Genomics England
GMS Panels
Panels
Genes and Entities

CA8

carbonic anhydrase 8
OMIM: 114815
PanelMode of inheritanceDetails
5 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 7.0
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 5.0
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 5.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
CEREBELLAR ATAXIA MENTAL RETARDATION AND DYSEQUILIBRIUM SYNDROME TYPE 3
Green
in Hereditary ataxia with onset in adulthood
R-numbers: R54
Signed-off version 7.0
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 8.0
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)