Genomics England

biglycan

Panel	Mode of inheritance	Details
Filter panels4 panels
Green in DDG2P Component of the following Super Panels: - Paediatric disorders Signed-off version 4.15	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Phenotypes Severe syndromic form of thoracic aortic aneurysm & dissection, X-Linked Spondyloepimetaphyseal Dysplasia
Green in Ehlers Danlos syndrome with a likely monogenic cause R-numbers: R101 Signed-off version 3.0	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	Phenotypes Meester-Loeys syndrome, OMIM:300989
Green in Fetal anomalies R-numbers: R21, R412 Signed-off version 4.195	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Phenotypes Severe syndromic form of thoracic aortic aneurysm & dissection, X-Linked Spondyloepimetaphyseal Dysplasia, Meester-Loeys syndrome, 300989, Spondyloepimetaphyseal dysplasia, X-linked, 300106
Green in Thoracic aortic aneurysm or dissection (GMS) R-numbers: R125 Signed-off version 3.0	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	Phenotypes X-linked syndromic TAAD, syndromic thoracic aortic aneurysm and dissection