CA2

carbonic anhydrase 2
OMIM: 611492
PanelMode of inheritanceDetails
7 panels
Green
in DDG2P
Component of the following Super Panels:
  • - Paediatric disorders
Signed-off version 2.2
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
OSTEOPETROSIS AUTOSOMAL RECESSIVE TYPE 3 259730
R-numbers: R21
Signed-off version 1.92
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
OSTEOPETROSIS AUTOSOMAL RECESSIVE TYPE 3
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
Osteopetrosis, autosomal recessive 3, with renal tubular acidosis, 259730, OSTEOPETROSIS AUTOSOMAL RECESSIVE TYPE 3 (OPTB3), carbonic anhydrase II deficiency, intellectual disability
R-numbers: R256
Signed-off version 2.2
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Osteopetrosis, autosomal recessive 3, with renal tubular acidosis
Green
in Osteopetrosis
R-numbers: R104.4
Signed-off version 1.1
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Osteopetrosis, autosomal recessive 3, with renal tubular acidosis 259730
R-numbers: R198
Signed-off version 2.23
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Osteopetrosis, autosomal recessive 3, with renal tubular acidosis, 259730, Osteopetrosis with Renal Tubular Acidosis
Component of the following Super Panels:
  • - Paediatric disorders
R-numbers: R104
Signed-off version 2.2
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Osteopetrosis, autosomal recessive 3, with renal tubular acidosis 259730