Clefting
Gene: SPECC1L
Two reported families but functional work also undertakenCreated: 26 May 2017, 7:39 a.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
OPITZ GBBB SYNDROME, TYPE II; GBBB2
Comment on publications: added missing publiactionsCreated: 18 Jul 2018, 4:57 p.m.
Comment on phenotypes: Currently not enough evidence, there is only one case for Oblique facial clefting-1 (PMID: 21703590) and for GBBB syndrome ll there are only two unrelated cases (PMID: 1897571; 8849002)Created: 8 Feb 2017, 4:24 p.m.
Phenotypes
Oblique facial clefts
Publications for gene: SPECC1L were set to 1897571; 8849002; 21703590; 25412741
Panel reviews were assessed, and panel was revised according to reviews and further curation 31st May 2017
SPECC1L was added to Cleftingpanel. Source: Expert Review Green Model of inheritance for gene SPECC1L was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for SPECC1L were set to ?Facial clefting, oblique, 1, 600251; Opitz GBBB syndrome, type II (with clefting), 145410
Phenotypes for SPECC1L were set to ?Facial clefting, oblique, 1, 600251; Opitz GBBB syndrome, type II (with clefting), 145410
SPECC1L was added to Cleftingpanel. Sources: Radboud University Medical Center, Nijmegen
SPECC1L was created by oniblock