GNPAT

glyceronephosphate O-acyltransferase
OMIM: 602744
PanelMode of inheritanceDetails
6 panels
Green
in Cataracts
R-numbers: R31
Signed-off version 2.76
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 2.2
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
RHIZOMELIC CHONDRODYSPLASIA PUNCTATA TYPE 2 222765
R-numbers: R21
Signed-off version 1.92
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
RHIZOMELIC CHONDRODYSPLASIA PUNCTATA TYPE 2
Component of the following Super Panels:
  • - Hypotonic infant
  • - Paediatric disorders
  • - White matter disorders - childhood onset
R-numbers: R98
Signed-off version 2.3
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Rhizomelic chondrodysplasia punctata type 2 (Peroxisomal disorders), Rhizomelic chondrodysplasia punctata, type 2 222765
Component of the following Super Panels:
  • - Hypotonic infant
  • - Paediatric disorders
  • - White matter disorders - childhood onset
R-numbers: R29
Signed-off version 3.2
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Chondrodysplasia punctata, rhizomelic, type 2, 222765, RHIZOMELIC CHONDRODYSPLASIA PUNCTATA TYPE 2 (RCDP2)
Component of the following Super Panels:
  • - Paediatric disorders
R-numbers: R104
Signed-off version 2.2
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Rhizomelic Chondrodysplasia Punctata, RCDP2, Rhizomelic chondrodysplasia punctata type 2, Chondrodysplasia punctata, rhizomelic, type 2, 222765