Genes in panel

Ataxia and cerebellar anomalies - narrow panel

Gene: CLP1

Amber List (moderate 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)

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, 11:39 a.m. | Last Modified: 18 Feb 2021, 11:39 a.m.
Panel Version: 2.48
Comment on list classification: There is enough evidence for this gene to be rated GREEN at the next major review.
Created: 18 Feb 2021, 11:32 a.m. | Last Modified: 18 Feb 2021, 11:32 a.m.
Panel Version: 2.48

Publications

Zornitza Stark (Australian Genomics)

Green List (high evidence)

Pontocerebellar hypoplasia type 10 is an autosomal recessive neurodevelopmental and neurodegenerative disorder characterized by severely delayed psychomotor development, progressive microcephaly, spasticity, seizures, and brain abnormalities, including brain atrophy and delayed myelination. Some patients have dysmorphic features and an axonal sensorimotor neuropathy.

Multiple Turkish families reported with founder variant, p.Arg140His. Functional data, including mouse model.

Gene is rated Green on ID panel.
Created: 14 Feb 2021, 2:42 a.m. | Last Modified: 14 Feb 2021, 2:42 a.m.
Panel Version: 2.43

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Pontocerebellar hypoplasia, type 10, MIM# 615803

Publications

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
Phenotypes
  • Pontocerebellar hypoplasia 10 OMIM:615803
  • Pontocerebellar hypoplasia type 10 MONDO:0014349
Tags
founder-effect Q2_21_rating
OMIM
608757
Clinvar variants
Variants in CLP1
Penetrance
None
Publications
Panels with this gene

History Filter Activity

18 Feb 2021, Gel status: 2

Added Tag

Sarah Leigh (Genomics England Curator)

Tag Q2_21_rating tag was added to gene: CLP1.

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).

16 Feb 2021, Gel status: 1

Set Phenotypes

Sarah Leigh (Genomics England Curator)

Phenotypes for gene: CLP1 were changed from Pontocerebellar Hypoplasia; Pontocerebellar hypoplasia 10 OMIM:615803; Pontocerebellar hypoplasia type 10 MONDO:0014349 to Pontocerebellar hypoplasia 10 OMIM:615803; Pontocerebellar hypoplasia type 10 MONDO:0014349

16 Feb 2021, Gel status: 1

Set Phenotypes

Sarah Leigh (Genomics England Curator)

Phenotypes for gene: CLP1 were changed from Pontocerebellar Hypoplasia; Pontocerebellar hypoplasia 10 OMIM:615803 to Pontocerebellar Hypoplasia; Pontocerebellar hypoplasia 10 OMIM:615803; Pontocerebellar hypoplasia type 10 MONDO:0014349

16 Feb 2021, Gel status: 1

Added Tag

Sarah Leigh (Genomics England Curator)

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

16 Feb 2021, Gel status: 1

Set Phenotypes

Sarah Leigh (Genomics England Curator)

Phenotypes for gene: CLP1 were changed from Pontocerebellar Hypoplasia; Pontocerebellar hypoplasia 10 (#615803); Pontocerebellar Hypoplasia type 10 to Pontocerebellar Hypoplasia; Pontocerebellar hypoplasia 10 OMIM:615803

16 Feb 2021, Gel status: 1

Set publications

Sarah Leigh (Genomics England Curator)

Publications for gene: CLP1 were set to PMID: 24766810

9 Jan 2019, Gel status: 1

Panel promoted to version 1.0

Louise Daugherty (Genomics England Curator)

Rebecca Foulger: Comment on list classification

19 Dec 2018, Gel status: 1

Added New Source, Set Phenotypes, Status Update

Ellen McDonagh (Genomics England Curator)

Source Expert Review Red was added to CLP1. Added phenotypes Pontocerebellar hypoplasia 10 (#615803) for gene: CLP1 Rating Changed from Green List (high evidence) to Red List (low evidence)

19 Dec 2018, Gel status: 4

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

Ellen McDonagh (Genomics England Curator)

gene: CLP1 was added gene: CLP1 was added to Ataxia and cerebellar anomalies - narrow panel. Sources: Expert Review Green Mode of inheritance for gene: CLP1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: CLP1 were set to PMID: 24766810 Phenotypes for gene: CLP1 were set to Pontocerebellar Hypoplasia; Pontocerebellar Hypoplasia type 10