Insulin resistance (including lipodystrophy)
Gene: POC1A
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Comment when marking as ready: Associated with phenotype in OMIM and in G2P. At least three variants reported. One report of insulin resistance associated with this phenotype (PMID 26336158), metabolic analysis of previous and subsequent reports of Short stature, onychodysplasia, facial dysmorphism, and hypotrichosis 614813, may provide further evidence for the role of POC1A in insulin resistance.Created: 12 Aug 2016, 6:28 a.m.
Comment on phenotypes: Short stature, onychodysplasia, facial dysmorphism, and hypotrichosis 614813Created: 12 Aug 2016, 6:20 a.m.
Promoted to version 1 12/08/2016
This gene has been classified as Red List (Low Evidence).
This gene has been classified as Red List (Low Evidence).
Phenotypes for POC1A were set to Short stature, onychodysplasia, facial dysmorphism, and hypotrichosis 614813
Phenotypes for POC1A were set to Short stature, Severe Insulin Resistance
Publications for POC1A were set to 26336158
Phenotypes for POC1A were set to Short stature, onychodysplasia, facial dysmorphism, and hypotrichosis 614813
Publications for POC1A were set to 26336158
This gene has been classified as Red List (Low Evidence).
POC1A was added to Insulin resistance (including lipodystrophy) panel. Sources: Literature