Genomics England

RNA, U7 small nuclear 1

Panel	Mode of inheritance	Details
Filter panels5 panels
Green in Childhood onset dystonia, chorea or related movement disorder R-numbers: R57 Signed-off version 3.56	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Aicardi–Goutières syndrome-like, Type I interferonopathy
Green in Childhood onset hereditary spastic paraplegia R-numbers: R61 Signed-off version 4.28	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Type I interferonopathy, Aicardi-Goutières syndrome
Green in Intellectual disability Component of the following Super Panels: - Childhood onset leukodystrophy - Hypotonic infant - Paediatric disorders R-numbers: R29 Signed-off version 5.343	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Aicardi–Goutières syndrome-like, Type I interferonopathy
Green in Primary immunodeficiency or monogenic inflammatory bowel disease R-numbers: R15 Signed-off version 4.123	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Aicardi-Goutières syndrome-like, Type 1 interferonopathy
Green in White matter disorders and cerebral calcification - narrow panel Component of the following Super Panels: - Childhood onset leukodystrophy Signed-off version 3.24	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Aicardi–Goutières syndrome-like, Type I interferonopathy