Bardet-Biedl Syndrome
Gene: CCDC28B

CCDC28B (coiled-coil domain containing 28B)
EnsemblGeneIds (GRCh38): ENSG00000160050
EnsemblGeneIds (GRCh37): ENSG00000160050
OMIM: 610162, Gene2Phenotype
CCDC28B is in 12 panels

2 reviews

Beth Hoskins (Great Ormond Street Hospital)

I don't know

Created: 5 Nov 2017, 2:37 a.m.

Panel version: 0

Caroline Wright (Genomics England Curator)

Comment when marking as ready: OMIM: likely modifier, one patient only
Created: 17 Dec 2015, 2:14 p.m.

Created: 17 Dec 2015, 2:14 p.m.

Panel version: 0.5

Details

Sources

Expert Review Red
Radboud University Medical Center, Nijmegen

Phenotypes

{Bardet‐Biedl syndrome, modifier of}

OMIM

610162

Clinvar variants

Variants in CCDC28B

Penetrance

Complete

Panels with this gene

History Filter Activity

17 Dec 2015, Gel status: 1

Gene classified by Genomics England curator

Caroline Wright (Genomics England Curator)

This gene has been classified as Red List (Low Evidence).

28 Apr 2015, Gel status: 1

Added New Source

GEL ()

CCDC28B was added to Bardet-Biedl Syndrome panel. Sources: Radboud University Medical Center, Nijmegen

Bardet-Biedl Syndrome Gene: CCDC28B