ADAR

adenosine deaminase, RNA specific
OMIM: 146920
PanelMode of inheritanceDetails
11 panels
R-numbers: R60
Signed-off version 4.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Aicardi-Goutieres syndrome 6, OMIM:615010
R-numbers: R57
Signed-off version 4.0
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes
Aicardi-Goutieres syndrome 6, OMIM:615010, Dyschromatosis symmetrica hereditaria, OMIM:127400
R-numbers: R61
Signed-off version 5.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Aicardi-Goutieres syndrome 6, OMIM:615010
Green
in DDG2P
Component of the following Super Panels:
  • - Paediatric disorders
Signed-off version 4.0
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes
AICARDI-GOUTIERES SYNDROME ASSOCIATED WITH A TYPE I INTERFERON SIGNATURE 615010, DYSCHROMATOSIS SYMMETRICA HEREDITARIA 1 127400
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 6, OMIM:615010
R-numbers: R21, R412
Signed-off version 4.0
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes
Aicardi-Goutieres syndrome 6, OMIM:615010, Dyschromatosis symmetrica hereditaria, OMIM:127400
Component of the following Super Panels:
  • - Childhood onset leukodystrophy
  • - Hypotonic infant
  • - Paediatric disorders
R-numbers: R29
Signed-off version 6.0
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes
Aicardi-Goutieres syndrome 6, OMIM:615010, Dyschromatosis symmetrica hereditaria, OMIM:127400
Component of the following Super Panels:
  • - Childhood onset leukodystrophy
  • - Hypotonic infant
  • - Paediatric disorders
  • - Unexplained death in infancy and sudden unexplained death in childhood
R-numbers: R98
Signed-off version 5.0
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes
Aicardi-Goutieres syndrome 6, OMIM:615010, Dyschromatosis symmetrica hereditaria, OMIM:127400
R-numbers: R236
Signed-off version 3.0
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes
Dyschromatosis symmetrica hereditaria, OMIM:127400, Aicardi-Goutieres syndrome 6, OMIM:615010
R-numbers: R15
Signed-off version 5.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Aicardi-Goutieres syndrome 6, OMIM:615010, Fever Syndromes and Related Diseases, Type 1 interferonopathies, Autoinflammatory Disorders
Component of the following Super Panels:
  • - Childhood onset leukodystrophy
Signed-off version 4.0
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes
Aicardi-Goutieres syndrome 6, OMIM:615010, Dyschromatosis symmetrica hereditaria, OMIM:127400