Distal myopathies

Gene: GIPC1

No list

GIPC1 (GIPC PDZ domain containing family member 1)
EnsemblGeneIds (GRCh38): ENSG00000123159
EnsemblGeneIds (GRCh37): ENSG00000123159
OMIM: 605072, Gene2Phenotype
GIPC1 is in 1 panel

1 review

Zornitza Stark (Australian Genomics)

Green List (high evidence)

19 families reported with heterozygous trinucleotide repeat expansion in the 5-prime untranslated region and onset of distal muscle weakness, mainly of the lower limbs, and/or ophthalmoplegia in the second or third decades of life. Note this is unlikely to be tractable currently by most NGS assays, and may be best dealt with as an STR disorder here.
Sources: Literature
Created: 17 Jul 2020, midnight

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Oculopharyngodistal myopathy-2 (OPDM2), MIM#618940

Publications

Mode of pathogenicity
Other

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
Phenotypes
  • Oculopharyngodistal myopathy-2 (OPDM2), MIM#618940
OMIM
605072
Clinvar variants
Variants in GIPC1
Penetrance
None
Publications
Mode of Pathogenicity
Other
Panels with this gene

History Filter Activity

17 Jul 2020, Gel status: 0

Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes, Set mode of pathogenicity

Zornitza Stark (Australian Genomics)

gene: GIPC1 was added gene: GIPC1 was added to Distal myopathies. Sources: Literature Mode of inheritance for gene: GIPC1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: GIPC1 were set to 32413282 Phenotypes for gene: GIPC1 were set to Oculopharyngodistal myopathy-2 (OPDM2), MIM#618940 Mode of pathogenicity for gene: GIPC1 was set to Other Review for gene: GIPC1 was set to GREEN