Hydrocephalus
Gene: CENPF
CENPF (centromere protein F)
EnsemblGeneIds (GRCh38): ENSG00000117724
EnsemblGeneIds (GRCh37): ENSG00000117724
OMIM: 600236, Gene2Phenotype
CENPF is in 16 panels
EnsemblGeneIds (GRCh38): ENSG00000117724
EnsemblGeneIds (GRCh37): ENSG00000117724
OMIM: 600236, Gene2Phenotype
CENPF is in 16 panels
2 reviews
Louise Daugherty (Genomics England Curator)
As discussed with the GMS Neurology Specialist Test Group webex call 11th July 2019: The Specialist Test Group all agreed that there is enough evidence to rate this gene GreenCreated: 29 Jul 2019, 2:49 p.m. | Last Modified: 29 Jul 2019, 2:49 p.m.
Panel Version: 1.34
Helen Brittain (Genomics England Curator)
Comment when marking as ready: 3 unrelated families previously considered acceptable on discussion with curation team, therefore include as phenotype includes hydrocephalus.Created: 4 May 2017, 8:49 a.m.
Comment on list classification: 3 unrelated families reported therefore borderline, but considered acceptable for inclusion.Created: 4 May 2017, 8:47 a.m.
Three unrelated families reported to date. Variable severity of phenotype but hydrocephalus is reported.Created: 27 Apr 2017, 1:27 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Stromme syndrome 243605
Publications
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- NHS GMS
- Expert Review Green
- Literature
- Phenotypes
-
- Stromme syndrome, OMIM:243605
- OMIM
- 600236
- Clinvar variants
- Variants in CENPF
- Penetrance
- Complete
- Publications
- Panels with this gene
-
- Ophthalmological ciliopathies
- Skeletal ciliopathies
- Intellectual disability
- Childhood onset dystonia, chorea or related movement disorder
- DDG2P
- Structural eye disease
- Severe microcephaly
- Hydrocephalus
- Respiratory ciliopathies including non-CF bronchiectasis
- Neurological ciliopathies
- Renal ciliopathies
- Limb disorders
- Primary ciliary disorders
- Fetal anomalies
- Rare multisystem ciliopathy disorders
- CAKUT
History Filter Activity
25 Mar 2021, Gel status: 3
Set Phenotypes
Ivone Leong (Genomics England Curator)Phenotypes for gene: CENPF were changed from Stromme syndrome 243605 to Stromme syndrome, OMIM:243605
29 Jul 2019, Gel status: 3
Added New Source
Louise Daugherty (Genomics England Curator)Source NHS GMS was added to CENPF.
31 May 2017, Gel status: 4
panel promoted to version 1
Ellen McDonagh (Genomics England Curator)31.05.2017 - panel revised after internal curation and clinical review.
4 May 2017, Gel status: 4
Gene classified by Genomics England curator
Helen Brittain (Genomics England Curator)This gene has been classified as Green List (High Evidence).
4 May 2017, Gel status: 4
Gene classified by Genomics England curator
Helen Brittain (Genomics England Curator)This gene has been classified as Green List (High Evidence).
27 Apr 2017, Gel status: 0
Created
Helen Brittain (Genomics England Curator)CENPF was created by helen.brittain
27 Apr 2017, Gel status: 0
Added New Source
Helen Brittain (Genomics England Curator)CENPF was added to Hydrocephaluspanel. Sources: Literature