Rare multisystem ciliopathy disorders
Gene: CCDC28B

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

3 reviews

Beth Hoskins (Great Ormond Street Hospital)

I don't know

Created: 5 Nov 2017, 2:44 a.m.

Panel version: Imported from "Bardet-Biedl Syndrome" panel version 0

Ellen McDonagh (Genomics England Curator)

Comment on list classification: Modifier gene.
Created: 12 Dec 2016, 12:45 p.m.

Created: 12 Dec 2016, 12:45 p.m.

Panel version: 0.362

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: Imported from "Bardet-Biedl Syndrome" panel version 0.5

Details

Mode of Inheritance

BIALLELIC, autosomal or pseudoautosomal

Sources

Expert Review Red
UKGTN
Emory Genetics Laboratory
Radboud University Medical Center, Nijmegen
Expert list

Phenotypes

{Bardet-Biedl syndrome 1, modifier of}, 209900
ciliopathies

OMIM

610162

Clinvar variants

Variants in CCDC28B

Penetrance

Complete

Publications

23015189

Panels with this gene

History Filter Activity

26 Jan 2017, Gel status: 1

panel promoted to version 1

Alice Gardham (Genomics England)

Promoted to version 1 by Alice Gardham on 26th January 2017

19 Dec 2016, Gel status: 1

Gene classified by Genomics England curator

Richard Scott (Genomics England Curator)

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

19 Dec 2016, Gel status: 1

Gene classified by Genomics England curator

Richard Scott (Genomics England Curator)

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

12 Dec 2016, Gel status: 2