PanelApp (test)
  1. Genes and Genomic Entities
  2. CHMP1A:Ensemblv90

CHMP1A:Ensemblv90

charged multivesicular body protein 1A
OMIM: 164010, ClinGen, DECIPHER

12 panels

Panel Reviews Mode of inheritance Details
12 panels

Green CHMP1A in Cerebellar and Pontocerebellar Hypoplasia


Level 2: Neurology and neurodevelopmental disorders
Version 1.92

1 review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Pontocerebellar hypoplasia, type 8, MIM# 614961

Green CHMP1A in Mendeliome


Version 1.3802

2 reviews BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert list
  • Victorian Clinical Genetics Services
Phenotypes
  • Pontocerebellar hypoplasia, type 8, MIM# 614961

Green CHMP1A in Callosome


Level 2: Neurology and neurodevelopmental disorders
Version 0.578

0 reviews Unknown
Sources
  • Victorian Clinical Genetics Services
  • Expert Review Green

Red CHMP1A in Regression


Level 2: Neurology and neurodevelopmental disorders
Version 0.601

1 review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Victorian Clinical Genetics Services
Phenotypes
  • Pontocerebellar hypoplasia, type 8, MIM# 614961

Green CHMP1A in Intellectual disability syndromic and non-syndromic


Level 2: Neurology and neurodevelopmental disorders
Version 1.508

1 review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Genetic Health Queensland
Phenotypes
  • Pontocerebellar hypoplasia, type 8, MIM# 614961

Red CHMP1A in Ataxia


Level 2: Neurology and neurodevelopmental disorders
Version 1.162

Component of the following Super Panels:

  • Ataxia_Superpanel
  • Neuromuscular Superpanel
  • Progressive Neurological Conditions

    		•  2 reviews BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Expert Review Red
    • Expert list
    • Victorian Clinical Genetics Services
    Phenotypes
    • Pontocerebellar hypoplasia, type 8, 614961

    Green CHMP1A in Fetal anomalies


    Version 1.482

    		1 review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Genomics England PanelApp
    • Genetic Health Queensland
    Phenotypes
    • Pontocerebellar hypoplasia type 8, MONDO:0013990
    • Pontocerebellar hypoplasia, type 8, OMIM:614961

    Green CHMP1A in Prepair 1000+


    Level 2: Screening
    Version 2.15

    		2 reviews BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Literature
    Phenotypes
    • Pontocerebellar hypoplasia, type 8 MIM#614961

    Green CHMP1A in Cerebellar and Pontocerebellar Hypoplasia


    Level 2: Neurology and neurodevelopmental disorders
    Version 2.0

    		1 review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Victorian Clinical Genetics Services
    • Expert Review Green
    Phenotypes
    • Pontocerebellar hypoplasia, type 8, MIM# 614961

    Green CHMP1A in Callosome


    Level 2: Neurology and neurodevelopmental disorders
    Version 1.0

    		0 reviews Unknown
    Sources
    • Expert Review Green
    • Victorian Clinical Genetics Services

    Green CHMP1A in Intellectual disability syndromic and non-syndromic


    Level 2: Neurology and neurodevelopmental disorders
    Version 2.0

    		1 review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Genetic Health Queensland
    • Expert Review Green
    Phenotypes
    • Pontocerebellar hypoplasia, type 8, MIM# 614961

    Green CHMP1A in Prepair 1000+


    Level 2: Screening
    Version 3.0

    		2 reviews BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Literature
    • Expert Review Green
    Phenotypes
    • Pontocerebellar hypoplasia, type 8 MIM#614961