Intracerebral calcification disorders

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 24 panels

2 reviews

Yanick Crow (University of Manchester)

Green List (high evidence)

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Aicardi-Goutières syndrome

Publications

Variants in this GENE are reported as part of current diagnostic practice

Ellen McDonagh (Genomics England Curator)

Comment on list classification: Gene found in 3/4 original sources. Gene rated green and diagnostic-grade by expert reviewer, and is a confirmed DD gene for AICARDI-GOUTIERES SYNDROME. Multiple families with different variants reported in OMIM.
Created: 9 Sep 2016, 10:09 a.m.
Mode of inheritance sourced from G2P.
Created: 10 Feb 2016, 4:58 p.m.

History Filter Activity

9 Feb 2017, Gel status: 4

Upload gene information

Louise Daugherty (Genomics England Curator)

SAMHD1 was added to Intracerebral calcification disorderspanel. Sources: Eligibility statement prior genetic testing

19 Dec 2016, Gel status: 4

panel promoted to version 1

Ellen McDonagh (Genomics England Curator)

19th Dec 2016: panel revised according to expert review and internal curation review.

9 Sep 2016, Gel status: 4

Gene classified by Genomics England curator

Ellen McDonagh (Genomics England Curator)

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

9 Sep 2016, Gel status: 4

Set publications

Ellen McDonagh (Genomics England Curator)

Publications for SAMHD1 were set to 25604658

9 Sep 2016, Gel status: 4

Gene classified by Genomics England curator

Ellen McDonagh (Genomics England Curator)

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

25 Aug 2016, Gel status: 3

Added New Source

Olivia Niblock (Genomics England Curator)

SAMHD1 was added to Intracerebral calcification disorderspanel. Source: UKGTN

25 Aug 2016, Gel status: 2

Added New Source

Olivia Niblock (Genomics England Curator)

SAMHD1 was added to Intracerebral calcification disorderspanel. Source: Emory Genetics Laboratory

25 Aug 2016, Gel status: 1

Added New Source

Olivia Niblock (Genomics England Curator)

SAMHD1 was added to Intracerebral calcification disorderspanel. Source: Illumina TruGenome Clinical Sequencing Services

10 Feb 2016, Gel status: 0

Added New Source

Ellen McDonagh (Genomics England Curator)

SAMHD1 was added to Intracerebral calcification disorderspanel. Sources: Expert list

10 Feb 2016, Gel status: 0

Created

Ellen McDonagh (Genomics England Curator)

SAMHD1 was created by ellenmcdonagh