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Limb disorders

Gene: CCDC28B

Red List (low evidence)

CCDC28B (coiled-coil domain containing 28B)
EnsemblGeneIds (GRCh38): ENSG00000160050
EnsemblGeneIds (GRCh37): ENSG00000160050
OMIM: 610162, Gene2Phenotype
CCDC28B is in 14 panels

1 review

Eleanor Williams (Genomics England Curator)

Red List (low evidence)

Adding gene as red as it is red on the GMS Bardet Biedl syndrome panel (v1.0).
Modifier gene
Sources: Literature
Created: 25 Nov 2019, 10:25 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

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

Publications

History Filter Activity

25 Nov 2019, Gel status: 1

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

Eleanor Williams (Genomics England Curator)

gene: CCDC28B was added gene: CCDC28B was added to Limb disorders. Sources: Literature 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 Review for gene: CCDC28B was set to RED