Genomics England

FAM20C

FAM20C, golgi associated secretory pathway kinase

Panel	Mode of inheritance	Details
Filter panels11 panels
Green in Amelogenesis imperfecta R-numbers: R340 Signed-off version 3.0	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Raine Syndrome, 259775, hypoplastic Amelogenesis Imperfecta
Green in Arthrogryposis R-numbers: R83 Signed-off version 6.3	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Raine syndrome 259775
Green in Clefting Component of the following Super Panels: - Paediatric disorders Signed-off version 5.3	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Raine syndrome, 259775
Green in DDG2P Component of the following Super Panels: - Paediatric disorders Signed-off version 4.3	BIALLELIC, autosomal or pseudoautosomal	Phenotypes RAINE SYNDROME 259775
Green in Fetal anomalies R-numbers: R21, R412 Signed-off version 4.0	BIALLELIC, autosomal or pseudoautosomal	Phenotypes RAINE SYNDROME
Green in Hydrocephalus R-numbers: R86 Signed-off version 4.6	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Raine syndrome, OMIM:259775
Green in Hypophosphataemia or rickets R-numbers: R154 Signed-off version 3.0	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Raine syndrome (259775)
Green in Intellectual disability Component of the following Super Panels: - Childhood onset leukodystrophy - Hypotonic infant - Paediatric disorders R-numbers: R29 Signed-off version 6.13	BIALLELIC, autosomal or pseudoautosomal	Phenotypes RAINE SYNDROME
Green in Osteopetrosis R-numbers: R104.4 Signed-off version 1.1	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Raine syndrome 259775
Green in Rare syndromic craniosynostosis or isolated multisuture synostosis R-numbers: R100 Signed-off version 5.0	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Raine syndrome 259775
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 Raine syndrome 259775