CA5A

carbonic anhydrase 5A
OMIM: 114761
PanelMode of inheritanceDetails
4 panels
Green
in DDG2P
Component of the following Super Panels:
  • - Paediatric disorders
Signed-off version 4.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
HYPERAMMONEMIA DUE TO CARBONIC ANHYDRASE VA DEFICIENCY 615751
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
Hyperammonemia due to carbonic anhydrase VA deficiency, Hyperammonemia (Urea cycle disorders and inherited hyperammonaemias)
Component of the following Super Panels:
  • - Childhood onset leukodystrophy
Signed-off version 6.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Hyperammonemia due to carbonic anhydrase VA deficiency, 615751
R-numbers: R63
Signed-off version 3.105
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Hyperammonemia due to carbonic anhydrase VA deficiency, 615751