Genomics England
GMS Panels
Panels
Genes and Entities

RNU7-1

RNA, U7 small nuclear 1
PanelMode of inheritanceDetails
5 panels
Green
in Childhood onset dystonia, chorea or related movement disorder
R-numbers: R57
Signed-off version 7.0
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 8.0
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 9.0
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 8.0
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 7.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Aicardi–Goutières syndrome-like, Type I interferonopathy