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| Aminoacidopathy v1.134 | GLS_GDPAG_GCA |
Bryony Thompson STR: GLS_GDPAG_GCA was added STR: GLS_GDPAG_GCA was added to Aminoacidopathy. Sources: Expert list Mode of inheritance for STR: GLS_GDPAG_GCA was set to BIALLELIC, autosomal or pseudoautosomal Publications for STR: GLS_GDPAG_GCA were set to 30970188 Phenotypes for STR: GLS_GDPAG_GCA were set to Global developmental delay, progressive ataxia, and elevated glutamine MIM#618412 Review for STR: GLS_GDPAG_GCA was set to GREEN STR: GLS_GDPAG_GCA was marked as clinically relevant STR: GLS_GDPAG_GCA was marked as current diagnostic Added comment: NM_014905.5(GLS):c.-212_-210GCA[X] 3 unrelated cases with glutaminase deficiency were compound heterozygous (2) or homozygous for expansion of the repeat, 680-900 repeats in blood samples and 400-110 repeats in fibroblasts. In an analysis of 8295 genomes the median size of the repeat was 14 repeats (8-16 repeats range). There was 1 heterozygous allele with 90 repeats. Functional assays suggest the predominant effect of the repeats is at the level of histone modifications. Epigenetic gene silencing is the mechanism of disease of the repeat. Other variant types are also reported with disease. Sources: Expert list |
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| Aminoacidopathy v1.133 | GCH1 | Bryony Thompson Mode of inheritance for gene: GCH1 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 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Aminoacidopathy v1.129 | GLS | Zornitza Stark Mode of inheritance for gene: GLS was changed from BIALLELIC, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Aminoacidopathy v1.128 | GLS | Zornitza Stark reviewed gene: GLS: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Glutaminase deficiency MONDO:0600001, Infantile cataract, skin abnormalities, glutamate excess, and impaired intellectual development MONDO:0032685; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Aminoacidopathy v1.128 | GLS |
Sangavi Sivagnanasundram edited their review of gene: GLS: Added comment: Classified as Moderate by ClinGen Aminoacidopathy GCEP on 26/07/2024 - https://search.clinicalgenome.org/CCID:004966 Two unrelated probands have been reported with an increased glutamate production level. Two missense variants have been reported (Ser482Cys and His461Leu - both absent from gnomAD v4.1). A zebrafish model partially recapitulated the disease.; Changed rating: AMBER; Changed mode of pathogenicity: Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments; Changed publications: 30239721, 37151363; Changed phenotypes: infantile cataract, skin abnormalities, glutamate excess, and impaired intellectual development MONDO:0032685; Changed mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted |
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| Aminoacidopathy v1.113 | GRM6 |
Sangavi Sivagnanasundram gene: GRM6 was added gene: GRM6 was added to Aminoacidopathy. Sources: Other Mode of inheritance for gene: GRM6 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: GRM6 were set to 22008250 Phenotypes for gene: GRM6 were set to GRM6-related retinopathy MONDO:0800397 Review for gene: GRM6 was set to GREEN Added comment: GRM6-related retinopathy is a glutamate neurotransmitter disorders affecting the ON-centre of the retinal ganglion cells. >5 unrelated families with a night blindness phenotype due to a defective signal transmission at the ON-centre. Sources: Other |
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| Aminoacidopathy v1.113 | SLC25A22 |
Sangavi Sivagnanasundram gene: SLC25A22 was added gene: SLC25A22 was added to Aminoacidopathy. Sources: Other Mode of inheritance for gene: SLC25A22 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: SLC25A22 were set to 15592994; 19780765; 24596948 Phenotypes for gene: SLC25A22 were set to Developmental and epileptic encephalopathy MONDO:0100062 Review for gene: SLC25A22 was set to GREEN Added comment: Established gene-disease association with reported individuals having impaired mitochondrial glutamate transport. Three unrelated families reported with three different rare missense variants. Sources: Other |
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| Aminoacidopathy v1.113 | XPNPEP3 |
Sangavi Sivagnanasundram gene: XPNPEP3 was added gene: XPNPEP3 was added to Aminoacidopathy. Sources: Other Mode of inheritance for gene: XPNPEP3 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: XPNPEP3 were set to 32660933; 20179356 Phenotypes for gene: XPNPEP3 were set to Nephronophthisis-like nephropathy 1 MONDO:0013163 Review for gene: XPNPEP3 was set to GREEN Added comment: XPNPEP3 is member of the X-pro-aminopeptidases family. A total of 3 unrelated families (with different variants) reported with abnormal renal function due to an inborn error of peptide metabolism 32660933 - individual case with a rare frameshift variant p.Q241Tfs*13 who also had evidence of an inborn error of peptide metabolism. Sources: Other |
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| Aminoacidopathy v1.113 | PEPD |
Sangavi Sivagnanasundram gene: PEPD was added gene: PEPD was added to Aminoacidopathy. Sources: Other Mode of inheritance for gene: PEPD was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: PEPD were set to 2365824; 19308961; 16470701 Phenotypes for gene: PEPD were set to Prolidase deficiency MONDO:0008221 Review for gene: PEPD was set to GREEN Added comment: Well established gene-disease association with >10 individuals reported with variants in PEPD and a clinical phenotype associated with prolidase deficiency. Prolidase deficiency is a classified inborn error of amino acid metabolism. LoF appears to be the mechanism of disease (https://search.clinicalgenome.org/CCID:007640) Sources: Other |
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| Aminoacidopathy v1.113 | PYCR2 | Sangavi Sivagnanasundram edited their review of gene: PYCR2: Changed rating: GREEN | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Aminoacidopathy v1.113 | PYCR2 |
Sangavi Sivagnanasundram changed review comment from: Has been reported in 10 consanguineous families with different variants (frameshift, missense, splice). The affected individuals all had neurological clinical presentation however upon biochemical assessment, plasma proline levels were normal (showed no depletion). There is not enough evidence to indicate that these individuals have a phenotype consistent with an inborn error of amino acid metabolism. Sources: Other; to: Has been reported in 10 consanguineous families with different variants (frameshift, missense, splice). The affected individuals all had neurological clinical presentation along with other phenotypes including failure to thrive. Sources: Other |
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| Aminoacidopathy v1.113 | PYCR2 |
Sangavi Sivagnanasundram gene: PYCR2 was added gene: PYCR2 was added to Aminoacidopathy. Sources: Other Mode of inheritance for gene: PYCR2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: PYCR2 were set to 25865492; 27130255 Phenotypes for gene: PYCR2 were set to Hypomyelinating leukodystrophy 10 MONDO:0014632; Disorders of ornithine, proline and hydroxyproline metabolism Review for gene: PYCR2 was set to RED Added comment: Has been reported in 10 consanguineous families with different variants (frameshift, missense, splice). The affected individuals all had neurological clinical presentation however upon biochemical assessment, plasma proline levels were normal (showed no depletion). There is not enough evidence to indicate that these individuals have a phenotype consistent with an inborn error of amino acid metabolism. Sources: Other |
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| Aminoacidopathy v1.113 | SLC7A5 |
Sangavi Sivagnanasundram gene: SLC7A5 was added gene: SLC7A5 was added to Aminoacidopathy. Sources: Other Mode of inheritance for gene: SLC7A5 was set to Unknown Publications for gene: SLC7A5 were set to 29884839 Phenotypes for gene: SLC7A5 were set to Large neutral amino acid transporter deficiency (MIM#600182) Review for gene: SLC7A5 was set to RED Added comment: Classified an inborn error of amino acid metabolism by IEMbase however more evidence is required to support the gene-disease association. Sources: Other |
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| Aminoacidopathy v1.113 | SLC6A20 |
Sangavi Sivagnanasundram gene: SLC6A20 was added gene: SLC6A20 was added to Aminoacidopathy. Sources: Other Mode of inheritance for gene: SLC6A20 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: SLC6A20 were set to 36820062; 19033659; 24816252 Phenotypes for gene: SLC6A20 were set to Hyperglycinuria MONDO:0007677 Review for gene: SLC6A20 was set to RED Added comment: Only one family reported with a rare missense variant and a clinical phenotype consistent with an inborn error of amino acid metabolism. Cases have been reported in 19033659 and 24816252 however the variant is too common for a mendelian disease. No other new publications have been released supporting the gene-disease association with relation to evidence of a biochemical abnormality. Sources: Other |
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| Aminoacidopathy v1.113 | NFE2L2 |
Sangavi Sivagnanasundram gene: NFE2L2 was added gene: NFE2L2 was added to Aminoacidopathy. Sources: Other Mode of inheritance for gene: NFE2L2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: NFE2L2 were set to 29018201 Phenotypes for gene: NFE2L2 were set to Immunodeficiency, developmental delay, and hypohomocysteinemia MONDO:0060591; Disorders of glutathione metabolism Review for gene: NFE2L2 was set to GREEN Added comment: 4 unrelated patients with de novo missense variants affected with a multisystem disorder with failure to thrive, immunodeficiency and neurological symptoms including an inborn error of amino acid metabolism. Sources: Other |
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| Aminoacidopathy v1.113 | GPX4 |
Sangavi Sivagnanasundram gene: GPX4 was added gene: GPX4 was added to Aminoacidopathy. Sources: Other Mode of inheritance for gene: GPX4 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: GPX4 were set to 24706940; 32827718 Phenotypes for gene: GPX4 were set to Spondylometaphyseal dysplasia, Sedaghatian type MONDO:0009593; Disorders of glutathione metabolism Review for gene: GPX4 was set to GREEN Added comment: SSMD is an inborn error of gluthathione metabolism. Reports of four children (two were siblings from a consanguineous family) with SSMD. Parents were unaffected carriers. LoF is the mechanism of disease. Sources: Other |
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| Aminoacidopathy v1.113 | GSR |
Sangavi Sivagnanasundram gene: GSR was added gene: GSR was added to Aminoacidopathy. Sources: Other Mode of inheritance for gene: GSR was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: GSR were set to 17185460; 31122244 Phenotypes for gene: GSR were set to Hemolytic anemia due to glutathione reductase deficiency MONDO:0019531; Disorders of glutathione metabolism Review for gene: GSR was set to AMBER Added comment: Not an established gene-disease association however there have been reports of two families reported with GR deficiency and there has been a report of functional evidence as well. More concrete evidence of biochemical abnormalities is required to promote the gene to green. Sources: Other |
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| Aminoacidopathy v1.113 | OPLAH |
Sangavi Sivagnanasundram gene: OPLAH was added gene: OPLAH was added to Aminoacidopathy. Sources: Other Mode of inheritance for gene: OPLAH was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: OPLAH were set to 27477828; 27604308 Phenotypes for gene: OPLAH were set to 5-oxoprolinase deficiency MONDO:0009825; Disorders of glutathione metabolism Review for gene: OPLAH was set to RED Added comment: Variants have been reported in individuals however it appears that this inborn error of glutathione metabolism appears to be of benign nature. Sources: Other |
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| Aminoacidopathy v1.113 | GCLC |
Sangavi Sivagnanasundram gene: GCLC was added gene: GCLC was added to Aminoacidopathy. Sources: Other Mode of inheritance for gene: GCLC was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: GCLC were set to 28571779; 10515893; 18024385 Phenotypes for gene: GCLC were set to Gamma-glutamylcysteine synthetase deficiency MONDO:0009259; Disorders of glutathione metabolism Review for gene: GCLC was set to GREEN Added comment: Established gene-disease association with >3 unrelated probands reported with GCLC deficiency which is an inborn error of amino acid metabolism. Sources: Other |
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| Aminoacidopathy v1.99 | TH | Zornitza Stark Marked gene: TH as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Aminoacidopathy v1.99 | TH | Zornitza Stark Gene: th has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Aminoacidopathy v1.99 | TH | Zornitza Stark Classified gene: TH as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Aminoacidopathy v1.99 | TH | Zornitza Stark Gene: th has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Aminoacidopathy v1.97 | GRHPR |
Sangavi Sivagnanasundram gene: GRHPR was added gene: GRHPR was added to Aminoacidopathy. Sources: Other Mode of inheritance for gene: GRHPR was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: GRHPR were set to 24116921 Phenotypes for gene: GRHPR were set to primary hyperoxaluria type 2 MONDO:0009824; Disorders of glyoxylate and oxalate metabolism Review for gene: GRHPR was set to GREEN Added comment: Well established gene - disease association with reported individuals having abnormal biochemical function. Sources: Other |
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| Aminoacidopathy v1.95 | HOGA1 |
Sangavi Sivagnanasundram gene: HOGA1 was added gene: HOGA1 was added to Aminoacidopathy. Sources: Other Mode of inheritance for gene: HOGA1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: HOGA1 were set to 26401545; 21896830; 20797690 Phenotypes for gene: HOGA1 were set to primary hyperoxaluria type 3 MONDO:0013327; Disorders of ornithine, proline and hydroxyproline metabolism Review for gene: HOGA1 was set to GREEN Added comment: Established gene-disease association with >4 unrelated individuals having evidence of abnormal biochemical function. Sources: Other |
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| Aminoacidopathy v1.95 | UROC1 |
Sangavi Sivagnanasundram gene: UROC1 was added gene: UROC1 was added to Aminoacidopathy. Sources: ClinGen Mode of inheritance for gene: UROC1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: UROC1 were set to 19304569; 30619714; 32439973; 27391121 Phenotypes for gene: UROC1 were set to urocanic aciduria MONDO:0010167 Review for gene: UROC1 was set to AMBER Added comment: The relationship between the phenotypes and evidence of biochemical abnormality remains unclear for this gene-disease association. Variants have been reported in 4 unrelated individuals however one individual was reported to be phenotypically asymptomatic except for evidence of urocanase deficiency in a biochemical assay (PMID: 30619714). Classified Moderate by Aminoacidopathy GCEP on 26/04/2024 - https://search.clinicalgenome.org/CCID:006504 Sources: ClinGen |
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| Aminoacidopathy v1.95 | TYR |
Sangavi Sivagnanasundram gene: TYR was added gene: TYR was added to Aminoacidopathy. Sources: ClinGen Mode of inheritance for gene: TYR was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: TYR were set to 2511845; 32411182; 31199599; 29052256 Phenotypes for gene: TYR were set to oculocutaneous albinism type 1 MONDO:0018135 Review for gene: TYR was set to GREEN Added comment: TYR encodes tyrosinase which vital in melanin synthesis. Reported individuals have an error in tyrosinase metabolism thus affecting melanin synthesis. >5 probands have been reported with errors in tyrosinase metabolism. Classified Definitive by Aminoacidopathy GCEP on 28/08/2020 - https://search.clinicalgenome.org/CCID:006490 Sources: ClinGen |
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| Aminoacidopathy v1.95 | TH |
Sangavi Sivagnanasundram gene: TH was added gene: TH was added to Aminoacidopathy. Sources: ClinGen Mode of inheritance for gene: TH was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: TH were set to 30383639; 29225908; 22264700; 12891655 Phenotypes for gene: TH were set to tyrosine hydroxylase deficiency MONDO:0100064 Review for gene: TH was set to GREEN Added comment: >10 unrelated probands reported with an inborn error in tyrosine metabolism. Classified Definitive by Aminoacidopathy GCEP on 22/03/2019 - https://search.clinicalgenome.org/CCID:006363 Sources: ClinGen |
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| Aminoacidopathy v1.95 | TDO2 |
Sangavi Sivagnanasundram gene: TDO2 was added gene: TDO2 was added to Aminoacidopathy. Sources: ClinGen Mode of inheritance for gene: TDO2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: TDO2 were set to 28285122 Phenotypes for gene: TDO2 were set to familial hypertryptophanemia MONDO:0010907 Review for gene: TDO2 was set to RED Added comment: Reported in one individual to date however there is evidence that this is a benign biochemical variant with no clinical significance. Classified Limitied by Aminoacidopathy GCEP on 17/11/2023 - https://search.clinicalgenome.org/CCID:006345 Sources: ClinGen |
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| Aminoacidopathy v1.95 | TAT |
Sangavi Sivagnanasundram gene: TAT was added gene: TAT was added to Aminoacidopathy. Sources: ClinGen Mode of inheritance for gene: TAT was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: TAT were set to 9544843; 16917729 Phenotypes for gene: TAT were set to tyrosinemia type II MONDO:0010160 Review for gene: TAT was set to GREEN Added comment: Well reported gene-disease association with affected individuals having reports of a deficiency in hepatic tyrosine aminotransferase (TAT). Classified Definitive by Aminoacidopathy GCEP on 29/06/2020 - https://search.clinicalgenome.org/CCID:006320 Sources: ClinGen |
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| Aminoacidopathy v1.95 | SUOX |
Sangavi Sivagnanasundram gene: SUOX was added gene: SUOX was added to Aminoacidopathy. Sources: ClinGen Mode of inheritance for gene: SUOX was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: SUOX were set to 28980090 Phenotypes for gene: SUOX were set to isolated sulfite oxidase deficiency MONDO:0010089 Review for gene: SUOX was set to GREEN Added comment: Well established gene-disease association (reported in >40 patients). Classified Definitive by Aminoacidopathy GCEP on 22/03/2019 - https://search.clinicalgenome.org/CCID:006301 Sources: ClinGen |
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| Aminoacidopathy v1.95 | SUGCT |
Sangavi Sivagnanasundram gene: SUGCT was added gene: SUGCT was added to Aminoacidopathy. Sources: ClinGen Mode of inheritance for gene: SUGCT was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: SUGCT were set to 18926513; 28766179; 29421601 Phenotypes for gene: SUGCT were set to glutaric acidemia type 3 MONDO:0009283 Review for gene: SUGCT was set to AMBER Added comment: There is uncertain clinical relevance for this gene-disease association - reports of different clinical phenotypes between affected individuals and potentially a benign condition. Variants have been reported in >3 unrelated affected probands however their clinical presentations vary. Classified Moderate by Aminoacidopathy GCEP on 12/12/2022- https://search.clinicalgenome.org/CCID:006299 Sources: ClinGen |
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| Aminoacidopathy v1.95 | SPR |
Sangavi Sivagnanasundram gene: SPR was added gene: SPR was added to Aminoacidopathy. Sources: ClinGen Mode of inheritance for gene: SPR was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: SPR were set to 33903016 Phenotypes for gene: SPR were set to dopa-responsive dystonia due to sepiapterin reductase deficiency MONDO:0012994 Review for gene: SPR was set to GREEN Added comment: Well-established gene-disease association with reported individuals having an inborn error of amino acid metabolism. Classified Definitive by Aminoacidopathy GCEP on 04/06/2021- https://search.clinicalgenome.org/CCID:006266 Sources: ClinGen |
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| Aminoacidopathy v1.95 | SLC7A9 |
Sangavi Sivagnanasundram gene: SLC7A9 was added gene: SLC7A9 was added to Aminoacidopathy. Sources: ClinGen Mode of inheritance for gene: SLC7A9 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: SLC7A9 were set to 23532419; 16609684; 25296721; 11157794; 10471498 Phenotypes for gene: SLC7A9 were set to cystinuria MONDO:0009067 Review for gene: SLC7A9 was set to GREEN Added comment: Established gene-disease association with reported individuals having errors in amino acid transport and metabolism. Classified Definitive by Aminoacidopathy GCEP on 29/06/2020 - https://search.clinicalgenome.org/CCID:006202 Sources: ClinGen |
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| Aminoacidopathy v1.95 | SLC7A7 |
Sangavi Sivagnanasundram gene: SLC7A7 was added gene: SLC7A7 was added to Aminoacidopathy. Sources: ClinGen Mode of inheritance for gene: SLC7A7 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: SLC7A7 were set to 10080182; 10080183; 15776247 Phenotypes for gene: SLC7A7 were set to lysinuric protein intolerance MONDO:0009109 Review for gene: SLC7A7 was set to GREEN Added comment: Reported in at least 8 probands all having an error in amino acid transport. LoF is the mechanism of disease. Classified Definitive by Aminoacidopathy GCEP on 08/11/2019 - https://search.clinicalgenome.org/CCID:006201 Sources: ClinGen |
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| Aminoacidopathy v1.95 | SLC6A8 |
Sangavi Sivagnanasundram gene: SLC6A8 was added gene: SLC6A8 was added to Aminoacidopathy. Sources: ClinGen Mode of inheritance for gene: SLC6A8 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Publications for gene: SLC6A8 were set to 27604308; 16738945 Phenotypes for gene: SLC6A8 were set to creatine transporter deficiency MONDO:0010305 Review for gene: SLC6A8 was set to GREEN Added comment: Well-established gene disease association with reported individuals having error in creatine transport. Classified Definitive by Aminoacidopathy GCEP on 10/02/2020 - https://search.clinicalgenome.org/CCID:006200 Sources: ClinGen |
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| Aminoacidopathy v1.95 | SLC6A6 |
Sangavi Sivagnanasundram gene: SLC6A6 was added gene: SLC6A6 was added to Aminoacidopathy. Sources: ClinGen Mode of inheritance for gene: SLC6A6 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: SLC6A6 were set to 31903486; 31345061 Phenotypes for gene: SLC6A6 were set to hypotaurinemic retinal degeneration and cardiomyopathy MONDO:0007777 Review for gene: SLC6A6 was set to AMBER Added comment: 4 individuals reported with retinal degeneration while 2 (who are siblings) also reported cardiomyopathy. The proband (one of the siblings) was given oral taurine supplementation that reversed their phenotype (cardiomyopathy was reversed and the retinal degeneration was halted) (PMID: 31903486). Classified Limited by Aminoacidopathy GCEP on 10/03/2023 - https://search.clinicalgenome.org/CCID:006199 Sources: ClinGen |
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| Aminoacidopathy v1.95 | SLC6A19 |
Sangavi Sivagnanasundram gene: SLC6A19 was added gene: SLC6A19 was added to Aminoacidopathy. Sources: ClinGen Mode of inheritance for gene: SLC6A19 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: SLC6A19 were set to 15286787; 15286788; 18484095 Phenotypes for gene: SLC6A19 were set to Hartnup disease MONDO:0009324 Review for gene: SLC6A19 was set to GREEN Added comment: Established gene-disease association with >10 probands reported with clinical symptoms assocation with Hartnup disease. Mechanism of disease is LoF with affected individuals having a defect in amino acid transportation. Classified Definitive by Aminoacidopathy GCEP on 07/05/2020 - https://search.clinicalgenome.org/CCID:006196 Sources: ClinGen |
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| Aminoacidopathy v1.95 | SLC3A1 |
Sangavi Sivagnanasundram gene: SLC3A1 was added gene: SLC3A1 was added to Aminoacidopathy. Sources: ClinGen Mode of inheritance for gene: SLC3A1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: SLC3A1 were set to 8054986; 16374432; 8486766 Phenotypes for gene: SLC3A1 were set to cystinuria MONDO:0009067 Review for gene: SLC3A1 was set to GREEN Added comment: Established gene-disease association with reported individuals having biochemical abnormalities affecting cystine transportation. Classified Definitive by Aminoacidopathy GCEP on 29/06/2020 - https://search.clinicalgenome.org/CCID:006188 Sources: ClinGen |
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| Aminoacidopathy v1.95 | SLC38A8 |
Sangavi Sivagnanasundram gene: SLC38A8 was added gene: SLC38A8 was added to Aminoacidopathy. Sources: ClinGen Mode of inheritance for gene: SLC38A8 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: SLC38A8 were set to 32744312; 24290379; 24045842; 25451601; 24290379 Phenotypes for gene: SLC38A8 were set to foveal hypoplasia - optic nerve decussation defect - anterior segment dysgenesis syndrome MONDO:0012216 Review for gene: SLC38A8 was set to GREEN Added comment: Reported in >5 unrelated probands with reported errors in glutamate/glutamine transport. Classified Definitive by Aminoacidopathy GCEP on 10/02/2023 - https://search.clinicalgenome.org/CCID:006184 Sources: ClinGen |
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| Aminoacidopathy v1.95 | SLC36A2 |
Sangavi Sivagnanasundram gene: SLC36A2 was added gene: SLC36A2 was added to Aminoacidopathy. Sources: ClinGen Mode of inheritance for gene: SLC36A2 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Publications for gene: SLC36A2 were set to 19033659; 26141664 Phenotypes for gene: SLC36A2 were set to iminoglycinuria MONDO:0009448 Review for gene: SLC36A2 was set to RED Added comment: IG phenotype is due to excess urinary excretion of proline, hydroxyproline and glycine which is thought to be benign. Variants have been reported in individuals with varying phenotypes - One homozygous individual reported with an IG phenotype while some heterozygous individuals reported to have hyperglycinuria. Biochemical abnormalities result in an IG phenotype is not a common clinical feature in the reported individuals. Classified Limitied by Aminoacidopathy GCEP on 11/04/2024 - https://search.clinicalgenome.org/CCID:006183 Sources: ClinGen |
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| Aminoacidopathy v1.95 | SLC25A15 |
Sangavi Sivagnanasundram gene: SLC25A15 was added gene: SLC25A15 was added to Aminoacidopathy. Sources: ClinGen Mode of inheritance for gene: SLC25A15 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: SLC25A15 were set to 25874378 Phenotypes for gene: SLC25A15 were set to ornithine translocase deficiency MONDO:0009393 (HHH Syndrome) Review for gene: SLC25A15 was set to GREEN Added comment: Well established gene-disease association with reported individuals presenting with a biochemical triad of abnormalities - hyperornithinemia, hyperammonemia, and homocitrullinuria (severity of the clinical symptoms can vary). Common variants in individuals with HHH syndrome p.Phe188del French Canadian Founder - NFE GrpMax AF - 0.004% (reported in 62 hets globally) p.Arg179X Commonly seen in Japanese patients - EAS GrpMax AF - 0.017% (reported in 26 hets globally) Classified Definitive by Aminoacidopathy GCEP on 04/12/2019 -https://search.clinicalgenome.org/CCID:006162 Sources: ClinGen |
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| Aminoacidopathy v1.95 | SLC25A13 |
Sangavi Sivagnanasundram gene: SLC25A13 was added gene: SLC25A13 was added to Aminoacidopathy. Sources: ClinGen Mode of inheritance for gene: SLC25A13 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: SLC25A13 were set to 18367750; 10369257; 19036621; 18392553; 11343053; 31607264 Phenotypes for gene: SLC25A13 were set to citrin deficiency MONDO:0016602 Review for gene: SLC25A13 was set to GREEN Added comment: Established gene-disease association with variants reported in >10 probands with reported biochemical abnormalities. Variants in this gene have been reported in both adult onset citrullinemia type 2 but also in individuals with neonatal intrahepatic cholestasis. Mechanism of disease is biallelic loss of function - significantly reduced or absent glutamate transport in and aspartate transport out of mitochondria depriving argininosuccinate synthetase leading to the accumulation of citrulline and ammonia. Classified Definitive by Aminoacidopathy GCEP on 23/07/2021 - https://search.clinicalgenome.org/CCID:006161 Sources: ClinGen |
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| Aminoacidopathy v1.95 | SLC1A4 |
Sangavi Sivagnanasundram gene: SLC1A4 was added gene: SLC1A4 was added to Aminoacidopathy. Sources: ClinGen Mode of inheritance for gene: SLC1A4 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: SLC1A4 were set to 25930971, 27711071, 29989513, 29652076, 26041762, 27193218, 30125339 Phenotypes for gene: SLC1A4 were set to spastic tetraplegia-thin corpus callosum-progressive postnatal microcephaly syndrome MONDO:0014725 Review for gene: SLC1A4 was set to GREEN Added comment: Reported in at least 9 individuals with reported biochemical abnormalities involving the L-serine transporter. Classified Definitive by Aminoacidopathy GCEP on 14/05/2021 - https://search.clinicalgenome.org/CCID:006155 Sources: ClinGen |
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| Aminoacidopathy v1.86 | MTHFR | Zornitza Stark Marked gene: MTHFR as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Aminoacidopathy v1.86 | MTHFR | Zornitza Stark Gene: mthfr has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Aminoacidopathy v1.86 | MTHFR | Zornitza Stark Classified gene: MTHFR as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Aminoacidopathy v1.86 | MTHFR | Zornitza Stark Gene: mthfr has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Aminoacidopathy v1.66 | SLC1A3 |
Sangavi Sivagnanasundram gene: SLC1A3 was added gene: SLC1A3 was added to Aminoacidopathy. Sources: ClinGen Mode of inheritance for gene: SLC1A3 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: SLC1A3 were set to 27829685, 16116111, 29062094, 19139306, 29208948, 29066757, 32754645, 25497598 Phenotypes for gene: SLC1A3 were set to episodic ataxia type 6 MONDO:0012982 Mode of pathogenicity for gene: SLC1A3 was set to Other Review for gene: SLC1A3 was set to GREEN Added comment: Variants reported in 8 unrelated probands with reported errors in glutamate metabolism. Mechanism of disease varies depending on the mutation. The most severe variants (p.M128R, p.P290R, and p.T318A) appear to have gain of function mechanism. Classified as Definitive by ClinGen Aminoacidopathy GCEP on 09/10/2020 https://search.clinicalgenome.org/CCID:006154 Sources: ClinGen |
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| Aminoacidopathy v1.66 | SLC1A2 |
Sangavi Sivagnanasundram gene: SLC1A2 was added gene: SLC1A2 was added to Aminoacidopathy. Sources: ClinGen Mode of inheritance for gene: SLC1A2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: SLC1A2 were set to 23934111; 27476654; 28777935; 30937933 Phenotypes for gene: SLC1A2 were set to developmental and epileptic encephalopathy, 41 MONDO:0014916 Review for gene: SLC1A2 was set to GREEN Added comment: Reported variants in 6 unrelated probands. The mechanism of disease is heterozygous dominant negative. Classified as Definitive by ClinGen Aminoacidopathy GCEP on 29/10/2020 https://search.clinicalgenome.org/CCID:006153 Sources: ClinGen |
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| Aminoacidopathy v1.66 | SLC1A1 |
Sangavi Sivagnanasundram gene: SLC1A1 was added gene: SLC1A1 was added to Aminoacidopathy. Sources: ClinGen Mode of inheritance for gene: SLC1A1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: SLC1A1 were set to 21123949 Phenotypes for gene: SLC1A1 were set to dicarboxylic aminoaciduria MONDO:0009110 Review for gene: SLC1A1 was set to AMBER Added comment: Reported in 2 unrelated probands along with a mouse knockout model recapitulating human phenotype. Classified as Limited by ClinGen Aminoacidopathy GCEP on 12/12/2022 https://search.clinicalgenome.org/CCID:006152 Sources: ClinGen |
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| Aminoacidopathy v1.66 | SHMT2 |
Sangavi Sivagnanasundram gene: SHMT2 was added gene: SHMT2 was added to Aminoacidopathy. Sources: ClinGen Mode of inheritance for gene: SHMT2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: SHMT2 were set to 33015733; 35398349; 29323231 Phenotypes for gene: SHMT2 were set to neurodevelopmental disorder with cardiomyopathy, spasticity, and brain abnormalities MONDO:0030866 Review for gene: SHMT2 was set to GREEN Added comment: Reported in 5 unrelated probands with abnormal biochemical function. Classified as Moderate by ClinGen Aminoacidopathy GCEP on 11/11/2022 https://search.clinicalgenome.org/CCID:006136 Sources: ClinGen |
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| Aminoacidopathy v1.66 | SELENBP1 |
Sangavi Sivagnanasundram gene: SELENBP1 was added gene: SELENBP1 was added to Aminoacidopathy. Sources: ClinGen Mode of inheritance for gene: SELENBP1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: SELENBP1 were set to 29255262 Phenotypes for gene: SELENBP1 were set to extraoral halitosis due to methanethiol oxidase deficiency MONDO:0029144 Review for gene: SELENBP1 was set to GREEN Added comment: 3 unrelated probands in one publication. All reported individuals had a “cabbage-like” breath odour due to the elevated levels of methanethiol and dimethylsulfide in their breath. Knockout mouse model recapitulating the human phenotype including the biochemical characteristics. Classified as Moderate by ClinGen Aminoacidopathy GCEP on 11/11/2022 https://search.clinicalgenome.org/CCID:006103 Sources: ClinGen |
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| Aminoacidopathy v1.66 | SARDH |
Sangavi Sivagnanasundram gene: SARDH was added gene: SARDH was added to Aminoacidopathy. Sources: ClinGen Mode of inheritance for gene: SARDH was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: SARDH were set to 22825317 Phenotypes for gene: SARDH were set to sarcosinemia MONDO:0010008 Review for gene: SARDH was set to RED Added comment: The clinical phenotypes vary and sarcosinemia is considered a benign condition. Classified as Limited by ClinGen Aminoacidopathy GCEP on 12/12/2022 https://search.clinicalgenome.org/CCID:006052 Sources: ClinGen |
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| Aminoacidopathy v1.66 | QDPR |
Sangavi Sivagnanasundram gene: QDPR was added gene: QDPR was added to Aminoacidopathy. Sources: ClinGen Mode of inheritance for gene: QDPR was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: QDPR were set to 14114862; 3033643; 11153907; 9341885; 19099731 Phenotypes for gene: QDPR were set to dihydropteridine reductase deficiency MONDO:0009862 Review for gene: QDPR was set to GREEN Added comment: Well established gene disease association. LoF is a mechanism of disease. Classified as Definitive by ClinGen Aminoacidopathy GCEP on 18/06/2018 https://search.clinicalgenome.org/CCID:005939 Sources: ClinGen |
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| Aminoacidopathy v1.66 | PYCR1 |
Sangavi Sivagnanasundram gene: PYCR1 was added gene: PYCR1 was added to Aminoacidopathy. Sources: ClinGen Mode of inheritance for gene: PYCR1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: PYCR1 were set to 19576563; 19648921 Phenotypes for gene: PYCR1 were set to autosomal recessive cutis laxa type 2B MONDO:0013051 Review for gene: PYCR1 was set to GREEN Added comment: Established gene disease association with reported individuals having an inborn error of proline metabolism. Classified as Definitive by ClinGen Aminoacidopathy GCEP on 21/05/2020 https://search.clinicalgenome.org/CCID:005936 Sources: ClinGen |
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| Aminoacidopathy v1.66 | PTS |
Sangavi Sivagnanasundram gene: PTS was added gene: PTS was added to Aminoacidopathy. Sources: ClinGen Mode of inheritance for gene: PTS was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: PTS were set to 22729819; 21542064; 20059486 Phenotypes for gene: PTS were set to BH4-deficient hyperphenylalaninemia A MONDO:0009863 Review for gene: PTS was set to GREEN Added comment: Well established gene-disease association. >5 unrelated individuals reported with a biochemical phenotype. LoF is the mechanism of disease. Classified as Definitive by ClinGen Aminoacidopathy GCEP on 22/12/2017 https://search.clinicalgenome.org/CCID:005931 Sources: ClinGen |
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| Aminoacidopathy v1.66 | PSPH |
Sangavi Sivagnanasundram gene: PSPH was added gene: PSPH was added to Aminoacidopathy. Sources: ClinGen Mode of inheritance for gene: PSPH was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: PSPH were set to 26589312, 25080166, 14673469; 27604308; 26888760; 25152457 Phenotypes for gene: PSPH were set to neurometabolic disorder due to serine deficiency MONDO:0018162 Review for gene: PSPH was set to GREEN Added comment: Established gene disease assocation. Reported in >5 unrelated individuals with biochemical phenotypes. Classified as Moderate by ClinGen Aminoacidopathy GCEP on 12/12/2022 https://search.clinicalgenome.org/CCID:005917 Sources: ClinGen |
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| Aminoacidopathy v1.66 | PSAT1 |
Sangavi Sivagnanasundram gene: PSAT1 was added gene: PSAT1 was added to Aminoacidopathy. Sources: ClinGen Mode of inheritance for gene: PSAT1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: PSAT1 were set to 26610677; 12633500; 27626380; 32077105 Phenotypes for gene: PSAT1 were set to neurometabolic disorder due to serine deficiency MONDO:0018162 Review for gene: PSAT1 was set to GREEN Added comment: Well established gene disease association with reported individuals having errors in serine deficiency. Severity of the condition depends on the residual enzyme activity. Classified as Definitive by ClinGen Aminoacidopathy GCEP on 29/06/2020 https://search.clinicalgenome.org/CCID:005912 Sources: ClinGen |
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| Aminoacidopathy v1.66 | PRODH2 |
Sangavi Sivagnanasundram gene: PRODH2 was added gene: PRODH2 was added to Aminoacidopathy. Sources: ClinGen Mode of inheritance for gene: PRODH2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: PRODH2 were set to 27139199 Phenotypes for gene: PRODH2 were set to hydroxyprolinemia MONDO:0009374 Review for gene: PRODH2 was set to RED Added comment: PMID: 27139199 Variants reported in 6 individuals however only 2 cases presented with intermittant biochemical phenotype however the cause remains unclear. The rest of the individuals were asymptomatic suggesting that hydroxyprolinemia is a benign condition. Classified as Limited by ClinGen Aminoacidopathy GCEP on 12/12/2022 https://search.clinicalgenome.org/CCID:005893 Sources: ClinGen |
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| Aminoacidopathy v1.66 | PRODH |
Sangavi Sivagnanasundram gene: PRODH was added gene: PRODH was added to Aminoacidopathy. Sources: ClinGen Mode of inheritance for gene: PRODH was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: PRODH were set to 12217952 Phenotypes for gene: PRODH were set to hyperprolinemia type 1 MONDO:0009400 Review for gene: PRODH was set to GREEN Added comment: Well established gene disease association with reported individuals having an inborn error of proline metabolism. Reported affected individuals have reported 2-10 times the normal plasma proline level. Classified as Moderate by ClinGen Aminoacidopathy GCEP on 27/04/2021 https://search.clinicalgenome.org/CCID:005892 Sources: ClinGen |
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| Aminoacidopathy v1.66 | PHYKPL |
Sangavi Sivagnanasundram gene: PHYKPL was added gene: PHYKPL was added to Aminoacidopathy. Sources: ClinGen Mode of inheritance for gene: PHYKPL was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: PHYKPL were set to 23242558 Phenotypes for gene: PHYKPL were set to phosphohydroxylysinuria MONDO:0014008 Review for gene: PHYKPL was set to RED Added comment: Chet individual reported with variants in this gene and a phenotype similar to EDS. This individual was not reported to any metabolic phenotype. No other reports published at this stage to support gene-disease association. Classified as Limitied by ClinGen Aminoacidopathy GCEP on 17/11/2023 https://search.clinicalgenome.org/CCID:005792 Sources: ClinGen |
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| Aminoacidopathy v1.66 | PHGDH |
Sangavi Sivagnanasundram gene: PHGDH was added gene: PHGDH was added to Aminoacidopathy. Sources: ClinGen Mode of inheritance for gene: PHGDH was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: PHGDH were set to 37347880; 19235232; 24836451; 28440900; 22393170; 25913727 Phenotypes for gene: PHGDH were set to neurometabolic disorder due to serine deficiency MONDO:0018162 Review for gene: PHGDH was set to GREEN Added comment: Established gene-disease association. >10 unrelated probands reported with an inborn error of serine deficiency. LoF is the mechanism of disease (PMID: 37347880). Classified as Definitive by ClinGen Aminoacidopathy GCEP on 29/06/2020 https://search.clinicalgenome.org/CCID:005786 Sources: ClinGen |
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| Aminoacidopathy v1.66 | PCBD1 |
Sangavi Sivagnanasundram gene: PCBD1 was added gene: PCBD1 was added to Aminoacidopathy. Sources: ClinGen Mode of inheritance for gene: PCBD1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: PCBD1 were set to 19234759 Phenotypes for gene: PCBD1 were set to pterin-4 alpha-carbinolamine dehydratase 1 deficiency MONDO:0009908 Review for gene: PCBD1 was set to GREEN Added comment: Well established gene disease association with affected individuals having a transient hyperphenylalaninemia phenotype. Mechanism of disease appears to be a defect in BH4 regeneration leading to an excess build up of phenylalanine and primapterim levels in blood, urine and tissues (PMID: 19234759) Classified as Definitive by ClinGen Aminoacidopathy GCEP on 27/07/2021 https://search.clinicalgenome.org/CCID:005739 Sources: ClinGen |
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| Aminoacidopathy v1.66 | PAH |
Sangavi Sivagnanasundram gene: PAH was added gene: PAH was added to Aminoacidopathy. Sources: ClinGen Mode of inheritance for gene: PAH was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: PAH were set to 1301187, 13138177 Phenotypes for gene: PAH were set to phenylketonuria MONDO:0009861 Review for gene: PAH was set to GREEN Added comment: Well-established gene-disease association. Affected individuals reported to have an inborn error of phenylalanine metabolism. LoF is the established mechanism of disease (PMID:1301187). Classified as Definitive by ClinGen Aminoacidopathy GCEP on 24/04/2020 https://search.clinicalgenome.org/CCID:005722 Sources: ClinGen |
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| Aminoacidopathy v1.66 | OTC |
Sangavi Sivagnanasundram gene: OTC was added gene: OTC was added to Aminoacidopathy. Sources: Other Mode of inheritance for gene: OTC was set to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) Publications for gene: OTC were set to 26059767 Phenotypes for gene: OTC were set to ornithine carbamoyltransferase deficiency MONDO:0010703 Review for gene: OTC was set to GREEN Added comment: Well established gene-disease association where affected individuals have a deficiency in carbamoyltransferase which affects the urea cycle. Classified as Definitive by ClinGen Aminoacidopathy GCEP on 29/10/2019 https://search.clinicalgenome.org/CCID:005712 Sources: Other |
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| Aminoacidopathy v1.66 | OAT |
Sangavi Sivagnanasundram gene: OAT was added gene: OAT was added to Aminoacidopathy. Sources: ClinGen Mode of inheritance for gene: OAT was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: OAT were set to 609808; 23076989; 24429551; 25264521 Phenotypes for gene: OAT were set to ornithine aminotransferase deficiency MONDO:0009796 Review for gene: OAT was set to GREEN Added comment: Established gene disease association with mouse model recapitulating human phenotype. Classified DEFINITIVE by ClinGen Aminoacidopathy GCEP on 10/07/2019 - https://search.clinicalgenome.org/CCID:005692 Sources: ClinGen |
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| Aminoacidopathy v1.66 | NAT8L |
Sangavi Sivagnanasundram gene: NAT8L was added gene: NAT8L was added to Aminoacidopathy. Sources: ClinGen Mode of inheritance for gene: NAT8L was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: NAT8L were set to 19807691 Phenotypes for gene: NAT8L were set to N-acetylaspartate deficiency MONDO:0013549 Review for gene: NAT8L was set to RED Added comment: Reported in one individual with N-acetylaspartate deficiency but also has other severe neurological features however the gene-disease association in this individual is unclear. Classified LIMITED by ClinGen Aminoacidopathy GCEP on 29/03/2024 - https://search.clinicalgenome.org/CCID:005565 Sources: ClinGen |
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| Aminoacidopathy v1.66 | NAGS |
Sangavi Sivagnanasundram gene: NAGS was added gene: NAGS was added to Aminoacidopathy. Sources: ClinGen Mode of inheritance for gene: NAGS was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: NAGS were set to 15714518; 27037498; 22503289 Phenotypes for gene: NAGS were set to hyperammonemia due to N-acetylglutamate synthase deficiency MONDO:0009377 Review for gene: NAGS was set to GREEN Added comment: Established gene-disease with reported individuals having an urea cycle disorder. Classified DEFINITIVE by ClinGen Aminoacidopathy GCEP on 26/07/2019 - https://search.clinicalgenome.org/CCID:005562 Sources: ClinGen |
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| Aminoacidopathy v1.66 | MTRR |
Sangavi Sivagnanasundram gene: MTRR was added gene: MTRR was added to Aminoacidopathy. Sources: ClinGen Mode of inheritance for gene: MTRR was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: MTRR were set to 10484769; 12555939; 15714522; 17369066 Phenotypes for gene: MTRR were set to methylcobalamin deficiency type cblE MONDO:0009354 Review for gene: MTRR was set to GREEN Added comment: Well established gene-disease association with reported individuals having errors in cobalamin metabolism. Classified DEFINITIVE by ClinGen Aminoacidopathy GCEP on 02/7/2021 - https://search.clinicalgenome.org/CCID:005505 Sources: ClinGen |
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| Aminoacidopathy v1.66 | MTR |
Sangavi Sivagnanasundram gene: MTR was added gene: MTR was added to Aminoacidopathy. Sources: ClinGen Mode of inheritance for gene: MTR was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: MTR were set to 12068375; 30651581; 31951343 Phenotypes for gene: MTR were set to methylcobalamin deficiency type cblG MONDO:0009609 Review for gene: MTR was set to GREEN Added comment: Well established gene-disease association with reported individuals having a deficiency methionine synthase. Classified as DEFINITIVE by ClinGen Aminoacidopathy GCEP on 02/7/2021 - https://search.clinicalgenome.org/CCID:005503 Sources: ClinGen |
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| Aminoacidopathy v1.66 | MTHFR |
Sangavi Sivagnanasundram gene: MTHFR was added gene: MTHFR was added to Aminoacidopathy. Sources: ClinGen Mode of inheritance for gene: MTHFR was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: MTHFR were set to 26872964 Phenotypes for gene: MTHFR were set to homocystinuria due to methylene tetrahydrofolate reductase deficiency MONDO:0009353 Review for gene: MTHFR was set to GREEN Added comment: Established gene-disease association with reported individuals having reported elevated homocysteine and decreased methionine. Classified as DEFINITIVE by ClinGen Aminoacidopathy GCEP on 18/06/2019 - https://search.clinicalgenome.org/CCID:005497 Sources: ClinGen |
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| Aminoacidopathy v1.66 | MPST |
Sangavi Sivagnanasundram gene: MPST was added gene: MPST was added to Aminoacidopathy. Sources: ClinGen Mode of inheritance for gene: MPST was set to Unknown Phenotypes for gene: MPST were set to encephalopathy due to beta-mercaptolactate-cysteine disulfiduria MONDO:0009585 Review for gene: MPST was set to RED Added comment: No reported individuals with deficiency in MPST enzymatic activity. No known disease relationship classification given by ClinGen Aminoacidopathy GCEP on 28/04/2023 - https://search.clinicalgenome.org/CCID:005413 Sources: ClinGen |
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| Aminoacidopathy v1.66 | MMACHC |
Sangavi Sivagnanasundram gene: MMACHC was added gene: MMACHC was added to Aminoacidopathy. Sources: ClinGen Mode of inheritance for gene: MMACHC was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: MMACHC were set to 26149271; 28693988; 18164228; 16963011; 30157807; 16311595; 23580368 Phenotypes for gene: MMACHC were set to methylmalonic aciduria and homocystinuria type cblC MONDO:0010184 Review for gene: MMACHC was set to GREEN Added comment: Well established gene disease association with reported individuals having errors in biochemical function. Classified as DEFINITIVE by ClinGen Aminoacidopathy GCEP on 29/06/2020 - https://search.clinicalgenome.org/CCID:005397 Sources: ClinGen |
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| Aminoacidopathy v1.66 | MCEE |
Sangavi Sivagnanasundram gene: MCEE was added gene: MCEE was added to Aminoacidopathy. Sources: ClinGen Mode of inheritance for gene: MCEE was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: MCEE were set to 16697227; 17823972; 27699154; 29104221; 30682498; 31146325 Phenotypes for gene: MCEE were set to methylmalonic acidemia due to methylmalonyl-CoA epimerase deficiency MONDO:0009615 Review for gene: MCEE was set to GREEN Added comment: Established gene-disease association with >10 probands reported with variants in this gene. Classified as DEFINITIVE by ClinGen Aminoacidopathy GCEP on 09/07/2020 - https://search.clinicalgenome.org/CCID:005348 Sources: ClinGen |
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| Aminoacidopathy v1.66 | MAT1A |
Sangavi Sivagnanasundram gene: MAT1A was added gene: MAT1A was added to Aminoacidopathy. Sources: ClinGen Mode of inheritance for gene: MAT1A was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: MAT1A were set to 9042912; 11320206 Phenotypes for gene: MAT1A were set to methionine adenosyltransferase deficiency MONDO:0009607 Mode of pathogenicity for gene: MAT1A was set to Other Review for gene: MAT1A was set to GREEN Added comment: Well established gene-disease association. Dominant negative appears to be the mechanism of disease. Classified as DEFINITIVE by ClinGen Aminoacidopathy GCEP on 13/09/2019 - https://search.clinicalgenome.org/CCID:005340 Sources: ClinGen |
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| Aminoacidopathy v1.59 | LMBRD1 |
Sangavi Sivagnanasundram gene: LMBRD1 was added gene: LMBRD1 was added to Aminoacidopathy. Sources: ClinGen Mode of inheritance for gene: LMBRD1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: LMBRD1 were set to 20301503; 19136951; 32875039; 20127417; 21303734 Phenotypes for gene: LMBRD1 were set to methylmalonic aciduria and homocystinuria type cblF MONDO:0010183 Review for gene: LMBRD1 was set to GREEN Added comment: Classified Definitive by ClinGen Aminoacidopathy GCEP on 26/03/2021 - https://search.clinicalgenome.org/CCID:005290 Reported in multiple individuals with evidence of defective cobalamin metabolism. Mechanism of disease appears to be loss of function leading to a defective release of cobalamin from lysosomes. Sources: ClinGen |
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| Aminoacidopathy v1.59 | KYNU | Sangavi Sivagnanasundram edited their review of gene: KYNU: Changed publications: 37499065, 28792876, 33942433, 31923704, 17334708, 34200361 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Aminoacidopathy v1.59 | KYNU |
Sangavi Sivagnanasundram gene: KYNU was added gene: KYNU was added to Aminoacidopathy. Sources: ClinGen Mode of inheritance for gene: KYNU was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: KYNU were set to 37499065, 28792876, 33942433, 31923704, 17334708, 34200361 Phenotypes for gene: KYNU were set to vertebral, cardiac, renal, and limb defects syndrome 2 MONDO:0060555 Review for gene: KYNU was set to GREEN Added comment: Classified Definitive by ClinGen Aminoacidopathy GCEP on 12/05/2023 - https://search.clinicalgenome.org/CCID:005259 Reported in >5 unrelated probands with an error in synthesis of NAD from tryptophan. Mouse model recapitulates human phenotype while on a NAD-restricted diet. Sources: ClinGen |
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| Aminoacidopathy v1.59 | KMO |
Sangavi Sivagnanasundram gene: KMO was added gene: KMO was added to Aminoacidopathy. Sources: ClinGen Mode of inheritance for gene: KMO was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: KMO were set to 28187857, 24189070 Phenotypes for gene: KMO were set to pellagra MONDO:0019975 Review for gene: KMO was set to RED Added comment: Classified as no known disease relationship by ClinGen Aminoacidopathy GCEP on 12/05/2023 - https://search.clinicalgenome.org/CCID:005248 Only two knock out mouse models have ben reported that exhibited behavioural changes including memory impairment and anxiety like behaviour. Not reported as disease causing in any affected individuals at this stage and no evidence of any inborn errors of amino acid metabolism. Sources: ClinGen |
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| Aminoacidopathy v1.59 | HYKK |
Sangavi Sivagnanasundram gene: HYKK was added gene: HYKK was added to Aminoacidopathy. Sources: ClinGen Mode of inheritance for gene: HYKK was set to Unknown Publications for gene: HYKK were set to 23242558 Phenotypes for gene: HYKK were set to inborn disorder of lysine and hydroxylysine metabolism MONDO:0017351 Review for gene: HYKK was set to RED Added comment: No known gene-disease association as classified by ClinGen Aminoacidopathy GCEP on 14/07/2023 - https://search.clinicalgenome.org/CCID:005104 HYKK has been reported as a disorders of lysine, hydroxylysine, and tryptophan metabolism by ICIMD however there are no reported pathogenic variants in this gene to support the gene-disease association. Sources: ClinGen |
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| Aminoacidopathy v1.59 | HPD |
Sangavi Sivagnanasundram gene: HPD was added gene: HPD was added to Aminoacidopathy. Sources: ClinGen Mode of inheritance for gene: HPD was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Publications for gene: HPD were set to 10942115, 11073718, 28649543, 11073718, 31342835 Phenotypes for gene: HPD were set to tyrosinemia type III MONDO:0010162; hawkinsinuria MONDO:0007700 Review for gene: HPD was set to GREEN Added comment: Tyrosinemia type III - AR and Hawkinsinuria - AD ClinGen classified limited evidence for the AD gene-disease association on 17/11/2023 and definitive for AR gene-disease association on 29/06/2020. Established gene-disease association. Reported individuals reported with inborn errors of amino acid metabolism. Sources: ClinGen |
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| Aminoacidopathy v1.59 | HIBADH |
Sangavi Sivagnanasundram gene: HIBADH was added gene: HIBADH was added to Aminoacidopathy. Sources: ClinGen Mode of inheritance for gene: HIBADH was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: HIBADH were set to 34176136; 35174513 Phenotypes for gene: HIBADH were set to 3-hydroxyisobutyric aciduria MONDO:0009371 Review for gene: HIBADH was set to RED Added comment: Classified Limited by ClinGen Aminoacidopathy GCEP on 24/03/2023 - https://search.clinicalgenome.org/CCID:005058 Reported in 3 probands however there is lack of clinical evidence to show that hydroxyisobutyrate dehydrogenase deficiency leads to their clinical phenotype. Sources: ClinGen |
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| Aminoacidopathy v1.59 | HGD |
Sangavi Sivagnanasundram gene: HGD was added gene: HGD was added to Aminoacidopathy. Sources: ClinGen Mode of inheritance for gene: HGD was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: HGD were set to 8782815; 9529363; 9154114; 9674916 Phenotypes for gene: HGD were set to alkaptonuria MONDO:0008753 Review for gene: HGD was set to GREEN Added comment: Classified Definitive by ClinGen Aminoacidopathy GCEP on 29/06/2020 - https://search.clinicalgenome.org/CCID:005055 Well established gene-disease association with reported individuals showing evidence of abnormal biochemical function. Sources: ClinGen |
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| Aminoacidopathy v1.47 | HAL |
Sangavi Sivagnanasundram gene: HAL was added gene: HAL was added to Aminoacidopathy. Sources: ClinGen Mode of inheritance for gene: HAL was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: HAL were set to 15806399 Phenotypes for gene: HAL were set to histidinemia MONDO:0009345 Review for gene: HAL was set to RED Added comment: Classified Limited by ClinGen Aminoacidopathy GCEP on 17/11/2023 - https://search.clinicalgenome.org/CCID:005031 Metabolic disorder appears to be benign in most reported affected individuals. Sources: ClinGen |
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| Aminoacidopathy v1.47 | HAAO |
Sangavi Sivagnanasundram gene: HAAO was added gene: HAAO was added to Aminoacidopathy. Sources: ClinGen Mode of inheritance for gene: HAAO was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: HAAO were set to 37499065; 28792876; 33942433 Phenotypes for gene: HAAO were set to vertebral, cardiac, renal, and limb defects syndrome 1 MONDO:0060554 Review for gene: HAAO was set to GREEN Added comment: Classified Definitive by ClinGen Aminoacidopathy GCEP on 24/06/2022 - https://search.clinicalgenome.org/CCID:005026 Reported in >3 unrelated probands with biochemical abnormalities. LoF appears to be the mechanism of disease. Sources: ClinGen |
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| Aminoacidopathy v1.47 | GSTZ1 |
Sangavi Sivagnanasundram gene: GSTZ1 was added gene: GSTZ1 was added to Aminoacidopathy. Sources: ClinGen Mode of inheritance for gene: GSTZ1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: GSTZ1 were set to 27876694 Phenotypes for gene: GSTZ1 were set to maleylacetoacetate isomerase deficiency MONDO:0060527 Review for gene: GSTZ1 was set to RED Added comment: Classified Moderate by ClinGen Aminoacidopathy GCEP on 09/09/2022 -https://search.clinicalgenome.org/CCID:005017 6 probands have been reported with mild hypersuccinylacetonaemia (MHSA). The reported individuals remained well without receiving any treatment or change in diet. Sources: ClinGen |
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| Aminoacidopathy v1.47 | GSS |
Sangavi Sivagnanasundram gene: GSS was added gene: GSS was added to Aminoacidopathy. Sources: ClinGen Mode of inheritance for gene: GSS was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: GSS were set to 17397529 Phenotypes for gene: GSS were set to inherited glutathione synthetase deficiency MONDO:0017909 Review for gene: GSS was set to GREEN Added comment: Classified Definitive by ClinGen Aminoacidopathy GCEP on 26/04/2019 -https://search.clinicalgenome.org/CCID:005016 Well established gene-disease association with reported individuals having errors in glutathione metabolism. Sources: ClinGen |
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| Aminoacidopathy v1.47 | GNMT |
Sangavi Sivagnanasundram gene: GNMT was added gene: GNMT was added to Aminoacidopathy. Sources: ClinGen Mode of inheritance for gene: GNMT was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: GNMT were set to 11810299; 14739680 Phenotypes for gene: GNMT were set to glycine N-methyltransferase deficiency MONDO:0011698 Review for gene: GNMT was set to RED Added comment: Classified Limited by ClinGen Aminoacidopathy GCEP on 12/12/2022 -https://search.clinicalgenome.org/CCID:004979 Sources: ClinGen |
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| Aminoacidopathy v1.47 | GLUL |
Sangavi Sivagnanasundram gene: GLUL was added gene: GLUL was added to Aminoacidopathy. Sources: ClinGen Mode of inheritance for gene: GLUL was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: GLUL were set to 25870278; 20140959; 30053506 Phenotypes for gene: GLUL were set to congenital brain dysgenesis due to glutamine synthetase deficiency MONDO:0012393 Review for gene: GLUL was set to GREEN Added comment: Classified Moderate by ClinGen Aminoacidopathy GCEP on 12/12/2022 - https://search.clinicalgenome.org/CCID:004969 At least 5 probands from 4 unrelated families reported with glutamine deficiency. Sources: ClinGen |
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| Aminoacidopathy v1.47 | GLUD1 |
Sangavi Sivagnanasundram gene: GLUD1 was added gene: GLUD1 was added to Aminoacidopathy. Sources: ClinGen Mode of inheritance for gene: GLUD1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: GLUD1 were set to 9571255; 11214910; 26759084 Phenotypes for gene: GLUD1 were set to hyperinsulinism-hyperammonemia syndrome MONDO:0011717 Review for gene: GLUD1 was set to GREEN Added comment: Classified Definitive by ClinGen Aminoacidopathy GCEP on 13/11/2020 - https://search.clinicalgenome.org/CCID:004968 Well-established gene disease association with reported individuals having a metabolic abnormality. Sources: ClinGen |
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| Aminoacidopathy v1.47 | GLS |
Sangavi Sivagnanasundram gene: GLS was added gene: GLS was added to Aminoacidopathy. Sources: ClinGen Mode of inheritance for gene: GLS was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: GLS were set to 29468182, 30575854, 30970188; 16641247 Phenotypes for gene: GLS were set to glutaminase deficiency MONDO:0600001 Review for gene: GLS was set to GREEN Added comment: Classified Definitive by ClinGen Aminoacidopathy GCEP on 09/07/2021 - https://search.clinicalgenome.org/CCID:004965 6 probands have been reported with glutaminase deficiency. Nonsense, framshift and missense variants have been reported. 5’UTR repeat expansion (680-1500 repeats; normal range 8-16 repeats) has also been reported. Mouse model was also conducted that recapitulates the human phenotype (PMID: 16641247). Sources: ClinGen |
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| Aminoacidopathy v1.47 | GLDC |
Sangavi Sivagnanasundram gene: GLDC was added gene: GLDC was added to Aminoacidopathy. Sources: ClinGen Mode of inheritance for gene: GLDC was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: GLDC were set to 25736695; 27362913; 26179960; 24407464 Phenotypes for gene: GLDC were set to glycine encephalopathy MONDO:0011612 Review for gene: GLDC was set to GREEN Added comment: Classified Definitive by ClinGen Aminoacidopathy GCEP on 06/02/2019 - https://search.clinicalgenome.org/CCID:004962 Well reported gene-disease association with reported individuals present with glycine encephalopathy. Sources: ClinGen |
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| Aminoacidopathy v1.47 | GCSH |
Sangavi Sivagnanasundram gene: GCSH was added gene: GCSH was added to Aminoacidopathy. Sources: ClinGen Mode of inheritance for gene: GCSH was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: GCSH were set to 33890291; 36190515; 33569080 Phenotypes for gene: GCSH were set to glycine encephalopathy MONDO:0011612 Review for gene: GCSH was set to GREEN Added comment: Classified Strong by ClinGen Aminoacidopathy GCEP on 10/02/2023 - https://search.clinicalgenome.org/CCID:004937 Reported in 7 individuals with abnormal biochemical metabolism. Sources: ClinGen |
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| Aminoacidopathy v1.47 | GCDH | Sangavi Sivagnanasundram edited their review of gene: GCDH: Changed rating: GREEN | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Aminoacidopathy v1.47 | GCH1 |
Sangavi Sivagnanasundram gene: GCH1 was added gene: GCH1 was added to Aminoacidopathy. Sources: ClinGen Mode of inheritance for gene: GCH1 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Publications for gene: GCH1 were set to 20301681, 9749603, 10582612, 11026444, 15303002 Phenotypes for gene: GCH1 were set to GTP cyclohydrolase I deficiency MONDO:0100184 Review for gene: GCH1 was set to GREEN Added comment: Classified Definitive by ClinGen Aminoacidopathy GCEP on 11/12/2020 - https://search.clinicalgenome.org/CCID:004935 AD individuals have less than 50% GTPCH activity suggesting a dominant negative mechanism of disease. AR individuals are shown to have severe deficiency of GTPCH activity resulting in hhyperphenylalaninemia due to secondary PAH deficiency which can be detected on NBS. Sources: ClinGen |
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| Aminoacidopathy v1.47 | GCDH |
Sangavi Sivagnanasundram gene: GCDH was added gene: GCDH was added to Aminoacidopathy. Sources: ClinGen Mode of inheritance for gene: GCDH was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: GCDH were set to 31536184, 7795610, 27476540, 31062211 Phenotypes for gene: GCDH were set to glutaryl-CoA dehydrogenase deficiency MONDO:0009281 Added comment: Classified Definitive by ClinGen Aminoacidopathy GCEP on 08/11/2019 - https://search.clinicalgenome.org/CCID:004934 Well established gene-disease association. Affected individuals present with abnormal glutaric acid, 3-hydroxy-glutaric acid, glutaconic acid and glutarylcarnitine. c.91+5G>T has been reported to segregate closely within closely related Native American kindreds. Sources: ClinGen |
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| Aminoacidopathy v1.47 | GAD1 | Zornitza Stark Phenotypes for gene: GAD1 were changed from obsolete early infantile epileptic encephalopathy MONDO:0016021 to Developmental and epileptic encephalopathy 89, MIM# 619124 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Aminoacidopathy v1.38 | CTH | Zornitza Stark Marked gene: CTH as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Aminoacidopathy v1.38 | CTH | Zornitza Stark Gene: cth has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Aminoacidopathy v1.38 | CTH | Zornitza Stark Classified gene: CTH as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Aminoacidopathy v1.38 | CTH | Zornitza Stark Gene: cth has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Aminoacidopathy v1.18 | GATM |
Sangavi Sivagnanasundram gene: GATM was added gene: GATM was added to Aminoacidopathy. Sources: ClinGen Mode of inheritance for gene: GATM was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: GATM were set to 26490222; 23770102; 12468279; 27233232 Phenotypes for gene: GATM were set to AGAT deficiency MONDO:0012996 Review for gene: GATM was set to GREEN Added comment: Classified Definitive by ClinGen Aminoacidopathy GCEP on 08/03/2019 - https://search.clinicalgenome.org/CCID:004930 AGAT deficiency is an inborn error of creatine metabolism. Well established gene-disease association with evidence of segregation between affected individuals. LoF is the mechanism of disease Sources: ClinGen |
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| Aminoacidopathy v1.18 | GAMT |
Sangavi Sivagnanasundram gene: GAMT was added gene: GAMT was added to Aminoacidopathy. Sources: ClinGen Mode of inheritance for gene: GAMT was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: GAMT were set to 20301745; 17466557; 16293431; 12701824; 2441567 Phenotypes for gene: GAMT were set to guanidinoacetate methyltransferase deficiency MONDO:0012999 Review for gene: GAMT was set to GREEN Added comment: Classified Definitive by ClinGen Aminoacidopathy GCEP on 25/01/2019 - https://search.clinicalgenome.org/CCID:004917 Well established gene-disease association. Reported as an inborn error of creatine metabolism. The two most commonly reported variants are p.Trp20Ser (c.59G>C) and c.327G>A (p.Lys109=). Both variants are pathogenic on ClinVar (>2 stars) and is classified pathogenic by the ClinGen Cerebral Creatine Deficiency Syndromes Variant Curation Expert Panel (FDA recognised database). Sources: ClinGen |
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| Aminoacidopathy v1.18 | GAD1 |
Sangavi Sivagnanasundram changed review comment from: Classified Definitive by ClinGen Aminoacidopathy GCEP on 13/05/2021 - https://search.clinicalgenome.org/CCID:004907 Established gene-disease association with multiple reported individuals having a metabolic abnormality. Mouse models were performed that recaptulated the human phenotype. Sources: ClinGen; to: Classified Definitive by ClinGen Aminoacidopathy GCEP on 13/05/2021 - https://search.clinicalgenome.org/CCID:004907 Established gene-disease association with multiple reported individuals having a metabolic abnormality. Mouse models were performed that recapitulated the human phenotype. Sources: ClinGen |
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| Aminoacidopathy v1.18 | GAD1 |
Sangavi Sivagnanasundram gene: GAD1 was added gene: GAD1 was added to Aminoacidopathy. Sources: ClinGen Mode of inheritance for gene: GAD1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: GAD1 were set to 28454995; 31144778; 32282878; 15571623; 32705143; 9177246; 9326630; 20333300 Phenotypes for gene: GAD1 were set to obsolete early infantile epileptic encephalopathy MONDO:0016021 Review for gene: GAD1 was set to GREEN Added comment: Classified Definitive by ClinGen Aminoacidopathy GCEP on 13/05/2021 - https://search.clinicalgenome.org/CCID:004907 Established gene-disease association with multiple reported individuals having a metabolic abnormality. Mouse models were performed that recaptulated the human phenotype. Sources: ClinGen |
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| Aminoacidopathy v1.18 | FMO3 |
Sangavi Sivagnanasundram gene: FMO3 was added gene: FMO3 was added to Aminoacidopathy. Sources: ClinGen Mode of inheritance for gene: FMO3 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: FMO3 were set to 31317802; 28649550 Phenotypes for gene: FMO3 were set to trimethylaminuria MONDO:0011182 Review for gene: FMO3 was set to GREEN Added comment: Classified Definitive by ClinGen Aminoacidopathy GCEP on 14/08/2020 - https://search.clinicalgenome.org/CCID:004868 Well established gene-disease assocation. Multiple reported individuals with an abnormality in trimethylamine metabolism. Sources: ClinGen |
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| Aminoacidopathy v1.18 | FAH |
Sangavi Sivagnanasundram gene: FAH was added gene: FAH was added to Aminoacidopathy. Sources: ClinGen Mode of inheritance for gene: FAH was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: FAH were set to 20301688; 8318997; 7550234; 7942842; 2378356; 9095403; 26829318 Phenotypes for gene: FAH were set to tyrosinemia type I MONDO:0010161 Review for gene: FAH was set to GREEN Added comment: Classified Definitive by ClinGen Aminoacidopathy GCEP on 29/06/2020 - https://search.clinicalgenome.org/CCID:004804 Typically present in young infants with abnormal liver function as FAH is mainly expressed in the liver. Well established gene-disease association with multiple reported individuals having abnormal biochemical function of FAH. LoF is the mechanism of disease. Gene Reviews reports many founder variants in different population. Sources: ClinGen |
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| Aminoacidopathy v1.18 | DNAJC12 |
Sangavi Sivagnanasundram gene: DNAJC12 was added gene: DNAJC12 was added to Aminoacidopathy. Sources: ClinGen Mode of inheritance for gene: DNAJC12 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: DNAJC12 were set to 28132689, 30179615, 28892570, 28794131, 30139987 Phenotypes for gene: DNAJC12 were set to hyperphenylalaninemia due to DNAJC12 deficiency MONDO:0044304 Review for gene: DNAJC12 was set to GREEN Added comment: Classified Definitive by ClinGen Aminoacidopathy GCEP on 11/01/2021 - https://search.clinicalgenome.org/CCID:004679 Biochemical abnormalities have been reported in at least 7 probands. Sources: ClinGen |
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| Aminoacidopathy v1.18 | DMGDH |
Sangavi Sivagnanasundram gene: DMGDH was added gene: DMGDH was added to Aminoacidopathy. Sources: ClinGen Mode of inheritance for gene: DMGDH was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: DMGDH were set to 11231903 Phenotypes for gene: DMGDH were set to dimethylglycine dehydrogenase deficiency MONDO:0011610 Review for gene: DMGDH was set to RED Added comment: Classified Limited by ClinGen Aminoacidopathy GCEP on 12/12/2022 - https://search.clinicalgenome.org/CCID:004660 Reported in one individual with abnormal choline metabolism. Sources: ClinGen |
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| Aminoacidopathy v1.18 | DHTKD1 |
Sangavi Sivagnanasundram gene: DHTKD1 was added gene: DHTKD1 was added to Aminoacidopathy. Sources: ClinGen Mode of inheritance for gene: DHTKD1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: DHTKD1 were set to 26141459, 25860818, 23141293 Phenotypes for gene: DHTKD1 were set to 2-aminoadipic 2-oxoadipic aciduria MONDO:0008774 Review for gene: DHTKD1 was set to GREEN Added comment: Classified Definitive by ClinGen Aminoacidopathy GCEP on 03/11/2020 - https://search.clinicalgenome.org/CCID:004644 Reported in >10 probands with biochemical abnormalities. Mouse models and functional assays have been conducted that confirm LoF mechanism of disease. Sources: ClinGen |
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| Aminoacidopathy v1.18 | CTH |
Sangavi Sivagnanasundram gene: CTH was added gene: CTH was added to Aminoacidopathy. Sources: ClinGen Mode of inheritance for gene: CTH was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: CTH were set to 20584029; 19428278; 12574942 Phenotypes for gene: CTH were set to cystathioninuria MONDO:0009058 Review for gene: CTH was set to GREEN Added comment: Classified Definitive by ClinGen Aminoacidopathy GCEP on 14/06/2019 - https://search.clinicalgenome.org/CCID:004594 Inborn error of cystathionine gamma-lyase metabolism and has been reported in >5 affected individuals. Sources: ClinGen |
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| Aminoacidopathy v1.18 | CPS1 |
Sangavi Sivagnanasundram gene: CPS1 was added gene: CPS1 was added to Aminoacidopathy. Sources: ClinGen Mode of inheritance for gene: CPS1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: CPS1 were set to 9862865; 29801986; 27834067; 27150549; 22173106 Phenotypes for gene: CPS1 were set to carbamoyl phosphate synthetase I deficiency disease MONDO:0009376 Review for gene: CPS1 was set to GREEN Added comment: Classified Definitive by ClinGen Aminoacidopathy GCEP on 12/10/2018 - https://search.clinicalgenome.org/CCID:004568 Well established gene-disease association. Reported individuals are deficient in CPS which affects their urea cycle. Classified as an inborn error of metabolism of the urea cycle. Sources: ClinGen |
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| Aminoacidopathy v1.18 | CBS |
Sangavi Sivagnanasundram gene: CBS was added gene: CBS was added to Aminoacidopathy. Sources: ClinGen Mode of inheritance for gene: CBS was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: CBS were set to 20301697; 18987302; 29398487 Phenotypes for gene: CBS were set to classic homocystinuria MONDO:0009352 Review for gene: CBS was set to GREEN Added comment: Classified Definitive by ClinGen Aminoacidopathy GCEP on 12/04/2019 - https://search.clinicalgenome.org/CCID:004360 Well established gene-disease association. Multiple reported individuals and mouse models recapitulating the clinical phenotype. Classic homocystinuria is an inborn error of amino acid metabolism. Sources: ClinGen |
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| Aminoacidopathy v1.18 | CA5A | Sangavi Sivagnanasundram edited their review of gene: CA5A: Changed publications: 24530203, 26913920, 23589845, 25834911 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Aminoacidopathy v1.18 | CA5A |
Sangavi Sivagnanasundram gene: CA5A was added gene: CA5A was added to Aminoacidopathy. Sources: ClinGen Mode of inheritance for gene: CA5A was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: CA5A were set to 24530203, 26913920, 23589845 Phenotypes for gene: CA5A were set to hyperammonemic encephalopathy due to carbonic anhydrase VA deficiency MONDO:0014332 Review for gene: CA5A was set to GREEN Added comment: Classified Definitive by ClinGen Aminoacidopathy GCEP on 10/09/2018 - https://search.clinicalgenome.org/CCID:004309 Reported in >10 probands with biochemical abnormalities (inborn error of metabolism) Sources: ClinGen |
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| Aminoacidopathy v1.18 | ASS1 |
Sangavi Sivagnanasundram gene: ASS1 was added gene: ASS1 was added to Aminoacidopathy. Sources: ClinGen Mode of inheritance for gene: ASS1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: ASS1 were set to 19006241 Phenotypes for gene: ASS1 were set to citrullinemia type I MONDO:0008988 Review for gene: ASS1 was set to GREEN Added comment: Classified Definitive by ClinGen Aminoacidopathy GCEP on 27/12/2018 - https://search.clinicalgenome.org/CCID:004190 Well-established gene-disease association. Reported individuals present with inborn error of argininosuccinate synthetase metabolism. Sources: ClinGen |
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| Aminoacidopathy v1.10 | AGA | Zornitza Stark reviewed gene: AGA: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Canavan disease MONDO:0010079; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Aminoacidopathy v1.9 | AGA |
Sangavi Sivagnanasundram gene: AGA was added gene: AGA was added to Aminoacidopathy. Sources: ClinGen Mode of inheritance for gene: AGA was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: AGA were set to 8252036, 20301412 Phenotypes for gene: AGA were set to Canavan disease MONDO:0010079 Added comment: Classified Definitive by ClinGen Aminoacidopathy GCEP on 08/10/2020 - https://search.clinicalgenome.org/CCID:004188 Canavan disease is most prevalent in the AJ population however has been reported in other individuals as well. The most common variants in AJ population are p.Glu285Ala and p.Tyr231Ter (PMID:8252036). The most common variant reported in the non-Jewish population is p.Ala305Glu (PMID:20301412). All variants have been reported as pathogenic on ClinVar with at least 2/4 stars. Variants have been reported in >10 individuals with elevated N-acetylaspartic acid (NAA) levels and LoF is the mechanism of disease. Sources: ClinGen |
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| Aminoacidopathy v1.9 | ASNS |
Sangavi Sivagnanasundram gene: ASNS was added gene: ASNS was added to Aminoacidopathy. Sources: ClinGen Mode of inheritance for gene: ASNS was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: ASNS were set to 29375865, 25663424, 25227173, 29405484, 28776279, 30315573 Phenotypes for gene: ASNS were set to congenital microcephaly - severe encephalopathy - progressive cerebral atrophy syndrome MONDO:0014258 Review for gene: ASNS was set to GREEN Added comment: Classified Definitive by ClinGen Aminoacidopathy GCEP on 29/06/2020 - https://search.clinicalgenome.org/CCID:004187 Well established gene-disease association. Individuals have been reported with an inborn error of asparagine synthetase metabolism. Sources: ClinGen |
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| Aminoacidopathy v1.9 | ASL |
Sangavi Sivagnanasundram gene: ASL was added gene: ASL was added to Aminoacidopathy. Sources: ClinGen Mode of inheritance for gene: ASL was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: ASL were set to 2263616, 17326097, 19703900, 12559843, 22081021 Phenotypes for gene: ASL were set to argininosuccinic aciduria MONDO:0008815 Review for gene: ASL was set to GREEN Added comment: Classified Definitive by ClinGen Aminoacidopathy GCEP on 15/09/2018 - https://search.clinicalgenome.org/CCID:004186 Established gene-disease association with reported individuals having an inborn error of argininosuccinate lyase metabolism. Sources: ClinGen |
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| Aminoacidopathy v1.9 | AMT | Sangavi Sivagnanasundram edited their review of gene: AMT: Changed rating: GREEN | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Aminoacidopathy v1.9 | ARG1 |
Sangavi Sivagnanasundram gene: ARG1 was added gene: ARG1 was added to Aminoacidopathy. Sources: ClinGen Mode of inheritance for gene: ARG1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: ARG1 were set to 16747805, 23859858, 1463019, 1598908, 12052859, 23920045 Phenotypes for gene: ARG1 were set to hyperargininemia MONDO:0008814 Review for gene: ARG1 was set to GREEN Added comment: Classified Definitive by ClinGen Aminoacidopathy GCEP on 29/06/2020 - https://search.clinicalgenome.org/CCID:004163 Reported in >5 unrelated probands with manifestations of hyperammonemia and hyperargininemia. It is an inborn error of L-arginine metabolism. Two knock out mouse models have been conducted attesting to the LoF mechanism of disease. Sources: ClinGen |
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| Aminoacidopathy v1.9 | AMT |
Sangavi Sivagnanasundram gene: AMT was added gene: AMT was added to Aminoacidopathy. Sources: ClinGen Mode of inheritance for gene: AMT was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: AMT were set to 27362913, 8005589, 25231368, 26179960, 26371980, 27164344, 6863283, 18941301 Phenotypes for gene: AMT were set to glycine encephalopathy MONDO:0011612 Added comment: Classified Definitive by ClinGen Aminoacidopathy GCEP on 24/05/2019 - https://search.clinicalgenome.org/CCID:004120 Established gene-disease association with around 15-20% of the reported individuals having glycine encephalopathy (inborn error of glycine metabolism). LoF is the mechanism of disease that has been supported by biochemical functional assays (PMID: 6863283, 18941301) Sources: ClinGen |
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| Aminoacidopathy v1.9 | ALDH7A1 |
Sangavi Sivagnanasundram gene: ALDH7A1 was added gene: ALDH7A1 was added to Aminoacidopathy. Sources: ClinGen Mode of inheritance for gene: ALDH7A1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: ALDH7A1 were set to 19142996, 16491085, 22784480, 29053735 Phenotypes for gene: ALDH7A1 were set to pyridoxine-dependent epilepsy MONDO:0009945 Review for gene: ALDH7A1 was set to GREEN Added comment: Classified Definitive on 26/07/2019 by ClinGen Aminoacidopathy GCEP - https://search.clinicalgenome.org/CCID:004097 Reported in 10 individuals and functional evidence supporting the gene-disease association. Sources: ClinGen |
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| Aminoacidopathy v1.9 | ALDH4A1 |
Sangavi Sivagnanasundram gene: ALDH4A1 was added gene: ALDH4A1 was added to Aminoacidopathy. Sources: ClinGen Mode of inheritance for gene: ALDH4A1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: ALDH4A1 were set to 2624476, 13835167, 4369405, 8621661 Phenotypes for gene: ALDH4A1 were set to hyperprolinemia type 2 MONDO:0009401 Review for gene: ALDH4A1 was set to GREEN Added comment: Classified Definitive on 23/10/2020 by ClinGen Aminoacidopathy GCEP - https://search.clinicalgenome.org/CCID:004094 Well reported gene-disease association in individuals with abnormal biochemistry. Most individuals present with elevated P5C levels Sources: ClinGen |
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| Aminoacidopathy v1.9 | ALDH18A1 | Sangavi Sivagnanasundram edited their review of gene: ALDH18A1: Changed rating: GREEN | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Aminoacidopathy v1.9 | ALDH18A1 |
Sangavi Sivagnanasundram gene: ALDH18A1 was added gene: ALDH18A1 was added to Aminoacidopathy. Sources: ClinGen Mode of inheritance for gene: ALDH18A1 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Publications for gene: ALDH18A1 were set to 32017139, 26026163, 26320891 Phenotypes for gene: ALDH18A1 were set to P5CS deficiency MONDO:0100126 Added comment: Classified Definitive on 18/05/2021 by ClinGen Aminoacidopathy GCEP - https://search.clinicalgenome.org/CCID:004093 P5CS is an important enzyme in several amino acid pathways. >10 Individuals with abnormal biochemistry and function studies have been conducted. Mechanism of disease is variable LOF depending on the mutation present which results in the spectrum of severity in the phenotype. Dominant negative mutations have a less severe phenotype (AD cutis laxa/hsp) to the severely affected proteins having no activity (AR cutis laxa/hsp) (PMID: 32017139). Sources: ClinGen |
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| Aminoacidopathy v1.9 | AHCY |
Sangavi Sivagnanasundram gene: AHCY was added gene: AHCY was added to Aminoacidopathy. Sources: ClinGen Mode of inheritance for gene: AHCY was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: AHCY were set to 13641268, 15024124, 16736098, 20852937, 22959829, 30121674, 26527160, 26095522, 27848944, 31957987, 35463910 Phenotypes for gene: AHCY were set to hypermethioninemia with deficiency of S-adenosylhomocysteine hydrolase MONDO:0013404 Review for gene: AHCY was set to GREEN Added comment: Individuals present with psychomotor delay along with biochemical abnormalities (elevated plasma SAH, SAM, methionione and creatine kinase with decreased SAM/SAH ratio). At least 10 probands (majority having missense variants but nonsense variants have been reported as well) have been reported with a biochemical abnormality. LoF is the mechanism of disease. Classified Moderate on 12/12/2022 by ClinGen Aminoacidopathy GCEP - https://search.clinicalgenome.org/CCID:004077 Sources: ClinGen |
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| Aminoacidopathy v1.9 | ADK |
Sangavi Sivagnanasundram changed review comment from: Classified Definitive on 08/04/2021 by ClinGen Aminoacidopathy GCEP - https://search.clinicalgenome.org/CCID:004066 Multiple reported in individuals with ADK deficiency. LoF is the mechanism of disease and functional studies have been conducted to confirm loss ADK activity. Sources: ClinGen; to: Classified Definitive on 08/04/2021 by ClinGen Aminoacidopathy GCEP - https://search.clinicalgenome.org/CCID:004066 ADK is a multisystem disorder. individuals can present with other phenotypes (such as DD, seizures, hypotonia) in the neonatal period. Multiple reported in individuals with ADK deficiency. LoF is the mechanism of disease and functional studies have been conducted to confirm loss ADK activity. Sources: ClinGen |
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| Aminoacidopathy v1.9 | ADK | Sangavi Sivagnanasundram edited their review of gene: ADK: Changed phenotypes: adenosine kinase deficiency MONDO:0100255 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Aminoacidopathy v1.9 | ADK |
Sangavi Sivagnanasundram changed review comment from: Classified Definitive on 08/04/2021 by ClinGen Aminoacidopathy GCEP - https://search.clinicalgenome.org/CCID:004066 ADK is a multisystem disorder. individuals can present with other phenotypes (such as DD, seizures, hypotonia) in the neonatal period. Multiple reported in individuals with ADK deficiency. LoF is the mechanism of disease and functional studies have been conducted to confirm loss ADK activity. Sources: ClinGen; to: Classified Definitive on 08/04/2021 by ClinGen Aminoacidopathy GCEP - https://search.clinicalgenome.org/CCID:004066 Multiple reported in individuals with ADK deficiency. LoF is the mechanism of disease and functional studies have been conducted to confirm loss ADK activity. Sources: ClinGen |
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| Aminoacidopathy v1.9 | ADK | Sangavi Sivagnanasundram edited their review of gene: ADK: Changed phenotypes: hypermethioninemia with deficiency of S-adenosylhomocysteine hydrolase MONDO:0013404 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Aminoacidopathy v1.9 | ADK |
Sangavi Sivagnanasundram gene: ADK was added gene: ADK was added to Aminoacidopathy. Sources: ClinGen Mode of inheritance for gene: ADK was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: ADK were set to 21963049, 26642971, 33309011, 27671891 Phenotypes for gene: ADK were set to adenosine kinase deficiency MONDO:0100255 Review for gene: ADK was set to GREEN Added comment: Classified Definitive on 08/04/2021 by ClinGen Aminoacidopathy GCEP - https://search.clinicalgenome.org/CCID:004066 ADK is a multisystem disorder. individuals can present with other phenotypes (such as DD, seizures, hypotonia) in the neonatal period. Multiple reported in individuals with ADK deficiency. LoF is the mechanism of disease and functional studies have been conducted to confirm loss ADK activity. Sources: ClinGen |
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| Aminoacidopathy v1.9 | ACY1 |
Sangavi Sivagnanasundram gene: ACY1 was added gene: ACY1 was added to Aminoacidopathy. Sources: ClinGen Mode of inheritance for gene: ACY1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: ACY1 were set to 4997716, 24117009, 16465618, 17562838, 21414403, 16274666, 20480396 Phenotypes for gene: ACY1 were set to aminoacylase 1 deficiency MONDO:0012368 Review for gene: ACY1 was set to GREEN Added comment: Classified Definitive on 25/09/2020 by ClinGen Aminoacidopathy GCEP - https://search.clinicalgenome.org/CCID:004051 Reported in >5 unrelated individuals with biochemically abnormal organic aciduria. LoF appears to be the mechanism of disease but no functional studies conducted at this stage. Sources: ClinGen |
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| Aminoacidopathy v1.6 | ACSF3 |
Sangavi Sivagnanasundram gene: ACSF3 was added gene: ACSF3 was added to Aminoacidopathy. Sources: ClinGen Mode of inheritance for gene: ACSF3 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: ACSF3 were set to 21785126, 26915364, 30740739, 26827111, 27604308, 21841779 Phenotypes for gene: ACSF3 were set to combined malonic and methylmalonic acidemia MONDO:0013661 Review for gene: ACSF3 was set to GREEN Added comment: Established gene disease association with reported individuals showing evidence of biochemical abnormalities however some individuals do not show any other phenotypic abnormalities. LoF is the mechanism of disease. Definitive classification by ClinGen Aminoacidopathy GCEP on 09/10/2020 - https://search.clinicalgenome.org/CCID:004033 Sources: ClinGen |
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| Aminoacidopathy v1.6 | AASS |
Sangavi Sivagnanasundram gene: AASS was added gene: AASS was added to Aminoacidopathy. Sources: ClinGen Mode of inheritance for gene: AASS was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: AASS were set to 23890588, 10775527, 27604308, 23570448; 35135854 Phenotypes for gene: AASS were set to hyperlysinemia MONDO:0009388 Review for gene: AASS was set to GREEN Added comment: Reported in individuals with affected biochemical function. Knock-in mouse model was also conducted to recapitulate the human phenotype (PMID: 35135854). Definitive classification by ClinGen Aminoacidopathy GCEP on 14/10/2022 - https://search.clinicalgenome.org/CCID:004004 Sources: ClinGen |
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| Aminoacidopathy v1.6 | Bryony Thompson Panel name changed from Disorders of branched chain amino acid metabolism to Aminoacidopathy | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Aminoacidopathy v1.4 | MCCC1 | Bryony Thompson reviewed gene: MCCC1: Rating: GREEN; Mode of pathogenicity: None; Publications: 36822454, 31730530; Phenotypes: 3-Methylcrotonyl-CoA carboxylase 1 deficiency MIM#210200, Organic acidurias; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Aminoacidopathy v1.4 | MCCC1 | Bryony Thompson Deleted their review | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Aminoacidopathy v1.1 | PPM1K | Suliman Khan reviewed gene: PPM1K: Rating: AMBER; Mode of pathogenicity: None; Publications: PMID: 36706222; Phenotypes: Maple syrup urine disease (MSUD); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Aminoacidopathy v0.22 | CLPB | Bryony Thompson Phenotypes for gene: CLPB were changed from 3-methylglutaconic aciduria with cataracts, neurologic involvement and neutropenia MONDO:0014561 to 3-methylglutaconic aciduria with cataracts, neurologic involvement and neutropenia MONDO:0014561; 3-methylglutaconic aciduria, type VIIA, autosomal dominant, MIM# 619835 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Aminoacidopathy v0.20 | CLPB | Bryony Thompson Mode of inheritance for gene: CLPB was changed from BIALLELIC, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Aminoacidopathy v0.0 | MMADHC |
Bryony Thompson gene: MMADHC was added gene: MMADHC was added to Disorders of branched chain amino acid metabolism. Sources: Literature Mode of inheritance for gene: MMADHC was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: MMADHC were set to 29152456 Phenotypes for gene: MMADHC were set to methylmalonic aciduria and homocystinuria type cblD MONDO:0010185 |
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| Aminoacidopathy v0.0 | MMAB |
Bryony Thompson gene: MMAB was added gene: MMAB was added to Disorders of branched chain amino acid metabolism. Sources: Literature Mode of inheritance for gene: MMAB was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: MMAB were set to 29152456 Phenotypes for gene: MMAB were set to methylmalonic aciduria, cblB type MONDO:0009614 |
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| Aminoacidopathy v0.0 | MMAA |
Bryony Thompson gene: MMAA was added gene: MMAA was added to Disorders of branched chain amino acid metabolism. Sources: Literature Mode of inheritance for gene: MMAA was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: MMAA were set to 29152456 Phenotypes for gene: MMAA were set to methylmalonic aciduria, cblA type MONDO:0009613 |
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| Aminoacidopathy v0.0 | MUT |
Bryony Thompson gene: MUT was added gene: MUT was added to Disorders of branched chain amino acid metabolism. Sources: Literature Mode of inheritance for gene: MUT was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: MUT were set to 29152456 Phenotypes for gene: MUT were set to methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency MONDO:0009612 |
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| Aminoacidopathy v0.0 | ALDH6A1 |
Bryony Thompson gene: ALDH6A1 was added gene: ALDH6A1 was added to Disorders of branched chain amino acid metabolism. Sources: Literature Mode of inheritance for gene: ALDH6A1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: ALDH6A1 were set to 29152456 Phenotypes for gene: ALDH6A1 were set to methylmalonate semialdehyde dehydrogenase deficiency MONDO:0013579 |
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| Aminoacidopathy v0.0 | ACAT1 |
Bryony Thompson gene: ACAT1 was added gene: ACAT1 was added to Disorders of branched chain amino acid metabolism. Sources: Literature Mode of inheritance for gene: ACAT1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: ACAT1 were set to 29152456 Phenotypes for gene: ACAT1 were set to beta-ketothiolase deficiency MONDO:0008760 |
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| Aminoacidopathy v0.0 | ACADSB |
Bryony Thompson gene: ACADSB was added gene: ACADSB was added to Disorders of branched chain amino acid metabolism. Sources: Literature Mode of inheritance for gene: ACADSB was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: ACADSB were set to 29152456 Phenotypes for gene: ACADSB were set to 2-methylbutyryl-CoA dehydrogenase deficiency MONDO:0012392 |
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| Aminoacidopathy v0.0 | HMGCL |
Bryony Thompson gene: HMGCL was added gene: HMGCL was added to Disorders of branched chain amino acid metabolism. Sources: Literature Mode of inheritance for gene: HMGCL was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: HMGCL were set to 29152456 Phenotypes for gene: HMGCL were set to 3-hydroxy-3-methylglutaric aciduria MONDO:0009520 |
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| Aminoacidopathy v0.0 | CLPB |
Bryony Thompson gene: CLPB was added gene: CLPB was added to Disorders of branched chain amino acid metabolism. Sources: Literature Mode of inheritance for gene: CLPB was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: CLPB were set to 29152456 Phenotypes for gene: CLPB were set to 3-methylglutaconic aciduria with cataracts, neurologic involvement and neutropenia MONDO:0014561 |
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| Aminoacidopathy v0.0 | SERAC1 |
Bryony Thompson gene: SERAC1 was added gene: SERAC1 was added to Disorders of branched chain amino acid metabolism. Sources: Literature Mode of inheritance for gene: SERAC1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: SERAC1 were set to 29152456 Phenotypes for gene: SERAC1 were set to 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome MONDO:0013875 |
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| Aminoacidopathy v0.0 | DNAJC19 |
Bryony Thompson gene: DNAJC19 was added gene: DNAJC19 was added to Disorders of branched chain amino acid metabolism. Sources: Literature Mode of inheritance for gene: DNAJC19 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: DNAJC19 were set to 29152456 Phenotypes for gene: DNAJC19 were set to 3-methylglutaconic aciduria type 5 MONDO:0012435 |
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| Aminoacidopathy v0.0 | OPA3 |
Bryony Thompson gene: OPA3 was added gene: OPA3 was added to Disorders of branched chain amino acid metabolism. Sources: Literature Mode of inheritance for gene: OPA3 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: OPA3 were set to 29152456 Phenotypes for gene: OPA3 were set to 3-methylglutaconic aciduria type 3 MONDO:0009787 |
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| Aminoacidopathy v0.0 | TAZ |
Bryony Thompson gene: TAZ was added gene: TAZ was added to Disorders of branched chain amino acid metabolism. Sources: Literature Mode of inheritance for gene: TAZ was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Publications for gene: TAZ were set to 29152456 Phenotypes for gene: TAZ were set to 3-methylglutaconic aciduria MONDO:0017359 |
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| Aminoacidopathy v0.0 | AUH |
Bryony Thompson gene: AUH was added gene: AUH was added to Disorders of branched chain amino acid metabolism. Sources: Literature Mode of inheritance for gene: AUH was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: AUH were set to 29152456 Phenotypes for gene: AUH were set to 3-methylglutaconic aciduria type 1 MONDO:0009610 |
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| Aminoacidopathy v0.0 | MCCC2 |
Bryony Thompson gene: MCCC2 was added gene: MCCC2 was added to Disorders of branched chain amino acid metabolism. Sources: Literature Mode of inheritance for gene: MCCC2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: MCCC2 were set to 29152456 Phenotypes for gene: MCCC2 were set to 3-methylcrotonyl-CoA carboxylase deficiency MONDO:0018950 |
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| Aminoacidopathy v0.0 | MCCC1 |
Bryony Thompson gene: MCCC1 was added gene: MCCC1 was added to Disorders of branched chain amino acid metabolism. Sources: Literature Mode of inheritance for gene: MCCC1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: MCCC1 were set to 29152456 Phenotypes for gene: MCCC1 were set to 3-methylcrotonyl-CoA carboxylase deficiency MONDO:0018950 |
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