1. Panels
  2. DDG2P
  3. CLP1
Genes in panel
Prev Next
STRs in panel
Prev Next
Regions in panel
Prev Next

DDG2P

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

Achchuthan Shanmugasundram (Genomics England Curator)

Green List (high evidence)

The DDG2P confidence category, allelic requirement and molecular mechanism for CLP1-related pontocerebellar hypoplasia are strong, biallelic_autosomal and undetermined (PMID:24766809). More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P00820.
Created: 13 Feb 2026, 9:25 p.m. | Last Modified: 13 Feb 2026, 9:25 p.m.
Panel Version: 6.17
The DDG2P confidence category for the disease PONTOCEREBELLAR HYPOPLASIA, TYPE 10, OMIM:615803 is strong. The allelic requirement and mutation consequence are biallelic_autosomal and altered gene product structure (PMID:24766809).
Created: 4 Oct 2023, 5:08 p.m. | Last Modified: 4 Oct 2023, 5:08 p.m.
Panel Version: 3.12

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
PONTOCEREBELLAR HYPOPLASIA, TYPE 10, OMIM:615803; CLP1-related pontocerebellar hypoplasia; OMIM:615803.0; MONDO:0014349

Publications

Mode of pathogenicity
Other

Created: 4 Oct 2023, 5:08 p.m.
Last Modified: 4 Oct 2023, 5:08 p.m.
Panel version: 6.17

Eleanor Williams (Genomics England Curator)

Removed the GMS review tag. This gene is already green on the Intellectual disability panel which is also part of the Paediatric disorders superpanel so this gene will be represented there.

The DDG2P panel will shortly be updated as a whole to reflect the current Developmental Disorders panel in the Gene2Phenotype resource.
Created: 3 Aug 2022, 3:12 p.m. | Last Modified: 3 Aug 2022, 3:12 p.m.
Panel Version: 2.76
Created: 3 Aug 2022, 3:12 p.m.
Last Modified: 3 Aug 2022, 3:12 p.m.
Panel version: 2.76

Sarah Leigh (Genomics England Curator)

Green List (high evidence)

Comment on list classification: There is enough evidence for this gene to be rated GREEN at the next major review.
Created: 18 Feb 2021, 11:54 a.m. | Last Modified: 18 Feb 2021, 11:54 a.m.
Panel Version: 2.20
Associated with relevant phenotype in OMIM and as probable Gen2Phen gene. A single 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). Supportive functional studies and a mouse model were also reported.
Created: 18 Feb 2021, 11:53 a.m. | Last Modified: 18 Feb 2021, 11:53 a.m.
Panel Version: 2.19
Created: 18 Feb 2021, 11:53 a.m.
Last Modified: 18 Feb 2021, 11:53 a.m.
Panel version: 2.19

Rebecca Foulger (Genomics England curator)

I don't know

Original DDG2P rating: probable. DDG2P mode of pathogenicity: all missense/in frame.
Created: 19 Nov 2018, 11:29 a.m.
Created: 19 Nov 2018, 11:29 a.m.

Panel version: 0.2

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • DD-Gene2Phenotype
Phenotypes
  • Pontocerebellar hypoplasia 10 OMIM:615803
  • Pontocerebellar hypoplasia type 10 MONDO:0014349
Tags
founder-effect
OMIM
608757
Clinvar variants
Variants in CLP1
Penetrance
None
Publications
Panels with this gene

History Filter Activity

16 Feb 2026, Gel status: 3

Set mode of pathogenicity

Achchuthan Shanmugasundram (Genomics England Curator)

Mode of pathogenicity for gene: CLP1 was changed from Other to None

4 Oct 2023, Gel status: 3

Added New Source, Set mode of pathogenicity, Set publications, Status Update

Achchuthan Shanmugasundram (Genomics England Curator)

Source Expert Review Green was added to CLP1. Mode of pathogenicity for gene CLP1 was changed from Other - please provide details in the comments to Other Publications for gene: CLP1 were updated from 24766810; 24766809; 29307788 to 24766809; 24766810; 29307788 Rating Changed from Amber List (moderate evidence) to Green List (high evidence)

3 Aug 2022, Gel status: 2

Removed Tag

Eleanor Williams (Genomics England Curator)

Tag Q2_21_rating was removed from gene: CLP1.

18 Feb 2021, Gel status: 2

Set publications

Sarah Leigh (Genomics England Curator)

Publications for gene: CLP1 were set to 24766809

18 Feb 2021, Gel status: 2

Entity classified by Genomics England curator

Sarah Leigh (Genomics England Curator)

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

18 Feb 2021, Gel status: 2

Added Tag

Sarah Leigh (Genomics England Curator)

Tag Q2_21_rating tag was added to gene: CLP1.

16 Feb 2021, Gel status: 2

Set Phenotypes

Sarah Leigh (Genomics England Curator)

Phenotypes for gene: CLP1 were changed from PONTOCEREBELLAR HYPOPLASIA, TYPE 10 615803 to Pontocerebellar hypoplasia 10 OMIM:615803; Pontocerebellar hypoplasia type 10 MONDO:0014349

16 Feb 2021, Gel status: 2

Added Tag

Sarah Leigh (Genomics England Curator)

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

29 Jan 2019, Gel status: 2

Panel promoted to version 1.0

Rebecca Foulger (Genomics England curator)

Rebecca Foulger: Original DDG2P rating: probabl

19 Nov 2018, Gel status: 2

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

Rebecca Foulger (Genomics England curator)

gene: CLP1 was added gene: CLP1 was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype 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 PONTOCEREBELLAR HYPOPLASIA, TYPE 10 615803 Mode of pathogenicity for gene: CLP1 was set to Other - please provide details in the comments