Genes in panel

Hereditary ataxia - adult onset

Gene: MRE11

Green List (high evidence)

MRE11 (MRE11 homolog, double strand break repair nuclease)
EnsemblGeneIds (GRCh38): ENSG00000020922
EnsemblGeneIds (GRCh37): ENSG00000020922
OMIM: 600814, Gene2Phenotype
MRE11 is in 18 panels

3 reviews

James Polke (Neurogenetics Laboratory, Institute of Neurology, London)

I don't know

On Sheffield panel. 39 DM in HGMD - 8 of which are AT like phenotype but the rest are breast/ovarian/prostate cancers. ?More appropriate on a cancer panel.
Created: 27 Apr 2019, 7:39 p.m.

Louise Daugherty (Genomics England Curator)

I don't know

As discussed with the GMS Neurology Specialist Test Group webex call 26th July 2019: The Specialist Test Group all agreed that there is enough evidence to rate this gene Green
Created: 1 Aug 2019, 3:43 p.m. | Last Modified: 1 Aug 2019, 3:43 p.m.
Panel Version: 1.188
Review and rating submitted by James Polke (Neurogenetics Laboratory, Institute of Neurology, London) on behalf of London North GLH for GMS Neurology specialist test group
Created: 27 Apr 2019, 8:55 p.m.
Review and rating from Tracy Lester (Oxford Medical Genetics Laboratories Oxford University Hospitals NHS Foundation Trust) on behalf of Wessex and West Midlands GLH for GMS Neurology specialist test group.
Created: 15 Apr 2019, 10:21 a.m.

Tracy Lester (Genetics laboratory, Oxford UK)

Green List (high evidence)

Good evidence - caution requiRed List (Low Evidence) as heterozygous variants associated with cancer predisposition (similar to ATM)
Created: 15 Apr 2019, 10:06 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Ataxia-telangiectasia-like disorder 1, 604391

Variants in this GENE are reported as part of current diagnostic practice

History Filter Activity

27 Apr 2019, Gel status: 4

Added New Source

Louise Daugherty (Genomics England Curator)

Source London North GMS was added to MRE11.

15 Apr 2019, Gel status: 4

Set Phenotypes

Louise Daugherty (Genomics England Curator)

Added phenotypes Ataxia-telangiectasia-like disorder 1, 604391 for gene: MRE11

14 Apr 2019, Gel status: 4

Added New Source

Louise Daugherty (Genomics England Curator)

Source NHS GMS was added to MRE11.

14 Apr 2019, Gel status: 4

Added New Source

Louise Daugherty (Genomics England Curator)

Source Wessex and West Midlands GLH was added to MRE11.

9 Jan 2019, Gel status: 4

Panel promoted to version 1.0

Louise Daugherty (Genomics England Curator)

Checked panel against panel constituents. Ready to promote to version 1.

15 Dec 2018, Gel status: 4

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

Eleanor Williams (Genomics England Curator)

gene: MRE11 was added gene: MRE11 was added to Hereditary ataxia - adult onset. Sources: Hereditary ataxia v1.148,Expert Review Green Mode of inheritance for gene: MRE11 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: MRE11 were set to Ataxia-Telangiectasia-Like Disorder