Deafness_IsolatedAndComplex
Gene: POLD1
Established gene-disease association for mono-allelic variants with syndromic condition MIM#615381, which has deafness as a feature. Recent report of 5 individuals from a single family segregating bi-allelic variants in this gene and non-syndromic deafness. Please note association with non-syndromic deafness does not currently meet evidence threshold for Green rating.
Sources: LiteratureCreated: 20 Apr 2020, 2:15 a.m.
Mode of inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes
Mandibular hypoplasia, deafness, progeroid features, and lipodystrophy syndrome, MIM#615381; Non-syndromic deafness
Gene: pold1 has been classified as Green List (High Evidence).
Mode of inheritance for gene: POLD1 was changed from BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Gene: pold1 has been classified as Green List (High Evidence).
gene: POLD1 was added gene: POLD1 was added to Deafness. Sources: Literature Mode of inheritance for gene: POLD1 was set to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal Phenotypes for gene: POLD1 were set to Mandibular hypoplasia, deafness, progeroid features, and lipodystrophy syndrome, MIM#615381; Non-syndromic deafness Review for gene: POLD1 was set to GREEN