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Prepair 500+

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 8 panels

1 review

Andrew Coventry (Victorian Clinical Genetics Services)

Green List (high evidence)

Pontocerebellar hypoplasia type 10 is a very rare 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. Onset is typically prenatal/infancy. Phenotype is severe but intrafamilial phenotypic variation suggested due to variability of brain anomalies and clinical features.
Turkish family founder variant has been reported in literature: p.Arg140His. 21 individuals across ten families. Recent report of same founder variant identified in Sudanese family (PMID: 35719383)
Animal models present and functional studies conducted. Indicate LoF is mechanism of disease and causes accumulation of tRNA fragments, causing cell death pathway activation in neuronal cells.
Created: 2 Aug 2024, 10:55 a.m. | Last Modified: 2 Aug 2024, 10:55 a.m.
Panel Version: 1.76

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 Green
  • Mackenzie's Mission
Phenotypes
  • Pontocerebellar hypoplasia, type 10 MIM#615803
OMIM
608757
Clinvar variants
Variants in CLP1
Penetrance
None
Publications
Panels with this gene

History Filter Activity

30 Apr 2025, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

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

30 Apr 2025, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: CLP1 were changed from Pontocerebellar hypoplasia, type 10, 615803 (3) to Pontocerebellar hypoplasia, type 10 MIM#615803

30 Apr 2025, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: CLP1 were set to

3 Nov 2023, Gel status: 3

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

Seb Lunke (Victorian Clinical Genetics Services)

gene: CLP1 was added gene: CLP1 was added to Prepair 500+. Sources: Mackenzie's Mission,Expert Review Green Mode of inheritance for gene: CLP1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: CLP1 were set to Pontocerebellar hypoplasia, type 10, 615803 (3)