Genes in panel

Hereditary ataxia - adult onset

Gene: CLP1

Green List (high evidence)

CLP1 (cleavage and polyadenylation factor I subunit 1)
EnsemblGeneIds (GRCh38): ENSG00000172409
EnsemblGeneIds (GRCh37): ENSG00000172409
OMIM: 608757, Gene2Phenotype
CLP1 is in 9 panels

4 reviews

Sarah Leigh (Genomics England Curator)

Red List (low evidence)

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)

Red List (low evidence)

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)

I don't know

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)

Green List (high evidence)

Reported cases (multiple unrelated individuals) all caused by a single missense that results in LoF p.Arg140His
Created: 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 Green
  • NHS GMS
  • Wessex and West Midlands GLH
  • Hereditary ataxia v1.148
Phenotypes
  • Pontocerebellar hypoplasia type 10 OMIM:615803
Tags
founder-effect Q2_21_phenotype
OMIM
608757
Clinvar variants
Variants in CLP1
Penetrance
None
Publications
Panels with this gene

History Filter Activity

16 Feb 2021, Gel status: 3

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

16 Feb 2021, Gel status: 3

Set publications

Sarah Leigh (Genomics England Curator)

Publications for gene: CLP1 were set to

16 Feb 2021, Gel status: 3

Added Tag

Sarah Leigh (Genomics England Curator)

Tag founder-effect tag was added to gene: CLP1.

16 Feb 2021, Gel status: 3

Added Tag

Sarah Leigh (Genomics England Curator)

Tag Q2_21_phenotype tag was added to gene: CLP1.

27 Apr 2019, Gel status: 3

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

27 Apr 2019, Gel status: 3

Entity classified by Genomics England curator

Louise Daugherty (Genomics England Curator)

Gene: clp1 has been classified as Green List (High Evidence).

15 Apr 2019, Gel status: 1

Set Phenotypes

Louise Daugherty (Genomics England Curator)

Added phenotypes Pontocerebellar hypoplasia type 10, 615803 for gene: CLP1

14 Apr 2019, Gel status: 1

Added New Source

Louise Daugherty (Genomics England Curator)

Source NHS GMS was added to CLP1.

14 Apr 2019, Gel status: 1

Added New Source

Louise Daugherty (Genomics England Curator)

Source Wessex and West Midlands GLH was added to CLP1.

9 Jan 2019, Gel status: 1

Panel promoted to version 1.0

Louise Daugherty (Genomics England Curator)

Louise Daugherty: Comment on phenotypes: Implica

15 Dec 2018, Gel status: 1

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)