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Intellectual disability

Gene: CENPF

Green List (high evidence)

CENPF (centromere protein F)
EnsemblGeneIds (GRCh38): ENSG00000117724
EnsemblGeneIds (GRCh37): ENSG00000117724
OMIM: 600236, Gene2Phenotype
CENPF is in 14 panels

1 review

Ellen McDonagh (Genomics England Curator)

Comment on list classification: Confirmed with Richard Scott that this gene should be green.
Created: 11 Jul 2017, 2:08 p.m.
Sourced from OMIM and Orphanet. Included as green on the Hydrocephalus Version 1.2, Primary Microcephaly - Microcephalic Dwarfism Spectrum Version 1.6, Rare multisystem ciliopathy disorders Version 1.28.
Created: 11 Jul 2017, 12:27 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Stromme syndrome 243605; Lethal fetal brain malformation-duodenal atresia-bilateral renal hypoplasia syndrome

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Victorian Clinical Genetics Services
  • Expert Review Green
  • Other
Phenotypes
  • Stromme syndrome 243605
  • Lethal fetal brain malformation-duodenal atresia-bilateral renal hypoplasia syndrome
OMIM
600236
Clinvar variants
Variants in CENPF
Penetrance
Complete
Panels with this gene

History Filter Activity

28 Sep 2018, Gel status: 4

Added New Source

Louise Daugherty (Genomics England Curator)

Source Victorian Clinical Genetics Services was added to CENPF.

12 Mar 2018, Gel status: 3

Panel promoted to version 2.0

Ellen McDonagh (Genomics England Curator)

12.03.2018: Due to major updates completed (Phase 1, 2 and 3), this panel was promoted to Version 2 in order to reflect the major updates since November 2017 which have resulted in reviews for 836 genes added by Genomics England Curators and the Clinical Team, 130 new Green genes added to the interpretation pipeline (from 751 to 881 Green genes), and the gene total has increased from 1879 to 1927.

11 Jul 2017, Gel status: 4

Gene classified by Genomics England curator

Ellen McDonagh (Genomics England Curator)

This gene has been classified as Green List (High Evidence).

11 Jul 2017, Gel status: 0

Created

Ellen McDonagh (Genomics England Curator)

CENPF was created by ellenmcdonagh

11 Jul 2017, Gel status: 0

Added New Source

Ellen McDonagh (Genomics England Curator)

CENPF was added to Intellectual disabilitypanel. Sources: Other