RNASEH2C

ribonuclease H2 subunit C
OMIM: 610330
PanelMode of inheritanceDetails
8 panels
R-numbers: R62
Signed-off version 4.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Aicardi-Goutieres syndrome 3, 610329
R-numbers: R57
Signed-off version 4.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Aicardi-Goutieres syndrome 3, 610329
Green
in DDG2P
Component of the following Super Panels:
  • - Paediatric disorders
Signed-off version 4.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
AICARDI-GOUTIERES SYNDROME 3 610329
Component of the following Super Panels:
  • - Paediatric disorders
  • - Unexplained death in infancy and sudden unexplained death in childhood
R-numbers: R59
Signed-off version 5.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Aicardi-Goutieres syndrome 3, 610329
R-numbers: R21, R412
Signed-off version 4.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
AICARDI-GOUTIERES SYNDROME 3
Component of the following Super Panels:
  • - Childhood onset leukodystrophy
  • - Hypotonic infant
  • - Paediatric disorders
R-numbers: R29
Signed-off version 6.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Aicardi-Goutieres syndrome 3, 610329, AICARDI-GOUTIERES SYNDROME 3
R-numbers: R15
Signed-off version 5.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Aicardi-Goutieres syndrome 3 610329, Type 1 interferonopathies, Classical AGS, Autoinflammatory Disorders
Component of the following Super Panels:
  • - Childhood onset leukodystrophy
Signed-off version 4.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Aicardi-Goutieres Syndrome 3, Aicardi-Goutieres Syndrome, General Leukodystrophy & Mitochondrial Leukoencephalopathy, Aicardi-Goutieres syndrome 3