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  3. NOTCH1
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Monogenic hearing loss

Gene: NOTCH1

Red List (low evidence)
NOTCH1 (notch 1)
EnsemblGeneIds (GRCh38): ENSG00000148400
EnsemblGeneIds (GRCh37): ENSG00000148400
OMIM: 190198, Gene2Phenotype
NOTCH1 is in 11 panels

1 review

Jun Shen (Harvard Medical School)

Red List (low evidence)

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

Created: 7 Feb 2016, 8:52 a.m.

Panel version: 0.105

History Filter Activity

24 Jun 2015, Gel status: 0

Added New Source

Ellen McDonagh (Genomics England Curator)

NOTCH1 was added to Congenital hearing impairment (Profound/Severe)panel. Sources: Expert