BGN

biglycan
OMIM: 301870, Gene2Phenotype

8 panels

Panel Reviews Mode of inheritance Details
8 panels

Red BGN in ClinGen_Familial thoracic aortic aneurysm and aortic dissection


Version 0.10

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 and dissection


Version 1.18
Latest signed off version: v1.2 (19 Feb 2020)

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 1.123

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 syndromes

Level 3: Connective tissues disorders
Level 2: Rheumatological disorders
Version 2.63
Latest signed off version: v2.3 (4 Mar 2020)

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 1.728
Latest signed off version: v1.92 (21 Aug 2020)

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 2.49
Latest signed off version: v2.2 (13 Feb 2020)

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
    Tags
    • watchlist

    Red BGN in Intellectual disability

    Level 3: Neurodevelopmental disorders
    Level 2: Neurology and neurodevelopmental disorders
    Version 3.1367
    Latest signed off version: v3.2 (13 Feb 2020)

    Component of the following Super Panels:

  • Hypotonic infant
  • Paediatric disorders
  • White matter disorders - childhood onset
  • 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 1.84

    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