Arthrogryposis
Gene: CCDC47

CCDC47 (coiled-coil domain containing 47)
EnsemblGeneIds (GRCh38): ENSG00000108588
EnsemblGeneIds (GRCh37): ENSG00000108588
CCDC47 is in 3 panels

2 reviews

Achchuthan Shanmugasundram (Genomics England Curator)

The OMIM entry for this gene is OMIM:618260, which has been cross-checked with Ensembl, HGNC and G2P. Hence, gene-checked tag has been added.
Created: 16 Oct 2023, 8:21 p.m. | Last Modified: 16 Oct 2023, 8:21 p.m.

Panel Version: 5.17

Created: 16 Oct 2023, 8:21 p.m.
Last Modified: 16 Oct 2023, 8:21 p.m.
Panel version: 5.17

Rebecca Foulger (Genomics England curator)

I don't know

Added to Arthrogryposis panel as suggested by Zerin Hyder (Genomics England Clinical Team).
Created: 26 Nov 2019, 3:16 p.m. | Last Modified: 26 Nov 2019, 3:16 p.m.

Panel Version: 2.64

Created: 26 Nov 2019, 3:16 p.m.
Last Modified: 26 Nov 2019, 3:16 p.m.
Panel version: 2.64

Details

Sources

Expert Review Red

Phenotypes

Trichohepatoneurodevelopmental syndrome, OMIM:618268

Tags

gene-checked

Clinvar variants

Variants in CCDC47

Penetrance

None

Panels with this gene

History Filter Activity

2 Oct 2024, Gel status: 1

Set Phenotypes

Arina Puzriakova (Genomics England Curator)

Phenotypes for gene: CCDC47 were changed from to Trichohepatoneurodevelopmental syndrome, OMIM:618268

16 Oct 2023, Gel status: 1

Added Tag

Achchuthan Shanmugasundram (Genomics England Curator)

Tag gene-checked tag was added to gene: CCDC47.

26 Nov 2019, Gel status: 1

Created, Added New Source, Set mode of inheritance

Rebecca Foulger (Genomics England curator)

gene: CCDC47 was added gene: CCDC47 was added to Arthrogryposis. Sources: Expert Review Red Mode of inheritance for gene: CCDC47 was set to

Arthrogryposis Gene: CCDC47

2 reviews

Achchuthan Shanmugasundram (Genomics England Curator)

Created: 16 Oct 2023, 8:21 p.m. | Last Modified: 16 Oct 2023, 8:21 p.m.

Panel Version: 5.17