B4GALT7

beta-1,4-galactosyltransferase 7
OMIM: 604327, Gene2Phenotype

12 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 12 panels
Green B4GALT7 in Skeletal Dysplasia_Fetal Level 2: Skeletal disorders Version 0.239	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Expert list Phenotypes Ehlers-Danlos syndrome, spondylodysplastic type, 1-MIM#130070
Green B4GALT7 in Aortopathy_Connective Tissue Disorders Level 2: Cardiovascular disorders Version 1.100	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Phenotypes Ehlers-Danlos syndrome with short stature and limb anomalies, 130070 Spondylodysplastic EDS
Green B4GALT7 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 Ehlers-Danlos syndrome, spondylodysplastic type, 1, 130070 Tags founder
Green B4GALT7 in Mendeliome Version 1.3499	2 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Ehlers-Danlos syndrome, spondylodysplastic type, 1, MIM# 130070 Tags founder
Green B4GALT7 in Osteogenesis Imperfecta and Osteoporosis Level 2: Skeletal disorders Version 1.8	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Phenotypes Ehlers-Danlos syndrome, spondylodysplastic type, 1, MIM# 130070
Green B4GALT7 in Intellectual disability syndromic and non-syndromic Level 2: Neurology and neurodevelopmental disorders Version 1.398	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genetic Health Queensland Phenotypes Ehlers-Danlos syndrome, spondylodysplastic type, 1, MIM# 130070
Green B4GALT7 in Skeletal dysplasia Level 3: Skeletal dysplasias Level 2: Skeletal disorders Version 0.346	2 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green UKGTN Expert Review Green Radboud University Medical Center, Nijmegen NHS GMS Expert list Emory Genetics Laboratory Victorian Clinical Genetics Services Phenotypes Ehlers-Danlos syndrome with short stature and limb anomalies 130070
Green B4GALT7 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 Ehlers-Danlos syndrome, progeroid type, 1, 130070 (3)
Amber B4GALT7 in Clefting disorders Level 3: Dysmorphic disorders Level 2: Dysmorphic and congenital abnormality syndromes Version 0.278	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Phenotypes Ehlers-Danlos syndrome, spondylodysplastic type, 1, MIM# 130070
Green B4GALT7 in Fetal anomalies Version 1.465	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genomics England PanelApp Genetic Health Queensland Phenotypes Ehlers-Danlos syndrome, spondylodysplastic type, 1, MIM# 130070
Green B4GALT7 in Prepair 1000+ Level 2: Screening Version 2.14	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Ehlers-Danlos syndrome, spondylodysplastic type, 1, MIM# 130070 MONDO:0020682
Green B4GALT7 in Transplant Co-Morbidity Level 2: Screening Version 0.20	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Phenotypes Ehlers-Danlos syndrome, spondylodysplastic type, 1, MIM# 130070