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Inborn errors of metabolism

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 22 panels

3 reviews

Zornitza Stark (Australian Genomics)

Red List (low evidence)

I agree this is a Green gene, however, what is the link to mitochondria/mitochondrial disease? The only thing I can find is this case report of co-occurence of mitochondrial deletions with SAMDH1 mutations in a patient.
Created: 31 Aug 2018, 8:26 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Aicardi-Goutieres syndrome 5, MIM#612952

Publications

Ellen McDonagh (Genomics England Curator)

Comment on list classification: Confirmed on the NHSE GMS Mitochondrial Specialist Group Meeting call on 25th February 2019 that this gene should be Red on this panel due to the clinical indication - Aicardi-Goutieres syndrome 5 is not a primary mitochondrial disorder. Therefore demoted from Green to Red.
Created: 25 Feb 2019, 4:34 p.m.
Comment on list classification: Confirmed DD gene for Aicardi-Goutieres disease, green gene on the intellectual disability gene panel, and multiple studies supporting an association.
Created: 15 Feb 2016, 4:03 p.m.

Shamima Rahman (UCL Institute of Child Health)

Green List (high evidence)

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

History Filter Activity

13 Feb 2019, Gel status: 4

Added New Source, Added New Source

Ivone Leong (Genomics England Curator)

Source NHS GMS was added to SAMHD1. Source London North GLH was added to SAMHD1.

24 Jan 2019, Gel status: 4

Set Phenotypes

Rebecca Foulger (Genomics England curator)

Phenotypes for gene: SAMHD1 were changed from (Disorders of nucleotide metabolism, Aicardi-Gouti res Syndrome) AGS5; Aicardi-Goutieres syndrome-5 (AGS5) to (Disorders of nucleotide metabolism, Aicardi-Goutieres Syndrome) AGS5; Aicardi-Goutieres syndrome-5 (AGS5); Aicardi-Goutieres syndrome 5, 612952

8 Jan 2019, Gel status: 4

Panel promoted to version 1.0

Ellen McDonagh (Genomics England Curator)

Ellen McDonagh: Comment on mode of pathogenici

16 Dec 2018, Gel status: 4

Set Phenotypes, Set publications

Ellen McDonagh (Genomics England Curator)

Added phenotypes Aicardi-Goutieres syndrome-5 (AGS5) for gene: SAMHD1 Publications for gene SAMHD1 were changed from 27604308 to PMID: 19525956; 25604658

16 Dec 2018, Gel status: 4

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

Ellen McDonagh (Genomics England Curator)

gene: SAMHD1 was added gene: SAMHD1 was added to Inborn errors of metabolism. Sources: Expert Review Green Mode of inheritance for gene: SAMHD1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: SAMHD1 were set to 27604308 Phenotypes for gene: SAMHD1 were set to (Disorders of nucleotide metabolism, Aicardi-Gouti res Syndrome) AGS5; Aicardi-Goutieres syndrome-5 (AGS5)