Renal Tubulopathies and related disorders
Gene: CA2
CA2 (carbonic anhydrase 2)
EnsemblGeneIds (GRCh38): ENSG00000104267
EnsemblGeneIds (GRCh37): ENSG00000104267
OMIM: 611492, Gene2Phenotype
CA2 is in 12 panels
EnsemblGeneIds (GRCh38): ENSG00000104267
EnsemblGeneIds (GRCh37): ENSG00000104267
OMIM: 611492, Gene2Phenotype
CA2 is in 12 panels
1 review
Chirag Patel (Genetic Health Queensland)
Established gene-disease associationCreated: 2 Dec 2022, 12:05 a.m. | Last Modified: 2 Dec 2022, 12:05 a.m.
Panel Version: 0.15
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Osteopetrosis, autosomal recessive 3, with renal tubular acidosis, MIM#259730
Publications
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- Victorian Clinical Genetics Services
- Phenotypes
-
- Osteopetrosis, autosomal recessive 3, with renal tubular acidosis, MIM#259730
- OMIM
- 611492
- Clinvar variants
- Variants in CA2
- Penetrance
- None
- Publications
- Panels with this gene
-
- Macrocephaly_Megalencephaly
- Mackenzie's Mission_Reproductive Carrier Screening
- Skeletal dysplasia
- Fetal anomalies
- Additional findings_Paediatric
- Prepair 1000+
- Mendeliome
- Brain Calcification
- BabyScreen+ newborn screening
- Osteopetrosis
- Renal Tubulopathies and related disorders
- Intellectual disability syndromic and non-syndromic
History Filter Activity
1 Dec 2022, Gel status: 3
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)gene: CA2 was added gene: CA2 was added to Renal Tubulopathies and related disorders. Sources: Victorian Clinical Genetics Services,Expert Review Green Mode of inheritance for gene: CA2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: CA2 were set to 34624559; 12566520; 33555497; 7627193 Phenotypes for gene: CA2 were set to Osteopetrosis, autosomal recessive 3, with renal tubular acidosis, MIM#259730