Hereditary ataxia with onset in adulthood
Gene: CLP1
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
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
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.
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
Tag Q2_21_phenotype was removed from gene: CLP1.
Source Expert Review Amber was added to CLP1. Rating Changed from Green List (high evidence) to Amber List (moderate evidence)
Phenotypes for gene: CLP1 were changed from Pontocerebellar hypoplasia type 10, 615803 to Pontocerebellar hypoplasia type 10 OMIM:615803
Publications for gene: CLP1 were set to
Tag founder-effect tag was added to gene: CLP1.
Tag Q2_21_phenotype tag was added to gene: CLP1.
Phenotypes for gene: CLP1 were changed from Pontocerebellar hypoplasia type 10, 615803; Pontocerebellar hypoplasia 10 (#615803) to Pontocerebellar hypoplasia type 10, 615803
Gene: clp1 has been classified as Green List (High Evidence).
Added phenotypes Pontocerebellar hypoplasia type 10, 615803 for gene: CLP1
Source NHS GMS was added to CLP1.
Source Wessex and West Midlands GLH was added to CLP1.
Louise Daugherty: Comment on phenotypes: Implica
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)