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| Repeat Disorders v1.11 | TBC1D7_OPDM_CGG | Bryony Thompson Marked STR: TBC1D7_OPDM_CGG as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Repeat Disorders v1.11 | TBC1D7_OPDM_CGG | Bryony Thompson Str: tbc1d7_opdm_cgg has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Repeat Disorders v1.11 | TBC1D7_OPDM_CGG | Bryony Thompson Classified STR: TBC1D7_OPDM_CGG as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Repeat Disorders v1.11 | TBC1D7_OPDM_CGG | Bryony Thompson Str: tbc1d7_opdm_cgg has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Repeat Disorders v1.10 | TBC1D7_OPDM_CGG | Bryony Thompson edited their review of STR: TBC1D7_OPDM_CGG: Changed rating: AMBER | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Repeat Disorders v1.10 | TBC1D7_OPDM_CGG | Bryony Thompson Classified STR: TBC1D7_OPDM_CGG as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Repeat Disorders v1.10 | TBC1D7_OPDM_CGG | Bryony Thompson Str: tbc1d7_opdm_cgg has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Repeat Disorders v1.9 | TBC1D7_OPDM_CGG |
Bryony Thompson STR: TBC1D7_OPDM_CGG was added STR: TBC1D7_OPDM_CGG was added to Repeat Disorders. Sources: Literature Mode of inheritance for STR: TBC1D7_OPDM_CGG was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for STR: TBC1D7_OPDM_CGG were set to 41959811 Phenotypes for STR: TBC1D7_OPDM_CGG were set to Oculopharyngodistal myopathy, TBC1D7-related MONDO:0025193 Review for STR: TBC1D7_OPDM_CGG was set to GREEN Added comment: Preprint PMID 41959811 reports 3 families with a heterozygous 5'UTR CCG expansion in TBC1D7 and oculopharyngodistal myopathy. Affected individuals had 83, 87, 113, 137 and 148 repeats (n=5). All 3 families share a core 16 kb haplotype, consistent with a common ancestral origin. An unaffected transmitting father carries the largest allele, 184 repeats, hypermethylated. Gain of function is the proposed mechanism of disease. Patient-derived fibroblasts show increased TBC1D7 expression, and muscle biopsy shows p62-positive intranuclear inclusions, supporting a dominant toxic gain-of-function mechanism analogous to other CCG-expansion disorders. No normal range is defined. 79/70,752 GE control alleles had >50 repeats. The reference and 94.3% of 1,718 control alleles carry an interrupted CCGCTG structure, while patient alleles are long pure CCG. Sources: Literature |
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