Peroxisomal disorders

Gene: GNPAT

Green List (high evidence)

GNPAT (glyceronephosphate O-acyltransferase)
EnsemblGeneIds (GRCh38): ENSG00000116906
EnsemblGeneIds (GRCh37): ENSG00000116906
OMIM: 602744, Gene2Phenotype
GNPAT is in 10 panels

1 review

Sarah Leigh (Genomics England Curator)

Comment when marking as ready: Associated with phenotype in OMIM and G2P. Numerous variants reported
Created: 22 Aug 2016, 10:16 a.m.

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Radboud University Medical Center, Nijmegen
  • Emory Genetics Laboratory
  • Illumina TruGenome Clinical Sequencing Services
  • UKGTN
Phenotypes
  • Rhizomelic chondrodysplasia punctata, type 2 222765
OMIM
602744
Clinvar variants
Variants in GNPAT
Penetrance
Complete
Panels with this gene

History Filter Activity

3 Oct 2016, Gel status: 4

panel promoted to version 1

Sarah Leigh (Genomics England Curator)

Promoted to V1 3rd October 2016

22 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).

22 Aug 2016, Gel status: 4

Set Phenotypes

Sarah Leigh (Genomics England Curator)

Phenotypes for GNPAT were set to Rhizomelic chondrodysplasia punctata, type 2 222765

22 Aug 2016, Gel status: 4

Upload gene information

Sarah Leigh (Genomics England Curator)

GNPAT was added to Peroxisomal disorderspanel. Sources: Radboud University Medical Center, Nijmegen,Emory Genetics Laboratory

19 Aug 2016, Gel status: 0

Created

Sarah Leigh (Genomics England Curator)

GNPAT was created by sleigh

19 Aug 2016, Gel status: 2

Added New Source

Sarah Leigh (Genomics England Curator)

GNPAT was added to Peroxisomal disorderspanel. Sources: Illumina TruGenome Clinical Sequencing Services,UKGTN