AGPS

alkylglycerone phosphate synthase
OMIM: 603051
PanelMode of inheritanceDetails
5 panels
R-numbers: R31
Signed-off version 4.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Rhizomelic chondrodysplasia punctata type 3, rhizomelic chondrodysplasia punctata type 3 (RCDP3)
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 3 600121
R-numbers: R21, R412
Signed-off version 4.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
RHIZOMELIC CHONDRODYSPLASIA PUNCTATA TYPE 3
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 3 600121, Rhizomelic chondrodysplasia punctata type 3 (Peroxisomal disorders)
Component of the following Super Panels:
  • - Paediatric disorders
R-numbers: R104
Signed-off version 5.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Foundation Trust) Rhizomelic chondrodysplasia punctata, type 3 600121, Rhizomelic chondrodysplasia punctata, type 3 600121