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  2. BRIDGE_SPEED_NEURO_20170705
  3. LTBP2
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BRIDGE_SPEED_NEURO_20170705

Gene: LTBP2

Green List (high evidence)
LTBP2 (latent transforming growth factor beta binding protein 2)
EnsemblGeneIds (GRCh38): ENSG00000119681
EnsemblGeneIds (GRCh37): ENSG00000119681
OMIM: 602091, Gene2Phenotype
LTBP2 is in 12 panels

2 reviews

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_20141118_conf;in_ddg2p_20141118_conf;in_ddg2p_201507;in_ddg2p_201507_conf;in_ddg2p_2_4_2017;in_ddg2p_2_4_2017_conf . Main mutation mechanism : Loss of function
Created: 28 Jul 2017, 9:34 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Publications

Created: 2 Aug 2017, 4:44 p.m.

Panel version: 0.191

Louise Daugherty (Genomics England Curator)

Comment on phenotypes: corrected format issue
Created: 31 Jul 2017, 12:30 p.m.
Created: 31 Jul 2017, 12:30 p.m.

Panel version: 0.93

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • BRIDGE study SPEED NEURO Tier1 Gene
Phenotypes
  • Glaucoma 3, primary congenital, D, 613086
  • Microspherophakia and/or megalocornea, with ectopia lentis and with or without secondary glaucoma, 251750
  • Weill-Marchesani syndrome 3, recessive, 614819
OMIM
602091
Clinvar variants
Variants in LTBP2
Penetrance
Complete
Panels with this gene

History Filter Activity

31 Jul 2017, Gel status: 4

Set Phenotypes

Louise Daugherty (Genomics England Curator)

Phenotypes for LTBP2 were set to Glaucoma 3, primary congenital, D, 613086; Microspherophakia and/or megalocornea, with ectopia lentis and with or without secondary glaucoma, 251750; Weill-Marchesani syndrome 3, recessive, 614819

27 Jul 2017, Gel status: 0

Created

Louise Daugherty (Genomics England Curator)

LTBP2 was created by LouiseD

27 Jul 2017, Gel status: 4

Added New Source

Louise Daugherty (Genomics England Curator)

LTBP2 was added to BRIDGE_SPEED_NEURO_20170705panel. Sources: BRIDGE study SPEED NEURO Tier1 Gene,Expert Review Green