CA5A

carbonic anhydrase 5A
OMIM: 114761
PanelMode of inheritanceDetails
3 panels
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
Hyperammonemia due to carbonic anhydrase VA deficiency, Hyperammonemia (Urea cycle disorders and inherited hyperammonaemias)
Component of the following Super Panels:
  • - White matter disorders - childhood onset
Signed-off version 2.4
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Hyperammonemia due to carbonic anhydrase VA deficiency, 615751
R-numbers: R63
Signed-off version 1.17
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Hyperammonemia due to carbonic anhydrase VA deficiency, 615751