XYLT1

xylosyltransferase 1
OMIM: 608124, Gene2Phenotype

12 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 12 panels
Green XYLT1 in Skeletal Dysplasia_Fetal Level 2: Skeletal disorders Version 0.223	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Desbuquois dysplasia 2, MIM# 615777 Baratela-Scott syndrome
Green XYLT1 in Congenital Disorders of Glycosylation Level 2: Metabolic disorders Version 1.44 Component of the following Super Panels: Metabolic Disorders Superpanel Progressive Neurological Conditions	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Desbuquois dysplasia 2, MIM# 615777 Baratela-Scott syndrome Tags SV/CNV STR
Green XYLT1 in Mendeliome Version 1.1891	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Tags SV/CNV STR
Green XYLT1 in Short Long Bones with Advanced Carpal Bone Age Level 2: Skeletal disorders Version 0.1	review	Unknown	Sources Victorian Clinical Genetics Services Expert Review Green
Green XYLT1 in Intellectual disability syndromic and non-syndromic Level 2: Neurology and neurodevelopmental disorders Version 0.6063	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Phenotypes Desbuquois dysplasia 2, MIM# 615777 Baratela-Scott syndrome Tags SV/CNV STR
Green XYLT1 in Skeletal dysplasia Level 3: Skeletal dysplasias Level 2: Skeletal disorders Version 0.285	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Victorian Clinical Genetics Services 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 0.9	review	BIALLELIC, autosomal or pseudoautosomal	Sources Victorian Clinical Genetics Services Expert Review Green VCGS 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 0.109	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Desbuquois dysplasia 2, 615777 (3)
Green XYLT1 in Clefting disorders Level 3: Dysmorphic disorders Level 2: Dysmorphic and congenital abnormality syndromes Version 0.252	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes DESBUQUOIS DYSPLASIA 2 DBQD2
Green XYLT1 in Fetal anomalies Version 1.255	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genomics England PanelApp Expert list Phenotypes Desbuquois dysplasia 2, MIM# 615777 Baratela-Scott syndrome
Green XYLT1 in Prepair 1000+ Level 2: Screening Version 1.9	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Desbuquois dysplasia 2, 615777 (3)
Green DBQD2 STR in Repeat Disorders Version 0.167	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Phenotypes Desbuquois dysplasia 2 MIM#615777 Tags paediatric-onset