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Hereditary neuropathy NOT PMP22 copy number

Gene: MT-RNR1

Amber List (moderate evidence)

MT-RNR1 (mitochondrially encoded 12S RNA)
EnsemblGeneIds (GRCh38): ENSG00000211459
EnsemblGeneIds (GRCh37): ENSG00000211459
OMIM: 561000, Gene2Phenotype
MT-RNR1 is in 8 panels

2 reviews

Louise Daugherty (Genomics England Curator)

I don't know

Gene rated Amber : From feedback from Genomics England Clinical team (Anna de Burca and Meriel McEntagart). Extension of panel scope - mitochondrial / Broader phenotype but mitochondrial gene - discuss
Created: 6 Dec 2019, 9:04 p.m. | Last Modified: 6 Dec 2019, 9:04 p.m.
Panel Version: 0.79
Comment on list classification: This gene has changed ratings because the panel for R78 was going to be a broad panel (to include conditions where neuropathy is part of a more complex phenotype or where there is overlap with another neurological presentation eg. HSP) but subsequently during the follow up call on 21st June with the Test Group it was agreed that it was more clinically relevant for R78 to be restricted to genes that are associated with isolated neuropathy, which this panel represents. For genes that represent the broader phenotype see https://panelapp.genomicsengland.co.uk/panels/85/.
Created: 6 Dec 2019, 9:02 p.m. | Last Modified: 6 Dec 2019, 9:02 p.m.
Panel Version: 0.79
Review and rating uploaded from file (Curation_Template_GMS_Neuro_AR_20190521.xlsx) submitted by Alex Rossor (UCL Institute of Neurology) on behalf of London North GLH for GMS Neurology specialist test group.
Created: 11 Jun 2019, 1:40 p.m.

Alexander Rossor (UCL Institute of Neurology)

Green List (high evidence)

Mode of inheritance
MITOCHONDRIAL

Phenotypes
Parkinsonism, deafness, and sensory-motor axonal neuropathy

Details

Mode of Inheritance
MITOCHONDRIAL
Sources
  • Expert Review Amber
  • London North GLH
  • NHS GMS
  • NHS GMS
  • London North GLH
Phenotypes
  • Parkinsonism, deafness, and sensory-motor axonal neuropathy
OMIM
561000
Clinvar variants
Variants in MT-RNR1
Penetrance
None
Panels with this gene

History Filter Activity

6 Dec 2019, Gel status: 2

Entity classified by Genomics England curator

Louise Daugherty (Genomics England Curator)

Gene: mt-rnr1 has been classified as Amber List (Moderate Evidence).

5 Dec 2019, Gel status: 1

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

Ellen McDonagh (Genomics England Curator)

gene: MT-RNR1 was added gene: MT-RNR1 was added to Hereditary neuropathy NOT PMP22 copy number. Sources: NHS GMS,London North GLH Mode of inheritance for gene gene: MT-RNR1 was set to MITOCHONDRIAL Phenotypes for gene: MT-RNR1 were set to Parkinsonism, deafness, and sensory-motor axonal neuropathy