Nucleotide metabolism disorders
Gene: SAMHD1
SAMHD1 (SAM and HD domain containing deoxynucleoside triphosphate triphosphohydrolase 1)
EnsemblGeneIds (GRCh38): ENSG00000101347
EnsemblGeneIds (GRCh37): ENSG00000101347
OMIM: 606754, Gene2Phenotype
SAMHD1 is in 23 panels
EnsemblGeneIds (GRCh38): ENSG00000101347
EnsemblGeneIds (GRCh37): ENSG00000101347
OMIM: 606754, Gene2Phenotype
SAMHD1 is in 23 panels
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- Phenotypes
-
- Disorders of mitochondrial nucleotide pool maintenance
- Aicardi-Goutieres syndrome MONDO:0018866
- OMIM
- 606754
- Clinvar variants
- Variants in SAMHD1
- Penetrance
- None
- Publications
- Panels with this gene
-
- Stroke
- Mackenzie's Mission_Reproductive Carrier Screening
- Leukodystrophy - adult onset
- Nucleotide metabolism disorders
- Prepair 1000+
- Brain Calcification
- BabyScreen+ newborn screening
- Autoinflammatory Disorders
- Vasculitis
- Intellectual disability syndromic and non-syndromic
- Genetic Epilepsy
- Disorders of immune dysregulation
- Regression
- Leukodystrophy - paediatric
- Fetal anomalies
- Additional findings_Paediatric
- Dystonia - complex
- Mendeliome
- Prepair 500+
- Hereditary Spastic Paraplegia - paediatric
- Cerebral vascular malformations
- Callosome
- Cerebral Palsy
History Filter Activity
20 May 2024, Gel status: 3
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes
Bryony Thompson (Royal Melbourne Hospital)gene: SAMHD1 was added gene: SAMHD1 was added to Nucleotide metabolism disorders. Sources: Expert Review Green Mode of inheritance for gene: SAMHD1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: SAMHD1 were set to 33307271; 21102625; 19525956; 20301648 Phenotypes for gene: SAMHD1 were set to Disorders of mitochondrial nucleotide pool maintenance; Aicardi-Goutieres syndrome MONDO:0018866