Monogenic hearing loss
Gene: NOTCH1
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
#109730:Aortic valve disease 1[Bicuspid aortic valve; Male preponderance; Systolic ejection click]; #616028:Adams-Oliver syndrome 5[Aplasia cutis congenita of the scalpProminent veins of the scalp; Aplasia cutis congenita (rare); Tricuspid valve incompetencePulmonary valve stenosisMitral valve hypoplasiaMultiperforated patent foramen ovaleDilated right atriumRight ventricular hypertrophy; Pulmonary artery hypertensionPortal vein thrombosis (rare); Umbilical hernia (rare)Inguinal hernia (rare); Splenomegaly (rare)Hypersplenism (rare); Esophageal varices (rare)Hypertensive gastropathy (rare); Absent bone in areas of aplasia cutis congenita; Brachydactyly; BrachydactylySyndactyly; Cutis marmorata telangiectatica congenitaStrawberry neviMacular hemangiomaCavernous hemangioma; Hypoplastic or absent toenailsDystrophic toenails; Ischemic infarct of brainSagittal sinus thrombosisCortical venous thrombosesStructural abnormalities of cerebellumHypoplasia of dentate nucleusHigh signal intensities in periventricular white matterHigh signal intensities at gray/white matter junctionSeizures (rare)]
Publications
NOTCH1 was added to Congenital hearing impairment (Profound/Severe)panel. Sources: Expert