RNU7-1

RNA, U7 small nuclear 1
PanelMode of inheritanceDetails
5 panels
R-numbers: R57
Signed-off version 2.3
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Aicardi–Goutières syndrome-like, Type I interferonopathy
R-numbers: R61
Signed-off version 3.1
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Type I interferonopathy, Aicardi-Goutières syndrome
Component of the following Super Panels:
  • - Hypotonic infant
  • - Paediatric disorders
  • - White matter disorders - childhood onset
R-numbers: R29
Signed-off version 4.4
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Aicardi–Goutières syndrome-like, Type I interferonopathy
R-numbers: R15
Signed-off version 3.1
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Aicardi-Goutières syndrome-like, Type 1 interferonopathy
Component of the following Super Panels:
  • - White matter disorders - childhood onset
Signed-off version 2.1
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Aicardi–Goutières syndrome-like, Type I interferonopathy