Genomics England

RNU7-1

RNA, U7 small nuclear 1

Panel	Mode of inheritance	Details
Filter panels6 panels
Green in Dystonia, chorea or related movement disorder, childhood onset R-numbers: R57 Signed-off version 8.13	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Aicardi-Goutieres syndrome 9, OMIM:619487, Type I interferonopathy
Green in Fetal anomalies R-numbers: R21, R412 Signed-off version 8.0	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Aicardi-Goutieres syndrome 9, OMIM:619487, Type I interferonopathy
Green in Hereditary spastic paraplegia, childhood onset R-numbers: R61 Signed-off version 9.7	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Aicardi-Goutieres syndrome 9, OMIM:619487, Type I interferonopathy
Green in Intellectual disability Component of the following Super Panels: - Hypotonic infant - Leukodystrophy, childhood onset - Paediatric disorders Signed-off version 11.0	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Aicardi-Goutieres syndrome 9, OMIM:619487, Type I interferonopathy
Green in Primary immunodeficiency or monogenic inflammatory bowel disease R-numbers: R15 Signed-off version 9.91	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Aicardi-Goutieres syndrome 9, OMIM:619487, Type I interferonopathy
Green in White matter disorders and cerebral calcification - childhood onset Component of the following Super Panels: - Leukodystrophy, childhood onset - Paediatric disorders Signed-off version 8.6	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Aicardi-Goutieres syndrome 9, OMIM:619487, Type I interferonopathy