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Fetal anomalies

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

Zornitza Stark (Victorian Clinical Genetics Services; 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.
Created: 14 Feb 2021, 2:47 a.m. | Last Modified: 14 Feb 2021, 2:47 a.m.
Panel Version: 0.3446

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
  • Genomics England PanelApp
  • Genetic Health Queensland
Phenotypes
  • Pontocerebellar hypoplasia, type 10, OMIM:615803
  • Pontocerebellar hypoplasia type 10, MONDO:0014349
OMIM
608757
Clinvar variants
Variants in CLP1
Penetrance
None
Publications
Panels with this gene

History Filter Activity

14 Dec 2021, 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).

14 Dec 2021, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: CLP1 were set to

14 Dec 2021, 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).

24 Oct 2021, Gel status: 2

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

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: CLP1 was added gene: CLP1 was added to Fetal anomalies. Sources: Expert Review Amber,Genomics England PanelApp Mode of inheritance for gene: CLP1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: CLP1 were set to Pontocerebellar hypoplasia, type 10, OMIM:615803; Pontocerebellar hypoplasia type 10, MONDO:0014349