Fetal anomalies
Gene: GNPAT

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

1 review

Rebecca Foulger (Genomics England curator)

Green List (high evidence)

This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.
Created: 24 Mar 2019, 4:30 p.m.

DDG2P rating in original PAGE list: Confirmed for RHIZOMELIC CHONDRODYSPLASIA PUNCTATA TYPE 2
Created: 11 Dec 2018, 9:05 a.m.

Created: 11 Dec 2018, 9:05 a.m.

Panel version: 0.134

Details

Mode of Inheritance

BIALLELIC, autosomal or pseudoautosomal

Sources

PAGE DD-Gene2Phenotype
Expert Review Green

Phenotypes

RHIZOMELIC CHONDRODYSPLASIA PUNCTATA TYPE 2

OMIM

602744

Clinvar variants

Variants in GNPAT

Penetrance

None

Panels with this gene

History Filter Activity

8 Nov 2018, Gel status: 4

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

Rebecca Foulger (Genomics England curator)

gene: GNPAT was added gene: GNPAT was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype Mode of inheritance for gene: GNPAT was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: GNPAT were set to RHIZOMELIC CHONDRODYSPLASIA PUNCTATA TYPE 2

Fetal anomalies Gene: GNPAT