Genomics England
GMS Panels
Panels
Genes and Entities

GNPAT

glyceronephosphate O-acyltransferase
OMIM: 602744
PanelMode of inheritanceDetails
6 panels
Green
in Bilateral congenital or childhood onset cataracts
R-numbers: R31
Signed-off version 4.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Confirmed DD gene for Rhizomelic Chondrodysplasia Punctata type 2, rhizomelic chondrodysplasia punctata type 2 (RCDP2)
Green
in DDG2P
Component of the following Super Panels:
  • - Paediatric disorders
Signed-off version 3.79
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
RHIZOMELIC CHONDRODYSPLASIA PUNCTATA TYPE 2 222765
Green
in Fetal anomalies
R-numbers: R21, R412
Signed-off version 3.122
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
RHIZOMELIC CHONDRODYSPLASIA PUNCTATA TYPE 2
Green
in Intellectual disability
Component of the following Super Panels:
  • - Childhood onset leukodystrophy
  • - Hypotonic infant
  • - Paediatric disorders
R-numbers: R29
Signed-off version 5.343
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Chondrodysplasia punctata, rhizomelic, type 2, 222765, RHIZOMELIC CHONDRODYSPLASIA PUNCTATA TYPE 2 (RCDP2)
Green
in Likely inborn error of metabolism - targeted testing not possible
Component of the following Super Panels:
  • - Childhood onset leukodystrophy
  • - Hypotonic infant
  • - Paediatric disorders
  • - Unexplained death in infancy and sudden unexplained death in childhood
R-numbers: R98
Signed-off version 4.78
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Rhizomelic chondrodysplasia punctata type 2 (Peroxisomal disorders), Rhizomelic chondrodysplasia punctata, type 2 222765
Green
in Skeletal dysplasia
Component of the following Super Panels:
  • - Paediatric disorders
R-numbers: R104
Signed-off version 4.31
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Rhizomelic Chondrodysplasia Punctata, RCDP2, Rhizomelic chondrodysplasia punctata type 2, Chondrodysplasia punctata, rhizomelic, type 2, 222765