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| Repeat Disorders v0.123 | GDPAG | Zornitza Stark Tag paediatric-onset tag was added to STR: GDPAG. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Repeat Disorders v0.106 | GDPAG | Bryony Thompson Marked STR: GDPAG as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Repeat Disorders v0.106 | GDPAG | Bryony Thompson Str: gdpag has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Repeat Disorders v0.106 | GDPAG | Bryony Thompson Classified STR: GDPAG as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Repeat Disorders v0.106 | GDPAG | Bryony Thompson Str: gdpag has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Repeat Disorders v0.105 | GDPAG |
Bryony Thompson STR: GDPAG was added STR: GDPAG was added to Repeat 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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