Limb-Girdle Muscular Dystrophy and Distal Myopathy
STR: OPDM_ABCD3_GCCGRCh37 Position: 94883977-94883998
GRCh38 Position: 94418421-94418442
Repeated Sequence: GCC
Normal Number of Repeats: < 50
Pathogenic Number of Repeats: = or > 118
ABCD3 (ATP binding cassette subfamily D member 3)
EnsemblGeneIds (GRCh38): ENSG00000117528
EnsemblGeneIds (GRCh37): ENSG00000117528
OMIM: 170995, Gene2Phenotype
ABCD3 is in 0 panels
1 review
Bryony Thompson (Royal Melbourne Hospital)
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
Details
- Name
- OPDM_ABCD3_GCC
- Chromosome
- 1
- GRCh37 Coordinates
- 94883977-94883998
- GRCh38 Coordinates
- 94418421-94418442
- Repeated Sequence
- GCC
- Normal Number of Repeats: <
- 50
- Pathogenic Number of Repeats: = or >
- 118
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
- Sources
-
- Expert Review Green
- Literature
- Phenotypes
-
- Oculopharyngodistal myopathy MONDO:0025193
- OMIM
- 170995
- Clinvar variants
- Variants in ABCD3
- Penetrance
- None
- Publications
History Filter Activity
Entity classified by Genomics England curator
Bryony Thompson (Royal Melbourne Hospital)Str: opdm_abcd3_gcc has been classified as Green List (High Evidence).
Entity classified by Genomics England curator
Bryony Thompson (Royal Melbourne Hospital)Str: opdm_abcd3_gcc has been classified as Green List (High Evidence).
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes
Bryony Thompson (Royal Melbourne Hospital)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