Genomics England

CA8

carbonic anhydrase 8

Panel	Mode of inheritance	Details
Filter panels5 panels
Green in Ataxia and cerebellar anomalies - narrow panel Component of the following Super Panels: - Hereditary ataxia and cerebellar anomalies - childhood onset Signed-off version 9.0	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Cerebellar ataxia and mental retardation with or without quadrupedal locomotion 3 613227, Cerebellar ataxia and mental retardation with or without quadrupedal locomotion 3
Green in DDG2P Component of the following Super Panels: - Paediatric disorders Signed-off version 7.0	BIALLELIC, autosomal or pseudoautosomal	Phenotypes CEREBELLAR ATAXIA MENTAL RETARDATION AND DYSEQUILIBRIUM SYNDROME TYPE 3 613227
Green in Fetal anomalies R-numbers: R21, R412 Signed-off version 7.0	BIALLELIC, autosomal or pseudoautosomal	Phenotypes CEREBELLAR ATAXIA MENTAL RETARDATION AND DYSEQUILIBRIUM SYNDROME TYPE 3
Green in Hereditary ataxia with onset in adulthood Component of the following Super Panels: - Adult-onset neurological disorders Signed-off version 9.0	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Cerebellar ataxia and mental retardation with or without quadrupedal locomotion 3, Cerebellar ataxia and mental retardation with or without quadrupedal locomotion 3, 613227
Green in Intellectual disability Component of the following Super Panels: - Childhood onset leukodystrophy - Hypotonic infant - Paediatric disorders R-numbers: R29 Signed-off version 10.0	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Cerebellar ataxia and mental retardation with or without quadrupedal locomotion 3, 613227, CEREBELLAR ATAXIA MENTAL RETARDATION AND DYSEQUILIBRIUM SYNDROME TYPE 3 (CMARQ3)