Cerebral vascular malformations
Gene: SAMHD1EnsemblGeneIds (GRCh38): ENSG00000101347
EnsemblGeneIds (GRCh37): ENSG00000101347
OMIM: 606754, Gene2Phenotype
SAMHD1 is in 22 panels
2 reviews
Louise Daugherty (Genomics England Curator)
Combined reviews with Ian Berry (YNELGH), Vijeya Ganesan (Clinical expert - GOSH / ICH) & GEL clinical team (Richard Scott / Helen Brittain): relevant phenotype and sufficient evidence for a green ratingCreated: 29 Nov 2019, 6:59 p.m. | Last Modified: 29 Nov 2019, 6:59 p.m.
Panel Version: 1.67
Alice Gardham (Genomics England)
Comment on list classification: Expert list and mutations in at least six familiesCreated: 14 Dec 2016, 2:51 p.m.
Mutations reported in many relatives within one consanguineous family and identified in five further individuals with Moyamoya like phenotype or cerebral anuerysmsCreated: 14 Dec 2016, 2:48 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Moyamoya
Publications
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Yorkshire and North East GLH
- NHS GMS
- Expert Review Green
- Expert list
- Phenotypes
-
- Moyamoya disease, MONDO:0016820
- OMIM
- 606754
- Clinvar variants
- Variants in SAMHD1
- Penetrance
- Complete
- Publications
- Panels with this gene
-
- Undiagnosed metabolic disorders
- White matter disorders and cerebral calcification - narrow panel
- Intellectual disability
- Childhood onset dystonia, chorea or related movement disorder
- Rare genetic inflammatory skin disorders
- Adult onset dystonia, chorea or related movement disorder
- Primary immunodeficiency or monogenic inflammatory bowel disease
- Mitochondrial DNA maintenance disorder
- Mitochondrial disorders
- DDG2P
- Intracerebral calcification disorders
- Adult onset leukodystrophy
- Inherited white matter disorders
- COVID-19 research
- Cerebral vascular malformations
- Adult onset neurodegenerative disorder
- Likely inborn error of metabolism
- Early onset dystonia
- Possible mitochondrial disorder - nuclear genes
- Juvenile dermatomyositis
- Early onset or syndromic epilepsy
- Fetal anomalies
History Filter Activity
Set Phenotypes
Ivone Leong (Genomics England Curator)Phenotypes for gene: SAMHD1 were changed from Moyamoya disease to Moyamoya disease, MONDO:0016820
Added New Source
Louise Daugherty (Genomics England Curator)Source Yorkshire and North East GLH was added to SAMHD1.
Added New Source
Louise Daugherty (Genomics England Curator)Source NHS GMS was added to SAMHD1.
Set publications
Louise Daugherty (Genomics England Curator)Publications for gene: SAMHD1 were set to 21402907, ]]20653736
Set publications
Louise Daugherty (Genomics England Curator)Publications for gene: SAMHD1 were set to 21402907, ]]20653736
Set publications
Louise Daugherty (Genomics England Curator)Publications for gene: SAMHD1 were set to 21402907, ]]20653736
Set publications
Louise Daugherty (Genomics England Curator)Publications for gene: SAMHD1 were set to 21402907, 20653736
Set publications
Ellen McDonagh (Genomics England Curator)Publications for SAMHD1 were set to 21402907, 20653736
Set Mode of Inheritance
Ellen McDonagh (Genomics England Curator)Mode of inheritance for SAMHD1 was changed to BIALLELIC, autosomal or pseudoautosomal
panel promoted to version 1
Alice Gardham (Genomics England)Promoted to version 1 on the 19th December 2016
Gene classified by Genomics England curator
Alice Gardham (Genomics England)This gene has been classified as Green List (High Evidence).
Gene classified by Genomics England curator
Alice Gardham (Genomics England)This gene has been classified as Green List (High Evidence).
Added New Source
Ellen McDonagh (Genomics England Curator)SAMHD1 was added to Cerebrovascular disorderspanel. Sources: Expert list
Created
Ellen McDonagh (Genomics England Curator)SAMHD1 was created by ellenmcdonagh