Insulin resistance (including lipodystrophy)

Gene: POC1A

Red List (low evidence)

POC1A (POC1 centriolar protein A)
EnsemblGeneIds (GRCh38): ENSG00000164087
EnsemblGeneIds (GRCh37): ENSG00000164087
OMIM: 614783, Gene2Phenotype
POC1A is in 9 panels

2 reviews

Robert Semple (University of Cambridge)

Red List (low evidence)

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Sarah Leigh (Genomics England Curator)

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 614813
Created: 12 Aug 2016, 6:20 a.m.

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
Phenotypes
  • Short stature, onychodysplasia, facial dysmorphism, and hypotrichosis 614813
OMIM
614783
Clinvar variants
Variants in POC1A
Penetrance
Complete
Publications
Panels with this gene

History Filter Activity

12 Aug 2016, Gel status: 1

panel promoted to version 1

Sarah Leigh (Genomics England Curator)

Promoted to version 1 12/08/2016

12 Aug 2016, Gel status: 1

Gene classified by Genomics England curator

Sarah Leigh (Genomics England Curator)

This gene has been classified as Red List (Low Evidence).

12 Aug 2016, Gel status: 1

Gene classified by Genomics England curator

Sarah Leigh (Genomics England Curator)

This gene has been classified as Red List (Low Evidence).

12 Aug 2016, Gel status: 1

Set Phenotypes

Sarah Leigh (Genomics England Curator)

Phenotypes for POC1A were set to Short stature, onychodysplasia, facial dysmorphism, and hypotrichosis 614813

12 Aug 2016, Gel status: 1

Set Phenotypes

Sarah Leigh (Genomics England Curator)

Phenotypes for POC1A were set to Short stature, Severe Insulin Resistance

12 Aug 2016, Gel status: 1

Set publications

Sarah Leigh (Genomics England Curator)

Publications for POC1A were set to 26336158

12 Aug 2016, Gel status: 1

Set Phenotypes

Sarah Leigh (Genomics England Curator)

Phenotypes for POC1A were set to Short stature, onychodysplasia, facial dysmorphism, and hypotrichosis 614813

12 Aug 2016, Gel status: 1

Set publications

Sarah Leigh (Genomics England Curator)

Publications for POC1A were set to 26336158

12 Aug 2016, Gel status: 1

Gene classified by Genomics England curator

Sarah Leigh (Genomics England Curator)

This gene has been classified as Red List (Low Evidence).

12 Oct 2015, Gel status: 0

Added New Source

Robert Semple (University of Cambridge)

POC1A was added to Insulin resistance (including lipodystrophy) panel. Sources: Literature