Cholestasis
Gene: NOTCH2
Comment when marking as ready: As discussed in the GMS Gastrohepatology Specialist Test Group webex call 14th Jan 2019: The Specialist Test Group agreed that there is enough evidence to rate this gene green.Created: 31 Jan 2019, 10:38 a.m.
Initial gene list and info collated by Miranda Durkie Sheffield Diagnostic Genetics Service December 2018 on behalf of the GMS Gastrohepatology specialist test group. Gene Symbol submitted: NOTCH2; Suggested intial gene rating: Green; Evidence for inclusion: none given; Evidence for exclusion: none given; Technical notes (e.g. non-coding/CNV mutations requiring coverage?): none givenCreated: 7 Jan 2019, 4:42 p.m.
Comment 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
Gene: notch2 has been classified as Green List (High Evidence).
Source Other was added to NOTCH2. Mode of inheritance for gene NOTCH2 was changed from to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Added phenotypes Alagille syndrome 2; Neonatal and Adult Cholestasis for gene: NOTCH2 Publications for gene NOTCH2 were changed from to 22209762; 16773578
Source Expert Review Green was added to NOTCH2. Rating Changed from Red List (low evidence) to Green List (high evidence)
gene: NOTCH2 was added gene: NOTCH2 was added to Cholestasis. Sources: NHS GMS Mode of inheritance for gene: NOTCH2 was set to