PanelApp
  1. Genes and Genomic Entities
  2. CLP1

CLP1

cleavage factor polyribonucleotide kinase subunit 1
OMIM: 608757, ClinGen, DECIPHER

9 panels

Panel Reviews Mode of inheritance Details
9 panels

Green CLP1 in Cerebellar and Pontocerebellar Hypoplasia


Level 2: Neurology and neurodevelopmental disorders
Version 2.6

1 review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Pontocerebellar hypoplasia, type 10, MIM# 615803
Tags
  • founder

Green CLP1 in Mendeliome


Version 2.588

1 review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Pontocerebellar hypoplasia type 10, MIM# 615803
Tags
  • founder

Green CLP1 in Intellectual disability syndromic and non-syndromic


Level 2: Neurology and neurodevelopmental disorders
Version 2.145

1 review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Genetic Health Queensland
Phenotypes
  • Pontocerebellar hypoplasia type 10, MIM# 615803
Tags
  • founder

Red CLP1 in Ataxia


Level 2: Neurology and neurodevelopmental disorders
Version 2.157

Component of the following Super Panels:

  • Movement Disorders Superpanel
  • Neurodegenerative disease - adult onset
  • Progressive Neurological Conditions

    		•  1 review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Literature
    Phenotypes
    • pontocerebellar hypoplasia type 10, MONDO:0014349

    Green CLP1 in Hereditary Neuropathy


    Level 2: Neurology and neurodevelopmental disorders
    Version 2.101

    Component of the following Super Panels:

  • Neuromuscular Superpanel
  • Progressive Neurological Conditions

    		•  1 review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Royal Melbourne Hospital
    Phenotypes
    • Pontocerebellar hypoplasia, type 10 (MIM#615803)

    Green CLP1 in Mackenzie's Mission_Reproductive Carrier Screening


    Level 2: Screening
    Version 1.0

    		0 reviews BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Mackenzie's Mission
    Phenotypes
    • Pontocerebellar hypoplasia, type 10, 615803 (3)

    Green CLP1 in Fetal anomalies


    Version 2.81

    		1 review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Genomics England PanelApp
    • Genetic Health Queensland
    Phenotypes
    • Pontocerebellar hypoplasia, type 10, OMIM:615803
    • Pontocerebellar hypoplasia type 10, MONDO:0014349

    Green CLP1 in Prepair 1000+


    Level 2: Screening
    Version 3.0

    		1 review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Mackenzie's Mission
    Phenotypes
    • Pontocerebellar hypoplasia, type 10, 615803 (3)

    Green CLP1 in Prepair 500+


    Level 2: Screening
    Version 3.0

    		1 review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Mackenzie's Mission
    Phenotypes
    • Pontocerebellar hypoplasia, type 10 MIM#615803