PanelApp
  1. Genes and Genomic Entities
  2. CA8

CA8

carbonic anhydrase 8
OMIM: 114815, Gene2Phenotype

6 panels

Panel Reviews Mode of inheritance Details
6 panels

Green CA8 in Cerebellar and Pontocerebellar Hypoplasia


Level 2: Neurology and neurodevelopmental disorders
Version 1.91

1 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 1.3512

1 review Unknown
Sources
  • Expert Review Green
  • Expert list
  • Victorian Clinical Genetics Services

Green CA8 in Regression


Level 2: Neurology and neurodevelopmental disorders
Version 0.594

1 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 1.410

1 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 1.60

Component of the following Super Panels:

  • Ataxia_Superpanel
  • Neuromuscular Superpanel
  • Progressive Neurological Conditions

    		•  1 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 1.465

    		1 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