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  3. CCDC8
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Skeletal Dysplasia_Fetal

Gene: CCDC8

Green List (high evidence)
CCDC8 (coiled-coil domain containing 8)
EnsemblGeneIds (GRCh38): ENSG00000169515
EnsemblGeneIds (GRCh37): ENSG00000169515
OMIM: 614145, Gene2Phenotype
CCDC8 is in 9 panels

1 review

Krithika Murali (Victorian Clinical Genetics Services)

Green List (high evidence)

Severe short stature with relative macrocephaly/preserved HC noted antenatally and at birth.
Sources: Literature, Expert list
Created: 13 Oct 2022, 6:03 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
3-M syndrome 3 - MIM#614205

Publications

Created: 13 Oct 2022, 6:03 a.m.

Panel version: 0.140

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert list
  • Literature
Phenotypes
  • 3-M syndrome 3 - MIM#614205
OMIM
614145
Clinvar variants
Variants in CCDC8
Penetrance
None
Publications
Panels with this gene

History Filter Activity

14 Oct 2022, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: ccdc8 has been classified as Green List (High Evidence).

14 Oct 2022, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: ccdc8 has been classified as Green List (High Evidence).

13 Oct 2022, Gel status: 0

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

Krithika Murali (Victorian Clinical Genetics Services)

gene: CCDC8 was added gene: CCDC8 was added to Skeletal Dysplasia_Fetal. Sources: Literature,Expert list Mode of inheritance for gene: CCDC8 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: CCDC8 were set to 21737058 Phenotypes for gene: CCDC8 were set to 3-M syndrome 3 - MIM#614205 Review for gene: CCDC8 was set to GREEN