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Mendeliome

STR: OPDM_ABCD3_GCC

Green List (high evidence)

Chromosome: 1
GRCh37 Position: 94883977-94883998
GRCh38 Position: 94418421-94418442
Repeated Sequence: GCC
Normal Number of Repeats: < or = 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 5 panels

1 review

Bryony Thompson (Royal Melbourne Hospital)

Green List (high evidence)

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
Created: 1 Aug 2024, 4:24 a.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Oculopharyngodistal myopathy MONDO:0025193

Publications

Clinically Relevant

Interruptions 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: < or =
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

1 Aug 2024, Gel status: 3

Entity classified by Genomics England curator

Bryony Thompson (Royal Melbourne Hospital)

Str: opdm_abcd3_gcc has been classified as Green List (High Evidence).

1 Aug 2024, Gel status: 3

Entity classified by Genomics England curator

Bryony Thompson (Royal Melbourne Hospital)

Str: opdm_abcd3_gcc has been classified as Green List (High Evidence).

1 Aug 2024, Gel status: 1

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 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