RNASEH2B

ribonuclease H2 subunit B
OMIM: 610326
PanelMode of inheritanceDetails
8 panels
R-numbers: R57
Signed-off version 1.137
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Aicardi-Goutieres syndrome 2, 610181
Green
in DDG2P
Component of the following Super Panels:
  • - Paediatric disorders
Signed-off version 2.2
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
AICARDI-GOUTIERES SYNDROME 2 610181
R-numbers: R21
Signed-off version 1.92
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
AICARDI-GOUTIERES SYNDROME 2
R-numbers: R59
Signed-off version 2.2
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Aicardi-Goutieres syndrome 2, 610181
Component of the following Super Panels:
  • - Hypotonic infant
  • - Paediatric disorders
  • - White matter disorders - childhood onset
R-numbers: R29
Signed-off version 3.2
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Aicardi-Goutieres syndrome 2, 610181, AICARDI-GOUTIERES SYNDROME 2
R-numbers: R15
Signed-off version 2.1
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Aicardi-Goutieres syndrome 2 610181, Type 1 interferonopathies, Classical AGS, SP, Autoinflammatory Disorders
R-numbers: R62
Signed-off version 1.25
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Aicardi-Goutieres syndrome 2, 610181
Component of the following Super Panels:
  • - White matter disorders - childhood onset
Signed-off version 1.12
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Aicardi-Goutieres Syndrome, General Leukodystrophy & Mitochondrial Leukoencephalopathy, Aicardi-Goutieres syndrome 2