Cerebral vascular malformations

Gene: SAMHD1

Green List (high evidence)

SAMHD1 (SAM and HD domain containing deoxynucleoside triphosphate triphosphohydrolase 1)
EnsemblGeneIds (GRCh38): ENSG00000101347
EnsemblGeneIds (GRCh37): ENSG00000101347
OMIM: 606754, Gene2Phenotype
SAMHD1 is in 23 panels

2 reviews

Louise Daugherty (Genomics England Curator)

Green List (high evidence)

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 rating
Created: 29 Nov 2019, 6:59 p.m. | Last Modified: 29 Nov 2019, 6:59 p.m.
Panel Version: 1.67

Alice Gardham (Genomics England)

I don't know

Comment on list classification: Expert list and mutations in at least six families
Created: 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 anuerysms
Created: 14 Dec 2016, 2:48 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Moyamoya

Publications

History Filter Activity

29 Nov 2019, Gel status: 3

Added New Source

Louise Daugherty (Genomics England Curator)

Source Yorkshire and North East GLH was added to SAMHD1.

29 Nov 2019, Gel status: 3

Added New Source

Louise Daugherty (Genomics England Curator)

Source NHS GMS was added to SAMHD1.

13 Sep 2019, Gel status: 3

Set publications

Louise Daugherty (Genomics England Curator)

Publications for gene: SAMHD1 were set to 21402907, ]]20653736

13 Sep 2019, Gel status: 3

Set publications

Louise Daugherty (Genomics England Curator)

Publications for gene: SAMHD1 were set to 21402907, ]]20653736

13 Sep 2019, Gel status: 3

Set publications

Louise Daugherty (Genomics England Curator)

Publications for gene: SAMHD1 were set to 21402907, ]]20653736

13 Sep 2019, Gel status: 3

Set publications

Louise Daugherty (Genomics England Curator)

Publications for gene: SAMHD1 were set to 21402907, 20653736

19 Dec 2016, Gel status: 4

Set publications

Ellen McDonagh (Genomics England Curator)

Publications for SAMHD1 were set to 21402907, 20653736

19 Dec 2016, Gel status: 4

Set Mode of Inheritance

Ellen McDonagh (Genomics England Curator)

Mode of inheritance for SAMHD1 was changed to BIALLELIC, autosomal or pseudoautosomal

19 Dec 2016, Gel status: 4

panel promoted to version 1

Alice Gardham (Genomics England)

Promoted to version 1 on the 19th December 2016

14 Dec 2016, Gel status: 4

Gene classified by Genomics England curator

Alice Gardham (Genomics England)

This gene has been classified as Green List (High Evidence).

14 Dec 2016, Gel status: 4

Gene classified by Genomics England curator

Alice Gardham (Genomics England)

This gene has been classified as Green List (High Evidence).

2 Nov 2016, Gel status: 0

Added New Source

Ellen McDonagh (Genomics England Curator)

SAMHD1 was added to Cerebrovascular disorderspanel. Sources: Expert list

2 Nov 2016, Gel status: 0

Created

Ellen McDonagh (Genomics England Curator)

SAMHD1 was created by ellenmcdonagh