Bardet Biedl syndrome

Gene: CCDC28B

Red List (low evidence)

CCDC28B (coiled-coil domain containing 28B)
EnsemblGeneIds (GRCh38): ENSG00000160050
EnsemblGeneIds (GRCh37): ENSG00000160050
OMIM: 610162, Gene2Phenotype
CCDC28B is in 15 panels

3 reviews

Beth Hoskins (Great Ormond Street Hospital)

I don't know

Ellen McDonagh (Genomics England Curator)

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

Caroline Wright (Genomics England Curator)

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

History Filter Activity

19 Feb 2019, Gel status: 1

Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes

Ivone Leong (Genomics England Curator)

gene: CCDC28B was added gene: CCDC28B was added to Bardet Biedl syndrome. Sources: Expert Review Red Mode of inheritance for gene: CCDC28B was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: CCDC28B were set to 23015189 Phenotypes for gene: CCDC28B were set to {Bardet-Biedl syndrome 1, modifier of}, 209900