Genomics England

osteopetrosis associated transmembrane protein 1

Panel	Mode of inheritance	Details
Filter panels4 panels
Green in Fetal anomalies R-numbers: R21, R412 Signed-off version 4.0	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Osteopetrosis 259720
Green in Hydrocephalus R-numbers: R86 Signed-off version 4.6	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Osteopetrosis, autosomal recessive 5, OMIM:259720
Green in Osteopetrosis R-numbers: R104.4 Signed-off version 1.1	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Osteopetrosis, autosomal recessive 5 259720
Green in Skeletal dysplasia Component of the following Super Panels: - Paediatric disorders R-numbers: R104 Signed-off version 5.3	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Osteopetrosis, autosomal recessive 5 259720