1. Genes and Genomic Entities
  2. CLP1

CLP1

cleavage and polyadenylation factor I subunit 1
OMIM: 608757, Gene2Phenotype

9 panels

Panel Reviews Mode of inheritance Details
9 panels
Green CLP1 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
    • NHS GMS
    • Expert Review Green
    Phenotypes
    • Pontocerebellar hypoplasia 10 OMIM:615803
    • Pontocerebellar hypoplasia type 10 MONDO:0014349
    Tags
    • founder-effect
    Green CLP1 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
    • Expert Review
    Phenotypes
    • Pontocerebellar hypoplasia 10 OMIM:615803
    • Pontocerebellar hypoplasia type 10 MONDO:0014349
    Tags
    • founder-effect
    Green CLP1 in Cerebellar hypoplasia

    Level 3: Motor Disorders of the CNS
    Level 2: Neurology and neurodevelopmental disorders
    Version 1.73

    		review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • UKGTN
    • Other
    • Literature
    Phenotypes
    • Pontocerebellar hypoplasia 10 OMIM:615803
    • Pontocerebellar hypoplasia type 10 MONDO:0014349
    Tags
    • founder-effect
    Red CLP1 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
    • Yorkshire and North East GLH
    • NHS GMS
    • South West GLH
    Phenotypes
    • Pontocerebellar hypoplasia 10, 615803
    Green CLP1 in Fetal anomalies


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

    		review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • PAGE DD-Gene2Phenotype
    Phenotypes
    • Pontocerebellar hypoplasia, type 10, OMIM:615803
    • Pontocerebellar hypoplasia type 10, MONDO:0014349
    Tags
    • founder-effect
    Green CLP1 in DDG2P


    Version 4.3
    Latest signed off version: v4.0 (1 May 2024)

    Component of the following Super Panels:

  • Paediatric disorders

    		•  review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • DD-Gene2Phenotype
    Phenotypes
    • Pontocerebellar hypoplasia 10 OMIM:615803
    • Pontocerebellar hypoplasia type 10 MONDO:0014349
    Tags
    • founder-effect
    Green CLP1 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 Green
    Phenotypes
    • Pontocerebellar hypoplasia 10 OMIM:615803
    • Pontocerebellar hypoplasia type 10 MONDO:0014349
    Tags
    • founder-effect
    Amber CLP1 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
    • Expert Review Amber
    • NHS GMS
    • Wessex and West Midlands GLH
    • Hereditary ataxia v1.148
    Phenotypes
    • Pontocerebellar hypoplasia type 10 OMIM:615803
    Tags
    • founder-effect
    Green CLP1 in Severe Paediatric Disorders


    Version 1.184

    		review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Next Generation Children Project
    • Expert Review Green
    • Expert list
    Phenotypes
    • Pontocerebellar hypoplasia 10 OMIM:615803
    • Pontocerebellar hypoplasia type 10 MONDO:0014349
    Tags
    • founder-effect