1. Panels
  2. Ataxia - paediatric
  3. CHMP1A
Genes in panel
Prev Next
STRs in panel
Prev Next
Regions in panel
Prev Next

Ataxia - paediatric

Gene: CHMP1A

Red List (low evidence)
CHMP1A (charged multivesicular body protein 1A)
EnsemblGeneIds (GRCh38): ENSG00000131165
EnsemblGeneIds (GRCh37): ENSG00000131165
OMIM: 164010, Gene2Phenotype
CHMP1A is in 7 panels

2 reviews

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

Pontocerebellar hypoplasia type 8 is an autosomal recessive neurodevelopmental disorder characterized by severe psychomotor retardation, abnormal movements, hypotonia, spasticity, and variable visual defects. Brain MRI shows pontocerebellar hypoplasia, decreased cerebral white matter, and a thin corpus callosum.

Three families reported, although only 2 variants; two of the families likely founder effect. Animal model (zebrafish).
Created: 13 Feb 2021, 10:56 a.m. | Last Modified: 13 Feb 2021, 10:56 a.m.
Panel Version: 0.6362

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Pontocerebellar hypoplasia, type 8, MIM# 614961

Publications

Created: 13 Feb 2021, 10:56 a.m.
Last Modified: 13 Feb 2021, 10:56 a.m.
Panel version: Imported from Mendeliome panel version 0.6362

Bryony Thompson (Royal Melbourne Hospital)

Red List (low evidence)

Ataxia is not a prominent feature of the phenotype.
Sources: Expert list
Created: 16 Jan 2020, 5:22 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Pontocerebellar hypoplasia, type 8, 614961

Created: 16 Jan 2020, 5:22 a.m.

Panel version: 0.23

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert Review Red
  • Expert list
  • Victorian Clinical Genetics Services
Phenotypes
  • Pontocerebellar hypoplasia, type 8, 614961
OMIM
164010
Clinvar variants
Variants in CHMP1A
Penetrance
None
Panels with this gene

History Filter Activity

17 Apr 2020, Gel status: 1

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: chmp1a has been classified as Red List (Low Evidence).

16 Jan 2020, Gel status: 1

Created, Added New Source, Set mode of inheritance, Set Phenotypes

Bryony Thompson (Royal Melbourne Hospital)

gene: CHMP1A was added gene: CHMP1A was added to Ataxia - paediatric_RMH. Sources: Expert list Mode of inheritance for gene: CHMP1A was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: CHMP1A were set to Pontocerebellar hypoplasia, type 8, 614961 Review for gene: CHMP1A was set to RED