Genes in panel
STRs in panel
Prev Next

Skeletal dysplasia

Gene: CCDC39

Red List (low evidence)

CCDC39 (coiled-coil domain containing 39)
EnsemblGeneIds (GRCh38): ENSG00000145075
EnsemblGeneIds (GRCh37): ENSG00000145075
OMIM: 613798, Gene2Phenotype
CCDC39 is in 11 panels

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

Over 20 unrelated families reported.
Created: 17 Oct 2020, 1:02 a.m. | Last Modified: 17 Oct 2020, 1:02 a.m.
Panel Version: 0.4985

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Ciliary dyskinesia, primary, 14, MIM# 613807

Publications

History Filter Activity

17 Dec 2019, Gel status: 1

Created, Added New Source, Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: CCDC39 was added gene: CCDC39 was added to Skeletal dysplasia. Sources: Emory Genetics Laboratory Mode of inheritance for gene: CCDC39 was set to