GNPAT

glyceronephosphate O-acyltransferase
OMIM: 602744
PanelMode of inheritanceDetails
6 panels
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 4.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
RHIZOMELIC CHONDRODYSPLASIA PUNCTATA TYPE 2 222765
R-numbers: R21, R412
Signed-off version 4.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
RHIZOMELIC CHONDRODYSPLASIA PUNCTATA TYPE 2
Component of the following Super Panels:
  • - Childhood onset leukodystrophy
  • - Hypotonic infant
  • - Paediatric disorders
R-numbers: R29
Signed-off version 6.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Chondrodysplasia punctata, rhizomelic, type 2, 222765, RHIZOMELIC CHONDRODYSPLASIA PUNCTATA TYPE 2 (RCDP2)
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 5.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Rhizomelic chondrodysplasia punctata type 2 (Peroxisomal disorders), Rhizomelic chondrodysplasia punctata, type 2 222765
Component of the following Super Panels:
  • - Paediatric disorders
R-numbers: R104
Signed-off version 5.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Rhizomelic Chondrodysplasia Punctata, RCDP2, Rhizomelic chondrodysplasia punctata type 2, Chondrodysplasia punctata, rhizomelic, type 2, 222765