Limb-Girdle Muscular Dystrophy and Distal Myopathy
STR: OPDM_ABCD3_GCC
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: LiteratureCreated: 1 Aug 2024, 4:34 a.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Oculopharyngodistal myopathy MONDO:0025193
Publications
Clinically RelevantInterruptions in the repeated sequence are reported as part of standard diagnostic practise
Str: opdm_abcd3_gcc has been classified as Green List (High Evidence).
Str: opdm_abcd3_gcc has been classified as Green List (High Evidence).
STR: OPDM_ABCD3_GCC was added STR: OPDM_ABCD3_GCC was added to Limb-Girdle Muscular Dystrophy and Distal Myopathy. 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