GMS Musculoskeletal specialist test group Skeletal dysplasia
Gene: GNPAT

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

1 review

Tracy Lester (Genetics laboratory, Oxford UK)

Green List (high evidence)

Gene previously called DHAPAT.Chondrodysplasia punctata gp of SD. Many cases; Review on behalf of Tracy Lester
Created: 6 Mar 2019, 11:52 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
RCDP2; Rhizomelic Chondrodysplasia Punctata; Chondrodysplasia punctata, rhizomelic, type 2, 222765; Rhizomelic chondrodysplasia punctata type 2

Created: 6 Mar 2019, 11:52 a.m.

Panel version: 0.2

Details

Mode of Inheritance

BIALLELIC, autosomal or pseudoautosomal

Sources

Expert Review Green
NHS GMS

Phenotypes

Rhizomelic Chondrodysplasia Punctata
RCDP2
Rhizomelic chondrodysplasia punctata type 2
Chondrodysplasia punctata, rhizomelic, type 2, 222765

OMIM

602744

Clinvar variants

Variants in GNPAT

Penetrance

None

Panels with this gene

History Filter Activity

6 Mar 2019, Gel status: 4

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

Eleanor Williams (Genomics England Curator)

gene: GNPAT was added gene: GNPAT was added to GMS Musculoskeletal specialist test group Skeletal dysplasia. Sources: NHS GMS,Expert Review Green Mode of inheritance for gene: GNPAT was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: GNPAT were set to Rhizomelic Chondrodysplasia Punctata; RCDP2; Rhizomelic chondrodysplasia punctata type 2; Chondrodysplasia punctata, rhizomelic, type 2, 222765

GMS Musculoskeletal specialist test group Skeletal dysplasia Gene: GNPAT