1. Genes and Genomic Entities
  2. ATCAY

ATCAY

ATCAY, caytaxin
OMIM: 608179, Gene2Phenotype

7 panels

Panel Reviews Mode of inheritance Details
7 panels
Green ATCAY in Ataxia and cerebellar anomalies - narrow panel


Version 5.3
Latest signed off version: v5.0 (1 May 2024)

Component of the following Super Panels:

  • Hereditary ataxia and cerebellar anomalies - childhood onset

    		•  review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    Phenotypes
    • Ataxia, cerebellar, Cayman type OMIM:601238
    • Cayman type cerebellar ataxia MONDO:0011025
    Green ATCAY in Hereditary ataxia

    Level 3: Motor Disorders of the CNS
    Level 2: Neurology and neurodevelopmental disorders
    Version 1.332

    		review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • UKGTN
    • Illumina TruGenome Clinical Sequencing Services
    • Radboud University Medical Center, Nijmegen
    Phenotypes
    • Ataxia, cerebellar, Cayman type OMIM:601238
    • Cayman type cerebellar ataxia MONDO:0011025
    Red ATCAY in Adult onset neurodegenerative disorder


    Version 5.1
    Latest signed off version: v5.0 (1 May 2024)

    		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
    • Ataxia, cerebellar, Cayman type
    • Cerebellar Ataxia, Cayman type
    Red ATCAY in Intellectual disability

    Level 3: Neurodevelopmental disorders
    Level 2: Neurology and neurodevelopmental disorders
    Version 6.11
    Latest signed off version: v6.0 (1 May 2024)

    Component of the following Super Panels:

  • Childhood onset leukodystrophy
  • Hypotonic infant
  • Paediatric disorders

    		•  review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Red
    • BRIDGE study SPEED NEURO Tier1 Gene
    Phenotypes
    • Ataxia, cerebellar, Cayman type 601238
    Tags
    • founder-effect
    Green ATCAY in Hereditary ataxia with onset in adulthood


    Version 5.3
    Latest signed off version: v5.0 (1 May 2024)

    		review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • London North GLH
    • NHS GMS
    • Wessex and West Midlands GLH
    • Expert Review Green
    • Hereditary ataxia v1.148
    Phenotypes
    • Ataxia, cerebellar, Cayman type OMIM:601238
    • Cayman type cerebellar ataxia MONDO:0011025
    Amber ATCAY in Childhood onset dystonia, chorea or related movement disorder


    Version 4.1
    Latest signed off version: v4.0 (1 May 2024)

    		review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • London North GLH
    • Expert Review Amber
    Phenotypes
    • Ataxia, cerebellar, Cayman type, 601238
    Green ATCAY in Severe Paediatric Disorders


    Version 1.184

    		review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Next Generation Children Project
    • Expert Review Green
    • Expert list
    Phenotypes
    • Ataxia, cerebellar, Cayman type, 601238