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| Aminoacidopathy v1.113 | SLC25A22 |
Sangavi Sivagnanasundram gene: SLC25A22 was added gene: SLC25A22 was added to Aminoacidopathy. Sources: Other Mode of inheritance for gene: SLC25A22 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: SLC25A22 were set to 15592994; 19780765; 24596948 Phenotypes for gene: SLC25A22 were set to Developmental and epileptic encephalopathy MONDO:0100062 Review for gene: SLC25A22 was set to GREEN Added comment: Established gene-disease association with reported individuals having impaired mitochondrial glutamate transport. Three unrelated families reported with three different rare missense variants. Sources: Other |
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| Aminoacidopathy v1.95 | SLC6A6 |
Sangavi Sivagnanasundram gene: SLC6A6 was added gene: SLC6A6 was added to Aminoacidopathy. Sources: ClinGen Mode of inheritance for gene: SLC6A6 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: SLC6A6 were set to 31903486; 31345061 Phenotypes for gene: SLC6A6 were set to hypotaurinemic retinal degeneration and cardiomyopathy MONDO:0007777 Review for gene: SLC6A6 was set to AMBER Added comment: 4 individuals reported with retinal degeneration while 2 (who are siblings) also reported cardiomyopathy. The proband (one of the siblings) was given oral taurine supplementation that reversed their phenotype (cardiomyopathy was reversed and the retinal degeneration was halted) (PMID: 31903486). Classified Limited by Aminoacidopathy GCEP on 10/03/2023 - https://search.clinicalgenome.org/CCID:006199 Sources: ClinGen |
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| Aminoacidopathy v1.95 | SLC1A4 |
Sangavi Sivagnanasundram gene: SLC1A4 was added gene: SLC1A4 was added to Aminoacidopathy. Sources: ClinGen Mode of inheritance for gene: SLC1A4 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: SLC1A4 were set to 25930971, 27711071, 29989513, 29652076, 26041762, 27193218, 30125339 Phenotypes for gene: SLC1A4 were set to spastic tetraplegia-thin corpus callosum-progressive postnatal microcephaly syndrome MONDO:0014725 Review for gene: SLC1A4 was set to GREEN Added comment: Reported in at least 9 individuals with reported biochemical abnormalities involving the L-serine transporter. Classified Definitive by Aminoacidopathy GCEP on 14/05/2021 - https://search.clinicalgenome.org/CCID:006155 Sources: ClinGen |
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| Aminoacidopathy v1.66 | SLC1A2 |
Sangavi Sivagnanasundram gene: SLC1A2 was added gene: SLC1A2 was added to Aminoacidopathy. Sources: ClinGen Mode of inheritance for gene: SLC1A2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: SLC1A2 were set to 23934111; 27476654; 28777935; 30937933 Phenotypes for gene: SLC1A2 were set to developmental and epileptic encephalopathy, 41 MONDO:0014916 Review for gene: SLC1A2 was set to GREEN Added comment: Reported variants in 6 unrelated probands. The mechanism of disease is heterozygous dominant negative. Classified as Definitive by ClinGen Aminoacidopathy GCEP on 29/10/2020 https://search.clinicalgenome.org/CCID:006153 Sources: ClinGen |
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| Aminoacidopathy v1.66 | SELENBP1 |
Sangavi Sivagnanasundram gene: SELENBP1 was added gene: SELENBP1 was added to Aminoacidopathy. Sources: ClinGen Mode of inheritance for gene: SELENBP1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: SELENBP1 were set to 29255262 Phenotypes for gene: SELENBP1 were set to extraoral halitosis due to methanethiol oxidase deficiency MONDO:0029144 Review for gene: SELENBP1 was set to GREEN Added comment: 3 unrelated probands in one publication. All reported individuals had a “cabbage-like” breath odour due to the elevated levels of methanethiol and dimethylsulfide in their breath. Knockout mouse model recapitulating the human phenotype including the biochemical characteristics. Classified as Moderate by ClinGen Aminoacidopathy GCEP on 11/11/2022 https://search.clinicalgenome.org/CCID:006103 Sources: ClinGen |
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| Aminoacidopathy v1.66 | MPST |
Sangavi Sivagnanasundram gene: MPST was added gene: MPST was added to Aminoacidopathy. Sources: ClinGen Mode of inheritance for gene: MPST was set to Unknown Phenotypes for gene: MPST were set to encephalopathy due to beta-mercaptolactate-cysteine disulfiduria MONDO:0009585 Review for gene: MPST was set to RED Added comment: No reported individuals with deficiency in MPST enzymatic activity. No known disease relationship classification given by ClinGen Aminoacidopathy GCEP on 28/04/2023 - https://search.clinicalgenome.org/CCID:005413 Sources: ClinGen |
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| Aminoacidopathy v1.59 | 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 v1.47 | HAL |
Sangavi Sivagnanasundram gene: HAL was added gene: HAL was added to Aminoacidopathy. Sources: ClinGen Mode of inheritance for gene: HAL was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: HAL were set to 15806399 Phenotypes for gene: HAL were set to histidinemia MONDO:0009345 Review for gene: HAL was set to RED Added comment: Classified Limited by ClinGen Aminoacidopathy GCEP on 17/11/2023 - https://search.clinicalgenome.org/CCID:005031 Metabolic disorder appears to be benign in most reported affected individuals. Sources: ClinGen |
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| Aminoacidopathy v1.47 | GLDC |
Sangavi Sivagnanasundram gene: GLDC was added gene: GLDC was added to Aminoacidopathy. Sources: ClinGen Mode of inheritance for gene: GLDC was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: GLDC were set to 25736695; 27362913; 26179960; 24407464 Phenotypes for gene: GLDC were set to glycine encephalopathy MONDO:0011612 Review for gene: GLDC was set to GREEN Added comment: Classified Definitive by ClinGen Aminoacidopathy GCEP on 06/02/2019 - https://search.clinicalgenome.org/CCID:004962 Well reported gene-disease association with reported individuals present with glycine encephalopathy. Sources: ClinGen |
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| Aminoacidopathy v1.47 | GCSH |
Sangavi Sivagnanasundram gene: GCSH was added gene: GCSH was added to Aminoacidopathy. Sources: ClinGen Mode of inheritance for gene: GCSH was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: GCSH were set to 33890291; 36190515; 33569080 Phenotypes for gene: GCSH were set to glycine encephalopathy MONDO:0011612 Review for gene: GCSH was set to GREEN Added comment: Classified Strong by ClinGen Aminoacidopathy GCEP on 10/02/2023 - https://search.clinicalgenome.org/CCID:004937 Reported in 7 individuals with abnormal biochemical metabolism. Sources: ClinGen |
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| Aminoacidopathy v1.47 | 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 v1.18 | GAD1 |
Sangavi Sivagnanasundram gene: GAD1 was added gene: GAD1 was added to Aminoacidopathy. Sources: ClinGen Mode of inheritance for gene: GAD1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: GAD1 were set to 28454995; 31144778; 32282878; 15571623; 32705143; 9177246; 9326630; 20333300 Phenotypes for gene: GAD1 were set to obsolete early infantile epileptic encephalopathy MONDO:0016021 Review for gene: GAD1 was set to GREEN Added comment: Classified Definitive by ClinGen Aminoacidopathy GCEP on 13/05/2021 - https://search.clinicalgenome.org/CCID:004907 Established gene-disease association with multiple reported individuals having a metabolic abnormality. Mouse models were performed that recaptulated the human phenotype. Sources: ClinGen |
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| Aminoacidopathy v1.18 | CA5A |
Sangavi Sivagnanasundram gene: CA5A was added gene: CA5A was added to Aminoacidopathy. Sources: ClinGen Mode of inheritance for gene: CA5A was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: CA5A were set to 24530203, 26913920, 23589845 Phenotypes for gene: CA5A were set to hyperammonemic encephalopathy due to carbonic anhydrase VA deficiency MONDO:0014332 Review for gene: CA5A was set to GREEN Added comment: Classified Definitive by ClinGen Aminoacidopathy GCEP on 10/09/2018 - https://search.clinicalgenome.org/CCID:004309 Reported in >10 probands with biochemical abnormalities (inborn error of metabolism) Sources: ClinGen |
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| Aminoacidopathy v1.9 | ASNS |
Sangavi Sivagnanasundram gene: ASNS was added gene: ASNS was added to Aminoacidopathy. Sources: ClinGen Mode of inheritance for gene: ASNS was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: ASNS were set to 29375865, 25663424, 25227173, 29405484, 28776279, 30315573 Phenotypes for gene: ASNS were set to congenital microcephaly - severe encephalopathy - progressive cerebral atrophy syndrome MONDO:0014258 Review for gene: ASNS was set to GREEN Added comment: Classified Definitive by ClinGen Aminoacidopathy GCEP on 29/06/2020 - https://search.clinicalgenome.org/CCID:004187 Well established gene-disease association. Individuals have been reported with an inborn error of asparagine synthetase metabolism. Sources: ClinGen |
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| Aminoacidopathy v1.9 | AMT |
Sangavi Sivagnanasundram gene: AMT was added gene: AMT was added to Aminoacidopathy. Sources: ClinGen Mode of inheritance for gene: AMT was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: AMT were set to 27362913, 8005589, 25231368, 26179960, 26371980, 27164344, 6863283, 18941301 Phenotypes for gene: AMT were set to glycine encephalopathy MONDO:0011612 Added comment: Classified Definitive by ClinGen Aminoacidopathy GCEP on 24/05/2019 - https://search.clinicalgenome.org/CCID:004120 Established gene-disease association with around 15-20% of the reported individuals having glycine encephalopathy (inborn error of glycine metabolism). LoF is the mechanism of disease that has been supported by biochemical functional assays (PMID: 6863283, 18941301) Sources: ClinGen |
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| Aminoacidopathy v0.0 | SERAC1 |
Bryony Thompson gene: SERAC1 was added gene: SERAC1 was added to Disorders of branched chain amino acid metabolism. Sources: Literature Mode of inheritance for gene: SERAC1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: SERAC1 were set to 29152456 Phenotypes for gene: SERAC1 were set to 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome MONDO:0013875 |
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