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  2. Growth failure in early childhood
  3. CCDC8
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Growth failure in early childhood

Gene: CCDC8

Green List (high evidence)
CCDC8 (coiled-coil domain containing 8)
EnsemblGeneIds (GRCh38): ENSG00000169515
EnsemblGeneIds (GRCh37): ENSG00000169515
OMIM: 614145, Gene2Phenotype
CCDC8 is in 6 panels

2 reviews

Rebecca Foulger (Genomics England curator)

I don't know

Following discussion with members of the Endocrine Specialist Group at the Webex call on 23.05.19, it was agreed that CCDC8 should be included on the panel. Although most skeletal dysplasias are not included in this panel, 3M syndrome is a short stature condition in which skeletal features might be less prominent. Therefore kept rating as Green.
Created: 30 May 2019, 9:34 a.m.
Created: 30 May 2019, 9:34 a.m.

Panel version: 0.21

Ivone Leong (Genomics England Curator)

Green List (high evidence)

This gene is part of a consensus list for SRS/SRS-like testing provided by Frederic Brioude. Suggested initial gene rating: Green; Evidence for inclusion: none given; Evidence for exclusion: none given; Technical notes (e.g. non-coding/CNV mutations requiring coverage?): none given; Phenotypes: 3M.
Created: 14 May 2019, 1:25 p.m.

Phenotypes
3M

Created: 14 May 2019, 1:25 p.m.

Panel version: 0.17

Details

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

History Filter Activity

26 Mar 2024, Gel status: 3

Set Phenotypes

Arina Puzriakova (Genomics England Curator)

Phenotypes for gene: CCDC8 were changed from 3-M syndrome 3, 614205; 3M to 3-M syndrome 3, OMIM:614205

14 May 2019, Gel status: 4

Added New Source, Set Phenotypes

Ivone Leong (Genomics England Curator)

Source Expert list was added to CCDC8. Added phenotypes 3M for gene: CCDC8

14 Dec 2018, Gel status: 4

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

Ellen McDonagh (Genomics England Curator)

gene: CCDC8 was added gene: CCDC8 was added to Growth failure in early childhood. Sources: Expert Review Green 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, 614205