580, 26340335; Phenotypes: Mental retardation, autosomal dominant 40 (MIM#616579); Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.9727 CFTR Zornitza Stark Marked gene: CFTR as ready
Mendeliome v0.9727 CFTR Zornitza Stark Gene: cftr has been classified as Green List (High Evidence).
Mendeliome v0.9727 CFTR Zornitza Stark Phenotypes for gene: CFTR were changed from to Cystic fibrosis, MIM# 219700; Congenital bilateral absence of vas deferens, MIM# 277180
Mendeliome v0.9726 CFTR Zornitza Stark Mode of inheritance for gene: CFTR was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.9725 CFTR Zornitza Stark reviewed gene: CFTR: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Cystic fibrosis, MIM# 219700, Congenital bilateral absence of vas deferens, MIM# 277180; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.9725 ASIP Ain Roesley reviewed gene: ASIP: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None; Current diagnostic: yes
Mendeliome v0.9725 ETV6 Zornitza Stark Marked gene: ETV6 as ready
Mendeliome v0.9725 ETV6 Zornitza Stark Gene: etv6 has been classified as Green List (High Evidence).
Mendeliome v0.9725 ETV6 Zornitza Stark Phenotypes for gene: ETV6 were changed from to Thrombocytopaenia 5, MIM# 616216
Mendeliome v0.9724 ETV6 Zornitza Stark Publications for gene: ETV6 were set to
Mendeliome v0.9723 ETV6 Zornitza Stark Mode of inheritance for gene: ETV6 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.9722 ETV6 Zornitza Stark reviewed gene: ETV6: Rating: GREEN; Mode of pathogenicity: None; Publications: 25581430, 25807284; Phenotypes: Thrombocytopaenia 5, MIM# 616216; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.9722 BSG Zornitza Stark Marked gene: BSG as ready
Mendeliome v0.9722 BSG Zornitza Stark Gene: bsg has been classified as Red List (Low Evidence).
Mendeliome v0.9722 BSG Zornitza Stark Phenotypes for gene: BSG were changed from to [Blood group, OK] MIM#111380
Mendeliome v0.9721 BSG Zornitza Stark Classified gene: BSG as Red List (low evidence)
Mendeliome v0.9721 BSG Zornitza Stark Gene: bsg has been classified as Red List (Low Evidence).
Mendeliome v0.9720 TPCN2 Zornitza Stark Marked gene: TPCN2 as ready
Mendeliome v0.9720 TPCN2 Zornitza Stark Gene: tpcn2 has been classified as Red List (Low Evidence).
Mendeliome v0.9720 TPCN2 Zornitza Stark Phenotypes for gene: TPCN2 were changed from to [Skin/hair/eye pigmentation 10, blond/brown hair] MIM#612267
Mendeliome v0.9719 TPCN2 Zornitza Stark Publications for gene: TPCN2 were set to
Mendeliome v0.9718 TPCN2 Zornitza Stark Classified gene: TPCN2 as Red List (low evidence)
Mendeliome v0.9718 TPCN2 Zornitza Stark Gene: tpcn2 has been classified as Red List (Low Evidence).
Mendeliome v0.9717 MYO9B Zornitza Stark Marked gene: MYO9B as ready
Mendeliome v0.9717 MYO9B Zornitza Stark Gene: myo9b has been classified as Red List (Low Evidence).
Mendeliome v0.9717 MYO9B Zornitza Stark Phenotypes for gene: MYO9B were changed from to {Celiac disease, susceptibility to, 4} MIM#609753
Mendeliome v0.9716 MYO9B Zornitza Stark Publications for gene: MYO9B were set to
Mendeliome v0.9715 MYO9B Zornitza Stark Classified gene: MYO9B as Red List (low evidence)
Mendeliome v0.9715 MYO9B Zornitza Stark Gene: myo9b has been classified as Red List (Low Evidence).
Mendeliome v0.9714 HKDC1 Zornitza Stark Marked gene: HKDC1 as ready
Mendeliome v0.9714 HKDC1 Zornitza Stark Gene: hkdc1 has been classified as Red List (Low Evidence).
Mendeliome v0.9714 HKDC1 Zornitza Stark gene: HKDC1 was added
gene: HKDC1 was added to Mendeliome. Sources: Expert Review
Mode of inheritance for gene: HKDC1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: HKDC1 were set to 30085091
Phenotypes for gene: HKDC1 were set to Retinitis pigmentosa 92, MIM# 619614
Review for gene: HKDC1 was set to RED
Added comment: Two unrelated Chinese men reported with relatively late-onset RP, and same homozygous missense variant.
Sources: Expert Review
Mendeliome v0.9713 BSG Paul De Fazio reviewed gene: BSG: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: [Blood group, OK] MIM#111380; Mode of inheritance: Unknown; Current diagnostic: yes
Mendeliome v0.9713 TPCN2 Paul De Fazio reviewed gene: TPCN2: Rating: RED; Mode of pathogenicity: None; Publications: 20197744, 26918892; Phenotypes: [Skin/hair/eye pigmentation 10, blond/brown hair] MIM#612267; Mode of inheritance: Unknown; Current diagnostic: yes
Mendeliome v0.9713 MYO9B Paul De Fazio reviewed gene: MYO9B: Rating: RED; Mode of pathogenicity: None; Publications: 16720215, 16423886, 16282976; Phenotypes: {Celiac disease, susceptibility to, 4} MIM#609753; Mode of inheritance: Unknown; Current diagnostic: yes
Mendeliome v0.9713 CENPJ Zornitza Stark Marked gene: CENPJ as ready
Mendeliome v0.9713 CENPJ Zornitza Stark Gene: cenpj has been classified as Green List (High Evidence).
Mendeliome v0.9713 CENPJ Zornitza Stark Phenotypes for gene: CENPJ were changed from to Microcephaly 6, primary, autosomal recessive, MIM# 608393, MONDO:0012029; Seckel syndrome 4, MIM# 613676, MONDO:0013358
Mendeliome v0.9712 CENPJ Zornitza Stark Publications for gene: CENPJ were set to
Mendeliome v0.9711 CENPJ Zornitza Stark Mode of inheritance for gene: CENPJ was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.9710 CENPJ Zornitza Stark reviewed gene: CENPJ: Rating: GREEN; Mode of pathogenicity: None; Publications: 20522431, 23166506, 15793586, 20978018, 22775483, 32677750, 32549991; Phenotypes: Microcephaly 6, primary, autosomal recessive, MIM# 608393, MONDO:0012029, Seckel syndrome 4, MIM# 613676, MONDO:0013358; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.9710 CDON Zornitza Stark Marked gene: CDON as ready
Mendeliome v0.9710 CDON Zornitza Stark Gene: cdon has been classified as Green List (High Evidence).
Mendeliome v0.9710 CDON Zornitza Stark Phenotypes for gene: CDON were changed from to Holoprosencephaly 11, MIM# 614226; MONDO:0013642
Mendeliome v0.9709 CDON Zornitza Stark Publications for gene: CDON were set to
Mendeliome v0.9708 CDON Zornitza Stark Mode of inheritance for gene: CDON was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.9707 CDON Zornitza Stark changed review comment from: >5 unrelated families reported, however note some of the variants are present at a very low frequentcy in gnomad (1-4) and some are inherited. Mouse model.; to: >5 unrelated families reported, however note some of the variants are present at a very low frequentcy in gnomad (1-4) and some are inherited. Mouse model.

Note single report of bi-allelic variants in association with coloboma: PMID 32729136
Mendeliome v0.9707 CDON Zornitza Stark reviewed gene: CDON: Rating: GREEN; Mode of pathogenicity: None; Publications: 21802063, 26529631, 26728615, 23071453; Phenotypes: Holoprosencephaly 11, MIM# 614226, MONDO:0013642; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.9707 CDH3 Zornitza Stark Marked gene: CDH3 as ready
Mendeliome v0.9707 CDH3 Zornitza Stark Gene: cdh3 has been classified as Green List (High Evidence).
Mendeliome v0.9707 CDH3 Zornitza Stark Phenotypes for gene: CDH3 were changed from to Ectodermal dysplasia, ectrodactyly, and macular dystrophy, MIM# 225280; Hypotrichosis, congenital, with juvenile macular dystrophy, MIM# 601553
Mendeliome v0.9706 CDH3 Zornitza Stark Publications for gene: CDH3 were set to
Mendeliome v0.9705 CDH3 Zornitza Stark Mode of inheritance for gene: CDH3 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.9704 CDH3 Zornitza Stark reviewed gene: CDH3: Rating: GREEN; Mode of pathogenicity: None; Publications: 11544476, 15805154, 28061825, 22140374; Phenotypes: Ectodermal dysplasia, ectrodactyly, and macular dystrophy, MIM# 225280, Hypotrichosis, congenital, with juvenile macular dystrophy, MIM# 601553; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.9704 EFHC1 Zornitza Stark Tag disputed tag was added to gene: EFHC1.
Mendeliome v0.9704 CPA6 Zornitza Stark Tag refuted tag was added to gene: CPA6.
Tag disputed tag was added to gene: CPA6.
Mendeliome v0.9704 MICAL1 Zornitza Stark Marked gene: MICAL1 as ready
Mendeliome v0.9704 MICAL1 Zornitza Stark Gene: mical1 has been classified as Amber List (Moderate Evidence).
Mendeliome v0.9704 EFHC1 Zornitza Stark reviewed gene: EFHC1: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Mendeliome v0.9704 EFHC1 Bryony Thompson Classified gene: EFHC1 as Red List (low evidence)
Mendeliome v0.9704 EFHC1 Bryony Thompson Added comment: Comment on list classification: ClinGen Epilepsy GCEP gene-disease association curation: Disputed - We have disregarded the very limited functional evidence in light of the complete lack of genetic evidence connecting EFHC1 and epilepsy. In summary, there is convincing evidence disputing the association between EFHC1 and epilepsy. All variants in EFHC1 associated with epilepsy have contradictory evidence for disease association (too common in ExAC/gnomAD, with minor allele frequencies (MAF) of 2.857e-5 to 0.05973). More evidence is needed to either support or refute the role EFHC1 plays in this disease. Classification - 07/27/2018, reviewed Sept 2021
Mendeliome v0.9704 EFHC1 Bryony Thompson Gene: efhc1 has been classified as Red List (Low Evidence).
Mendeliome v0.9703 MICAL1 Bryony Thompson Classified gene: MICAL1 as Amber List (moderate evidence)
Mendeliome v0.9703 MICAL1 Bryony Thompson Gene: mical1 has been classified as Amber List (Moderate Evidence).