Clefting
Gene: SUMO1Comment on publications: added publication suggested by reviewerCreated: 8 Feb 2017, 2:38 p.m.
Comment on list classification: Demoted gene from Amber to Red status due to expert review comments and evidence in paper 22492558Created: 19 Dec 2016, 4:39 p.m.
Several studies have reported an association with cleft lip and some find no association. A Sanger sequencing study in a cohort of cleft lip and palate patients did not find any evidence for causal mutations. An early report found a low penetrance of cleft palate in a genetrap mouse model. Subsequent studies which have included a constitutive knockout, another genetrap and regeneration of the original genetrap, all failed to demonstrate a cleft palate phenotype.Created: 14 Dec 2016, 3:27 p.m.
Mode of inheritance
Unknown
Publications
Mode of pathogenicity
Other
Polymorphisms increase risk of cleftingCreated: 8 Dec 2016, 9:49 a.m.
Panel reviews were assessed, and panel was revised according to reviews and further curation 31st May 2017
Publications for SUMO1 were set to 22492558
This gene has been classified as Red List (Low Evidence).
SUMO1 was added to Cleftingpanel. Source: Illumina TruGenome Clinical Sequencing Services Model of inheritance for gene SUMO1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
SUMO1 was added to Cleftingpanel. Sources: Radboud University Medical Center, Nijmegen
SUMO1 was created by oniblock