B3GALT6

beta-1,3-galactosyltransferase 6
OMIM: 615291, ClinGen, DECIPHER

13 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 13 panels
Green B3GALT6 in Aortopathy_Connective Tissue Disorders Level 2: Cardiovascular disorders Version 1.86	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Phenotypes Ehlers Danlos syndrome, progeroid type, 2, 615349 Spondylodysplastic EDS
Amber B3GALT6 in Arthrogryposis Level 2: Neurology and neurodevelopmental disorders Version 0.416	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Expert list Phenotypes Al-Gazali syndrome, OMIM #609465
Green B3GALT6 in Congenital Disorders of Glycosylation Level 2: Metabolic disorders Version 1.58 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 Al-Gazali syndrome, MIM# 609465 Ehlers-Danlos syndrome, spondylodysplastic type, 2, MIM# 615349, MONDO:0014139 Spondyloepimetaphyseal dysplasia with joint laxity, type 1, with or without fractures, MIM# 271640, MONDO:0010075
Green B3GALT6 in Mendeliome Version 1.2302	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Al-Gazali syndrome, MIM# 609465 Ehlers-Danlos syndrome, spondylodysplastic type, 2, MIM# 615349, MONDO:0014139 Spondyloepimetaphyseal dysplasia with joint laxity, type 1, with or without fractures, MIM# 271640, MONDO:0010075
Green B3GALT6 in Osteogenesis Imperfecta and Osteoporosis Level 2: Skeletal disorders Version 1.0	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Spondyloepimetaphyseal dysplasia with joint laxity, type 1, with or without fractures, MIM# 271640, MONDO:0010075
Amber B3GALT6 in Intellectual disability syndromic and non-syndromic Level 2: Neurology and neurodevelopmental disorders Version 1.63	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Genetic Health Queensland Phenotypes Ehlers-Danlos syndrome, spondylodysplastic type, 2, MIM#615349 Spondyloepimetaphyseal dysplasia with joint laxity, type 1, with or without fractures, MIM#271640
Green B3GALT6 in Skeletal dysplasia Level 3: Skeletal dysplasias Level 2: Skeletal disorders Version 0.302	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert Review Green NHS GMS Emory Genetics Laboratory Victorian Clinical Genetics Services Phenotypes Ehlers-Danlos syndrome, progeroid type, 2 615349 Spondyloepimetaphyseal dysplasia with joint laxity, type 1, with or without fractures 271640
Green B3GALT6 in Multiple joint dislocations and laxity Level 3: Skeletal dysplasias Level 2: Skeletal disorders Version 0.9	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Emory Genetics Laboratory NHS GMS Expert Review Green Victorian Clinical Genetics Services Phenotypes Ehlers-Danlos syndrome, progeroid type, 2 615349 Spondyloepimetaphyseal dysplasia with joint laxity, type 1, with or without fractures 271640
Green B3GALT6 in Mackenzie's Mission_Reproductive Carrier Screening Level 2: Screening Version 0.109	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Spondyloepimetaphyseal dysplasia with joint laxity, type 1, with or without fractures, 271640 (3)
Amber B3GALT6 in Clefting disorders Level 3: Dysmorphic disorders Level 2: Dysmorphic and congenital abnormality syndromes Version 0.260	0 reviews	Unknown	Sources Expert Review Amber Phenotypes SPONDYLOEPIMETAPHYSEAL DYSPLASIA WITH JOINT LAXITY, TYPE 1, WITH OR WITHOUT FRACTURES Ehlers-Danlos syndrome, progeroid type, 2 615349 SEMDJL1
Green B3GALT6 in Fetal anomalies Version 1.313	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genomics England PanelApp Genetic Health Queensland Phenotypes Al-Gazali syndrome, MIM# 609465 Ehlers-Danlos syndrome, spondylodysplastic type, 2, MIM#615349 Spondyloepimetaphyseal dysplasia with joint laxity, type 1, with or without fractures, MIM#271640
Green B3GALT6 in Prepair 1000+ Level 2: Screening Version 1.1566	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Al-Gazali syndrome, MIM# 609465 Ehlers-Danlos syndrome, spondylodysplastic type, 2, MIM# 615349 Spondyloepimetaphyseal dysplasia with joint laxity, type 1, with or without fractures, MIM#271640
Green B3GALT6 in Transplant Co-Morbidity Superpanel Level 2: Screening Version 0.18	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Spondyloepimetaphyseal dysplasia with joint laxity, type 1, with or without fractures, MIM# 271640, MONDO:0010075