Monogenic diabetes

Gene: PCYT1A

No list

PCYT1A (phosphate cytidylyltransferase 1, choline, alpha)
EnsemblGeneIds (GRCh38): ENSG00000161217
EnsemblGeneIds (GRCh37): ENSG00000161217
OMIM: 123695, Gene2Phenotype
PCYT1A is in 7 panels

1 review

Ivone Leong (Genomics England Curator)

Red List (low evidence)

Gene changed to grey status after consultation with Professor Sian Ellard (South West GLH) that this gene is not appropriate for the panel.
Created: 25 Jan 2019, 11:49 a.m.

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Removed
Phenotypes
  • Spondylometaphyseal dysplasia with cone-rod dystrophy
OMIM
123695
Clinvar variants
Variants in PCYT1A
Penetrance
None
Publications
Panels with this gene

History Filter Activity

30 Jan 2019, Gel status: 0

Panel promoted to version 1.0

Ivone Leong (Genomics England Curator)

Ivone Leong: Gene changed to grey status af

25 Jan 2019, Gel status: 0

Added New Source, Status Update

Ivone Leong (Genomics England Curator)

Source Expert Review Removed was added to PCYT1A. Rating Changed from Green List (high evidence) to No List (delete)

18 Dec 2018, Gel status: 4

Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes

Ellen McDonagh (Genomics England Curator)

gene: PCYT1A was added gene: PCYT1A was added to Monogenic diabetes. Sources: Expert Review Green Mode of inheritance for gene: PCYT1A was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: PCYT1A were set to 24889630 Phenotypes for gene: PCYT1A were set to Spondylometaphyseal dysplasia with cone-rod dystrophy