LTBP2

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

7 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 7 panels
Green LTBP2 in Eye Anterior Segment Abnormalities Level 2: Ophthalmological disorders Version 1.12	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Microspherophakia and/or megalocornea, with ectopia lentis and with or without secondary glaucoma MIM#251750
Red LTBP2 in Congenital Heart Defect Level 2: Cardiovascular disorders Version 0.430	2 reviews	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Red Literature Phenotypes Atrioventricular septal defect (AVSD) Mitral valve prolapse patent ductus arteriosus (PDA) secondary atrial septal defect pulmonary hypertension polydactyly
Green LTBP2 in Glaucoma congenital Level 2: Ophthalmological disorders Version 1.9	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Glaucoma 3, primary congenital, D 613086 Microspherophakia and/or megalocornea, with ectopia lentis and with or without secondary glaucoma, MIM# 251750
Green LTBP2 in Mendeliome Version 1.2302	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Glaucoma 3, primary congenital, D 613086 Microspherophakia and/or megalocornea, with ectopia lentis and with or without secondary glaucoma, MIM# 251750
Red LTBP2 in Skeletal dysplasia Level 3: Skeletal dysplasias Level 2: Skeletal disorders Version 0.302	1 review	Not set	Sources Expert Review Green NHS GMS Victorian Clinical Genetics Services Phenotypes Weill-Marchesani
Red LTBP2 in Hand and foot malformations Level 2: Dysmorphic and congenital abnormality syndromes Version 0.76 Component of the following Super Panels: Limb and Digital Malformations SuperPanel	2 reviews	Unknown	Sources Expert Review Red Expert list Victorian Clinical Genetics Services Phenotypes Weill-Marchesani
Red LTBP2 in Fetal anomalies Version 1.313	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Genomics England PanelApp Phenotypes Glaucoma 3, primary congenital, D 613086 Microspherophakia and/or megalocornea, with ectopia lentis and with or without secondary glaucoma, MIM# 251750