Hereditary ataxia with onset in adulthood
Gene: CHMP1A
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
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
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.
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
Tag Q2_21_phenotype was removed from gene: CHMP1A.
Source Expert Review Amber was added to CHMP1A. Rating Changed from Green List (high evidence) to Amber List (moderate evidence)
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
Publications for gene: CHMP1A were set to
Tag Q2_21_phenotype tag was added to gene: CHMP1A.
Added phenotypes Pontocerebellar hypoplasia type 8, 614961 for gene: CHMP1A
Source NHS GMS was added to CHMP1A.
Source Wessex and West Midlands GLH was added to CHMP1A.
Checked panel against panel constituents. Ready to promote to version 1.
Phenotypes for gene: CHMP1A were changed from Pontocerebellar hypoplasia 8 (#614961) to Pontocerebellar hypoplasia, type 8, 614961
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)