1. Genes and Genomic Entities
  2. CHMP1A

CHMP1A

charged multivesicular body protein 1A
OMIM: 164010, Gene2Phenotype

10 panels

Panel Reviews Mode of inheritance Details
10 panels
Green CHMP1A in Ataxia and cerebellar anomalies - narrow panel


Level 2: Neurology
Version 8.85
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
    • Pontocerebellar hypoplasia, type 8, 614961
    Green CHMP1A 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
    • Expert Review
    Phenotypes
    • Pontocerebellar hypoplasia, type 8, 614961
    Red CHMP1A in Arthrogryposis


    Level 2: Neurology
    Version 9.34
    Latest signed off version: v9.0 (30 Apr 2025)

    		review Not set
    Sources
    • Expert Review Red
    Green CHMP1A 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 Green
    • Radboud University Medical Center, Nijmegen
    • UKGTN
    • Other
    • Literature
    Phenotypes
    • Pontocerebellar Hypoplasia type 8
    • Pontocerebellar Hypoplasia
    • Pontocerebellar hypoplasia,type 8,614961
    Red CHMP1A in Adult onset neurodegenerative disorder


    Level 2: Neurology
    Version 8.21
    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
    • Pontocerebellar hypoplasia, type 8, 614961
    Green CHMP1A in Fetal anomalies


    Level 2: Fetal (including NIPD)
    Version 6.196
    Latest signed off version: v6.0 (30 Apr 2025)

    		review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • PAGE DD-Gene2Phenotype
    Phenotypes
    • Pontocerebellar hypoplasia, type 8, OMIM:614961
    • Pontocerebellar hypoplasia type 8, MONDO:0013990
    Green CHMP1A in DDG2P


    Version 6.447
    Latest signed off version: v6.0 (30 Apr 2025)

    Component of the following Super Panels:

  • Paediatric disorders

    		•  review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • DD-Gene2Phenotype
    Phenotypes
    • PONTOCEREBELLAR HYPOPLASIA AND MICROCEPHALY 614961
    Green CHMP1A in Intellectual disability


    Level 2: Developmental disorders
    Version 9.400
    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
    • Expert Review Green
    Phenotypes
    • Pontocerebellar hypoplasia, type 8 614961
    Amber CHMP1A in Hereditary ataxia with onset in adulthood


    Level 2: Neurology
    Version 8.30
    Latest signed off version: v8.0 (30 Apr 2025)

    		review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Amber
    • NHS GMS
    • Wessex and West Midlands GLH
    • Hereditary ataxia v1.148
    Phenotypes
    • Pontocerebellar hypoplasia, type 8 OMIM:614961
    • pontocerebellar hypoplasia type 8 MONDO:0013990
    Red CHMP1A in Childhood onset dystonia, chorea or related movement disorder


    Level 2: Neurology
    Version 7.25
    Latest signed off version: v7.0 (30 Apr 2025)

    		review Not set
    Sources
    • Expert Review Red
    • London North GLH