LTBP2

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

12 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 12 panels
Green LTBP2 in Glaucoma (developmental) Level 3: Anterior segment abnormalities Level 2: Ophthalmological disorders Version 1.47	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 2: Ophthalmology Version 7.6 Latest signed off version: v7.0 (30 Apr 2025)	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 1.14	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
Green LTBP2 in Corneal dystrophy Level 2: Ophthalmology Version 4.7 Latest signed off version: v4.0 (30 Apr 2025)	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS 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
Red LTBP2 in Thoracic aortic aneurysm or dissection (GMS) Level 2: Cardiology Version 4.5 Latest signed off version: v4.0 (30 Apr 2025)	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 1.129	review	BIALLELIC, autosomal or pseudoautosomal	Sources South West GLH Literature Phenotypes Marfan syndrome
Red LTBP2 in Skeletal dysplasia Level 2: Musculoskeletal Version 8.34 Latest signed off version: v8.0 (30 Apr 2025) Component of the following Super Panels: Paediatric disorders	review	Not set	Sources NHS GMS Phenotypes Weill-Marchesani
Green LTBP2 in Ehlers Danlos syndrome with a likely monogenic cause Level 2: Musculoskeletal Version 4.6 Latest signed off version: v4.0 (30 Apr 2025)	review	BIALLELIC, autosomal or pseudoautosomal	Sources NHS GMS Expert Review Green 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
Red LTBP2 in Fetal anomalies Level 2: Fetal (including NIPD) Version 6.140 Latest signed off version: v6.0 (30 Apr 2025)	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red PAGE DD-Gene2Phenotype Phenotypes MICROSPHEROPHAKIA PRIMARY CONGENITAL GLAUCOMA TYPE 3D
Green LTBP2 in DDG2P Version 6.424 Latest signed off version: v6.0 (30 Apr 2025) 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 Level 2: Developmental disorders Version 9.285 Latest signed off version: v9.0 (30 Apr 2025) 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 Level 2: Ophthalmology Version 4.37 Latest signed off version: v4.0 (7 Aug 2024)	review	BIALLELIC, autosomal or pseudoautosomal	Sources NHS GMS Expert Review Green Phenotypes Glaucoma 3, primary congenital, D 613086 Primary Congenital Glaucoma