Research panel - Severe Paediatric Disorders
Gene: CLP1

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)

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, 12:02 p.m. | Last Modified: 18 Feb 2021, 12:02 p.m.

Panel Version: 1.61

Publications

Created: 18 Feb 2021, 12:02 p.m.
Last Modified: 18 Feb 2021, 12:02 p.m.
Panel version: 1.61

Louise Daugherty (Genomics England Curator)

I don't know

Initial gene list (NGC_genelist-20190823_GREEN_dis_moi_forCuration_20200211.xlsx) collated by Dr Courtney French (University of Cambridge University Hospital NHS Foundation), Dr Karyn Megy (Clinical Feedback Lead, NIHR BioResource - Rare Diseases Study, University of Cambridge University Hospital NHS Foundation), Dr Alba Sanchis-Juan (NIHR BioResource - Rare Diseases Study, University of Cambridge University Hospital NHS Foundation) and Lucy Raymond (Professor of Medical Genetics and Neurodevelopment, University of Cambridge University Hospital NHS Foundation). Submitted to the PanelApp resource January 2020 on behalf of the Next Generation Children Project, Addenbrookes' Hospital, Cambridge. Gene Symbol submitted: CLP1; Recommended initial gene rating: Green List (high evidence); Phenotypes: Pontocerebellar hypoplasia, type 10, 615803 (3); Mode of inheritance: Autosomal recessive
Created: 20 Feb 2020, 5:17 p.m. | Last Modified: 20 Feb 2020, 5:17 p.m.

Panel Version: 0.12

Created: 20 Feb 2020, 5:17 p.m.
Last Modified: 20 Feb 2020, 5:17 p.m.
Panel version: 0.12

Details

Mode of Inheritance

BIALLELIC, autosomal or pseudoautosomal

Sources

Next Generation Children Project
Expert Review Green
Expert list

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

18 Feb 2021, Gel status: 3

Set publications

Sarah Leigh (Genomics England Curator)

Publications for gene: CLP1 were set to 30847515

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

16 Feb 2021, Gel status: 3

Added Tag

Sarah Leigh (Genomics England Curator)

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

21 Feb 2020, Gel status: 3