Cerebral vascular malformations
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

1 review

Sangavi Sivagnanasundram (Melbourne Health)

Reported in >3 unrelated probands with MoyaMoya like phenotype including cerebral aneurysm and abnormal brain MRI findings.
Created: 18 Nov 2024, 2:46 a.m. | Last Modified: 18 Nov 2024, 2:46 a.m.

Panel Version: 0.39

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Moyamoya disease MONDO:0016820; Aicardi-Goutieres syndrome 5 MONDO:0013059

Publications

Created: 18 Nov 2024, 2:46 a.m.
Last Modified: 18 Nov 2024, 2:46 a.m.
Panel version: 0.39

Details

Mode of Inheritance

BIALLELIC, autosomal or pseudoautosomal

Sources

Genomics England PanelApp
Expert Review Green

Phenotypes

Moyamoya disease

OMIM

606754

Clinvar variants

Variants in SAMHD1

Penetrance

None

Publications

Panels with this gene

History Filter Activity

18 May 2020, Gel status: 3

Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: SAMHD1 was added gene: SAMHD1 was added to Cerebral vascular malformations. Sources: Expert Review Green,Genomics England PanelApp Mode of inheritance for gene: SAMHD1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: SAMHD1 were set to 20653736; 21402907 Phenotypes for gene: SAMHD1 were set to Moyamoya disease

Cerebral vascular malformations Gene: SAMHD1