Diabetes with additional phenotypes suggestive of a monogenic aetiology
Gene: POLD1Comment on list classification: Promoted to green due to expert review - Sian Ellard (University of Exeter Medical School).Created: 23 Aug 2016, 11:55 a.m.
Comment on mode of pathogenicity: Mutation-specific effect - Sian Ellard (University of Exeter Medical School), Oct. 16, 2015, 10:27 a.m. Comments on the Familial Diabetes panel 0.Created: 23 Aug 2016, 11:55 a.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
multisystem disorder that includes subcutaneous lipodystrophy, deafness, mandibular hypoplasia and hypogonadism in males; Mandibular hypoplasia, deafness, progeroid features, and lipodystrophy syndrome
Publications
Mode of pathogenicity
Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments
Variants in this gene are reported as part of current diagnostic practiceCreated: 16 Oct 2015, 9:28 a.m.
Mutation-specific effectCreated: 16 Oct 2015, 9:27 a.m.
Phenotypes for gene: POLD1 were changed from multisystem disorder that includes subcutaneous lipodystrophy, deafness, mandibular hypoplasia and hypogonadism in males; Mandibular hypoplasia, deafness, progeroid features, and lipodystrophy syndrome to Mandibular hypoplasia, deafness, progeroid features, and lipodystrophy syndrome, OMIM:615381
This gene has been classified as Green List (High Evidence).
This gene has been classified as Green List (High Evidence).
Mode of pathogenicity for POLD1 was changed to Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments
POLD1 was added to Diabetes with additional phenotypes suggestive of a monogenic aetiologypanel. Sources: Expert Review
POLD1 was created by ellenmcdonagh