XYLT1:Ensemblv115

xylosyltransferase 1
OMIM: 608124, ClinGen, DECIPHER

8 panels

Panel Reviews Mode of inheritance Details
8 panels

Green XYLT1 in Skeletal Dysplasia_Fetal


Level 2: Skeletal disorders
Version 1.0

1 review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Literature
  • Expert Review Green
Phenotypes
  • Desbuquois dysplasia 2, MIM# 615777
  • Baratela-Scott syndrome

Green XYLT1 in Congenital Disorders of Glycosylation


Level 2: Metabolic disorders
Version 2.0

1 review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Victorian Clinical Genetics Services
  • Expert Review Green
Phenotypes
  • Desbuquois dysplasia 2, MIM# 615777
  • Baratela-Scott syndrome
Tags
  • SV/CNV
  • STR

Green XYLT1 in Short Long Bones with Advanced Carpal Bone Age


Level 2: Skeletal disorders
Version 1.0

0 reviews Unknown
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services

Green XYLT1 in Skeletal dysplasia

Level 3: Skeletal dysplasias
Level 2: Skeletal disorders
Version 1.0

1 review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Victorian Clinical Genetics Services
  • NHS GMS
  • Expert Review Green
Phenotypes
  • Desbuquois dysplasia 2 615777
  • Desbuquois dysplasia 2 615777

Green XYLT1 in Multiple joint dislocations and laxity

Level 3: Skeletal dysplasias
Level 2: Skeletal disorders
Version 1.0

1 review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Victorian Clinical Genetics Services
  • VCGS Expert Review Green
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • DESBUQUOIS DYSPLASIA 2 615777

Green XYLT1 in Mackenzie's Mission_Reproductive Carrier Screening


Level 2: Screening
Version 1.0

0 reviews BIALLELIC, autosomal or pseudoautosomal
Sources
  • Mackenzie's Mission
  • Expert Review Green
Phenotypes
  • Desbuquois dysplasia 2, 615777 (3)

Green XYLT1 in Clefting disorders

Level 3: Dysmorphic disorders
Level 2: Dysmorphic and congenital abnormality syndromes
Version 1.0

0 reviews BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • DESBUQUOIS DYSPLASIA 2
  • DBQD2

Green XYLT1 in Prepair 1000+


Level 2: Screening
Version 3.0

1 review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Mackenzie's Mission
  • Expert Review Green
Phenotypes
  • Desbuquois dysplasia 2, MIM#615777