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Skeletal dysplasia

Gene: CCDC40

Red List (low evidence)

CCDC40 (coiled-coil domain containing 40)
EnsemblGeneIds (GRCh38): ENSG00000141519
EnsemblGeneIds (GRCh37): ENSG00000141519
OMIM: 613799, Gene2Phenotype
CCDC40 is in 12 panels

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History Filter Activity

9 Aug 2016, Gel status: 1

panel promoted to version 1

Sarah Leigh (Genomics England Curator)

Promoted to version 1 9th August 2016

18 May 2016, Gel status: 1

Added New Source

Sarah Leigh (Genomics England Curator)

CCDC40 was added to Unexplained skeletal dysplasiapanel. Sources: Emory Genetics Laboratory

18 May 2016, Gel status: 0

Created

Sarah Leigh (Genomics England Curator)

CCDC40 was created by sleigh