1. Panels
  2. Renal Ciliopathies and Nephronophthisis
  3. CCDC28B
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Renal Ciliopathies and Nephronophthisis

Gene: CCDC28B

Red List (low evidence)
CCDC28B (coiled-coil domain containing 28B)
EnsemblGeneIds (GRCh38): ENSG00000160050
EnsemblGeneIds (GRCh37): ENSG00000160050
OMIM: 610162, Gene2Phenotype
CCDC28B is in 7 panels

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Red List (low evidence)

430C-T variant is postulated to be a modifier of BBS.
Created: 28 Dec 2019, 12:49 a.m. | Last Modified: 28 Dec 2019, 12:49 a.m.
Panel Version: 0.12

Mode of inheritance
Other

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

Created: 28 Dec 2019, 12:49 a.m.
Last Modified: 28 Dec 2019, 12:49 a.m.
Panel version: 0.12

Details

Mode of Inheritance
Other
Sources
  • Expert Review Red
  • KidGen_CilioNephronop v38.1.0
Phenotypes
  • {Bardet-Biedl syndrome 1, modifier of}, MIM#209900
OMIM
610162
Clinvar variants
Variants in CCDC28B
Penetrance
None
Panels with this gene

History Filter Activity

28 Dec 2019, Gel status: 1

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: ccdc28b has been classified as Red List (Low Evidence).

28 Dec 2019, Gel status: 1

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: CCDC28B were changed from to {Bardet-Biedl syndrome 1, modifier of}, MIM#209900

28 Dec 2019, Gel status: 1

Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Mode of inheritance for gene: CCDC28B was changed from Unknown to Other

28 Dec 2019, Gel status: 1

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: ccdc28b has been classified as Red List (Low Evidence).

17 Nov 2019, Gel status: 3

Created, Added New Source, Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: CCDC28B was added gene: CCDC28B was added to Renal ciliopathies and nephronophthisis_KidGen. Sources: Expert Review Green,KidGen_CilioNephronop v38.1.0 Mode of inheritance for gene: CCDC28B was set to Unknown