XYLT1

xylosyltransferase 1
OMIM: 608124, ClinGen, DECIPHER

14 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 14 panels
Green XYLT1 in Skeletal Dysplasia_Fetal Level 2: Skeletal disorders Version 0.246	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 1.83 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 1.4541	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Tags SV/CNV STR
Green XYLT1 in Intellectual disability syndromic and non-syndromic Level 2: Neurology and neurodevelopmental disorders Version 1.699	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 0.417	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 Mackenzie's Mission_Reproductive Carrier Screening Level 2: Screening Version 0.111	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 0.312	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes DESBUQUOIS DYSPLASIA 2 DBQD2
Green XYLT1 in Fetal anomalies Version 1.542	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 2.15	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 1.83 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 Mendeliome Version 1.4541	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Expert Review Green Expert list Phenotypes Desbuquois dysplasia 2 MIM#615777 Tags paediatric-onset
Green XYLT1_DBQD2_GGC STR in Intellectual disability syndromic and non-syndromic Level 2: Neurology and neurodevelopmental disorders Version 1.699	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 0.417	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 0.272	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Phenotypes Desbuquois dysplasia 2 MIM#615777 Tags paediatric-onset