LTBP2

latent transforming growth factor beta binding protein 2
OMIM: 602091, Gene2Phenotype

13 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 13 panels
Green LTBP2 in Glaucoma (developmental) Level 3: Anterior segment abnormalities Level 2: Ophthalmological disorders Version 1.45	review	BIALLELIC, autosomal or pseudoautosomal	Sources NHS GMS Expert Review Green Radboud University Medical Center, Nijmegen Illumina TruGenome Clinical Sequencing Services Phenotypes Primary Congenital Glaucoma Glaucoma 3, primary congenital, D 613086
Red LTBP2 in Bilateral congenital or childhood onset cataracts Level 3: Anterior segment abnormalities Level 2: Ophthalmological disorders Version 4.12 Latest signed off version: v4.0 (22 Mar 2023)	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red UKGTN
Green LTBP2 in Corneal abnormalities Level 3: Anterior segment abnormalities Level 2: Ophthalmological disorders Version 1.13	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Radboud University Medical Center, Nijmegen Phenotypes Microspherophakia and/or megalocornea, with ectopia lentis and with or without secondary glaucoma 251750
Amber LTBP2 in Corneal dystrophy Version 3.10 Latest signed off version: v3.2 (22 Mar 2023)	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Phenotypes Microspherophakia and/or megalocornea, with ectopia lentis and with or without secondary glaucoma, OMIM:251750 Glaucoma 3, primary congenital, D, OMIM:613086 Weill-Marchesani syndrome 3, recessive, OMIM:614819 Tags Q4_23_promote_green
Red LTBP2 in Thoracic aortic aneurysm or dissection (GMS) Version 3.11 Latest signed off version: v3.0 (22 Mar 2023)	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red South West GLH South West GLH Phenotypes Marfan syndrome
Red LTBP2 in Thoracic aortic aneurysm or dissection Level 3: Connective tissue disorders and aortopathies Level 2: Cardiovascular disorders Version 1.127	review	BIALLELIC, autosomal or pseudoautosomal	Sources South West GLH Literature Phenotypes Marfan syndrome
Red LTBP2 in Skeletal dysplasia Level 3: Skeletal dysplasias Level 2: Skeletal disorders Version 4.63 Latest signed off version: v4.0 (22 Mar 2023) Component of the following Super Panels: Paediatric disorders	review	Not set	Sources NHS GMS Phenotypes Weill-Marchesani
Amber LTBP2 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	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Phenotypes Microspherophakia and/or megalocornea, with ectopia lentis and with or without secondary glaucoma, OMIM:251750 Glaucoma 3, primary congenital, D, OMIM:613086 Weill-Marchesani syndrome 3, recessive, OMIM:614819 Tags Q4_23_promote_green
Red LTBP2 in Fetal anomalies Version 3.164 Latest signed off version: v3.0 (22 Mar 2023)	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red PAGE DD-Gene2Phenotype Phenotypes MICROSPHEROPHAKIA PRIMARY CONGENITAL GLAUCOMA TYPE 3D
Green LTBP2 in DDG2P Version 3.88 Latest signed off version: v3.1 (22 Mar 2023) Component of the following Super Panels: Paediatric disorders	review	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes MICROSPHEROPHAKIA 251750 PRIMARY CONGENITAL GLAUCOMA TYPE 3D 613086
Red LTBP2 in Intellectual disability - microarray and sequencing Level 3: Neurodevelopmental disorders Level 2: Neurology and neurodevelopmental disorders Version 5.544 Latest signed off version: v5.0 (22 Mar 2023) Component of the following Super Panels: Childhood onset leukodystrophy Hypotonic infant Paediatric disorders	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red 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
Green LTBP2 in Structural eye disease Version 3.77 Latest signed off version: v3.0 (22 Mar 2023)	review	BIALLELIC, autosomal or pseudoautosomal	Sources NHS GMS Expert Review Green Phenotypes Glaucoma 3, primary congenital, D 613086 Primary Congenital Glaucoma
Green LTBP2 in Severe Paediatric Disorders Version 1.184	review	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Next Generation Children Project Expert Review Green Expert list Phenotypes ?Weill-Marchesani syndrome 3, recessive, 614819 Microspherophakia and/or megalocornea, with ectopia lentis and with or without secondary glaucoma, 251750 Glaucoma 3, primary congenital, D, 613086