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Distal myopathies v1.20 GIPC1 Zornitza Stark 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
Added comment: 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
Distal myopathies DES Arianna Tucci marked DES as ready
Distal myopathies DES Arianna Tucci classified DES as green
Distal myopathies DES Arianna Tucci reviewed DES