XYLT1

xylosyltransferase 1
OMIM: 608124, Gene2Phenotype

15 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 15 panels
Green XYLT1 in Skeletal Dysplasia_Fetal Level 2: Skeletal disorders Version 0.239	1 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 1.78 Component of the following Super Panels: Metabolic Disorders Superpanel Progressive Neurological Conditions	1 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 1.3512	1 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	0 reviews	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 1.410	2 reviews	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 0.346	1 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	1 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 0.110	0 reviews	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 0.278	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes DESBUQUOIS DYSPLASIA 2 DBQD2
Green XYLT1 in Fetal anomalies Version 1.465	2 reviews	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 2.14	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Desbuquois dysplasia 2, MIM#615777
Green XYLT1_DBQD2_GGC STR in Congenital Disorders of Glycosylation Level 2: Metabolic disorders Version 1.78 Component of the following Super Panels: Metabolic Disorders Superpanel Progressive Neurological Conditions	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Desbuquois dysplasia 2 MIM#615777
Green XYLT1_DBQD2_GGC STR in Intellectual disability syndromic and non-syndromic Level 2: Neurology and neurodevelopmental disorders Version 1.410	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Desbuquois dysplasia 2 MIM#615777
Green XYLT1_DBQD2_GGC STR in Skeletal dysplasia Level 3: Skeletal dysplasias Level 2: Skeletal disorders Version 0.346	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Desbuquois dysplasia 2 MIM#615777
Green XYLT1_DBQD2_GGC STR in Repeat Disorders Version 0.269	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Phenotypes Desbuquois dysplasia 2 MIM#615777 Tags paediatric-onset