Genomics England

latent transforming growth factor beta binding protein 2

Panel	Mode of inheritance	Details
Filter panels4 panels
Green in Corneal dystrophy R-numbers: R262 Signed-off version 3.12	BIALLELIC, autosomal or pseudoautosomal	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
Green in DDG2P Component of the following Super Panels: - Paediatric disorders Signed-off version 5.48	BIALLELIC, autosomal or pseudoautosomal	Phenotypes MICROSPHEROPHAKIA 251750, PRIMARY CONGENITAL GLAUCOMA TYPE 3D 613086
Green in Ehlers Danlos syndrome with a likely monogenic cause R-numbers: R101 Signed-off version 3.21	BIALLELIC, autosomal or pseudoautosomal	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
Green in Structural eye disease R-numbers: R36 Signed-off version 4.0	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Glaucoma 3, primary congenital, D 613086, Primary Congenital Glaucoma