CA2

carbonic anhydrase 2
OMIM: 611492, ClinGen, DECIPHER

12 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 12 panels
Green CA2 in Brain Calcification Level 2: Neurology and neurodevelopmental disorders Version 3.0	2 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Phenotypes Osteopetrosis, autosomal recessive 3, with renal tubular acidosis, MIM# 259730
Green CA2 in Macrocephaly_Megalencephaly Level 2: Dysmorphic and congenital abnormality syndromes Version 1.0	0 reviews	Unknown	Sources Victorian Clinical Genetics Services Expert Review Green
Green CA2 in Mendeliome Version 2.0	2 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Victorian Clinical Genetics Services Phenotypes Osteopetrosis, autosomal recessive 3, with renal tubular acidosis, MIM#259730 Tags treatable
Green CA2 in Osteopetrosis Level 2: Skeletal disorders Version 2.0	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Osteopetrosis, autosomal recessive 3, with renal tubular acidosis, MIM#259730
Green CA2 in Intellectual disability syndromic and non-syndromic Level 2: Neurology and neurodevelopmental disorders Version 2.0	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genetic Health Queensland Phenotypes Osteopetrosis, autosomal recessive 3, with renal tubular acidosis, MIM#259730
Green CA2 in Skeletal dysplasia Level 3: Skeletal dysplasias Level 2: Skeletal disorders Version 1.0	2 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert Review Green NHS GMS Expert list Victorian Clinical Genetics Services Phenotypes Osteopetrosis, autosomal recessive 3, with renal tubular acidosis 259730
Green CA2 in Mackenzie's Mission_Reproductive Carrier Screening Level 2: Screening Version 1.0	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Osteopetrosis, autosomal recessive 3, with renal tubular acidosis, 259730 (3)
Green CA2 in Additional findings_Paediatric Level 2: Screening Version 1.0	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources BabySeq Category A gene Expert Review Green Phenotypes Osteopetrosis, autosomal recessive 3, with renal tubular acidosis
Green CA2 in Fetal anomalies Version 2.0	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genomics England PanelApp Genetic Health Queensland Phenotypes Osteopetrosis, autosomal recessive 3, with renal tubular acidosis, MIM#259730
Green CA2 in Prepair 1000+ Level 2: Screening Version 3.0	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Osteopetrosis, autosomal recessive 3, with renal tubular acidosis, MIM#259730
Green CA2 in Genomic newborn screening: BabyScreen+ Level 2: Screening Version 2.0	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green BabySeq Category A gene Phenotypes Osteopetrosis, autosomal recessive 3, with renal tubular acidosis, MIM#259730 Tags treatable skeletal
Green CA2 in Renal Tubulopathies and related disorders Level 2: Renal and urinary tract disorders Version 2.0	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Osteopetrosis, autosomal recessive 3, with renal tubular acidosis, MIM#259730