Hereditary ataxia with onset in adulthood
Gene: CHMP1AEnsemblGeneIds (GRCh38): ENSG00000131165
EnsemblGeneIds (GRCh37): ENSG00000131165
OMIM: 164010, Gene2Phenotype
CHMP1A is in 10 panels
4 reviews
Sarah Leigh (Genomics England Curator)
The rating of this gene has been updated following NHS Genomic Medicine Service approval.Created: 9 Mar 2022, 5:26 p.m. | Last Modified: 9 Mar 2022, 5:26 p.m.
Panel Version: 2.144
The phenotype associated with variants in CHMP1A is not relevant to this panel as it is evident from childhood (PMID 23023333) .Created: 16 Feb 2021, 6:09 p.m. | Last Modified: 16 Feb 2021, 6:09 p.m.
Panel Version: 2.23
Zornitza Stark (Australian Genomics)
This is a paediatric disorder and ataxia is not prominent.Created: 13 Feb 2021, 11:01 a.m. | Last Modified: 13 Feb 2021, 11:01 a.m.
Panel Version: 2.21
Phenotypes
Pontocerebellar hypoplasia, type 8, MIM# 614961
Publications
Louise Daugherty (Genomics England Curator)
Review and rating from Tracy Lester (Oxford Medical Genetics Laboratories Oxford University Hospitals NHS Foundation Trust) on behalf of Wessex and West Midlands GLH for GMS Neurology specialist test group.Created: 15 Apr 2019, 10:21 a.m.
Tracy Lester (Genetics laboratory, Oxford UK)
Three families reported, functional evidence for gene provided. N.B - NM_001083314.3 is not relevantCreated: 15 Apr 2019, 10:06 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Pontocerebellar hypoplasia type 8, 614961
Variants in this GENE are reported as part of current diagnostic practice
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Amber
- NHS GMS
- Wessex and West Midlands GLH
- Hereditary ataxia v1.148
- Phenotypes
-
- Pontocerebellar hypoplasia, type 8 OMIM:614961
- pontocerebellar hypoplasia type 8 MONDO:0013990
- OMIM
- 164010
- Clinvar variants
- Variants in CHMP1A
- Penetrance
- None
- Publications
- Panels with this gene
History Filter Activity
Removed Tag
Eleanor Williams (Genomics England Curator)Tag Q2_21_phenotype was removed from gene: CHMP1A.
Added New Source, Status Update
Eleanor Williams (Genomics England Curator)Source Expert Review Amber was added to CHMP1A. Rating Changed from Green List (high evidence) to Amber List (moderate evidence)
Set Phenotypes
Sarah Leigh (Genomics England Curator)Phenotypes for gene: CHMP1A were changed from Pontocerebellar hypoplasia, type 8, 614961; Pontocerebellar hypoplasia type 8, 614961 to Pontocerebellar hypoplasia, type 8 OMIM:614961; pontocerebellar hypoplasia type 8 MONDO:0013990
Set publications
Sarah Leigh (Genomics England Curator)Publications for gene: CHMP1A were set to
Added Tag
Sarah Leigh (Genomics England Curator)Tag Q2_21_phenotype tag was added to gene: CHMP1A.
Set Phenotypes
Louise Daugherty (Genomics England Curator)Added phenotypes Pontocerebellar hypoplasia type 8, 614961 for gene: CHMP1A
Added New Source
Louise Daugherty (Genomics England Curator)Source NHS GMS was added to CHMP1A.
Added New Source
Louise Daugherty (Genomics England Curator)Source Wessex and West Midlands GLH was added to CHMP1A.
Panel promoted to version 1.0
Louise Daugherty (Genomics England Curator)Checked panel against panel constituents. Ready to promote to version 1.
Set Phenotypes
Louise Daugherty (Genomics England Curator)Phenotypes for gene: CHMP1A were changed from Pontocerebellar hypoplasia 8 (#614961) to Pontocerebellar hypoplasia, type 8, 614961
Created, Added New Source, Set mode of inheritance, Set Phenotypes
Eleanor Williams (Genomics England Curator)gene: CHMP1A was added gene: CHMP1A was added to Hereditary ataxia - adult onset. Sources: Hereditary ataxia v1.148,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)