RNASEH2C

ribonuclease H2 subunit C
OMIM: 610330, Gene2Phenotype

20 panels

Panel Reviews Mode of inheritance Details
20 panels

Red RNASEH2C in Juvenile dermatomyositis

Level 3: Multi-system inflammatory/autoimmune disorders
Level 2: Rheumatological disorders
Version 1.3

review Not set
Sources
  • Expert list
Phenotypes
  • Aicardi Goutieres Syndrome

Green RNASEH2C in COVID-19 research


Level 2: Viral research
Version 1.76

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
  • Aicardi-Goutieres syndrome 3 610329
  • Autoinflammatory Disorders
  • Type 1 interferonopathies
  • Classical AGS

Red RNASEH2C in Early onset dystonia

Level 3: Motor Disorders of the CNS
Level 2: Neurology and neurodevelopmental disorders
Version 1.93

review Not set
Sources
  • Emory Genetics Laboratory
Phenotypes
  • Dystonia

Green RNASEH2C in White matter disorders and cerebral calcification - narrow panel


Version 1.32
Latest signed off version: v1.12 (2 Mar 2020)

Component of the following Super Panels:

  • White matter disorders - childhood onset
  • review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    Phenotypes
    • Aicardi-Goutieres Syndrome 3
    • Aicardi-Goutieres Syndrome
    • General Leukodystrophy & Mitochondrial Leukoencephalopathy
    • Aicardi-Goutieres syndrome 3

    Green RNASEH2C in White matter disorders - adult onset


    Version 1.8
    Latest signed off version: v1.6 (15 Oct 2020)

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • NHS GMS
    • Yorkshire and North East GLH
    Phenotypes
    • Aicardi-Goutieres syndrome 3, 610329

    Green RNASEH2C in Primary immunodeficiency


    Version 2.402
    Latest signed off version: v2.1 (24 Feb 2020)

    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 3 610329
    • Type 1 interferonopathies
    • Classical AGS
    • Autoinflammatory Disorders

    Green RNASEH2C in Intracerebral calcification disorders

    Level 3: Parenchymal brain disorders
    Level 2: Neurology and neurodevelopmental disorders
    Version 1.27

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Emory Genetics Laboratory
    • Illumina TruGenome Clinical Sequencing Services
    • Other
    • Eligibility statement prior genetic testing
    • UKGTN
    Phenotypes
    • Aicardi-Goutieres syndrome 3
    • Aicardi-Goutieres Syndrome

    Green RNASEH2C in Inherited white matter disorders

    Level 3: White matter disorders
    Level 2: Neurology and neurodevelopmental disorders
    Version 1.87

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Expert list
    Phenotypes
    • Aicardi-Goutieres Syndrome 3
    • General Leukodystrophy & Mitochondrial Leukoencephalopathy

    Red RNASEH2C in Neurodegenerative disorders - adult onset


    Version 2.57
    Latest signed off version: v2.56 (16 Dec 2021)

    review Unknown
    Sources
    • Expert Review Red
    Phenotypes
    • Dystonia

    Red RNASEH2C in Undiagnosed metabolic disorders

    Level 3: Specific metabolic abnormalities
    Level 2: Metabolic disorders
    Version 1.450

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Red
    • Literature
    Phenotypes
    • (Disorders of nucleotide metabolism, Aicardi-Gouti res Syndrome) AGS3
    • Inherited white matter disorders
    • Intellectual disability
    • Intracerebral calcification disorders

    Red RNASEH2C in Inborn errors of metabolism


    Version 2.105
    Latest signed off version: v2.104 (16 Dec 2021)

    Component of the following Super Panels:

  • Hypotonic infant
  • Paediatric disorders
  • White matter disorders - childhood onset
  • review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Red
    • London North GLH
    • NHS GMS
    Phenotypes
    • Intellectual disability
    • (Disorders of nucleotide metabolism, Aicardi-Gouti res Syndrome) AGS3
    • Intracerebral calcification disorders
    • Inherited white matter disorders

    Green RNASEH2C in Fetal anomalies


    Version 1.638
    Latest signed off version: v1.637 (30 Jun 2021)

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • PAGE DD-Gene2Phenotype
    • Expert Review Green
    Phenotypes
    • AICARDI-GOUTIERES SYNDROME 3

    Green RNASEH2C in TestPanel

    Level 3: Parenchymal brain disorders
    Level 2: Neurology and neurodevelopmental disorders
    Version 1.75

    review Not set
    Sources
    • Expert Review Green
    • UKGTN
    • Eligibility statement prior genetic testing
    Phenotypes
    • Aicardi-Goutieres Syndrome
    Tags
    • treatable

    Green RNASEH2C in DDG2P


    Version 2.21
    Latest signed off version: v2.2 (13 Feb 2020)

    Component of the following Super Panels:

  • Paediatric disorders
  • review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • DD-Gene2Phenotype
    • Expert Review Green
    Phenotypes
    • AICARDI-GOUTIERES SYNDROME 3 610329

    Green RNASEH2C in Genetic epilepsy syndromes

    Level 3: Inherited Epilepsy Syndromes
    Level 2: Neurology and neurodevelopmental disorders
    Version 2.312
    Latest signed off version: v2.311 (16 Dec 2021)

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Wessex and West Midlands GLH
    • NHS GMS
    • Expert Review Green
    • Victorian Clinical Genetics Services
    Phenotypes
    • Aicardi-Goutieres syndrome 3, 610329

    Green RNASEH2C in Intellectual disability

    Level 3: Neurodevelopmental disorders
    Level 2: Neurology and neurodevelopmental disorders
    Version 3.1002
    Latest signed off version: v3.1001 (16 Dec 2021)

    Component of the following Super Panels:

  • Hypotonic infant
  • Paediatric disorders
  • White matter disorders - childhood onset
  • review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Radboud University Medical Center, Nijmegen
    Phenotypes
    • Aicardi-Goutieres syndrome 3, 610329
    • AICARDI-GOUTIERES SYNDROME 3

    Red RNASEH2C in Adult onset movement disorder


    Version 1.82
    Latest signed off version: v1.81 (16 Dec 2021)

    review Not set
    Sources
    • NHS GMS
    • South West GLH
    • Expert Review Red
    Phenotypes
    • Aicardi-Goutieres syndrome 3, 610329
    • Dystonia

    Green RNASEH2C in Childhood onset dystonia or chorea or related movement disorder


    Version 1.87
    Latest signed off version: v1.86 (16 Dec 2021)

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • South West GLH
    • Expert Review Green
    • London North GLH
    Phenotypes
    • Aicardi-Goutieres syndrome 3, 610329
    Tags
    • founder-effect

    Green RNASEH2C in Severe Paediatric Disorders


    Version 1.66

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Next Generation Children Project
    • Expert Review Green
    • Expert list
    Phenotypes
    • Aicardi-Goutieres syndrome 3, 610329

    Green RNASEH2C in NewbornFullV1


    Version 0.1

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green