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Intellectual disability

Gene: BGN

Amber List (moderate evidence)

BGN (biglycan)
EnsemblGeneIds (GRCh38): ENSG00000182492
EnsemblGeneIds (GRCh37): ENSG00000182492
OMIM: 301870, Gene2Phenotype
BGN is in 8 panels

3 reviews

Zornitza Stark (Australian Genomics)

Red List (low evidence)

Gene is associated with connective tissue/skeletal phenotypes, ID is not a feature.
Created: 29 Jan 2020, 10:31 a.m. | Last Modified: 29 Jan 2020, 10:31 a.m.
Panel Version: 3.0

Mode of inheritance
X-LINKED: hemizygous mutation in males, biallelic mutations in females

Phenotypes
Meester-Loeys syndrome, MIM# 300989; Spondyloepimetaphyseal dysplasia, X-linked, MIM#300106

BRIDGE consortium (NIHRBR-RD)

Green List (high evidence)

This is a pertinent gene from the NIHR BioResource - Rare Diseases Study (NIHRBR-RD) BRIDGE Study : SPEED (Specialist Pathology: Evaluating Exomes in Diagnostics) which covers epilepsies, movement and microcephaly disorders, this gene is on the SPEED_NEURO_20170705 gene list. Evidences used for SPEED NEURO gene list: in_ddg2p_2_4_2017;in_ddg2p_2_4_2017_conf . Main mutation mechanism : Loss of function/missense
Created: 27 Jul 2017, 5:11 p.m.

Mode of inheritance
X-LINKED: hemizygous mutation in males, biallelic mutations in females

Publications

Louise Daugherty (Genomics England Curator)

Comment on list classification: This gene is from an expert list and needs further assessment by the Genomics England curation team to access inclusion and pertinence to this panel.
Created: 28 Jul 2017, 9:27 a.m.

Details

Mode of Inheritance
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • Expert Review Amber
Phenotypes
  • X-Linked Spondyloepimetaphyseal Dysplasia
  • Severe syndromic form of thoracic aortic aneurysm & dissection
OMIM
301870
Clinvar variants
Variants in BGN
Penetrance
Complete
Panels with this gene

History Filter Activity

12 Mar 2018, Gel status: 2

Panel promoted to version 2.0

Ellen McDonagh (Genomics England Curator)

12.03.2018: Due to major updates completed (Phase 1, 2 and 3), this panel was promoted to Version 2 in order to reflect the major updates since November 2017 which have resulted in reviews for 836 genes added by Genomics England Curators and the Clinical Team, 130 new Green genes added to the interpretation pipeline (from 751 to 881 Green genes), and the gene total has increased from 1879 to 1927.

28 Jul 2017, Gel status: 2

Gene classified by Genomics England curator

Louise Daugherty (Genomics England Curator)

This gene has been classified as Amber List (Moderate Evidence).

27 Jul 2017, Gel status: 0

Added New Source

BRIDGE consortium (NIHRBR-RD)

BGN was added to Intellectual disabilitypanel. Sources: BRIDGE study SPEED NEURO Tier1 Gene

27 Jul 2017, Gel status: 0

Created

BRIDGE consortium (NIHRBR-RD)

BGN was created by BRIDGE