Skeletal dysplasia
Gene: SMAD4
Acromelic dysplasias gp of SD - several cases; Review on behalf of Tracy LesterCreated: 6 Mar 2019, 11:44 a.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Myhre syndrome 139210
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: SMAD4; Initial rating suggestion: greenCreated: 6 Mar 2019, 11:37 a.m.
Comment on list classification: Used diagnostically by Ana Beleza (Guy's and St Thomas' NHS Foundation Trust)Created: 21 Jun 2016, 1:09 p.m.
Tier 1Created: 17 Jun 2016, 8:08 a.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome 175050; Myhre syndrome 139210; Pancreatic cancer, somatic 260350; Polyposis, juvenile intestinal 174900
Variants in this GENE are reported as part of current diagnostic practice
Added phenotypes Myhre syndrome 139210 for gene: SMAD4
Source NHS GMS was added to SMAD4. Rating Changed from Green List (high evidence) to Green List (high evidence)
Promoted to version 1 9th August 2016
Phenotypes for SMAD4 were set to Myhre syndrome 139210
Mode of inheritance for SMAD4 was changed to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
This gene has been classified as Green List (High Evidence).
SMAD4 was added to Unexplained skeletal dysplasiapanel. Sources:
SMAD4 was created by sleigh