MRE11

MRE11 homolog, double strand break repair nuclease
OMIM: 600814, Gene2Phenotype

18 panels

Panel Reviews Mode of inheritance Details
18 panels

Amber MRE11 in COVID-19 research


Level 2: Viral research
Version 1.8

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • GRID V2.0
  • ESID Registry 20171117
  • ESID Registry 20171117
  • GRID V2.0
Phenotypes
  • AT-like disorder
  • Ataxia-telangiectasia-like disorder 1 604391

Amber MRE11 in Xeroderma pigmentosum, Trichothiodystrophy or Cockayne syndrome

Level 3: DNA repair disorders
Level 2: Dysmorphic and congenital abnormality syndromes
Version 2.7
Signed off v.2.5 on 24 Feb 2020

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Literature
Phenotypes
  • Nijmegen breakage syndrome-like severe microcephaly
Tags
  • watchlist

Amber MRE11 in White matter disorders and cerebral calcification - narrow panel


Version 1.14
Signed off v.1.12 on 2 Mar 2020

Component of the following Super Panels:

  • White matter disorders - childhood onset
  • review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Amber
    Phenotypes
    • Nijmegen breakage syndrome-like severe microcephaly

    Green MRE11 in Ataxia and cerebellar anomalies - narrow panel


    Version 2.6
    Signed off v.2.2 on 2 Mar 2020

    Component of the following Super Panels:

  • Hereditary ataxia and cerebellar anomalies - childhood onset
  • review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    Phenotypes
    • Ataxia-telangiectasia-like disorder
    • Ataxia-Telangiectasia-Like Disorder

    Red MRE11 in Hereditary haemorrhagic telangiectasia

    Level 3: Vascular lung disorders
    Level 2: Respiratory disorders
    Version 2.4
    Signed off v.2.2 on 2 Mar 2020

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Red
    • UKGTN
    • Illumina TruGenome Clinical Sequencing Services
    • Radboud University Medical Center, Nijmegen
    Phenotypes
    • Ataxia-telangiectasia-like disorder, 604391

    Green MRE11 in Hereditary ataxia

    Level 3: Motor Disorders of the CNS
    Level 2: Neurology and neurodevelopmental disorders
    Version 1.205

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • UKGTN
    • Radboud University Medical Center, Nijmegen
    • Illumina TruGenome Clinical Sequencing Services
    Phenotypes
    • Ataxia-Telangiectasia-Like Disorder
    • Ataxia-telangiectasia-like disorder

    Red MRE11 in Ductal plate malformation


    Version 1.10

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Illumina TruGenome Clinical Sequencing Services
    • Expert list
    Phenotypes
    • Ataxia-telangiectasia-like disorder 1 (604391)

    Red MRE11 in Primary immunodeficiency


    Version 2.175
    Signed off v.2.1 on 24 Feb 2020

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Red
    • ESID Registry 20171117
    • GRID V2.0
    Phenotypes
    • Ataxia-telangiectasia-like disorder 1 604391
    • AT-like disorder

    Amber MRE11 in Severe microcephaly

    Level 3: DNA repair disorders
    Level 2: Dysmorphic and congenital abnormality syndromes
    Version 2.6
    Signed off v.2.2 on 2 Mar 2020

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • NHS GMS
    • Expert Review Amber
    • Literature
    Phenotypes
    • Nijmegen breakage syndrome-like severe microcephaly
    Tags
    • watchlist

    Red MRE11 in Neurodegenerative disorders - adult onset


    Version 2.4
    Signed off v.2.2 on 2 Mar 2020

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Red
    • Wessex and West Midlands GLH
    • Yorkshire and North East GLH
    • NHS GMS
    • London North GLH
    Phenotypes
    • Ataxia-telangiectasia-like disorder
    • Ataxia-Telangiectasia-Like Disorder

    Red MRE11 in Fetal anomalies


    Version 1.73
    Signed off v.1.2 on 17 Feb 2020

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Red
    • PAGE DD-Gene2Phenotype
    Phenotypes
    • ATAXIA TELANGIECTASIA-LIKE DISORDER

    Green MRE11 in DDG2P


    Version 2.8
    Signed off v.2.2 on 13 Feb 2020

    Component of the following Super Panels:

  • Paediatric disorders
  • review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • DD-Gene2Phenotype
    • Expert Review Green
    Phenotypes
    • ATAXIA TELANGIECTASIA-LIKE DISORDER 604391

    Red MRE11 in Hereditary neuropathy

    Level 3: Motor and Sensory Disorders of the PNS
    Level 2: Neurology and neurodevelopmental disorders
    Version 1.368

    review Not set
    Sources
    • NHS GMS
    • South West GLH
    • Emory Genetics Laboratory
    Phenotypes
    • Hereditary Neuropathies

    Red MRE11 in Intellectual disability

    Level 3: Neurodevelopmental disorders
    Level 2: Neurology and neurodevelopmental disorders
    Version 3.82
    Signed off v.3.2 on 13 Feb 2020

    Component of the following Super Panels:

  • Hypotonic infant
  • Paediatric disorders
  • White matter disorders - childhood onset
  • review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Red
    Phenotypes
    • Nijmegen breakage syndrome-like severe microcephaly, Intellectual disability

    Green MRE11 in Hereditary ataxia - adult onset


    Version 2.8
    Signed off v.2.7 on 10 Mar 2020

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • London North GLH
    • NHS GMS
    • Wessex and West Midlands GLH
    • Expert Review Green
    • Hereditary ataxia v1.148
    Phenotypes
    • Ataxia-telangiectasia-like disorder 1, 604391
    • Ataxia-Telangiectasia-Like Disorder

    Red MRE11 in Hereditary neuropathy NOT PMP22 copy number


    Version 1.4
    Signed off v.1.2 on 27 Feb 2020

    review Not set
    Sources
    • NHS GMS
    • South West GLH
    • Emory Genetics Laboratory
    • NHS GMS
    • South West GLH
    Phenotypes
    • Hereditary Neuropathies

    Green MRE11 in Childhood onset dystonia or chorea or related movement disorder


    Version 1.4
    Signed off v.1.2 on 25 Feb 2020

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • London North GLH
    Phenotypes
    • Ataxia-telangiectasia-like disorder 1, 604391

    Green MRE11 in Severe Paediatric Disorders


    Version 1.6

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Next Generation Children Project
    • Expert Review Green
    • Expert list
    Phenotypes
    • Ataxia-telangiectasia-like disorder 1, 604391