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  3. CLP1
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Hereditary neuropathy or pain disorder

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

2 reviews

Sarah Leigh (Genomics England Curator)

Green List (high evidence)

The rating of this gene has been updated to green following NHS Genomic Medicine Service approval.
Created: 24 Feb 2025, 5:02 p.m. | Last Modified: 24 Feb 2025, 5:02 p.m.
Panel Version: 6.148
CLP1 has been associated with Pontocerebellar hypoplasia 10 OMIM:615803. A single CLP1 variant was reported in Turkish families who shared an 11.5 Mb haplotype in the CLP1 region, this did not suggest a recent ancestory amongst seemingly unrelated families (PMID 24766809; 24766810). Supportive functional studies and a mouse model were also reported (PMID: 24766809; 24766810; 23474986).
Created: 4 Nov 2024, 11:26 a.m. | Last Modified: 4 Nov 2024, 11:26 a.m.
Panel Version: 6.20

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Pontocerebellar hypoplasia 10 OMIM:615803; Pontocerebellar hypoplasia type 10 MONDO:0014349

Publications

Created: 4 Nov 2024, 11:26 a.m.
Last Modified: 4 Nov 2024, 11:26 a.m.
Panel version: 6.148

Alexander Rossor (UCL Institute of Neurology)

Green List (high evidence)

Multiple affected individuals with peripheral neuropathy on ncs
Sources: Expert list
Created: 19 Oct 2024, 10:04 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
pontocerbeelar hypoplasia, peripheral neuropathy

Publications

Created: 19 Oct 2024, 10:04 p.m.

Panel version: 5.19

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • NHS GMS
Phenotypes
  • Pontocerebellar hypoplasia 10 OMIM:615803
  • Pontocerebellar hypoplasia type 10 MONDO:0014349
OMIM
608757
Clinvar variants
Variants in CLP1
Penetrance
Complete
Publications
Panels with this gene

History Filter Activity

24 Feb 2025, Gel status: 3

Removed Tag, Removed Tag

Sarah Leigh (Genomics England Curator)

Tag Q3_24_promote_green was removed from gene: CLP1. Tag Q3_24_NHS_review was removed from gene: CLP1.

24 Feb 2025, Gel status: 3

Added New Source, Added New Source, Status Update

Sarah Leigh (Genomics England Curator)

Source NHS GMS was added to CLP1. Source Expert Review Green was added to CLP1. Rating Changed from Amber List (moderate evidence) to Green List (high evidence)

4 Nov 2024, Gel status: 2

Set Phenotypes

Sarah Leigh (Genomics England Curator)

Phenotypes for gene: CLP1 were changed from pontocerbeelar hypoplasia, peripheral neuropathy to Pontocerebellar hypoplasia 10 OMIM:615803; Pontocerebellar hypoplasia type 10 MONDO:0014349

4 Nov 2024, Gel status: 2

Added Tag, Added Tag

Sarah Leigh (Genomics England Curator)

Tag Q3_24_promote_green tag was added to gene: CLP1. Tag Q3_24_NHS_review tag was added to gene: CLP1.

4 Nov 2024, Gel status: 2

Entity classified by Genomics England curator

Sarah Leigh (Genomics England Curator)

Gene: clp1 has been classified as Amber List (Moderate Evidence).

19 Oct 2024, Gel status: 0

Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes, Set penetrance

Alexander Rossor (UCL Institute of Neurology)

gene: CLP1 was added gene: CLP1 was added to Hereditary neuropathy or pain disorder. Sources: Expert list Mode of inheritance for gene: CLP1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: CLP1 were set to 24766809 Phenotypes for gene: CLP1 were set to pontocerbeelar hypoplasia, peripheral neuropathy Penetrance for gene: CLP1 were set to Complete Review for gene: CLP1 was set to GREEN