Insulin resistance (including lipodystrophy)
Gene: POLD1
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
MANDIBULAR HYPOPLASIA, DEAFNESS, PROGEROID FEATURES, AND LIPODYSTROPHY SYNDROME
Publications
Variants in this GENE are reported as part of current diagnostic practice
Comment on mode of inheritance: At least two de novo occurrences reportedCreated: 12 Aug 2016, 4:11 p.m.
Comment when marking as ready: Associated with phenotype in OMIM and G2P. Four reports of an in-frame deletion (c.1812_1814del, p.S605del), in unrelated patients (de novo occurrence proven for two of these), in vitro studies strongly support role in this phenotype (PMID 23770608). Eight further reports of this deletion, two with diabetes (PMID 26172944)Created: 12 Aug 2016, 4:09 p.m.
Comment on phenotypes: Mandibular hypoplasia, deafness, progeroid features, and lipodystrophy syndrome 615381 does not strictly fit this panel as it is not associated with Acanthosis nigricans. Variants also reported in {Colorectal cancer, susceptibility to, 10}, 612591Created: 12 Aug 2016, 3:58 p.m.
Promoted to version 1 12/08/2016
Mode of inheritance for POLD1 was changed to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
This gene has been classified as Green List (High Evidence).
Publications for POLD1 were set to 23770608; 26172944; 25131834
Phenotypes for POLD1 were set to Mandibular hypoplasia, deafness, progeroid features, and lipodystrophy syndrome, 615381
Publications for POLD1 were set to 20631028; 23770608; 26172944
Mode of inheritance for POLD1 was changed to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
This gene has been classified as Green List (High Evidence).
POLD1 was added to Insulin resistance (including lipodystrophy) panel. Sources: Radboud University Medical Center, Nijmegen