CA8

carbonic anhydrase 8
OMIM: 114815, Gene2Phenotype

9 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 9 panels
Green CA8 in Ataxia and cerebellar anomalies - narrow panel Level 2: Neurology Version 8.63 Latest signed off version: v8.0 (30 Apr 2025) Component of the following Super Panels: Hereditary ataxia and cerebellar anomalies - childhood onset	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green 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 CA8 in Hereditary ataxia Level 3: Motor Disorders of the CNS Level 2: Neurology and neurodevelopmental disorders Version 1.344	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Radboud University Medical Center, Nijmegen Phenotypes Cerebellar ataxia and mental retardation with or without quadrupedal locomotion 3
Amber CA8 in Cerebellar hypoplasia Level 3: Motor Disorders of the CNS Level 2: Neurology and neurodevelopmental disorders Version 1.86	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Radboud University Medical Center, Nijmegen Phenotypes Cerebellar ataxia and mental retardation with or without quadrupedal locomotion 3 613227
Red CA8 in Adult onset neurodegenerative disorder Level 2: Neurology Version 8.11 Latest signed off version: v8.0 (30 Apr 2025)	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Wessex and West Midlands GLH Yorkshire and North East GLH NHS GMS London North GLH Phenotypes Cerebellar ataxia and mental retardation with or without quadrupedal locomotion 3
Green CA8 in Fetal anomalies Level 2: Fetal (including NIPD) Version 6.140 Latest signed off version: v6.0 (30 Apr 2025)	review	BIALLELIC, autosomal or pseudoautosomal	Sources PAGE DD-Gene2Phenotype Expert Review Green Phenotypes CEREBELLAR ATAXIA MENTAL RETARDATION AND DYSEQUILIBRIUM SYNDROME TYPE 3
Green CA8 in DDG2P Version 6.424 Latest signed off version: v6.0 (30 Apr 2025) Component of the following Super Panels: Paediatric disorders	review	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes CEREBELLAR ATAXIA MENTAL RETARDATION AND DYSEQUILIBRIUM SYNDROME TYPE 3 613227
Green CA8 in Intellectual disability Level 2: Developmental disorders Version 9.279 Latest signed off version: v9.0 (30 Apr 2025) Component of the following Super Panels: Childhood onset leukodystrophy Hypotonic infant Paediatric disorders	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Radboud University Medical Center, Nijmegen Phenotypes Cerebellar ataxia and mental retardation with or without quadrupedal locomotion 3, 613227 CEREBELLAR ATAXIA MENTAL RETARDATION AND DYSEQUILIBRIUM SYNDROME TYPE 3 (CMARQ3)
Green CA8 in Hereditary ataxia with onset in adulthood Level 2: Neurology Version 8.23 Latest signed off version: v8.0 (30 Apr 2025)	review	BIALLELIC, autosomal or pseudoautosomal	Sources NHS GMS Wessex and West Midlands GLH Expert Review Green Hereditary ataxia v1.148 Phenotypes Cerebellar ataxia and mental retardation with or without quadrupedal locomotion 3 Cerebellar ataxia and mental retardation with or without quadrupedal locomotion 3, 613227
Amber CA8 in Childhood onset dystonia, chorea or related movement disorder Level 2: Neurology Version 7.13 Latest signed off version: v7.0 (30 Apr 2025)	review	BIALLELIC, autosomal or pseudoautosomal	Sources London North GLH Expert Review Amber Phenotypes Cerebellar ataxia and mental retardation with or without quadrupedal locomotion 3, 613227