Genomics England

CA2

carbonic anhydrase 2

Panel	Mode of inheritance	Details
Filter panels7 panels
Green in DDG2P Component of the following Super Panels: - Paediatric disorders Signed-off version 5.0	BIALLELIC, autosomal or pseudoautosomal	Phenotypes OSTEOPETROSIS AUTOSOMAL RECESSIVE TYPE 3 259730
Green in Fetal anomalies R-numbers: R21, R412 Signed-off version 5.0	BIALLELIC, autosomal or pseudoautosomal	Phenotypes OSTEOPETROSIS AUTOSOMAL RECESSIVE TYPE 3
Green in Intellectual disability Component of the following Super Panels: - Childhood onset leukodystrophy - Hypotonic infant - Paediatric disorders R-numbers: R29 Signed-off version 8.0	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
Green in Nephrocalcinosis or nephrolithiasis Component of the following Super Panels: - Unexplained young onset end-stage renal disease R-numbers: R256 Signed-off version 4.16	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
Green in Renal tubulopathies Component of the following Super Panels: - Unexplained young onset end-stage renal disease R-numbers: R198 Signed-off version 4.18	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Osteopetrosis, autosomal recessive 3, with renal tubular acidosis, 259730, Osteopetrosis with Renal Tubular Acidosis
Green in Skeletal dysplasia Component of the following Super Panels: - Paediatric disorders R-numbers: R104 Signed-off version 7.0	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Osteopetrosis, autosomal recessive 3, with renal tubular acidosis 259730