Clefting

Gene: DIS3L2

Red List (low evidence)

Update from Clinical team. Not a clear feature of the syndrome and it is represented on more appropriate panels (It is a Green gene on the Paediatric congenital malformation-dysmorphism-tumour v1.14 for example).

Created: 31 May 2017, 7:35 a.m.

Comment on publications: Associated with phenotype in OMIM and G2P. Numerous variants reported.

Created: 29 May 2017, 10:33 a.m.

Clefting not a key feature.Characteristic facial dysmorphisms are inverted V-shaped upper lip, prominent forehead, deep-set eyes, broad and flat nasal bridge, and low-set ears. Only one case reported (1999) with a cleft palate PMID: 10508986. Refer to clinical team for review for further discussion

Created: 26 May 2017, 1:40 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Perlman syndrome, 267000