Clefting
Gene: EPG5
Comment on list classification: Changed from Amber to Green, there is enough evidence to support clefting phenotypeCreated: 31 May 2017, 8:29 a.m.
Update from Clinical team. PMID 23222957 (18 patients from 15 families); One patient had cleft palate and two, from an unrelated family, had cleft lips. Although it is not a common feature, it has been reported in more than one in a diagnosis that is not abundant.
Created: 31 May 2017, 7:51 a.m.
Refer to clinical team for review- clefting only noted in 2 unrelated patients. General comment in review paper Byrne, et.al.(2016) PMID: 26927810 - 'Cleft lip and palate were a feature in Dionisi-Vici’s original siblings (PIMID:3344762) but have subsequently been seen only in few families, present in some children' so it is possible that clefting, although rare is observed in patients with Vici syndrome, but has not reported in the literature.Created: 29 May 2017, 12:36 p.m.
Comment on publications: Facial dysmorphism, including cleft lip and palate, high-arched palate, and micrognathia have been reported in most cases of Vici syndrome. Three cases (two unrelated patients) with mutations have clefts as a feature PMID: 3344762, 23222957.Created: 29 May 2017, 12:25 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Vici syndrome, 242840
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).
EPG5 was added to Cleftingpanel. Sources: UKGTN,Radboud University Medical Center, Nijmegen
Publications for EPG5 were set to 3344762; 23222957; 17163544; 20583151;26927810
Publications for EPG5 were set to 3344762; 23222957;17163544;20583151
EPG5 was added to Cleftingpanel. Sources: Expert list
EPG5 was created by LouiseD