Genomics England
GMS Panels
Panels
Genes and Entities

CA5A

carbonic anhydrase 5A
OMIM: 114761
PanelMode of inheritanceDetails
3 panels
Green
in Likely inborn error of metabolism - targeted testing not possible
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 4.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Hyperammonemia due to carbonic anhydrase VA deficiency, Hyperammonemia (Urea cycle disorders and inherited hyperammonaemias)
Green
in Mitochondrial disorders
Component of the following Super Panels:
  • - Childhood onset leukodystrophy
Signed-off version 4.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Hyperammonemia due to carbonic anhydrase VA deficiency, 615751
Green
in Possible mitochondrial disorder - nuclear genes
R-numbers: R63
Signed-off version 3.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Hyperammonemia due to carbonic anhydrase VA deficiency, 615751