SAMHD1

SAM and HD domain containing deoxynucleoside triphosphate triphosphohydrolase 1
OMIM: 606754
PanelMode of inheritanceDetails
11 panels
R-numbers: R336
Signed-off version 2.2
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Moyamoya disease
R-numbers: R57
Signed-off version 1.137
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Aicardi-Goutieres syndrome 5, 612952
Green
in DDG2P
Component of the following Super Panels:
  • - Paediatric disorders
Signed-off version 2.2
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
AICARDI-GOUTIERES SYNDROME 239588
R-numbers: R21
Signed-off version 1.92
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
AICARDI-GOUTIERES SYNDROME
R-numbers: R59
Signed-off version 2.2
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Aicardi-Goutieres syndrome 5, 612952, seizures
Component of the following Super Panels:
  • - Hypotonic infant
  • - Paediatric disorders
  • - White matter disorders - childhood onset
R-numbers: R98
Signed-off version 2.3
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
(Disorders of nucleotide metabolism, Aicardi-Goutieres Syndrome) AGS5, Aicardi-Goutieres syndrome-5 (AGS5), Aicardi-Goutieres syndrome 5, 612952
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
R-numbers: R15
Signed-off version 2.1
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Aicardi-Goutieres syndrome 5 612952, Type 1 interferonopathies, Classical AGS, FCL, Autoinflammatory Disorders
R-numbers: R332
Signed-off version 1.6
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes
Chillblain lupus, Aicardi-Goutieres syndrome, AGS5, CHILBLAIN LUPUS 2, AICARDI-GOUTIERES SYNDROME 5, CHBL2
R-numbers: R62
Signed-off version 1.25
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Aicardi-Goutieres syndrome 5, 612952
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