Skeletal dysplasia
Gene: XYLT1
Dysplasias with nultiple joint dislocations gp of SD - severe growth retardation (short long bones). green - multiple reports; Review on behalf of Tracy Lester/Michael OldridgeCreated: 6 Mar 2019, 11:44 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Desbuquois dysplasia 2 615777
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: XYLT1; 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, 1:16 p.m.
Tier 1Created: 17 Jun 2016, 8:10 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Desbuquois dysplasia 2 615777; {Pseudoxanthoma elasticum, modifier of severity of} 264800
Variants in this GENE are reported as part of current diagnostic practice
Phenotypes for gene: XYLT1 were changed from Desbuquois dysplasia 2 615777; Desbuquois dysplasia 2 615777 to Desbuquois dysplasia 2, 615777
Added phenotypes Desbuquois dysplasia 2 615777 for gene: XYLT1
Source NHS GMS was added to XYLT1. Rating Changed from Green List (high evidence) to Green List (high evidence)
Promoted to version 1 9th August 2016
Phenotypes for XYLT1 were set to Desbuquois dysplasia 2 615777
Mode of inheritance for XYLT1 was changed to BIALLELIC, autosomal or pseudoautosomal
This gene has been classified as Green List (High Evidence).
XYLT1 was added to Unexplained skeletal dysplasiapanel. Sources:
XYLT1 was created by sleigh