Insulin resistance (including lipodystrophy)

Gene: PCYT1A

Green List (high evidence)

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)

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

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.

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
Panels with this gene

History Filter Activity

12 Aug 2016, Gel status: 4

panel promoted to version 1

Sarah Leigh (Genomics England Curator)

Promoted to version 1 12/08/2016

11 Aug 2016, Gel status: 4

Set Phenotypes

Sarah Leigh (Genomics England Curator)

Phenotypes for PCYT1A were set to Spondylometaphyseal dysplasia with cone-rod dystrophy 608940

11 Aug 2016, Gel status: 4

Gene classified by Genomics England curator

Sarah Leigh (Genomics England Curator)

This gene has been classified as Green List (High Evidence).

11 Aug 2016, Gel status: 4

Set Phenotypes

Sarah Leigh (Genomics England Curator)

Phenotypes for PCYT1A were set to Spondylometaphyseal dysplasia with cone-rod dystrophy 608940

11 Aug 2016, Gel status: 4

Set publications

Sarah Leigh (Genomics England Curator)

Publications for PCYT1A were set to 24889630

11 Aug 2016, Gel status: 4

Gene classified by Genomics England curator

Sarah Leigh (Genomics England Curator)

This gene has been classified as Green List (High Evidence).

11 Aug 2016, Gel status: 0

Upload gene information

Sarah Leigh (Genomics England Curator)

PCYT1A was added to Insulin resistance (including lipodystrophy)panel. Sources: Radboud University Medical Center, Nijmegen

12 Oct 2015, Gel status: 0

Added New Source

Robert Semple (University of Cambridge)

PCYT1A was added to Insulin resistance (including lipodystrophy) panel. Sources: Literature