Clefting

Gene: EPG5

Green List (high evidence)

Comment on list classification: Changed from Amber to Green, there is enough evidence to support clefting phenotype

Created: 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