RNASEH2A

ribonuclease H2 subunit A
OMIM: 606034
PanelMode of inheritanceDetails
7 panels
R-numbers: R62
Signed-off version 4.3
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Aicardi-Goutieres syndrome 4, 610333
Green
in DDG2P
Component of the following Super Panels:
  • - Paediatric disorders
Signed-off version 4.3
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
AICARDI-GOUTIERES SYNDROME 4 610333
Component of the following Super Panels:
  • - Paediatric disorders
  • - Unexplained death in infancy and sudden unexplained death in childhood
R-numbers: R59
Signed-off version 5.10
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Aicardi-Goutieres syndrome 4, 610333
R-numbers: R21, R412
Signed-off version 4.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
AICARDI-GOUTIERES SYNDROME 4
Component of the following Super Panels:
  • - Childhood onset leukodystrophy
  • - Hypotonic infant
  • - Paediatric disorders
R-numbers: R29
Signed-off version 6.13
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Aicardi-Goutieres syndrome 4, 610333, AICARDI-GOUTIERES SYNDROME 4
R-numbers: R15
Signed-off version 5.3
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Aicardi-Goutieres syndrome 4 610333, Lupus, Type 1 interferonopathies, Classical AGS, Autoinflammatory Disorders
Component of the following Super Panels:
  • - Childhood onset leukodystrophy
Signed-off version 4.3
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Aicardi-Goutieres syndrome 4, Aicardi-Goutieres Syndrome, General Leukodystrophy & Mitochondrial Leukoencephalopathy