Hereditary ataxia with onset in adulthood
Gene: CLP1EnsemblGeneIds (GRCh38): ENSG00000172409
EnsemblGeneIds (GRCh37): ENSG00000172409
OMIM: 608757, Gene2Phenotype
CLP1 is in 9 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
Zornitza Stark has reviewed this gene as red on this panel, as the phenotype associated with variants in CLP1 is evident in childhood. Furthermore, only a single (founder) variant has been reported, in patients.Created: 16 Feb 2021, 5:19 p.m. | Last Modified: 16 Feb 2021, 5:29 p.m.
Panel Version: 2.23
Zornitza Stark (Australian Genomics)
Paediatric disorder.Created: 14 Feb 2021, 2:43 a.m. | Last Modified: 14 Feb 2021, 2:43 a.m.
Panel Version: 2.21
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Pontocerebellar hypoplasia type 10, 615803
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)
Reported cases (multiple unrelated individuals) all caused by a single missense that results in LoF p.Arg140HisCreated: 15 Apr 2019, 10:06 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Pontocerebellar hypoplasia type 10, 615803
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 10 OMIM:615803
- Tags
- OMIM
- 608757
- Clinvar variants
- Variants in CLP1
- 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: CLP1.
Added New Source, Status Update
Eleanor Williams (Genomics England Curator)Source Expert Review Amber was added to CLP1. Rating Changed from Green List (high evidence) to Amber List (moderate evidence)
Set Phenotypes
Sarah Leigh (Genomics England Curator)Phenotypes for gene: CLP1 were changed from Pontocerebellar hypoplasia type 10, 615803 to Pontocerebellar hypoplasia type 10 OMIM:615803
Set publications
Sarah Leigh (Genomics England Curator)Publications for gene: CLP1 were set to
Added Tag
Sarah Leigh (Genomics England Curator)Tag founder-effect tag was added to gene: CLP1.
Added Tag
Sarah Leigh (Genomics England Curator)Tag Q2_21_phenotype tag was added to gene: CLP1.
Set Phenotypes
Louise Daugherty (Genomics England Curator)Phenotypes for gene: CLP1 were changed from Pontocerebellar hypoplasia type 10, 615803; Pontocerebellar hypoplasia 10 (#615803) to Pontocerebellar hypoplasia type 10, 615803
Entity classified by Genomics England curator
Louise Daugherty (Genomics England Curator)Gene: clp1 has been classified as Green List (High Evidence).
Set Phenotypes
Louise Daugherty (Genomics England Curator)Added phenotypes Pontocerebellar hypoplasia type 10, 615803 for gene: CLP1
Added New Source
Louise Daugherty (Genomics England Curator)Source NHS GMS was added to CLP1.
Added New Source
Louise Daugherty (Genomics England Curator)Source Wessex and West Midlands GLH was added to CLP1.
Panel promoted to version 1.0
Louise Daugherty (Genomics England Curator)Louise Daugherty: Comment on phenotypes: Implica
Created, Added New Source, Set mode of inheritance, Set Phenotypes
Eleanor Williams (Genomics England Curator)gene: CLP1 was added gene: CLP1 was added to Hereditary ataxia - adult onset. Sources: Hereditary ataxia v1.148,Expert Review Red Mode of inheritance for gene: CLP1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: CLP1 were set to Pontocerebellar hypoplasia 10 (#615803)