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  3. SAMHD1
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Dystonia - complex

Gene: SAMHD1

Amber List (moderate 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

1 review

Bryony Thompson (Royal Melbourne Hospital)

I don't know

Two unrelated cases reported with dystonia as a feature of the condition.
Sources: Expert list
Created: 6 Apr 2020, 6:09 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Aicardi-Goutieres syndrome 5 MIM#612952

Publications

Created: 6 Apr 2020, 6:09 a.m.

Panel version: 0.44

History Filter Activity

6 Sep 2020, Gel status: 2

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: samhd1 has been classified as Amber List (Moderate Evidence).

6 Apr 2020, Gel status: 2

Entity classified by Genomics England curator

Bryony Thompson (Royal Melbourne Hospital)

Gene: samhd1 has been classified as Amber List (Moderate Evidence).

6 Apr 2020, Gel status: 1

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 Dystonia - complex. Sources: Expert list Mode of inheritance for gene: SAMHD1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: SAMHD1 were set to 20131292 Phenotypes for gene: SAMHD1 were set to Aicardi-Goutieres syndrome 5 MIM#612952 Review for gene: SAMHD1 was set to AMBER