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Test MOI validation panel - do not edit

Gene: CCDC47

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

0 reviews

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • OMIM test - has no OMIM gene ID in PanelApp
Clinvar variants
Variants in CCDC47
Penetrance
None
Panels with this gene

History Filter Activity

20 Oct 2020, Gel status: 3

Entity classified by Genomics England curator

Eleanor Williams (Genomics England Curator)

Gene: ccdc47 has been classified as Green List (High Evidence).

20 Oct 2020, Gel status: 1

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

Eleanor Williams (Genomics England Curator)

gene: CCDC47 was added gene: CCDC47 was added to TEST mode of inheritance validation panel. Sources: Literature Mode of inheritance for gene: CCDC47 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: CCDC47 were set to OMIM test - has no OMIM gene ID in PanelApp