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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 |
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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 |