Clefting
Gene: NEDD4LComment on list classification: Changed status to green, enough evidence in literature from recent publication (PMID:27694961 April 2016), that gives evidence for 6 unrelated pro bands with the observed phenotype.Created: 8 Feb 2017, 7:24 p.m.
Comment on list classification: Changed status to green, enough evidence in literatureCreated: 8 Feb 2017, 7:20 p.m.
Comment on phenotypes: Periventricular nodular heterotopia-7 is a neurologic disorder characterized by abnormal neuronal migration during brain development resulting in delayed psychomotor development and intellectual disability; some patients may develop seizures. Other features include cleft palate and 2-3 toe syndactyly.Created: 8 Feb 2017, 7:18 p.m.
Comment on phenotypes: added disorder from OMIMCreated: 8 Feb 2017, 7:17 p.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Cleft palate, toe syndactyly, periventricular nodular heterotopia
Publications
Victorian Clinical Genetics Services was added to NEDD4L. Panel: Clefting Phenotypes for gene NEDD4L were set to Cleft palate, toe syndactyly, periventricular nodular heterotopia, Periventricular nodular heterotopia 7 (includes clefting), 617201, Cleft palate
Panel reviews were assessed, and panel was revised according to reviews and further curation 31st May 2017
Phenotypes for NEDD4L were set to Cleft palate, toe syndactyly, periventricular nodular heterotopia; Periventricular nodular heterotopia 7 (includes clefting), 617201
NEDD4L was added to Cleftingpanel. Sources: Literature
This gene has been classified as Green List (High Evidence).
This gene has been classified as Green List (High Evidence).
Phenotypes for NEDD4L were set to Cleft palate, toe syndactyly, periventricular nodular heterotopia; Periventricular nodular heterotopia 7, 617201
Phenotypes for NEDD4L were set to Cleft palate, toe syndactyly, periventricular nodular heterotopia; Periventricular nodular heterotopia 7, 617201
Publications for NEDD4L were set to 27694961
NEDD4L was added to Cleftingpanel. Sources: Expert Review
NEDD4L was created by Ushak