| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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| Mendeliome v1.1898 | OPDM_ABCD3_GCC | Bryony Thompson Marked STR: OPDM_ABCD3_GCC as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v1.1898 | OPDM_ABCD3_GCC | Bryony Thompson Str: opdm_abcd3_gcc has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v1.1898 | OPDM_ABCD3_GCC | Bryony Thompson Classified STR: OPDM_ABCD3_GCC as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v1.1898 | OPDM_ABCD3_GCC | Bryony Thompson Str: opdm_abcd3_gcc has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v1.1897 | OPDM_ABCD3_GCC |
Bryony Thompson STR: OPDM_ABCD3_GCC was added STR: OPDM_ABCD3_GCC was added to Mendeliome. Sources: Literature Mode of inheritance for STR: OPDM_ABCD3_GCC was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for STR: OPDM_ABCD3_GCC were set to 39068203 Phenotypes for STR: OPDM_ABCD3_GCC were set to Oculopharyngodistal myopathy MONDO:0025193 Review for STR: OPDM_ABCD3_GCC was set to GREEN STR: OPDM_ABCD3_GCC was marked as clinically relevant Added comment: 35 OPDM individuals from 8 unrelated families from Australia, the UK, and France with an ABCD3 5’UTR CGG repeat. Affected individuals had repeat expansions ranging from 118-694 (n=19). 7 repeats is the median repeat size in non-neurological controls from the GE 100,000 Genome Project. 10 controls had estimated repeats >50, up to ~93. 50 repeats would be a safe cut-off for normal Sources: Literature |
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