Insulin resistance (including lipodystrophy)
Gene: PCYT1A

PCYT1A (phosphate cytidylyltransferase 1, choline, alpha)
EnsemblGeneIds (GRCh38): ENSG00000161217
EnsemblGeneIds (GRCh37): ENSG00000161217
OMIM: 123695, Gene2Phenotype
PCYT1A is in 8 panels

3 reviews

David Savage (IMS MRL, Uni. Cambridge)

Green List (high evidence)

Created: 5 Nov 2017, 2:37 a.m.

Panel version: 0

Robert Semple (University of Cambridge)

Green List (high evidence)

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
GENERALISED LIPODYSTROPHY; SPONDYLOMETAPHYSEAL DYSPLASIA WITH CONE-ROD DYSTROPHY; SMDCRD

Publications

PMID: 24889630

Created: 5 Nov 2017, 2:37 a.m.

Panel version: 0

Sarah Leigh (Genomics England Curator)

Comment on phenotypes: Acanthosis nigricans is not mentioned for this phenotype in OMIM, but it is in the quoted publication
Created: 11 Aug 2016, 2:16 p.m.

Comment when marking as ready: Associated with phenotype in OMIM and G2P. Numerous variants reported
Created: 11 Aug 2016, 2:13 p.m.

Created: 11 Aug 2016, 2:13 p.m.

Panel version: 0.79

Details

Mode of Inheritance

BIALLELIC, autosomal or pseudoautosomal

Sources

Expert Review Green
Radboud University Medical Center, Nijmegen

Phenotypes

Spondylometaphyseal dysplasia with cone-rod dystrophy 608940

OMIM

123695

Clinvar variants

Variants in PCYT1A

Penetrance

Complete

Publications

24889630

Panels with this gene