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| Repeat Disorders v1.12 | FAM193B_OPDM_CGG | Bryony Thompson Marked STR: FAM193B_OPDM_CGG as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Repeat Disorders v1.12 | FAM193B_OPDM_CGG | Bryony Thompson Str: fam193b_opdm_cgg has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Repeat Disorders v1.12 | FAM193B_OPDM_CGG |
Bryony Thompson STR: FAM193B_OPDM_CGG was added STR: FAM193B_OPDM_CGG was added to Repeat Disorders. Sources: Literature Mode of inheritance for STR: FAM193B_OPDM_CGG was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for STR: FAM193B_OPDM_CGG were set to 38297326; 40357124; 10.1101/2025.01.06.631535; 38585781 Phenotypes for STR: FAM193B_OPDM_CGG were set to Oculopharyngodistal myopathy, FAM193B-related (candidate) MONDO:0025193 Review for STR: FAM193B_OPDM_CGG was set to RED Added comment: A single Undiagnosed Diseases Network family reported in PMID 38297326, 38585781 and doi 10.1101/2025.01.06.631535. 2 affected sisters had heterozygous 5'UTR CGG expansions of 198 and 194 repeats, inherited from their unaffected mother with 158 repeats. The unaffected father had 16 repeats. No normal range is defined. Discovery cohort alleles were <~30 repeats. No pathogenic threshold is defined. 194 repeats was the lowest number of repeats in an affected individual. The sisters presented at 49 and 51 years. Blood FAM193B overexpression without promoter hypermethylation is the only functional evidence. A screen of ~50 OPDM long-read genomes found no second family. Further probands/families are required to confirm the gene-disease association. Sources: Literature |
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