BGN

biglycan
OMIM: 301870, Gene2Phenotype

6 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 6 panels
Green BGN in Aortopathy_Connective Tissue Disorders Level 2: Cardiovascular disorders Version 1.85	review	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Meester-Loeys syndrome, MIM# 300989
Green BGN in Incidentalome Version 0.301	review	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Green Victorian Clinical Genetics Services Victorian Clinical Genetics Services Phenotypes Meester-Loeys syndrome, MIM# 300989 Spondyloepimetaphyseal dysplasia, X-linked, MIM# 300106 Tags cardiac
Green BGN in Skeletal dysplasia Level 3: Skeletal dysplasias Level 2: Skeletal disorders Version 0.285	review	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Green Literature Expert list Phenotypes Spondyloepimetaphyseal dysplasia, X-linked - MIM# 300106
Green BGN in Mackenzie's Mission_Reproductive Carrier Screening Level 2: Screening Version 0.109	review	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Green Mackenzie's Mission Phenotypes Meester-Loeys syndrome, 300989 (3), X-linked
Red BGN in Fetal anomalies Version 1.255	review	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Red Genomics England PanelApp Phenotypes Spondyloepimetaphyseal dysplasia, X-linked, MIM# 300106
Green BGN in Prepair 1000+ Level 2: Screening Version 1.9	review	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Green Mackenzie's Mission Phenotypes Meester-Loeys syndrome (MIM#300989) Spondyloepimetaphyseal dysplasia, X-linked (MIM#300106)