Genomics England

contactin associated protein 1

Panel	Mode of inheritance	Details
Filter panels6 panels
Green in Arthrogryposis R-numbers: R83 Signed-off version 6.3	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Lethal congenital contracture syndrome 7, OMIM:616286
Green in Clefting Component of the following Super Panels: - Paediatric disorders Signed-off version 5.3	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Hypomyelinating neuropathy, congenital, 3, OMIM:618186
Green in DDG2P Component of the following Super Panels: - Paediatric disorders Signed-off version 4.3	BIALLELIC, autosomal or pseudoautosomal	Phenotypes LETHAL CONGENITAL CONTRACTURE SYNDROME 7 616286
Green in Fetal anomalies R-numbers: R21, R412 Signed-off version 4.0	BIALLELIC, autosomal or pseudoautosomal	Phenotypes LETHAL CONGENITAL CONTRACTURE SYNDROME 7
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 Hypomyelinating neuropathy, congenital, 3 618186, Lethal congenital contracture syndrome 7 616286
Green in White matter disorders and cerebral calcification - narrow panel Component of the following Super Panels: - Childhood onset leukodystrophy Signed-off version 4.3	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Hypomyelinating neuropathy, congenital, 3, OMIM:618186