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  2. Ataxia and cerebellar anomalies - narrow panel
  3. CHMP1A
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Ataxia and cerebellar anomalies - narrow panel

Gene: CHMP1A

Green List (high evidence)
CHMP1A (charged multivesicular body protein 1A)
EnsemblGeneIds (GRCh38): ENSG00000131165
EnsemblGeneIds (GRCh37): ENSG00000131165
OMIM: 164010, Gene2Phenotype
CHMP1A is in 10 panels

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History Filter Activity

9 Jan 2019, Gel status: 4

Panel promoted to version 1.0

Louise Daugherty (Genomics England Curator)

Checked against super panel made up of the panel constituents. Ready to promote to version 1.

9 Jan 2019, Gel status: 4

Set publications

Louise Daugherty (Genomics England Curator)

Publications for gene: CHMP1A were set to PMID: 23023333

9 Jan 2019, Gel status: 4

Set Phenotypes

Louise Daugherty (Genomics England Curator)

Phenotypes for gene: CHMP1A were changed from Pontocerebellar Hypoplasia; Pontocerebellar Hypoplasia type 8; Pontocerebellar hypoplasia,type 8,614961; Pontocerebellar hypoplasia 8 (#614961) to Pontocerebellar hypoplasia, type 8, 614961

19 Dec 2018, Gel status: 4

Set Phenotypes, Set publications

Ellen McDonagh (Genomics England Curator)

Added phenotypes Pontocerebellar Hypoplasia; Pontocerebellar Hypoplasia type 8; Pontocerebellar hypoplasia,type 8,614961 for gene: CHMP1A Publications for gene CHMP1A were changed from to PMID: 23023333

19 Dec 2018, Gel status: 4

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

Ellen McDonagh (Genomics England Curator)

gene: CHMP1A was added gene: CHMP1A was added to Ataxia and cerebellar anomalies - narrow panel. Sources: Expert Review Green Mode of inheritance for gene: CHMP1A was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: CHMP1A were set to Pontocerebellar hypoplasia 8 (#614961)