Neonatal cholestasis
Gene: NOTCH2Comment on mode of inheritance: changed MOI to not imprinted from external clinical reviewsCreated: 25 Jul 2018, 2:35 p.m.
Comment on list classification: Minor cause of Alagille syndrome - variants found in ~1.5% of cases. >10 unrelated cases reported to date.Created: 25 Jul 2018, 12:20 p.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
cholestasis; Alagille syndrome
Variants in this GENE are reported as part of current diagnostic practice
We have not seen any pathogenic variants in our cohort of ~160 patients , but these were not necessarily Alagille referrals.Created: 4 Jun 2018, 1:22 p.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Variants in this GENE are reported as part of current diagnostic practice
This panel has been subjected to extensive internal and external review.
Mode of inheritance for gene: NOTCH2 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Gene: notch2 has been classified as Green List (High Evidence).
Gene: notch2 has been classified as Green List (High Evidence).
Publications for gene: NOTCH2 were set to 16773578; 22209762
Victorian Clinical Genetics Services was added to NOTCH2. Panel: Cholestasis
UKGTN was added to NOTCH2. Panel: Cholestasis Model of inheritance for gene NOTCH2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene NOTCH2 were set to Neonatal and Adult Cholestasis, Alagille syndrome 2
NOTCH2 was added to Cholestasis panel. Sources: Emory Genetics Laboratory
NOTCH2 was created by Ellen McDonagh