Genes in panel

Adult onset movement disorder

Gene: SAMHD1

Red List (low evidence)

SAMHD1 (SAM and HD domain containing deoxynucleoside triphosphate triphosphohydrolase 1)
EnsemblGeneIds (GRCh38): ENSG00000101347
EnsemblGeneIds (GRCh37): ENSG00000101347
OMIM: 606754, Gene2Phenotype
SAMHD1 is in 22 panels

2 reviews

Louise Daugherty (Genomics England Curator)

Red List (low evidence)

This panel was initially created as a merge of genomic entities from the following Rare Disease 100K panels - Early onset dystonia (v1.76, code 192) - Parkinson Disease and Complex Parkinsonism (v1.64, code 39) - Brain channelopathy (v1.48, code 90) - Structural basal ganglia disorders (v1.10, code 180). This gene was RED and external expert review from South West GLH for GMS Neurology specialist test group for R56 agrees this gene should remain RED, there is relevance only to childhood onset
Created: 19 Jun 2019, 4:49 p.m.
Review and rating from Emily Jones (North Bristol NHS Trust) on behalf of South West GLH for GMS Neurology specialist test group.
Created: 23 Apr 2019, 12:18 p.m.

Emily Jones (North Bristol NHS Trust)

Red List (low evidence)

Numerous variants reported. Dystonia can be a feature. Onset in infancy
Created: 23 Apr 2019, 12:14 p.m.

Phenotypes
Aicardi-Goutieres syndrome 5, 612952

Publications

History Filter Activity

23 Apr 2019, Gel status: 1

Set Phenotypes, Set publications

Louise Daugherty (Genomics England Curator)

Added phenotypes Aicardi-Goutieres syndrome 5, 612952 for gene: SAMHD1 Publications for gene SAMHD1 were changed from to 25604658; 20842748

23 Apr 2019, Gel status: 1

Added New Source

Louise Daugherty (Genomics England Curator)

Source NHS GMS was added to SAMHD1.

23 Apr 2019, Gel status: 1

Added New Source

Louise Daugherty (Genomics England Curator)

Source South West GLH was added to SAMHD1.

3 Jan 2019, Gel status: 1

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

Ellen McDonagh (Genomics England Curator)

gene: SAMHD1 was added gene: SAMHD1 was added to Adult onset movement disorder. Sources: Expert Review Red Mode of inheritance for gene: SAMHD1 was set to Phenotypes for gene: SAMHD1 were set to Dystonia