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Intellectual disability syndromic and non-syndromic

Gene: CHMP1A

Green List (high evidence)

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

1 review

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, 11:02 a.m. | Last Modified: 13 Feb 2021, 11:02 a.m.
Panel Version: 0.3443

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Pontocerebellar hypoplasia, type 8, MIM# 614961

Publications

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Genetic Health Queensland
Phenotypes
  • Pontocerebellar hypoplasia, type 8, MIM# 614961
OMIM
164010
Clinvar variants
Variants in CHMP1A
Penetrance
None
Publications
Panels with this gene

History Filter Activity

13 Feb 2021, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: chmp1a has been classified as Green List (High Evidence).

13 Feb 2021, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: CHMP1A were changed from to Pontocerebellar hypoplasia, type 8, MIM# 614961

13 Feb 2021, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: CHMP1A were set to

13 Feb 2021, Gel status: 3

Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Mode of inheritance for gene: CHMP1A was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal

22 Nov 2019, Gel status: 3

Created, Added New Source, Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: CHMP1A was added gene: CHMP1A was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: CHMP1A was set to Unknown