MRE11

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

14 panels

Panel Reviews Mode of inheritance Details
14 panels

Amber MRE11 in Xeroderma pigmentosum, Trichothiodystrophy or Cockayne syndrome

Level 3: DNA repair disorders
Level 2: Dysmorphic and congenital abnormality syndromes
Version 1.8

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 1.7

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 1.2

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 1.49

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 1.202

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 1.40

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 1.50

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

Green MRE11 in Neurodegenerative disorders - adult onset


Version 1.63

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • NHS GMS
  • London North GLH
  • Expert Review Green
Phenotypes
  • Ataxia-telangiectasia-like disorder
  • Ataxia-Telangiectasia-Like Disorder

Red MRE11 in Fetal anomalies


Version 0.306

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

Green MRE11 in DDG2P


Version 1.78

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 1.333

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 2.955

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 1.178

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