Skeletal dysplasia
Gene: NOTCH2
Osteolysis gp of SD, at least 3 cases reported.; Review on behalf of Tracy LesterCreated: 6 Mar 2019, 11:44 a.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Alagille syndrome 2 610205; Hajdu-Cheney (Serpentine fibula polycystic kidney) syndrome 102500
This gene was part of an initial gene list collated by Tracy Lester, Oxford Medical Genetics Laboratories, Oxford University Hospitals NHS Foundation Trust, February 2019 on behalf of the GMS Musculoskeletal Specialist Group; Gene symbol submitted: NOTCH2; Initial rating suggestion: greenCreated: 6 Mar 2019, 11:36 a.m.
Listed as associated with Skeletal Dysplasia by Gene Advisor (June 2016), Steve AbbsCreated: 27 Jul 2016, 9:49 a.m.
Tier 2Created: 17 Jun 2016, 8:06 a.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Alagille syndrome 2 610205; Hajdu-Cheney (Serpentine fibula polycystic kidney) syndrome 102500
Variants in this GENE are reported as part of current diagnostic practice
Added phenotypes Hajdu-Cheney (Serpentine fibula polycystic kidney) syndrome 102500; Alagille syndrome 2 610205 for gene: NOTCH2
Source NHS GMS was added to NOTCH2. Rating Changed from Green List (high evidence) to Green List (high evidence)
Promoted to version 1 9th August 2016
Phenotypes for NOTCH2 were set to Alagille syndrome 2 610205; Hajdu-Cheney (Serpentine fibula polycystic kidney) syndrome 102500
NOTCH2 was added to Unexplained skeletal dysplasiapanel. Source: Emory Genetics Laboratory NOTCH2 was added to Unexplained skeletal dysplasiapanel. Source: Expert Review Green Model of inheritance for gene NOTCH2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
NOTCH2 was added to Unexplained skeletal dysplasiapanel. Sources:
NOTCH2 was created by sleigh