1. Genes and Genomic Entities
  2. SAMHD1

SAMHD1

SAM and HD domain containing deoxynucleoside triphosphate triphosphohydrolase 1
OMIM: 606754, Gene2Phenotype

22 panels

Panel Reviews Mode of inheritance Details
22 panels
Red SAMHD1 in Juvenile dermatomyositis

Level 3: Multi-system inflammatory/autoimmune disorders
Level 2: Rheumatological disorders
Version 1.4

review Not set
Sources
  • Expert list
Phenotypes
  • Aicardi Goutieres Syndrome
Green SAMHD1 in COVID-19 research


Level 2: Viral research
Version 1.147

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • IUIS Classification February 2018
  • London North GLH
  • NHS GMS
  • GRID V2.0
  • Victorian Clinical Genetics Services
  • North West GLH
  • ESID Registry 20171117
  • Expert Review Green
  • NHS GMS
  • North West GLH
  • London North GLH
  • IUIS Classification February 2018
  • Victorian Clinical Genetics Services
  • Expert Review Green
  • ESID Registry 20171117
  • GRID V2.0
Phenotypes
  • Classical AGS, FCL
  • Autoinflammatory Disorders
  • Type 1 interferonopathies
  • Aicardi-Goutieres syndrome 5 612952
Green SAMHD1 in Cerebral vascular malformations


Level 2: Neurology
Version 5.3
Latest signed off version: v5.2 (12 Aug 2026)

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Yorkshire and North East GLH
  • NHS GMS
  • Expert Review Green
  • Expert list
Phenotypes
  • Moyamoya disease, MONDO:0016820
Red SAMHD1 in Early onset dystonia

Level 3: Motor Disorders of the CNS
Level 2: Neurology and neurodevelopmental disorders
Version 1.152

review Not set
Sources
  • Emory Genetics Laboratory
Phenotypes
  • Dystonia
Green SAMHD1 in White matter disorders and cerebral calcification - childhood onset


Level 2: Neurology
Version 8.7
Latest signed off version: v8.6 (12 Aug 2026)

Component of the following Super Panels:

  • Leukodystrophy, childhood onset
  • Paediatric disorders

    		•  review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    Phenotypes
    • Aicardi-Goutieres Syndrome
    • General Leukodystrophy & Mitochondrial Leukoencephalopathy
    • Aicardi-Goutieres syndrome
    Green SAMHD1 in Rare genetic inflammatory skin disorders


    Level 2: Dermatology
    Version 4.26
    Latest signed off version: v4.25 (12 Aug 2026)

    		review BOTH monoallelic and biallelic, autosomal or pseudoautosomal
    Sources
    • London North GLH
    • NHS GMS
    • Expert Review Green
    Phenotypes
    • ?Chilblain lupus 2, OMIM:614415
    • AICARDI-GOUTIERES SYNDROME 5, OMIM:612952
    Green SAMHD1 in Leukodystrophy, adult onset


    Level 2: Neurology
    Version 7.9
    Latest signed off version: v7.8 (12 Aug 2026)

    		review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • NHS GMS
    • Yorkshire and North East GLH
    Phenotypes
    • Aicardi-Goutieres syndrome 5, 612952
    Green SAMHD1 in Primary immunodeficiency or monogenic inflammatory bowel disease


    Level 2: Immunology
    Version 9.105
    Latest signed off version: v9.91 (12 Aug 2026)

    		review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • NHS GMS
    • North West GLH
    • London North GLH
    • IUIS Classification February 2018
    • Victorian Clinical Genetics Services
    • Expert Review Green
    • ESID Registry 20171117
    • GRID V2.0
    Phenotypes
    • Aicardi-Goutieres syndrome 5 612952
    • Type 1 interferonopathies
    • Classical AGS, FCL
    • Autoinflammatory Disorders
    Green SAMHD1 in Intracerebral calcification disorders

    Level 3: Parenchymal brain disorders
    Level 2: Neurology and neurodevelopmental disorders
    Version 1.37

    		review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Eligibility statement prior genetic testing
    • Expert Review Green
    • UKGTN
    • Emory Genetics Laboratory
    • Illumina TruGenome Clinical Sequencing Services
    • Expert list
    Phenotypes
    • Aicardi-Goutieres syndrome
    • Aicardi-Goutieres Syndrome
    Green SAMHD1 in Inherited white matter disorders

    Level 3: White matter disorders
    Level 2: Neurology and neurodevelopmental disorders
    Version 1.186

    		review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Expert list
    Phenotypes
    • Aicardi-Goutieres Syndrome
    • General Leukodystrophy & Mitochondrial Leukoencephalopathy
    Red SAMHD1 in Mitochondrial DNA maintenance disorder


    Level 2: Mitochondrial
    Version 3.11
    Latest signed off version: v3.10 (12 Aug 2026)

    		review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Red
    • NHS GMS
    Phenotypes
    • Aicardi-Goutieres syndrome 5, 612952
    Red SAMHD1 in Neurodegenerative disorders, adult onset


    Level 2: Neurology
    Version 9.11
    Latest signed off version: v9.4 (12 Aug 2026)

    Component of the following Super Panels:

  • Adult-onset neurological disorders

    		•  review Unknown
    Sources
    • Expert Review Red
    Phenotypes
    • Dystonia
    Green SAMHD1 in Undiagnosed metabolic disorders

    Level 3: Specific metabolic abnormalities
    Level 2: Metabolic disorders
    Version 1.645

    		review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Literature
    Phenotypes
    • (Disorders of nucleotide metabolism, Aicardi-Gouti res Syndrome) AGS5
    • Aicardi-Goutieres syndrome-5 (AGS5)
    Green SAMHD1 in Likely inborn error of metabolism


    Level 2: Metabolic
    Version 9.30
    Latest signed off version: v9.29 (12 Aug 2026)

    Component of the following Super Panels:

  • Hypotonic infant
  • Leukodystrophy, childhood onset
  • Paediatric disorders
  • Unexplained death in infancy and sudden unexplained death in childhood

    		•  review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • London North GLH
    • NHS GMS
    • Expert Review Green
    Phenotypes
    • (Disorders of nucleotide metabolism, Aicardi-Goutieres Syndrome) AGS5
    • Aicardi-Goutieres syndrome-5 (AGS5)
    • Aicardi-Goutieres syndrome 5, 612952
    Red SAMHD1 in Possible mitochondrial disorder, nuclear genes


    Level 2: Mitochondrial
    Version 5.23
    Latest signed off version: v5.17 (12 Aug 2026)

    		review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • NHS GMS
    • Expert Review Red
    Phenotypes
    • Aicardi-Goutieres syndrome 5, 612952
    Green SAMHD1 in Fetal anomalies


    Level 2: Fetal (including NIPD)
    Version 8.5
    Latest signed off version: v8.0 (12 Aug 2026)

    		review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • PAGE DD-Gene2Phenotype
    • Expert Review Green
    Phenotypes
    • AICARDI-GOUTIERES SYNDROME
    Green SAMHD1 in DDG2P


    Version 8.1
    Latest signed off version: v8.0 (12 Aug 2026)

    Component of the following Super Panels:

  • Paediatric disorders

    		•  review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • DD-Gene2Phenotype
    • Expert Review Green
    Phenotypes
    • AICARDI-GOUTIERES SYNDROME 239588
    Green SAMHD1 in Early onset or syndromic epilepsy


    Level 2: Neurology
    Version 9.74
    Latest signed off version: v9.56 (12 Aug 2026)

    Component of the following Super Panels:

  • Paediatric disorders
  • Unexplained death in infancy and sudden unexplained death in childhood

    		•  review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Wessex and West Midlands GLH
    • NHS GMS
    • Expert Review Green
    • Victorian Clinical Genetics Services
    Phenotypes
    • Aicardi-Goutieres syndrome 5, 612952
    • seizures
    Green SAMHD1 in Intellectual disability


    Level 2: Developmental disorders
    Version 11.26
    Latest signed off version: v11.0 (12 Aug 2026)

    Component of the following Super Panels:

  • Hypotonic infant
  • Leukodystrophy, childhood onset
  • Paediatric disorders

    		•  review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Victorian Clinical Genetics Services
    • Expert Review Green
    Phenotypes
    • AICARDI-GOUTIERES SYNDROME
    Red SAMHD1 in Mitochondrial disorders


    Level 2: Mitochondrial
    Version 10.23
    Latest signed off version: v10.18 (12 Aug 2026)

    Component of the following Super Panels:

  • Leukodystrophy, childhood onset

    		•  review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Red
    • Expert list
    Phenotypes
    • Aicardi-Goutieres syndrome-5 (AGS5)
    Red SAMHD1 in Dystonia, chorea or related movement disorder, adult onset


    Level 2: Neurology
    Version 6.9
    Latest signed off version: v6.7 (12 Aug 2026)

    Component of the following Super Panels:

  • Adult-onset neurological disorders

    		•  review Not set
    Sources
    • NHS GMS
    • South West GLH
    • Expert Review Red
    Phenotypes
    • Aicardi-Goutieres syndrome 5, 612952
    • Dystonia
    Green SAMHD1 in Dystonia, chorea or related movement disorder, childhood onset


    Level 2: Neurology
    Version 8.14
    Latest signed off version: v8.13 (12 Aug 2026)

    		review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • South West GLH
    • Expert Review Green
    • London North GLH
    Phenotypes
    • Aicardi-Goutieres syndrome 5, 612952