Clefting
Gene: CC2D2AComment on list classification: more than three unrelated cases where clefting has been reported in patients with Meckel syndrome caused by a variant in CC2DACreated: 31 May 2017, 1:22 p.m.
Comment on publications: Tallila et al. (2008) PMID: 18513680. Clefting is noted as less common feature. In 11 unrelated FInnish cases studies clefting was recorded in two unrelated cases, however the remaining 7 cases in the cohort were not noted as clefting not being present, it was just not reported.
Mougou-Zerelli et al. (2009) PMID:19777577 MKS cohort is a large multiethnic series of 120 fetuses reports 4 unrelated cases where clefting is reported
Created: 31 May 2017, 1:20 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Meckel syndrome 6, 612284
Panel reviews were assessed, and panel was revised according to reviews and further curation 31st May 2017
This gene has been classified as Green List (High Evidence).
Publications for CC2D2A were set to 18513680;19777577
Phenotypes for CC2D2A were set to Meckel syndrome 6, 612284; MKS6; Meckel-Gruber syndrome
Phenotypes for CC2D2A were set to Meckel syndrome 6, 612284; MKS6
CC2D2A was added to Cleftingpanel. Sources: Expert list
CC2D2A was created by LouiseD