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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 v1.132 GLS Zornitza Stark Publications for gene: GLS were set to 29468182; 30575854; 30970188; 16641247; 30239721, 37151363
Aminoacidopathy v1.131 GLS Zornitza Stark Phenotypes for gene: GLS were changed from glutaminase deficiency MONDO:0600001 to Glutaminase deficiency MONDO:0600001; Infantile cataract, skin abnormalities, glutamate excess, and impaired intellectual development MONDO:0032685
Aminoacidopathy v1.130 GLS Zornitza Stark Publications for gene: GLS were set to 29468182, 30575854, 30970188; 16641247
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
Aminoacidopathy v1.128 SLC6A20 Zornitza Stark Marked gene: SLC6A20 as ready
Aminoacidopathy v1.128 SLC6A20 Zornitza Stark Gene: slc6a20 has been classified as Red List (Low Evidence).
Aminoacidopathy v1.128 SLC6A20 Zornitza Stark Classified gene: SLC6A20 as Red List (low evidence)
Aminoacidopathy v1.128 SLC6A20 Zornitza Stark Gene: slc6a20 has been classified as Red List (Low Evidence).
Aminoacidopathy v1.127 SLC25A22 Zornitza Stark Marked gene: SLC25A22 as ready
Aminoacidopathy v1.127 SLC25A22 Zornitza Stark Gene: slc25a22 has been classified as Green List (High Evidence).
Aminoacidopathy v1.127 SLC25A22 Zornitza Stark Classified gene: SLC25A22 as Green List (high evidence)
Aminoacidopathy v1.127 SLC25A22 Zornitza Stark Gene: slc25a22 has been classified as Green List (High Evidence).
Aminoacidopathy v1.126 SLC25A13 Zornitza Stark Marked gene: SLC25A13 as ready
Aminoacidopathy v1.126 SLC25A13 Zornitza Stark Gene: slc25a13 has been classified as Green List (High Evidence).
Aminoacidopathy v1.126 SLC25A13 Zornitza Stark Classified gene: SLC25A13 as Green List (high evidence)
Aminoacidopathy v1.126 SLC25A13 Zornitza Stark Gene: slc25a13 has been classified as Green List (High Evidence).
Aminoacidopathy v1.125 SLC7A5 Zornitza Stark Marked gene: SLC7A5 as ready
Aminoacidopathy v1.125 SLC7A5 Zornitza Stark Gene: slc7a5 has been classified as Red List (Low Evidence).
Aminoacidopathy v1.125 SLC7A5 Zornitza Stark Classified gene: SLC7A5 as Red List (low evidence)
Aminoacidopathy v1.125 SLC7A5 Zornitza Stark Gene: slc7a5 has been classified as Red List (Low Evidence).
Aminoacidopathy v1.124 XPNPEP3 Zornitza Stark Marked gene: XPNPEP3 as ready
Aminoacidopathy v1.124 XPNPEP3 Zornitza Stark Gene: xpnpep3 has been classified as Green List (High Evidence).
Aminoacidopathy v1.124 XPNPEP3 Zornitza Stark Classified gene: XPNPEP3 as Green List (high evidence)
Aminoacidopathy v1.124 XPNPEP3 Zornitza Stark Gene: xpnpep3 has been classified as Green List (High Evidence).
Aminoacidopathy v1.123 SLC1A4 Zornitza Stark Marked gene: SLC1A4 as ready
Aminoacidopathy v1.123 SLC1A4 Zornitza Stark Gene: slc1a4 has been classified as Green List (High Evidence).
Aminoacidopathy v1.123 SLC1A4 Zornitza Stark Classified gene: SLC1A4 as Green List (high evidence)
Aminoacidopathy v1.123 SLC1A4 Zornitza Stark Gene: slc1a4 has been classified as Green List (High Evidence).
Aminoacidopathy v1.122 PYCR2 Zornitza Stark Marked gene: PYCR2 as ready
Aminoacidopathy v1.122 PYCR2 Zornitza Stark Gene: pycr2 has been classified as Green List (High Evidence).
Aminoacidopathy v1.122 PYCR2 Zornitza Stark Classified gene: PYCR2 as Green List (high evidence)
Aminoacidopathy v1.122 PYCR2 Zornitza Stark Gene: pycr2 has been classified as Green List (High Evidence).
Aminoacidopathy v1.121 PEPD Zornitza Stark Marked gene: PEPD as ready
Aminoacidopathy v1.121 PEPD Zornitza Stark Gene: pepd has been classified as Green List (High Evidence).
Aminoacidopathy v1.121 PEPD Zornitza Stark Classified gene: PEPD as Green List (high evidence)
Aminoacidopathy v1.121 PEPD Zornitza Stark Gene: pepd has been classified as Green List (High Evidence).
Aminoacidopathy v1.120 OPLAH Zornitza Stark Marked gene: OPLAH as ready
Aminoacidopathy v1.120 OPLAH Zornitza Stark Gene: oplah has been classified as Red List (Low Evidence).
Aminoacidopathy v1.120 OPLAH Zornitza Stark Classified gene: OPLAH as Red List (low evidence)
Aminoacidopathy v1.120 OPLAH Zornitza Stark Gene: oplah has been classified as Red List (Low Evidence).
Aminoacidopathy v1.119 NFE2L2 Zornitza Stark Marked gene: NFE2L2 as ready
Aminoacidopathy v1.119 NFE2L2 Zornitza Stark Gene: nfe2l2 has been classified as Green List (High Evidence).
Aminoacidopathy v1.119 NFE2L2 Zornitza Stark Classified gene: NFE2L2 as Green List (high evidence)
Aminoacidopathy v1.119 NFE2L2 Zornitza Stark Gene: nfe2l2 has been classified as Green List (High Evidence).
Aminoacidopathy v1.118 GSR Zornitza Stark Marked gene: GSR as ready
Aminoacidopathy v1.118 GSR Zornitza Stark Gene: gsr has been classified as Amber List (Moderate Evidence).
Aminoacidopathy v1.118 GSR Zornitza Stark Classified gene: GSR as Amber List (moderate evidence)
Aminoacidopathy v1.118 GSR Zornitza Stark Gene: gsr has been classified as Amber List (Moderate Evidence).
Aminoacidopathy v1.117 GRHPR Zornitza Stark Marked gene: GRHPR as ready
Aminoacidopathy v1.117 GRHPR Zornitza Stark Gene: grhpr has been classified as Green List (High Evidence).
Aminoacidopathy v1.117 GRHPR Zornitza Stark Classified gene: GRHPR as Green List (high evidence)
Aminoacidopathy v1.117 GRHPR Zornitza Stark Gene: grhpr has been classified as Green List (High Evidence).
Aminoacidopathy v1.116 GPX4 Zornitza Stark Marked gene: GPX4 as ready
Aminoacidopathy v1.116 GPX4 Zornitza Stark Gene: gpx4 has been classified as Green List (High Evidence).
Aminoacidopathy v1.116 GPX4 Zornitza Stark Classified gene: GPX4 as Green List (high evidence)
Aminoacidopathy v1.116 GPX4 Zornitza Stark Gene: gpx4 has been classified as Green List (High Evidence).
Aminoacidopathy v1.115 GCLC Zornitza Stark Marked gene: GCLC as ready
Aminoacidopathy v1.115 GCLC Zornitza Stark Gene: gclc has been classified as Green List (High Evidence).
Aminoacidopathy v1.115 GCLC Zornitza Stark Classified gene: GCLC as Green List (high evidence)
Aminoacidopathy v1.115 GCLC Zornitza Stark Gene: gclc has been classified as Green List (High Evidence).
Aminoacidopathy v1.114 GRM6 Zornitza Stark Marked gene: GRM6 as ready
Aminoacidopathy v1.114 GRM6 Zornitza Stark Gene: grm6 has been classified as Green List (High Evidence).
Aminoacidopathy v1.114 GRM6 Zornitza Stark Classified gene: GRM6 as Green List (high evidence)
Aminoacidopathy v1.114 GRM6 Zornitza Stark Gene: grm6 has been classified as Green List (High Evidence).
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
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
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
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
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
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
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
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
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
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
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
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
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
Aminoacidopathy v1.113 SLC25A15 Zornitza Stark Marked gene: SLC25A15 as ready
Aminoacidopathy v1.113 SLC25A15 Zornitza Stark Gene: slc25a15 has been classified as Green List (High Evidence).
Aminoacidopathy v1.113 SLC25A15 Zornitza Stark Classified gene: SLC25A15 as Green List (high evidence)
Aminoacidopathy v1.113 SLC25A15 Zornitza Stark Gene: slc25a15 has been classified as Green List (High Evidence).
Aminoacidopathy v1.112 SLC36A2 Zornitza Stark Marked gene: SLC36A2 as ready
Aminoacidopathy v1.112 SLC36A2 Zornitza Stark Gene: slc36a2 has been classified as Red List (Low Evidence).
Aminoacidopathy v1.112 SLC36A2 Zornitza Stark Classified gene: SLC36A2 as Red List (low evidence)
Aminoacidopathy v1.112 SLC36A2 Zornitza Stark Gene: slc36a2 has been classified as Red List (Low Evidence).
Aminoacidopathy v1.111 SLC38A8 Zornitza Stark Marked gene: SLC38A8 as ready
Aminoacidopathy v1.111 SLC38A8 Zornitza Stark Gene: slc38a8 has been classified as Green List (High Evidence).
Aminoacidopathy v1.111 SLC38A8 Zornitza Stark Classified gene: SLC38A8 as Green List (high evidence)
Aminoacidopathy v1.111 SLC38A8 Zornitza Stark Gene: slc38a8 has been classified as Green List (High Evidence).
Aminoacidopathy v1.110 SLC3A1 Zornitza Stark Marked gene: SLC3A1 as ready
Aminoacidopathy v1.110 SLC3A1 Zornitza Stark Gene: slc3a1 has been classified as Green List (High Evidence).
Aminoacidopathy v1.110 SLC3A1 Zornitza Stark Classified gene: SLC3A1 as Green List (high evidence)
Aminoacidopathy v1.110 SLC3A1 Zornitza Stark Gene: slc3a1 has been classified as Green List (High Evidence).
Aminoacidopathy v1.109 SLC6A19 Zornitza Stark Marked gene: SLC6A19 as ready
Aminoacidopathy v1.109 SLC6A19 Zornitza Stark Gene: slc6a19 has been classified as Green List (High Evidence).
Aminoacidopathy v1.109 SLC6A19 Zornitza Stark Classified gene: SLC6A19 as Green List (high evidence)
Aminoacidopathy v1.109 SLC6A19 Zornitza Stark Gene: slc6a19 has been classified as Green List (High Evidence).
Aminoacidopathy v1.108 SLC6A6 Zornitza Stark Marked gene: SLC6A6 as ready
Aminoacidopathy v1.108 SLC6A6 Zornitza Stark Gene: slc6a6 has been classified as Amber List (Moderate Evidence).
Aminoacidopathy v1.108 SLC6A6 Zornitza Stark Classified gene: SLC6A6 as Amber List (moderate evidence)
Aminoacidopathy v1.108 SLC6A6 Zornitza Stark Gene: slc6a6 has been classified as Amber List (Moderate Evidence).
Aminoacidopathy v1.107 SLC6A8 Zornitza Stark Marked gene: SLC6A8 as ready
Aminoacidopathy v1.107 SLC6A8 Zornitza Stark Gene: slc6a8 has been classified as Green List (High Evidence).
Aminoacidopathy v1.107 SLC6A8 Zornitza Stark Classified gene: SLC6A8 as Green List (high evidence)
Aminoacidopathy v1.107 SLC6A8 Zornitza Stark Gene: slc6a8 has been classified as Green List (High Evidence).
Aminoacidopathy v1.106 SLC7A7 Zornitza Stark Marked gene: SLC7A7 as ready
Aminoacidopathy v1.106 SLC7A7 Zornitza Stark Gene: slc7a7 has been classified as Green List (High Evidence).
Aminoacidopathy v1.106 SLC7A7 Zornitza Stark Classified gene: SLC7A7 as Green List (high evidence)
Aminoacidopathy v1.106 SLC7A7 Zornitza Stark Gene: slc7a7 has been classified as Green List (High Evidence).
Aminoacidopathy v1.105 SLC7A9 Zornitza Stark Marked gene: SLC7A9 as ready
Aminoacidopathy v1.105 SLC7A9 Zornitza Stark Gene: slc7a9 has been classified as Green List (High Evidence).
Aminoacidopathy v1.105 SLC7A9 Zornitza Stark Classified gene: SLC7A9 as Green List (high evidence)
Aminoacidopathy v1.105 SLC7A9 Zornitza Stark Gene: slc7a9 has been classified as Green List (High Evidence).
Aminoacidopathy v1.104 SPR Zornitza Stark Marked gene: SPR as ready
Aminoacidopathy v1.104 SPR Zornitza Stark Gene: spr has been classified as Green List (High Evidence).
Aminoacidopathy v1.104 SPR Zornitza Stark Classified gene: SPR as Green List (high evidence)
Aminoacidopathy v1.104 SPR Zornitza Stark Gene: spr has been classified as Green List (High Evidence).
Aminoacidopathy v1.103 SUGCT Zornitza Stark Marked gene: SUGCT as ready
Aminoacidopathy v1.103 SUGCT Zornitza Stark Gene: sugct has been classified as Amber List (Moderate Evidence).
Aminoacidopathy v1.103 SUGCT Zornitza Stark Classified gene: SUGCT as Amber List (moderate evidence)
Aminoacidopathy v1.103 SUGCT Zornitza Stark Gene: sugct has been classified as Amber List (Moderate Evidence).
Aminoacidopathy v1.102 SUOX Zornitza Stark Marked gene: SUOX as ready
Aminoacidopathy v1.102 SUOX Zornitza Stark Gene: suox has been classified as Green List (High Evidence).
Aminoacidopathy v1.102 SUOX Zornitza Stark Classified gene: SUOX as Green List (high evidence)
Aminoacidopathy v1.102 SUOX Zornitza Stark Gene: suox has been classified as Green List (High Evidence).
Aminoacidopathy v1.101 TAT Zornitza Stark Marked gene: TAT as ready
Aminoacidopathy v1.101 TAT Zornitza Stark Gene: tat has been classified as Green List (High Evidence).
Aminoacidopathy v1.101 TAT Zornitza Stark Classified gene: TAT as Green List (high evidence)
Aminoacidopathy v1.101 TAT Zornitza Stark Gene: tat has been classified as Green List (High Evidence).
Aminoacidopathy v1.100 TDO2 Zornitza Stark Marked gene: TDO2 as ready
Aminoacidopathy v1.100 TDO2 Zornitza Stark Gene: tdo2 has been classified as Red List (Low Evidence).
Aminoacidopathy v1.100 TDO2 Zornitza Stark Classified gene: TDO2 as Red List (low evidence)
Aminoacidopathy v1.100 TDO2 Zornitza Stark Gene: tdo2 has been classified as Red List (Low Evidence).
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 v1.98 TYR Zornitza Stark Marked gene: TYR as ready
Aminoacidopathy v1.98 TYR Zornitza Stark Gene: tyr has been classified as Green List (High Evidence).
Aminoacidopathy v1.98 TYR Zornitza Stark Classified gene: TYR as Green List (high evidence)
Aminoacidopathy v1.98 TYR Zornitza Stark Gene: tyr 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
Aminoacidopathy v1.97 UROC1 Zornitza Stark Marked gene: UROC1 as ready
Aminoacidopathy v1.97 UROC1 Zornitza Stark Gene: uroc1 has been classified as Amber List (Moderate Evidence).
Aminoacidopathy v1.97 UROC1 Zornitza Stark Classified gene: UROC1 as Amber List (moderate evidence)
Aminoacidopathy v1.97 UROC1 Zornitza Stark Gene: uroc1 has been classified as Amber List (Moderate Evidence).
Aminoacidopathy v1.96 HOGA1 Zornitza Stark Marked gene: HOGA1 as ready
Aminoacidopathy v1.96 HOGA1 Zornitza Stark Gene: hoga1 has been classified as Green List (High Evidence).
Aminoacidopathy v1.96 HOGA1 Zornitza Stark Classified gene: HOGA1 as Green List (high evidence)
Aminoacidopathy v1.96 HOGA1 Zornitza Stark Gene: hoga1 has been classified as Green List (High Evidence).
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
Aminoacidopathy v1.94 PCBD1 Zornitza Stark Marked gene: PCBD1 as ready
Aminoacidopathy v1.94 PCBD1 Zornitza Stark Gene: pcbd1 has been classified as Green List (High Evidence).
Aminoacidopathy v1.94 PCBD1 Zornitza Stark Classified gene: PCBD1 as Green List (high evidence)
Aminoacidopathy v1.94 PCBD1 Zornitza Stark Gene: pcbd1 has been classified as Green List (High Evidence).
Aminoacidopathy v1.93 PAH Zornitza Stark Marked gene: PAH as ready
Aminoacidopathy v1.93 PAH Zornitza Stark Gene: pah has been classified as Green List (High Evidence).
Aminoacidopathy v1.93 PAH Zornitza Stark Classified gene: PAH as Green List (high evidence)
Aminoacidopathy v1.93 PAH Zornitza Stark Gene: pah has been classified as Green List (High Evidence).
Aminoacidopathy v1.92 OTC Zornitza Stark Marked gene: OTC as ready
Aminoacidopathy v1.92 OTC Zornitza Stark Gene: otc has been classified as Green List (High Evidence).
Aminoacidopathy v1.92 OTC Zornitza Stark Classified gene: OTC as Green List (high evidence)
Aminoacidopathy v1.92 OTC Zornitza Stark Gene: otc has been classified as Green List (High Evidence).
Aminoacidopathy v1.91 OAT Zornitza Stark Marked gene: OAT as ready
Aminoacidopathy v1.91 OAT Zornitza Stark Gene: oat has been classified as Green List (High Evidence).
Aminoacidopathy v1.91 OAT Zornitza Stark Classified gene: OAT as Green List (high evidence)
Aminoacidopathy v1.91 OAT Zornitza Stark Gene: oat has been classified as Green List (High Evidence).
Aminoacidopathy v1.90 NAT8L Zornitza Stark Marked gene: NAT8L as ready
Aminoacidopathy v1.90 NAT8L Zornitza Stark Gene: nat8l has been classified as Red List (Low Evidence).
Aminoacidopathy v1.90 NAT8L Zornitza Stark Classified gene: NAT8L as Red List (low evidence)
Aminoacidopathy v1.90 NAT8L Zornitza Stark Gene: nat8l has been classified as Red List (Low Evidence).
Aminoacidopathy v1.89 NAGS Zornitza Stark Marked gene: NAGS as ready
Aminoacidopathy v1.89 NAGS Zornitza Stark Gene: nags has been classified as Green List (High Evidence).
Aminoacidopathy v1.89 NAGS Zornitza Stark Classified gene: NAGS as Green List (high evidence)
Aminoacidopathy v1.89 NAGS Zornitza Stark Gene: nags has been classified as Green List (High Evidence).
Aminoacidopathy v1.88 MTRR Zornitza Stark Marked gene: MTRR as ready
Aminoacidopathy v1.88 MTRR Zornitza Stark Gene: mtrr has been classified as Green List (High Evidence).
Aminoacidopathy v1.88 MTRR Zornitza Stark Classified gene: MTRR as Green List (high evidence)
Aminoacidopathy v1.88 MTRR Zornitza Stark Gene: mtrr has been classified as Green List (High Evidence).
Aminoacidopathy v1.87 MTR Zornitza Stark Marked gene: MTR as ready
Aminoacidopathy v1.87 MTR Zornitza Stark Gene: mtr has been classified as Green List (High Evidence).
Aminoacidopathy v1.87 MTR Zornitza Stark Classified gene: MTR as Green List (high evidence)
Aminoacidopathy v1.87 MTR Zornitza Stark Gene: mtr has been classified as Green List (High Evidence).
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 v1.85 MPST Zornitza Stark Marked gene: MPST as ready
Aminoacidopathy v1.85 MPST Zornitza Stark Gene: mpst has been classified as Red List (Low Evidence).
Aminoacidopathy v1.85 MPST Zornitza Stark Classified gene: MPST as Red List (low evidence)
Aminoacidopathy v1.85 MPST Zornitza Stark Gene: mpst has been classified as Red List (Low Evidence).
Aminoacidopathy v1.84 MMACHC Zornitza Stark Marked gene: MMACHC as ready
Aminoacidopathy v1.84 MMACHC Zornitza Stark Gene: mmachc has been classified as Green List (High Evidence).
Aminoacidopathy v1.84 MMACHC Zornitza Stark Classified gene: MMACHC as Green List (high evidence)
Aminoacidopathy v1.84 MMACHC Zornitza Stark Gene: mmachc has been classified as Green List (High Evidence).
Aminoacidopathy v1.83 MCEE Zornitza Stark Marked gene: MCEE as ready
Aminoacidopathy v1.83 MCEE Zornitza Stark Gene: mcee has been classified as Green List (High Evidence).
Aminoacidopathy v1.83 MCEE Zornitza Stark Classified gene: MCEE as Green List (high evidence)
Aminoacidopathy v1.83 MCEE Zornitza Stark Gene: mcee has been classified as Green List (High Evidence).
Aminoacidopathy v1.82 MAT1A Zornitza Stark Marked gene: MAT1A as ready
Aminoacidopathy v1.82 MAT1A Zornitza Stark Gene: mat1a has been classified as Green List (High Evidence).
Aminoacidopathy v1.82 MAT1A Zornitza Stark Classified gene: MAT1A as Green List (high evidence)
Aminoacidopathy v1.82 MAT1A Zornitza Stark Gene: mat1a has been classified as Green List (High Evidence).
Aminoacidopathy v1.81 PHGDH Zornitza Stark Classified gene: PHGDH as Green List (high evidence)
Aminoacidopathy v1.81 PHGDH Zornitza Stark Gene: phgdh has been classified as Green List (High Evidence).
Aminoacidopathy v1.80 PHYKPL Zornitza Stark Marked gene: PHYKPL as ready
Aminoacidopathy v1.80 PHYKPL Zornitza Stark Gene: phykpl has been classified as Red List (Low Evidence).
Aminoacidopathy v1.80 PHYKPL Zornitza Stark Classified gene: PHYKPL as Red List (low evidence)
Aminoacidopathy v1.80 PHYKPL Zornitza Stark Gene: phykpl has been classified as Red List (Low Evidence).
Aminoacidopathy v1.79 PRODH Zornitza Stark Marked gene: PRODH as ready
Aminoacidopathy v1.79 PRODH Zornitza Stark Gene: prodh has been classified as Green List (High Evidence).
Aminoacidopathy v1.79 PRODH Zornitza Stark Classified gene: PRODH as Green List (high evidence)
Aminoacidopathy v1.79 PRODH Zornitza Stark Gene: prodh has been classified as Green List (High Evidence).
Aminoacidopathy v1.78 PRODH2 Zornitza Stark Marked gene: PRODH2 as ready
Aminoacidopathy v1.78 PRODH2 Zornitza Stark Gene: prodh2 has been classified as Red List (Low Evidence).
Aminoacidopathy v1.78 PRODH2 Zornitza Stark Classified gene: PRODH2 as Red List (low evidence)
Aminoacidopathy v1.78 PRODH2 Zornitza Stark Gene: prodh2 has been classified as Red List (Low Evidence).
Aminoacidopathy v1.77 PSAT1 Zornitza Stark Marked gene: PSAT1 as ready
Aminoacidopathy v1.77 PSAT1 Zornitza Stark Gene: psat1 has been classified as Green List (High Evidence).
Aminoacidopathy v1.77 PSAT1 Zornitza Stark Classified gene: PSAT1 as Green List (high evidence)
Aminoacidopathy v1.77 PSAT1 Zornitza Stark Gene: psat1 has been classified as Green List (High Evidence).
Aminoacidopathy v1.76 PSPH Zornitza Stark Marked gene: PSPH as ready
Aminoacidopathy v1.76 PSPH Zornitza Stark Gene: psph has been classified as Green List (High Evidence).
Aminoacidopathy v1.76 PSPH Zornitza Stark Classified gene: PSPH as Green List (high evidence)
Aminoacidopathy v1.76 PSPH Zornitza Stark Gene: psph has been classified as Green List (High Evidence).
Aminoacidopathy v1.75 PTS Zornitza Stark Marked gene: PTS as ready
Aminoacidopathy v1.75 PTS Zornitza Stark Gene: pts has been classified as Green List (High Evidence).
Aminoacidopathy v1.75 PTS Zornitza Stark Classified gene: PTS as Green List (high evidence)
Aminoacidopathy v1.75 PTS Zornitza Stark Gene: pts has been classified as Green List (High Evidence).
Aminoacidopathy v1.74 PYCR1 Zornitza Stark Marked gene: PYCR1 as ready
Aminoacidopathy v1.74 PYCR1 Zornitza Stark Gene: pycr1 has been classified as Green List (High Evidence).
Aminoacidopathy v1.74 PYCR1 Zornitza Stark Classified gene: PYCR1 as Green List (high evidence)
Aminoacidopathy v1.74 PYCR1 Zornitza Stark Gene: pycr1 has been classified as Green List (High Evidence).
Aminoacidopathy v1.73 QDPR Zornitza Stark Marked gene: QDPR as ready
Aminoacidopathy v1.73 QDPR Zornitza Stark Gene: qdpr has been classified as Green List (High Evidence).
Aminoacidopathy v1.73 QDPR Zornitza Stark Classified gene: QDPR as Green List (high evidence)
Aminoacidopathy v1.73 QDPR Zornitza Stark Gene: qdpr has been classified as Green List (High Evidence).
Aminoacidopathy v1.72 SARDH Zornitza Stark Marked gene: SARDH as ready
Aminoacidopathy v1.72 SARDH Zornitza Stark Gene: sardh has been classified as Red List (Low Evidence).
Aminoacidopathy v1.72 SARDH Zornitza Stark Classified gene: SARDH as Red List (low evidence)
Aminoacidopathy v1.72 SARDH Zornitza Stark Gene: sardh has been classified as Red List (Low Evidence).
Aminoacidopathy v1.71 SELENBP1 Zornitza Stark Marked gene: SELENBP1 as ready
Aminoacidopathy v1.71 SELENBP1 Zornitza Stark Gene: selenbp1 has been classified as Green List (High Evidence).
Aminoacidopathy v1.71 SELENBP1 Zornitza Stark Classified gene: SELENBP1 as Green List (high evidence)
Aminoacidopathy v1.71 SELENBP1 Zornitza Stark Gene: selenbp1 has been classified as Green List (High Evidence).
Aminoacidopathy v1.70 SHMT2 Zornitza Stark Marked gene: SHMT2 as ready
Aminoacidopathy v1.70 SHMT2 Zornitza Stark Gene: shmt2 has been classified as Green List (High Evidence).
Aminoacidopathy v1.70 SHMT2 Zornitza Stark Classified gene: SHMT2 as Green List (high evidence)
Aminoacidopathy v1.70 SHMT2 Zornitza Stark Gene: shmt2 has been classified as Green List (High Evidence).
Aminoacidopathy v1.69 SLC1A1 Zornitza Stark Marked gene: SLC1A1 as ready
Aminoacidopathy v1.69 SLC1A1 Zornitza Stark Gene: slc1a1 has been classified as Amber List (Moderate Evidence).
Aminoacidopathy v1.69 SLC1A1 Zornitza Stark Classified gene: SLC1A1 as Amber List (moderate evidence)
Aminoacidopathy v1.69 SLC1A1 Zornitza Stark Gene: slc1a1 has been classified as Amber List (Moderate Evidence).
Aminoacidopathy v1.68 SLC1A2 Zornitza Stark Marked gene: SLC1A2 as ready
Aminoacidopathy v1.68 SLC1A2 Zornitza Stark Gene: slc1a2 has been classified as Green List (High Evidence).
Aminoacidopathy v1.68 SLC1A2 Zornitza Stark Classified gene: SLC1A2 as Green List (high evidence)
Aminoacidopathy v1.68 SLC1A2 Zornitza Stark Gene: slc1a2 has been classified as Green List (High Evidence).
Aminoacidopathy v1.67 SLC1A3 Zornitza Stark Marked gene: SLC1A3 as ready
Aminoacidopathy v1.67 SLC1A3 Zornitza Stark Gene: slc1a3 has been classified as Green List (High Evidence).
Aminoacidopathy v1.67 SLC1A3 Zornitza Stark Classified gene: SLC1A3 as Green List (high evidence)
Aminoacidopathy v1.67 SLC1A3 Zornitza Stark Gene: slc1a3 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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
Aminoacidopathy v1.66 HGD Zornitza Stark Marked gene: HGD as ready
Aminoacidopathy v1.66 HGD Zornitza Stark Gene: hgd has been classified as Green List (High Evidence).
Aminoacidopathy v1.66 HGD Zornitza Stark Classified gene: HGD as Green List (high evidence)
Aminoacidopathy v1.66 HGD Zornitza Stark Gene: hgd has been classified as Green List (High Evidence).
Aminoacidopathy v1.65 HIBADH Zornitza Stark Marked gene: HIBADH as ready
Aminoacidopathy v1.65 HIBADH Zornitza Stark Gene: hibadh has been classified as Red List (Low Evidence).
Aminoacidopathy v1.65 HIBADH Zornitza Stark Classified gene: HIBADH as Red List (low evidence)
Aminoacidopathy v1.65 HIBADH Zornitza Stark Gene: hibadh has been classified as Red List (Low Evidence).
Aminoacidopathy v1.64 HPD Zornitza Stark Marked gene: HPD as ready
Aminoacidopathy v1.64 HPD Zornitza Stark Gene: hpd has been classified as Green List (High Evidence).
Aminoacidopathy v1.64 HPD Zornitza Stark Classified gene: HPD as Green List (high evidence)
Aminoacidopathy v1.64 HPD Zornitza Stark Gene: hpd has been classified as Green List (High Evidence).
Aminoacidopathy v1.63 HYKK Zornitza Stark Marked gene: HYKK as ready
Aminoacidopathy v1.63 HYKK Zornitza Stark Gene: hykk has been classified as Red List (Low Evidence).
Aminoacidopathy v1.63 HYKK Zornitza Stark Classified gene: HYKK as Red List (low evidence)
Aminoacidopathy v1.63 HYKK Zornitza Stark Gene: hykk has been classified as Red List (Low Evidence).
Aminoacidopathy v1.62 KMO Zornitza Stark Marked gene: KMO as ready
Aminoacidopathy v1.62 KMO Zornitza Stark Gene: kmo has been classified as Red List (Low Evidence).
Aminoacidopathy v1.62 KMO Zornitza Stark Classified gene: KMO as Red List (low evidence)
Aminoacidopathy v1.62 KMO Zornitza Stark Gene: kmo has been classified as Red List (Low Evidence).
Aminoacidopathy v1.61 KYNU Zornitza Stark Marked gene: KYNU as ready
Aminoacidopathy v1.61 KYNU Zornitza Stark Gene: kynu has been classified as Green List (High Evidence).
Aminoacidopathy v1.61 KYNU Zornitza Stark Classified gene: KYNU as Green List (high evidence)
Aminoacidopathy v1.61 KYNU Zornitza Stark Gene: kynu has been classified as Green List (High Evidence).
Aminoacidopathy v1.60 LMBRD1 Zornitza Stark Marked gene: LMBRD1 as ready
Aminoacidopathy v1.60 LMBRD1 Zornitza Stark Gene: lmbrd1 has been classified as Green List (High Evidence).
Aminoacidopathy v1.60 LMBRD1 Zornitza Stark Classified gene: LMBRD1 as Green List (high evidence)
Aminoacidopathy v1.60 LMBRD1 Zornitza Stark Gene: lmbrd1 has been classified as Green List (High Evidence).
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
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
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
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
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
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
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
Aminoacidopathy v1.59 HAL Zornitza Stark Marked gene: HAL as ready
Aminoacidopathy v1.59 HAL Zornitza Stark Gene: hal has been classified as Red List (Low Evidence).
Aminoacidopathy v1.59 HAL Zornitza Stark Classified gene: HAL as Red List (low evidence)
Aminoacidopathy v1.59 HAL Zornitza Stark Gene: hal has been classified as Red List (Low Evidence).
Aminoacidopathy v1.58 HAAO Zornitza Stark Marked gene: HAAO as ready
Aminoacidopathy v1.58 HAAO Zornitza Stark Gene: haao has been classified as Green List (High Evidence).
Aminoacidopathy v1.58 HAAO Zornitza Stark Classified gene: HAAO as Green List (high evidence)
Aminoacidopathy v1.58 HAAO Zornitza Stark Gene: haao has been classified as Green List (High Evidence).
Aminoacidopathy v1.57 GSTZ1 Zornitza Stark Marked gene: GSTZ1 as ready
Aminoacidopathy v1.57 GSTZ1 Zornitza Stark Gene: gstz1 has been classified as Red List (Low Evidence).
Aminoacidopathy v1.57 GSTZ1 Zornitza Stark Classified gene: GSTZ1 as Red List (low evidence)
Aminoacidopathy v1.57 GSTZ1 Zornitza Stark Gene: gstz1 has been classified as Red List (Low Evidence).
Aminoacidopathy v1.56 GSS Zornitza Stark Marked gene: GSS as ready
Aminoacidopathy v1.56 GSS Zornitza Stark Gene: gss has been classified as Green List (High Evidence).
Aminoacidopathy v1.56 GSS Zornitza Stark Classified gene: GSS as Green List (high evidence)
Aminoacidopathy v1.56 GSS Zornitza Stark Gene: gss has been classified as Green List (High Evidence).
Aminoacidopathy v1.55 GNMT Zornitza Stark Marked gene: GNMT as ready
Aminoacidopathy v1.55 GNMT Zornitza Stark Gene: gnmt has been classified as Red List (Low Evidence).
Aminoacidopathy v1.55 GNMT Zornitza Stark Classified gene: GNMT as Red List (low evidence)
Aminoacidopathy v1.55 GNMT Zornitza Stark Gene: gnmt has been classified as Red List (Low Evidence).
Aminoacidopathy v1.54 GLUL Zornitza Stark Marked gene: GLUL as ready
Aminoacidopathy v1.54 GLUL Zornitza Stark Gene: glul has been classified as Green List (High Evidence).
Aminoacidopathy v1.54 GLUL Zornitza Stark Classified gene: GLUL as Green List (high evidence)
Aminoacidopathy v1.54 GLUL Zornitza Stark Gene: glul has been classified as Green List (High Evidence).
Aminoacidopathy v1.53 GLUD1 Zornitza Stark Marked gene: GLUD1 as ready
Aminoacidopathy v1.53 GLUD1 Zornitza Stark Gene: glud1 has been classified as Green List (High Evidence).
Aminoacidopathy v1.53 GLUD1 Zornitza Stark Classified gene: GLUD1 as Green List (high evidence)
Aminoacidopathy v1.53 GLUD1 Zornitza Stark Gene: glud1 has been classified as Green List (High Evidence).
Aminoacidopathy v1.52 GLS Zornitza Stark Marked gene: GLS as ready
Aminoacidopathy v1.52 GLS Zornitza Stark Gene: gls has been classified as Green List (High Evidence).
Aminoacidopathy v1.52 GLS Zornitza Stark Classified gene: GLS as Green List (high evidence)
Aminoacidopathy v1.52 GLS Zornitza Stark Gene: gls has been classified as Green List (High Evidence).
Aminoacidopathy v1.51 GLDC Zornitza Stark Marked gene: GLDC as ready
Aminoacidopathy v1.51 GLDC Zornitza Stark Gene: gldc has been classified as Green List (High Evidence).
Aminoacidopathy v1.51 GLDC Zornitza Stark Classified gene: GLDC as Green List (high evidence)
Aminoacidopathy v1.51 GLDC Zornitza Stark Gene: gldc has been classified as Green List (High Evidence).
Aminoacidopathy v1.50 GCSH Zornitza Stark Marked gene: GCSH as ready
Aminoacidopathy v1.50 GCSH Zornitza Stark Gene: gcsh has been classified as Green List (High Evidence).
Aminoacidopathy v1.50 GCSH Zornitza Stark Classified gene: GCSH as Green List (high evidence)
Aminoacidopathy v1.50 GCSH Zornitza Stark Gene: gcsh has been classified as Green List (High Evidence).
Aminoacidopathy v1.49 GCH1 Zornitza Stark Marked gene: GCH1 as ready
Aminoacidopathy v1.49 GCH1 Zornitza Stark Gene: gch1 has been classified as Green List (High Evidence).
Aminoacidopathy v1.49 GCH1 Zornitza Stark Classified gene: GCH1 as Green List (high evidence)
Aminoacidopathy v1.49 GCH1 Zornitza Stark Gene: gch1 has been classified as Green List (High Evidence).
Aminoacidopathy v1.48 GCDH Zornitza Stark Marked gene: GCDH as ready
Aminoacidopathy v1.48 GCDH Zornitza Stark Gene: gcdh has been classified as Green List (High Evidence).
Aminoacidopathy v1.48 GCDH Zornitza Stark Classified gene: GCDH as Green List (high evidence)
Aminoacidopathy v1.48 GCDH Zornitza Stark Gene: gcdh has been classified as Green List (High Evidence).
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
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
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
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
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
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
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
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
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
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
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
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
Aminoacidopathy v1.47 GAD1 Zornitza Stark Marked gene: GAD1 as ready
Aminoacidopathy v1.47 GAD1 Zornitza Stark Gene: gad1 has been classified as Green List (High Evidence).
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 v1.46 GAD1 Zornitza Stark Classified gene: GAD1 as Green List (high evidence)
Aminoacidopathy v1.46 GAD1 Zornitza Stark Gene: gad1 has been classified as Green List (High Evidence).
Aminoacidopathy v1.45 FMO3 Zornitza Stark Marked gene: FMO3 as ready
Aminoacidopathy v1.45 FMO3 Zornitza Stark Gene: fmo3 has been classified as Green List (High Evidence).
Aminoacidopathy v1.45 FMO3 Zornitza Stark Classified gene: FMO3 as Green List (high evidence)
Aminoacidopathy v1.45 FMO3 Zornitza Stark Gene: fmo3 has been classified as Green List (High Evidence).
Aminoacidopathy v1.44 FAH Zornitza Stark Marked gene: FAH as ready
Aminoacidopathy v1.44 FAH Zornitza Stark Gene: fah has been classified as Green List (High Evidence).
Aminoacidopathy v1.44 FAH Zornitza Stark Classified gene: FAH as Green List (high evidence)
Aminoacidopathy v1.44 FAH Zornitza Stark Gene: fah has been classified as Green List (High Evidence).
Aminoacidopathy v1.43 DNAJC12 Zornitza Stark Marked gene: DNAJC12 as ready
Aminoacidopathy v1.43 DNAJC12 Zornitza Stark Gene: dnajc12 has been classified as Green List (High Evidence).
Aminoacidopathy v1.43 DNAJC12 Zornitza Stark Publications for gene: DNAJC12 were set to 28132689, 30179615, 28892570, 28794131, 30139987
Aminoacidopathy v1.42 DNAJC12 Zornitza Stark Classified gene: DNAJC12 as Green List (high evidence)
Aminoacidopathy v1.42 DNAJC12 Zornitza Stark Gene: dnajc12 has been classified as Green List (High Evidence).
Aminoacidopathy v1.41 DMGDH Zornitza Stark Marked gene: DMGDH as ready
Aminoacidopathy v1.41 DMGDH Zornitza Stark Gene: dmgdh has been classified as Red List (Low Evidence).
Aminoacidopathy v1.41 DMGDH Zornitza Stark Classified gene: DMGDH as Red List (low evidence)
Aminoacidopathy v1.41 DMGDH Zornitza Stark Gene: dmgdh has been classified as Red List (Low Evidence).
Aminoacidopathy v1.40 DHTKD1 Zornitza Stark Marked gene: DHTKD1 as ready
Aminoacidopathy v1.40 DHTKD1 Zornitza Stark Gene: dhtkd1 has been classified as Green List (High Evidence).
Aminoacidopathy v1.40 DHTKD1 Zornitza Stark Publications for gene: DHTKD1 were set to 26141459, 25860818, 23141293
Aminoacidopathy v1.39 DHTKD1 Zornitza Stark Classified gene: DHTKD1 as Green List (high evidence)
Aminoacidopathy v1.39 DHTKD1 Zornitza Stark Gene: dhtkd1 has been classified as Green List (High Evidence).
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 v1.37 CPS1 Zornitza Stark Marked gene: CPS1 as ready
Aminoacidopathy v1.37 CPS1 Zornitza Stark Gene: cps1 has been classified as Green List (High Evidence).
Aminoacidopathy v1.37 CPS1 Zornitza Stark Classified gene: CPS1 as Green List (high evidence)
Aminoacidopathy v1.37 CPS1 Zornitza Stark Gene: cps1 has been classified as Green List (High Evidence).
Aminoacidopathy v1.36 CBS Zornitza Stark Marked gene: CBS as ready
Aminoacidopathy v1.36 CBS Zornitza Stark Gene: cbs has been classified as Green List (High Evidence).
Aminoacidopathy v1.36 CBS Zornitza Stark Classified gene: CBS as Green List (high evidence)
Aminoacidopathy v1.36 CBS Zornitza Stark Gene: cbs has been classified as Green List (High Evidence).
Aminoacidopathy v1.35 CA5A Zornitza Stark Marked gene: CA5A as ready
Aminoacidopathy v1.35 CA5A Zornitza Stark Gene: ca5a has been classified as Green List (High Evidence).
Aminoacidopathy v1.35 CA5A Zornitza Stark Publications for gene: CA5A were set to 24530203, 26913920, 23589845
Aminoacidopathy v1.34 CA5A Zornitza Stark Classified gene: CA5A as Green List (high evidence)
Aminoacidopathy v1.34 CA5A Zornitza Stark Gene: ca5a has been classified as Green List (High Evidence).
Aminoacidopathy v1.33 ASS1 Zornitza Stark Marked gene: ASS1 as ready
Aminoacidopathy v1.33 ASS1 Zornitza Stark Gene: ass1 has been classified as Green List (High Evidence).
Aminoacidopathy v1.33 ASS1 Zornitza Stark Classified gene: ASS1 as Green List (high evidence)
Aminoacidopathy v1.33 ASS1 Zornitza Stark Gene: ass1 has been classified as Green List (High Evidence).
Aminoacidopathy v1.32 ALDH7A1 Zornitza Stark Marked gene: ALDH7A1 as ready
Aminoacidopathy v1.32 ALDH7A1 Zornitza Stark Gene: aldh7a1 has been classified as Green List (High Evidence).
Aminoacidopathy v1.32 ALDH7A1 Zornitza Stark Publications for gene: ALDH7A1 were set to 19142996, 16491085, 22784480, 29053735
Aminoacidopathy v1.31 ALDH7A1 Zornitza Stark Classified gene: ALDH7A1 as Green List (high evidence)
Aminoacidopathy v1.31 ALDH7A1 Zornitza Stark Gene: aldh7a1 has been classified as Green List (High Evidence).
Aminoacidopathy v1.30 ALDH4A1 Zornitza Stark Marked gene: ALDH4A1 as ready
Aminoacidopathy v1.30 ALDH4A1 Zornitza Stark Gene: aldh4a1 has been classified as Green List (High Evidence).
Aminoacidopathy v1.30 ALDH4A1 Zornitza Stark Publications for gene: ALDH4A1 were set to 2624476, 13835167, 4369405, 8621661
Aminoacidopathy v1.29 ALDH4A1 Zornitza Stark Classified gene: ALDH4A1 as Green List (high evidence)
Aminoacidopathy v1.29 ALDH4A1 Zornitza Stark Gene: aldh4a1 has been classified as Green List (High Evidence).
Aminoacidopathy v1.28 ALDH18A1 Zornitza Stark Marked gene: ALDH18A1 as ready
Aminoacidopathy v1.28 ALDH18A1 Zornitza Stark Gene: aldh18a1 has been classified as Green List (High Evidence).
Aminoacidopathy v1.28 ALDH18A1 Zornitza Stark Publications for gene: ALDH18A1 were set to 32017139, 26026163, 26320891
Aminoacidopathy v1.27 ALDH18A1 Zornitza Stark Classified gene: ALDH18A1 as Green List (high evidence)
Aminoacidopathy v1.27 ALDH18A1 Zornitza Stark Gene: aldh18a1 has been classified as Green List (High Evidence).
Aminoacidopathy v1.26 AHCY Zornitza Stark Marked gene: AHCY as ready
Aminoacidopathy v1.26 AHCY Zornitza Stark Gene: ahcy has been classified as Green List (High Evidence).
Aminoacidopathy v1.26 AHCY Zornitza Stark Publications for gene: AHCY were set to 13641268, 15024124, 16736098, 20852937, 22959829, 30121674, 26527160, 26095522, 27848944, 31957987, 35463910
Aminoacidopathy v1.25 AHCY Zornitza Stark Classified gene: AHCY as Green List (high evidence)
Aminoacidopathy v1.25 AHCY Zornitza Stark Gene: ahcy has been classified as Green List (High Evidence).
Aminoacidopathy v1.24 ADK Zornitza Stark Marked gene: ADK as ready
Aminoacidopathy v1.24 ADK Zornitza Stark Gene: adk has been classified as Green List (High Evidence).
Aminoacidopathy v1.24 ADK Zornitza Stark Publications for gene: ADK were set to 21963049, 26642971, 33309011, 27671891
Aminoacidopathy v1.23 ADK Zornitza Stark Classified gene: ADK as Green List (high evidence)
Aminoacidopathy v1.23 ADK Zornitza Stark Gene: adk has been classified as Green List (High Evidence).
Aminoacidopathy v1.22 ACY1 Zornitza Stark Marked gene: ACY1 as ready
Aminoacidopathy v1.22 ACY1 Zornitza Stark Gene: acy1 has been classified as Green List (High Evidence).
Aminoacidopathy v1.22 ACY1 Zornitza Stark Publications for gene: ACY1 were set to 4997716, 24117009, 16465618, 17562838, 21414403, 16274666, 20480396
Aminoacidopathy v1.21 ACY1 Zornitza Stark Classified gene: ACY1 as Green List (high evidence)
Aminoacidopathy v1.21 ACY1 Zornitza Stark Gene: acy1 has been classified as Green List (High Evidence).
Aminoacidopathy v1.20 GAMT Zornitza Stark Marked gene: GAMT as ready
Aminoacidopathy v1.20 GAMT Zornitza Stark Gene: gamt has been classified as Green List (High Evidence).
Aminoacidopathy v1.20 GAMT Zornitza Stark Classified gene: GAMT as Green List (high evidence)
Aminoacidopathy v1.20 GAMT Zornitza Stark Gene: gamt has been classified as Green List (High Evidence).
Aminoacidopathy v1.19 GATM Zornitza Stark Marked gene: GATM as ready
Aminoacidopathy v1.19 GATM Zornitza Stark Gene: gatm has been classified as Green List (High Evidence).
Aminoacidopathy v1.19 GATM Zornitza Stark Classified gene: GATM as Green List (high evidence)
Aminoacidopathy v1.19 GATM Zornitza Stark Gene: gatm 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
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
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
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
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
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
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
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
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
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
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
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
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
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
Aminoacidopathy v1.18 ARG1 Zornitza Stark Marked gene: ARG1 as ready
Aminoacidopathy v1.18 ARG1 Zornitza Stark Gene: arg1 has been classified as Green List (High Evidence).
Aminoacidopathy v1.18 ARG1 Zornitza Stark Publications for gene: ARG1 were set to 16747805, 23859858, 1463019, 1598908, 12052859, 23920045
Aminoacidopathy v1.17 ARG1 Zornitza Stark Classified gene: ARG1 as Green List (high evidence)
Aminoacidopathy v1.17 ARG1 Zornitza Stark Gene: arg1 has been classified as Green List (High Evidence).
Aminoacidopathy v1.16 AMT Zornitza Stark Marked gene: AMT as ready
Aminoacidopathy v1.16 AMT Zornitza Stark Gene: amt has been classified as Green List (High Evidence).
Aminoacidopathy v1.16 AMT Zornitza Stark Publications for gene: AMT were set to 27362913, 8005589, 25231368, 26179960, 26371980, 27164344, 6863283, 18941301
Aminoacidopathy v1.15 AMT Zornitza Stark Classified gene: AMT as Green List (high evidence)
Aminoacidopathy v1.15 AMT Zornitza Stark Gene: amt has been classified as Green List (High Evidence).
Aminoacidopathy v1.14 ASL Zornitza Stark Marked gene: ASL as ready
Aminoacidopathy v1.14 ASL Zornitza Stark Gene: asl has been classified as Green List (High Evidence).
Aminoacidopathy v1.14 ASL Zornitza Stark Publications for gene: ASL were set to 2263616, 17326097, 19703900, 12559843, 22081021
Aminoacidopathy v1.13 ASL Zornitza Stark Classified gene: ASL as Green List (high evidence)
Aminoacidopathy v1.13 ASL Zornitza Stark Gene: asl has been classified as Green List (High Evidence).
Aminoacidopathy v1.12 ASNS Zornitza Stark Marked gene: ASNS as ready
Aminoacidopathy v1.12 ASNS Zornitza Stark Gene: asns has been classified as Green List (High Evidence).
Aminoacidopathy v1.12 ASNS Zornitza Stark Publications for gene: ASNS were set to 29375865, 25663424, 25227173, 29405484, 28776279, 30315573
Aminoacidopathy v1.11 ASNS Zornitza Stark Classified gene: ASNS as Green List (high evidence)
Aminoacidopathy v1.11 ASNS Zornitza Stark Gene: asns has been classified as Green List (High Evidence).
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 v1.10 AGA Zornitza Stark Marked gene: AGA as ready
Aminoacidopathy v1.10 AGA Zornitza Stark Gene: aga has been classified as Green List (High Evidence).
Aminoacidopathy v1.10 AGA Zornitza Stark Classified gene: AGA as Green List (high evidence)
Aminoacidopathy v1.10 AGA Zornitza Stark Gene: aga has been classified as Green List (High Evidence).
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
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
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
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
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
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
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
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
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
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
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
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
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
Aminoacidopathy v1.9 AASS Zornitza Stark Marked gene: AASS as ready
Aminoacidopathy v1.9 AASS Zornitza Stark Gene: aass has been classified as Green List (High Evidence).
Aminoacidopathy v1.9 AASS Zornitza Stark Publications for gene: AASS were set to 23890588, 10775527, 27604308, 23570448; 35135854
Aminoacidopathy v1.8 AASS Zornitza Stark Classified gene: AASS as Green List (high evidence)
Aminoacidopathy v1.8 AASS Zornitza Stark Gene: aass has been classified as Green List (High Evidence).
Aminoacidopathy v1.7 ACSF3 Zornitza Stark Marked gene: ACSF3 as ready
Aminoacidopathy v1.7 ACSF3 Zornitza Stark Gene: acsf3 has been classified as Green List (High Evidence).
Aminoacidopathy v1.7 ACSF3 Zornitza Stark Classified gene: ACSF3 as Green List (high evidence)
Aminoacidopathy v1.7 ACSF3 Zornitza Stark Gene: acsf3 has been classified as Green List (High Evidence).
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
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
Aminoacidopathy v1.6 Bryony Thompson Panel name changed from Disorders of branched chain amino acid metabolism to Aminoacidopathy
Aminoacidopathy v1.5 MCCC1 Bryony Thompson Publications for gene: MCCC1 were set to 29152456; 31730530; 27604308; 11170888
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 v1.4 PPM1K Zornitza Stark Phenotypes for gene: PPM1K were changed from maple syrup urine disease, mild variant MONDO:0014057 to Maple syrup urine disease, mild variant MONDO:0014057
Aminoacidopathy v1.3 PPM1K Zornitza Stark Publications for gene: PPM1K were set to 29152456; 23086801
Aminoacidopathy v1.2 PPM1K Zornitza Stark Classified gene: PPM1K as Amber List (moderate evidence)
Aminoacidopathy v1.2 PPM1K Zornitza Stark Gene: ppm1k has been classified as Amber List (Moderate Evidence).
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 v1.1 Zornitza Stark HPO terms changed from to Abnormality of amino acid metabolism, HP:0004337
List of related panels changed from to Abnormality of amino acid metabolism; HP:0004337
Panel types changed to Victorian Clinical Genetics Services; Royal Melbourne Hospital; Rare Disease
Aminoacidopathy v1.0 BCKDK Zornitza Stark Tag treatable tag was added to gene: BCKDK.
Aminoacidopathy v1.0 PCCB Zornitza Stark Tag treatable tag was added to gene: PCCB.
Aminoacidopathy v1.0 PCCA Zornitza Stark Tag treatable tag was added to gene: PCCA.
Aminoacidopathy v1.0 MMAB Zornitza Stark Tag treatable tag was added to gene: MMAB.
Aminoacidopathy v1.0 MMAA Zornitza Stark Tag treatable tag was added to gene: MMAA.
Aminoacidopathy v1.0 IVD Zornitza Stark Tag treatable tag was added to gene: IVD.
Aminoacidopathy v1.0 MMADHC Zornitza Stark Tag treatable tag was added to gene: MMADHC.
Aminoacidopathy v1.0 BCKDHB Zornitza Stark Tag treatable tag was added to gene: BCKDHB.
Aminoacidopathy v1.0 BCKDHA Zornitza Stark Tag treatable tag was added to gene: BCKDHA.
Aminoacidopathy v1.0 DBT Zornitza Stark Tag treatable tag was added to gene: DBT.
Aminoacidopathy v1.0 HMGCL Zornitza Stark Tag treatable tag was added to gene: HMGCL.
Aminoacidopathy v1.0 ACAT1 Zornitza Stark Tag treatable tag was added to gene: ACAT1.
Aminoacidopathy v1.0 Bryony Thompson promoted panel to version 1.0
Aminoacidopathy v0.49 Bryony Thompson Panel status changed from internal to public
Panel types changed to Royal Melbourne Hospital; Rare Disease
Aminoacidopathy v0.48 TAZ Bryony Thompson Marked gene: TAZ as ready
Aminoacidopathy v0.48 TAZ Bryony Thompson Gene: taz has been classified as Green List (High Evidence).
Aminoacidopathy v0.48 TAZ Bryony Thompson Classified gene: TAZ as Green List (high evidence)
Aminoacidopathy v0.48 TAZ Bryony Thompson Gene: taz has been classified as Green List (High Evidence).
Aminoacidopathy v0.47 SERAC1 Bryony Thompson Marked gene: SERAC1 as ready
Aminoacidopathy v0.47 SERAC1 Bryony Thompson Gene: serac1 has been classified as Green List (High Evidence).
Aminoacidopathy v0.47 SERAC1 Bryony Thompson Publications for gene: SERAC1 were set to 29152456
Aminoacidopathy v0.46 SERAC1 Bryony Thompson Classified gene: SERAC1 as Green List (high evidence)
Aminoacidopathy v0.46 SERAC1 Bryony Thompson Gene: serac1 has been classified as Green List (High Evidence).
Aminoacidopathy v0.45 PCCB Bryony Thompson Marked gene: PCCB as ready
Aminoacidopathy v0.45 PCCB Bryony Thompson Gene: pccb has been classified as Green List (High Evidence).
Aminoacidopathy v0.45 PCCB Bryony Thompson Publications for gene: PCCB were set to 29152456
Aminoacidopathy v0.44 PCCB Bryony Thompson Classified gene: PCCB as Green List (high evidence)
Aminoacidopathy v0.44 PCCB Bryony Thompson Gene: pccb has been classified as Green List (High Evidence).
Aminoacidopathy v0.43 PCCA Bryony Thompson Classified gene: PCCA as Green List (high evidence)
Aminoacidopathy v0.43 PCCA Bryony Thompson Gene: pcca has been classified as Green List (High Evidence).
Aminoacidopathy v0.42 PCCA Bryony Thompson Marked gene: PCCA as ready
Aminoacidopathy v0.42 PCCA Bryony Thompson Gene: pcca has been classified as Red List (Low Evidence).
Aminoacidopathy v0.42 PCCA Bryony Thompson Publications for gene: PCCA were set to 29152456
Aminoacidopathy v0.41 OPA3 Bryony Thompson Classified gene: OPA3 as Green List (high evidence)
Aminoacidopathy v0.41 OPA3 Bryony Thompson Gene: opa3 has been classified as Green List (High Evidence).
Aminoacidopathy v0.40 MUT Bryony Thompson Marked gene: MUT as ready
Aminoacidopathy v0.40 MUT Bryony Thompson Gene: mut has been classified as Green List (High Evidence).
Aminoacidopathy v0.40 MUT Bryony Thompson Publications for gene: MUT were set to 29152456
Aminoacidopathy v0.39 MUT Bryony Thompson Classified gene: MUT as Green List (high evidence)
Aminoacidopathy v0.39 MUT Bryony Thompson Gene: mut has been classified as Green List (High Evidence).
Aminoacidopathy v0.38 MMADHC Bryony Thompson Marked gene: MMADHC as ready
Aminoacidopathy v0.38 MMADHC Bryony Thompson Gene: mmadhc has been classified as Green List (High Evidence).
Aminoacidopathy v0.38 MMADHC Bryony Thompson Publications for gene: MMADHC were set to 29152456
Aminoacidopathy v0.37 MMADHC Bryony Thompson Classified gene: MMADHC as Green List (high evidence)
Aminoacidopathy v0.37 MMADHC Bryony Thompson Gene: mmadhc has been classified as Green List (High Evidence).
Aminoacidopathy v0.36 MMAB Bryony Thompson Marked gene: MMAB as ready
Aminoacidopathy v0.36 MMAB Bryony Thompson Gene: mmab has been classified as Green List (High Evidence).
Aminoacidopathy v0.36 MMAB Bryony Thompson Classified gene: MMAB as Green List (high evidence)
Aminoacidopathy v0.36 MMAB Bryony Thompson Gene: mmab has been classified as Green List (High Evidence).
Aminoacidopathy v0.35 MMAA Bryony Thompson Marked gene: MMAA as ready
Aminoacidopathy v0.35 MMAA Bryony Thompson Gene: mmaa has been classified as Green List (High Evidence).
Aminoacidopathy v0.35 MMAA Bryony Thompson Classified gene: MMAA as Green List (high evidence)
Aminoacidopathy v0.35 MMAA Bryony Thompson Gene: mmaa has been classified as Green List (High Evidence).
Aminoacidopathy v0.34 MCCC2 Bryony Thompson Marked gene: MCCC2 as ready
Aminoacidopathy v0.34 MCCC2 Bryony Thompson Gene: mccc2 has been classified as Green List (High Evidence).
Aminoacidopathy v0.34 MCCC2 Bryony Thompson Publications for gene: MCCC2 were set to 29152456
Aminoacidopathy v0.33 MCCC2 Bryony Thompson Classified gene: MCCC2 as Green List (high evidence)
Aminoacidopathy v0.33 MCCC2 Bryony Thompson Gene: mccc2 has been classified as Green List (High Evidence).
Aminoacidopathy v0.32 MCCC1 Bryony Thompson Marked gene: MCCC1 as ready
Aminoacidopathy v0.32 MCCC1 Bryony Thompson Gene: mccc1 has been classified as Green List (High Evidence).
Aminoacidopathy v0.32 MCCC1 Bryony Thompson Publications for gene: MCCC1 were set to 29152456
Aminoacidopathy v0.31 MCCC1 Bryony Thompson Classified gene: MCCC1 as Green List (high evidence)
Aminoacidopathy v0.31 MCCC1 Bryony Thompson Gene: mccc1 has been classified as Green List (High Evidence).
Aminoacidopathy v0.30 IVD Bryony Thompson Marked gene: IVD as ready
Aminoacidopathy v0.30 IVD Bryony Thompson Gene: ivd has been classified as Green List (High Evidence).
Aminoacidopathy v0.30 IVD Bryony Thompson Publications for gene: IVD were set to 29152456
Aminoacidopathy v0.29 IVD Bryony Thompson Classified gene: IVD as Green List (high evidence)
Aminoacidopathy v0.29 IVD Bryony Thompson Gene: ivd has been classified as Green List (High Evidence).
Aminoacidopathy v0.28 HMGCL Bryony Thompson Marked gene: HMGCL as ready
Aminoacidopathy v0.28 HMGCL Bryony Thompson Gene: hmgcl has been classified as Green List (High Evidence).
Aminoacidopathy v0.28 HMGCL Bryony Thompson Publications for gene: HMGCL were set to 29152456
Aminoacidopathy v0.27 HMGCL Bryony Thompson Classified gene: HMGCL as Green List (high evidence)
Aminoacidopathy v0.27 HMGCL Bryony Thompson Gene: hmgcl has been classified as Green List (High Evidence).
Aminoacidopathy v0.26 HIBCH Bryony Thompson Marked gene: HIBCH as ready
Aminoacidopathy v0.26 HIBCH Bryony Thompson Gene: hibch has been classified as Green List (High Evidence).
Aminoacidopathy v0.26 HIBCH Bryony Thompson Publications for gene: HIBCH were set to 29152456
Aminoacidopathy v0.25 HIBCH Bryony Thompson Classified gene: HIBCH as Green List (high evidence)
Aminoacidopathy v0.25 HIBCH Bryony Thompson Gene: hibch has been classified as Green List (High Evidence).
Aminoacidopathy v0.24 DNAJC19 Bryony Thompson Marked gene: DNAJC19 as ready
Aminoacidopathy v0.24 DNAJC19 Bryony Thompson Gene: dnajc19 has been classified as Green List (High Evidence).
Aminoacidopathy v0.24 DNAJC19 Bryony Thompson Publications for gene: DNAJC19 were set to 29152456
Aminoacidopathy v0.23 DNAJC19 Bryony Thompson Classified gene: DNAJC19 as Green List (high evidence)
Aminoacidopathy v0.23 DNAJC19 Bryony Thompson Gene: dnajc19 has been classified as Green List (High Evidence).
Aminoacidopathy v0.22 CLPB Bryony Thompson Marked gene: CLPB as ready
Aminoacidopathy v0.22 CLPB Bryony Thompson Gene: clpb has been classified as Green List (High Evidence).
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 v0.21 CLPB Bryony Thompson Publications for gene: CLPB were set to 29152456
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 v0.19 CLPB Bryony Thompson Classified gene: CLPB as Green List (high evidence)
Aminoacidopathy v0.19 CLPB Bryony Thompson Gene: clpb has been classified as Green List (High Evidence).
Aminoacidopathy v0.18 AUH Bryony Thompson Marked gene: AUH as ready
Aminoacidopathy v0.18 AUH Bryony Thompson Gene: auh has been classified as Green List (High Evidence).
Aminoacidopathy v0.18 AUH Bryony Thompson Publications for gene: AUH were set to 29152456
Aminoacidopathy v0.17 AUH Bryony Thompson Classified gene: AUH as Green List (high evidence)
Aminoacidopathy v0.17 AUH Bryony Thompson Gene: auh has been classified as Green List (High Evidence).
Aminoacidopathy v0.16 ALDH6A1 Bryony Thompson Marked gene: ALDH6A1 as ready
Aminoacidopathy v0.16 ALDH6A1 Bryony Thompson Gene: aldh6a1 has been classified as Green List (High Evidence).
Aminoacidopathy v0.16 ALDH6A1 Bryony Thompson Publications for gene: ALDH6A1 were set to 29152456
Aminoacidopathy v0.15 ALDH6A1 Bryony Thompson Classified gene: ALDH6A1 as Green List (high evidence)
Aminoacidopathy v0.15 ALDH6A1 Bryony Thompson Gene: aldh6a1 has been classified as Green List (High Evidence).
Aminoacidopathy v0.14 ACAT1 Bryony Thompson Marked gene: ACAT1 as ready
Aminoacidopathy v0.14 ACAT1 Bryony Thompson Gene: acat1 has been classified as Green List (High Evidence).
Aminoacidopathy v0.14 ACAT1 Bryony Thompson Classified gene: ACAT1 as Green List (high evidence)
Aminoacidopathy v0.14 ACAT1 Bryony Thompson Gene: acat1 has been classified as Green List (High Evidence).
Aminoacidopathy v0.13 ACADSB Bryony Thompson Marked gene: ACADSB as ready
Aminoacidopathy v0.13 ACADSB Bryony Thompson Gene: acadsb has been classified as Green List (High Evidence).
Aminoacidopathy v0.13 ACADSB Bryony Thompson Publications for gene: ACADSB were set to 29152456
Aminoacidopathy v0.12 ACADSB Bryony Thompson Classified gene: ACADSB as Green List (high evidence)
Aminoacidopathy v0.12 ACADSB Bryony Thompson Gene: acadsb has been classified as Green List (High Evidence).
Aminoacidopathy v0.11 ACAD8 Bryony Thompson Marked gene: ACAD8 as ready
Aminoacidopathy v0.11 ACAD8 Bryony Thompson Gene: acad8 has been classified as Green List (High Evidence).
Aminoacidopathy v0.11 ACAD8 Bryony Thompson Publications for gene: ACAD8 were set to 29152456
Aminoacidopathy v0.10 ACAD8 Bryony Thompson Classified gene: ACAD8 as Green List (high evidence)
Aminoacidopathy v0.10 ACAD8 Bryony Thompson Gene: acad8 has been classified as Green List (High Evidence).
Aminoacidopathy v0.9 DLD Bryony Thompson Marked gene: DLD as ready
Aminoacidopathy v0.9 DLD Bryony Thompson Gene: dld has been classified as Green List (High Evidence).
Aminoacidopathy v0.9 DLD Bryony Thompson Publications for gene: DLD were set to
Aminoacidopathy v0.8 DBT Bryony Thompson Marked gene: DBT as ready
Aminoacidopathy v0.8 DBT Bryony Thompson Gene: dbt has been classified as Green List (High Evidence).
Aminoacidopathy v0.8 DBT Bryony Thompson Publications for gene: DBT were set to 29152456
Aminoacidopathy v0.7 BCKDK Bryony Thompson Marked gene: BCKDK as ready
Aminoacidopathy v0.7 BCKDK Bryony Thompson Gene: bckdk has been classified as Green List (High Evidence).
Aminoacidopathy v0.7 BCKDK Bryony Thompson Publications for gene: BCKDK were set to
Aminoacidopathy v0.6 BCKDHB Bryony Thompson Marked gene: BCKDHB as ready
Aminoacidopathy v0.6 BCKDHB Bryony Thompson Gene: bckdhb has been classified as Green List (High Evidence).
Aminoacidopathy v0.6 BCKDHB Bryony Thompson Publications for gene: BCKDHB were set to 29152456
Aminoacidopathy v0.5 BCKDHA Bryony Thompson Marked gene: BCKDHA as ready
Aminoacidopathy v0.5 BCKDHA Bryony Thompson Gene: bckdha has been classified as Green List (High Evidence).
Aminoacidopathy v0.5 BCKDHA Bryony Thompson Publications for gene: BCKDHA were set to 29152456
Aminoacidopathy v0.4 BCAT2 Bryony Thompson Marked gene: BCAT2 as ready
Aminoacidopathy v0.4 BCAT2 Bryony Thompson Gene: bcat2 has been classified as Green List (High Evidence).
Aminoacidopathy v0.4 BCAT2 Bryony Thompson Publications for gene: BCAT2 were set to
Aminoacidopathy v0.3 PPM1K Bryony Thompson Marked gene: PPM1K as ready
Aminoacidopathy v0.3 PPM1K Bryony Thompson Gene: ppm1k has been classified as Red List (Low Evidence).
Aminoacidopathy v0.3 PPM1K Bryony Thompson Publications for gene: PPM1K were set to 29152456
Aminoacidopathy v0.2 PPM1K Bryony Thompson Classified gene: PPM1K as Red List (low evidence)
Aminoacidopathy v0.2 PPM1K Bryony Thompson Gene: ppm1k has been classified as Red List (Low Evidence).
Aminoacidopathy v0.0 DLD Bryony Thompson gene: DLD was added
gene: DLD was added to Disorders of branched chain amino acid metabolism. Sources: Expert Review Green
Mode of inheritance for gene: DLD was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: DLD were set to pyruvate dehydrogenase E3 deficiency MONDO:0009529
Aminoacidopathy v0.0 BCAT2 Bryony Thompson gene: BCAT2 was added
gene: BCAT2 was added to Disorders of branched chain amino acid metabolism. Sources: Expert Review Green
Mode of inheritance for gene: BCAT2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: BCAT2 were set to hypervalinemia and hyperleucine-isoleucinemia MONDO:0100058
Aminoacidopathy v0.0 BCKDK Bryony Thompson gene: BCKDK was added
gene: BCKDK was added to Disorders of branched chain amino acid metabolism. Sources: Expert Review Green
Mode of inheritance for gene: BCKDK was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: BCKDK were set to branched-chain keto acid dehydrogenase kinase deficiency MONDO:0013970
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
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
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
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
Aminoacidopathy v0.0 PCCB Bryony Thompson gene: PCCB was added
gene: PCCB was added to Disorders of branched chain amino acid metabolism. Sources: Literature
Mode of inheritance for gene: PCCB was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: PCCB were set to 29152456
Phenotypes for gene: PCCB were set to propionic acidemia MONDO:0011628
Aminoacidopathy v0.0 PCCA Bryony Thompson gene: PCCA was added
gene: PCCA was added to Disorders of branched chain amino acid metabolism. Sources: Literature
Mode of inheritance for gene: PCCA was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: PCCA were set to 29152456
Phenotypes for gene: PCCA were set to propionic acidemia MONDO:0011628
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
Aminoacidopathy v0.0 HIBCH Bryony Thompson gene: HIBCH was added
gene: HIBCH was added to Disorders of branched chain amino acid metabolism. Sources: Literature
Mode of inheritance for gene: HIBCH was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: HIBCH were set to 29152456
Phenotypes for gene: HIBCH were set to 3-hydroxyisobutyryl-CoA hydrolase deficiency MONDO:0009603
Aminoacidopathy v0.0 ACAD8 Bryony Thompson gene: ACAD8 was added
gene: ACAD8 was added to Disorders of branched chain amino acid metabolism. Sources: Literature
Mode of inheritance for gene: ACAD8 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ACAD8 were set to 29152456
Phenotypes for gene: ACAD8 were set to isobutyryl-CoA dehydrogenase deficiency MONDO:0012648
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
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
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
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
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
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
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
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
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
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
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
Aminoacidopathy v0.0 IVD Bryony Thompson gene: IVD was added
gene: IVD was added to Disorders of branched chain amino acid metabolism. Sources: Literature
Mode of inheritance for gene: IVD was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: IVD were set to 29152456
Phenotypes for gene: IVD were set to isovaleric acidemia MONDO:0009475
Aminoacidopathy v0.0 PPM1K Bryony Thompson gene: PPM1K was added
gene: PPM1K was added to Disorders of branched chain amino acid metabolism. Sources: Expert Review Green
Mode of inheritance for gene: PPM1K was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: PPM1K were set to 29152456
Phenotypes for gene: PPM1K were set to maple syrup urine disease, mild variant MONDO:0014057
Aminoacidopathy v0.0 DBT Bryony Thompson gene: DBT was added
gene: DBT was added to Disorders of branched chain amino acid metabolism. Sources: Expert Review Green
Mode of inheritance for gene: DBT was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: DBT were set to 29152456
Phenotypes for gene: DBT were set to maple syrup urine disease MONDO:0009563
Aminoacidopathy v0.0 BCKDHB Bryony Thompson gene: BCKDHB was added
gene: BCKDHB was added to Disorders of branched chain amino acid metabolism. Sources: Expert Review Green
Mode of inheritance for gene: BCKDHB was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: BCKDHB were set to 29152456
Phenotypes for gene: BCKDHB were set to maple syrup urine disease type 1B MONDO:0023692
Aminoacidopathy v0.0 BCKDHA Bryony Thompson gene: BCKDHA was added
gene: BCKDHA was added to Disorders of branched chain amino acid metabolism. Sources: Expert Review Green
Mode of inheritance for gene: BCKDHA was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: BCKDHA were set to 29152456
Phenotypes for gene: BCKDHA were set to maple syrup urine disease type 1A MONDO:0023691
Aminoacidopathy v0.0 Bryony Thompson Added panel Disorders of branched chain amino acid metabolism