Hydrocephalus

Gene: CENPF

Green List (high evidence)

CENPF (centromere protein F)
EnsemblGeneIds (GRCh38): ENSG00000117724
EnsemblGeneIds (GRCh37): ENSG00000117724
OMIM: 600236, Gene2Phenotype
CENPF is in 13 panels

2 reviews

Louise Daugherty (Genomics England Curator)

I don't know

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 Green
Created: 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)

I don't know

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

History Filter Activity

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