Skeletal dysplasia
Gene: SLC35D1
Severe spondylodysplastic dysplasias gp of SD. >3 cases; Review on behalf of Tracy LesterCreated: 6 Mar 2019, 11:44 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Schneckenbecken dysplasia 269250
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: SLC35D1; 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
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Schneckenbecken dysplasia 269250
Variants in this GENE are reported as part of current diagnostic practice
Added phenotypes Schneckenbecken dysplasia 269250 for gene: SLC35D1
Source NHS GMS was added to SLC35D1. Rating Changed from Green List (high evidence) to Green List (high evidence)
Promoted to version 1 9th August 2016
Mode of inheritance for SLC35D1 was changed to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for SLC35D1 were set to Schneckenbecken dysplasia 269250
This gene has been classified as Green List (High Evidence).
SLC35D1 was added to Unexplained skeletal dysplasiapanel. Sources:
SLC35D1 was created by sleigh