BGN

biglycan
OMIM: 301870, Gene2Phenotype

8 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 8 panels
Red BGN in ClinGen_Familial thoracic aortic aneurysm and aortic dissection Version 0.11	review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources ClinGen Expert Review Red Phenotypes Familial thoracic aortic aneurysm and aortic dissection
Green BGN in Thoracic aortic aneurysm or dissection (GMS) Version 3.11 Latest signed off version: v3.0 (22 Mar 2023)	review	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	Sources NHS GMS Expert Review Green South West GLH London South GLH South West GLH London South GLH Phenotypes X-linked syndromic TAAD syndromic thoracic aortic aneurysm and dissection
Green BGN in Thoracic aortic aneurysm or dissection Level 3: Connective tissue disorders and aortopathies Level 2: Cardiovascular disorders Version 1.127	review	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	Sources South West GLH London South GLH Expert Review Green Other Phenotypes syndromic thoracic aortic aneurysm and dissection X-linked syndromic TAAD
Green BGN in Ehlers Danlos syndrome with a likely monogenic cause Level 3: Connective tissues disorders Level 2: Rheumatological disorders Version 3.12 Latest signed off version: v3.0 (22 Mar 2023)	review	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	Sources NHS GMS Expert Review Green Other Phenotypes Meester-Loeys syndrome, OMIM:300989
Green BGN in Fetal anomalies Version 4.1 Latest signed off version: v4.0 (1 May 2024)	review	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Green PAGE DD-Gene2Phenotype Phenotypes Severe syndromic form of thoracic aortic aneurysm & dissection X-Linked Spondyloepimetaphyseal Dysplasia Meester-Loeys syndrome, 300989 Spondyloepimetaphyseal dysplasia, X-linked, 300106
Green BGN in DDG2P Version 4.3 Latest signed off version: v4.0 (1 May 2024) Component of the following Super Panels: Paediatric disorders	review	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Green DD-Gene2Phenotype Phenotypes Severe syndromic form of thoracic aortic aneurysm & dissection X-Linked Spondyloepimetaphyseal Dysplasia
Red BGN in Intellectual disability Level 3: Neurodevelopmental disorders Level 2: Neurology and neurodevelopmental disorders Version 6.13 Latest signed off version: v6.0 (1 May 2024) Component of the following Super Panels: Childhood onset leukodystrophy Hypotonic infant Paediatric disorders	review	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Red BRIDGE study SPEED NEURO Tier1 Gene Phenotypes X-Linked Spondyloepimetaphyseal Dysplasia Severe syndromic form of thoracic aortic aneurysm & dissection
Green BGN in Severe Paediatric Disorders Version 1.184	review	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Next Generation Children Project Expert Review Green Expert list Phenotypes Meester-Loeys syndrome, 300989 Spondyloepimetaphyseal dysplasia, X-linked, 300106