Growth failure in early childhood
Gene: CCDC8
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.
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
Phenotypes for gene: CCDC8 were changed from 3-M syndrome 3, 614205; 3M to 3-M syndrome 3, OMIM:614205
Source Expert list was added to CCDC8. Added phenotypes 3M for gene: CCDC8
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