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| Miscellaneous Metabolic Disorders v1.7 | GDPAG |
Bryony Thompson STR: GDPAG was added STR: GDPAG was added to Miscellaneous Metabolic Disorders. Sources: Literature Mode of inheritance for STR: GDPAG was set to BIALLELIC, autosomal or pseudoautosomal Publications for STR: GDPAG were set to 30970188 Phenotypes for STR: GDPAG were set to Global developmental delay, progressive ataxia, and elevated glutamine MIM#618412 Review for STR: GDPAG was set to GREEN STR: GDPAG was marked as clinically relevant Added comment: NM_014905.5(GLS):c.-212_-210GCA[X] 3 unrelated cases with glutaminase deficiency were compound heterozygous (2) or homozygous for expansion of the repeat, 680-900 repeats in blood samples and 400-110 repeats in fibroblasts. In an analysis of 8295 genomes the median size of the repeat was 14 repeats (8-16 repeats range). There was 1 heterozygous allele with 90 repeats. Functional assays suggest the predominant effect of the repeats is at the level of histone modifications. Epigenetic gene silencing is the mechanism of disease of the repeat. Other variant types are also reported with disease. Sources: Literature |
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| Miscellaneous Metabolic Disorders v0.174 | GNMT |
Bryony Thompson gene: GNMT was added gene: GNMT was added to Miscellaneous Metabolic Disorders. Sources: NHS GMS Mode of inheritance for gene: GNMT was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: GNMT were set to 11810299; 14739680; 17937387; 27207470 Phenotypes for gene: GNMT were set to Glycine N-methyltransferase deficiency MIM#606664; Disorders of the metabolism of sulphur amino acids Review for gene: GNMT was set to GREEN Added comment: Only 5 cases in 4 families reported thus far, and a supporting null mouse model. The clinical presentation of the reported cases (mild hepatomegaly and chronic elevation of the transaminase levels in the blood without liver disease) suggests a benign disorder, however hypermethioninemia is a reported risk factor for various neurological complications regardless of the cause. Sources: NHS GMS |
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| Miscellaneous Metabolic Disorders v0.168 | GLS |
Bryony Thompson STR: GLS was added STR: GLS was added to Miscellaneous Metabolic Disorders. Sources: Literature Mode of inheritance for STR: GLS was set to BIALLELIC, autosomal or pseudoautosomal Publications for STR: GLS were set to 30970188 Phenotypes for STR: GLS were set to Global developmental delay, progressive ataxia, and elevated glutamine MIM#618412 Review for STR: GLS was set to GREEN Added comment: NM_014905.5(GLS):c.-212_-210GCA[X] 3 unrelated cases with glutaminase deficiency were compound heterozygous (2) or homozygous for expansion of the repeat, 680-900 repeats in blood samples and 400-110 repeats in fibroblasts. In an analysis of 8295 genomes the median size of the repeat was 14 repeats (8-16 repeats range). There was 1 heterozygous allele with 90 repeats. Functional assays suggest the predominant effect of the repeats is at the level of histone modifications. Sources: Literature |
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| Miscellaneous Metabolic Disorders v0.104 | STS | Zornitza Stark Marked gene: STS as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Miscellaneous Metabolic Disorders v0.104 | STS | Zornitza Stark Gene: sts has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Miscellaneous Metabolic Disorders v0.104 | STS | Zornitza Stark Classified gene: STS as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Miscellaneous Metabolic Disorders v0.104 | STS | Zornitza Stark Gene: sts has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Miscellaneous Metabolic Disorders v0.103 | STS | Zornitza Stark Tag SV/CNV tag was added to gene: STS. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Miscellaneous Metabolic Disorders v0.103 | STS |
Zornitza Stark gene: STS was added gene: STS was added to Miscellaneous Metabolic Disorders. Sources: Expert list Mode of inheritance for gene: STS was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Phenotypes for gene: STS were set to Ichthyosis, X-linked 308100; Sterol metabolism disorder Review for gene: STS was set to GREEN Added comment: Well established gene-disease association. CNVs common. Sources: Expert list |
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| Miscellaneous Metabolic Disorders v0.4 | ABCD4 |
Bryony Thompson gene: ABCD4 was added gene: ABCD4 was added to Miscellaneous Metabolic Disorders. Sources: NHS GMS Mode of inheritance for gene: ABCD4 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: ABCD4 were set to 22922874; 31113616; 30651581; 28572511 Phenotypes for gene: ABCD4 were set to Methylmalonic aciduria and homocystinuria, cblJ type MIM#614857 Review for gene: ABCD4 was set to GREEN Added comment: Inborn error of vitamin B12 metabolism - >3 unrelated cases and a supporting mouse model PMID: 22922874 - 2 unrelated cases with biallelic variants. Expression of wildtype ABCD4 in patient fibroblasts led to rescue of the biochemical phenotype. PMID: 30651581 - a Chinese case with a homozygous variant c.423C>G (p.Asn141Lys) PMID: 28572511 - 1 compound het case with supporting functional assays PMID: 31113616 - abcd4 null zebrafish model leads to vitamin B 12-deficiency anemia Sources: NHS GMS |
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