CA8

carbonic anhydrase 8
OMIM: 114815, Gene2Phenotype

6 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 6 panels
Green CA8 in Cerebellar and Pontocerebellar Hypoplasia Level 2: Neurology and neurodevelopmental disorders Version 1.65	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert Review Phenotypes Cerebellar ataxia and mental retardation with or without quadrupedal locomotion 3 613227
Green CA8 in Mendeliome Version 1.1891	review	Unknown	Sources Expert Review Green Expert list Victorian Clinical Genetics Services
Green CA8 in Regression Level 2: Neurology and neurodevelopmental disorders Version 0.556	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Victorian Clinical Genetics Services Phenotypes Cerebellar ataxia and mental retardation with or without quadrupedal locomotion 3, MIM#613227
Green CA8 in Intellectual disability syndromic and non-syndromic Level 2: Neurology and neurodevelopmental disorders Version 0.6063	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genetic Health Queensland Phenotypes Cerebellar ataxia and mental retardation with or without quadrupedal locomotion 3, MIM#613227
Green CA8 in Ataxia - paediatric Level 2: Neurology and neurodevelopmental disorders Version 1.26 Component of the following Super Panels: Ataxia_Superpanel Neuromuscular Superpanel Progressive Neurological Conditions	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Royal Melbourne Hospital Expert list Victorian Clinical Genetics Services Phenotypes Cerebellar ataxia and mental retardation with or without quadrupedal locomotion 3 Cerebellar ataxia and mental retardation with or without quadrupedal locomotion 3, 613227
Red CA8 in Fetal anomalies Version 1.255	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Genomics England PanelApp Genetic Health Queensland Phenotypes Cerebellar ataxia and mental retardation with or without quadrupedal locomotion 3, MIM#613227