| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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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 v1.6 | Bryony Thompson removed STR:GLS from the panel | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Miscellaneous Metabolic Disorders v0.169 | GLS | Bryony Thompson Marked STR: GLS as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Miscellaneous Metabolic Disorders v0.169 | GLS | Bryony Thompson Str: gls has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Miscellaneous Metabolic Disorders v0.169 | GLS | Bryony Thompson Classified STR: GLS as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Miscellaneous Metabolic Disorders v0.169 | GLS | Bryony Thompson Str: gls has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| 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 v0.167 | GLS | Bryony Thompson Marked gene: GLS as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Miscellaneous Metabolic Disorders v0.167 | GLS | Bryony Thompson Gene: gls has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Miscellaneous Metabolic Disorders v0.167 | GLS | Bryony Thompson Classified gene: GLS as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Miscellaneous Metabolic Disorders v0.167 | GLS | Bryony Thompson Gene: gls has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Miscellaneous Metabolic Disorders v0.166 | GLS | Bryony Thompson Publications for gene: GLS were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Miscellaneous Metabolic Disorders v0.164 | GLS |
Bryony Thompson gene: GLS was added gene: GLS was added to Miscellaneous Metabolic Disorders. Sources: NHS GMS Mode of inheritance for gene: GLS was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: GLS were set to Developmental and epileptic encephalopathy 71 MIM#618328; Global developmental delay, progressive ataxia, and elevated glutamine MIM#618412; disorder of amino acid metabolism |
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