Genes in panel

Hereditary neuropathy

Gene: MT-RNR1

Green List (high evidence)

MT-RNR1 (mitochondrially encoded 12S RNA)
EnsemblGeneIds (GRCh38): ENSG00000211459
EnsemblGeneIds (GRCh37): ENSG00000211459
OMIM: 561000, Gene2Phenotype
MT-RNR1 is in 7 panels

2 reviews

Louise Daugherty (Genomics England Curator)

Green List (high evidence)

The Neurology Specialist Test Group agreed that this gene was recommended for the WGS panel based on a broader phenotype view to include conditions where neuropathy is part of a more complex phenotype or where there is overlap with another neurological presentation eg. HSP. This panel includes conditions where neuropathy is part of a more complex phenotype or where there is overlap with another neurological presentation. This panel as going to be used for R78, 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 and as a result a new panel was created https://panelapp.genomicsengland.co.uk/panels/846/ for this purpose.
Created: 7 Dec 2019, 6:08 p.m. | Last Modified: 7 Dec 2019, 6:08 p.m.
Panel Version: 1.352
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 Green
  • 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

7 Dec 2019, Gel status: 3

Added New Source, Status Update

Louise Daugherty (Genomics England Curator)

Source Expert Review Green was added to MT-RNR1. Rating Changed from Red List (low evidence) to Green List (high evidence)

6 Jun 2019, Gel status: 1

Set Phenotypes

Louise Daugherty (Genomics England Curator)

Phenotypes for gene: MT-RNR1 were changed from to Parkinsonism, deafness, and sensory-motor axonal neuropathy

6 Jun 2019, Gel status: 1

Added New Source

Louise Daugherty (Genomics England Curator)

Source NHS GMS was added to MT-RNR1.

6 Jun 2019, Gel status: 1

Created, Added New Source, Set mode of inheritance

Louise Daugherty (Genomics England Curator)

gene: MT-RNR1 was added gene: MT-RNR1 was added to Hereditary neuropathy. Sources: London North GLH Mode of inheritance for gene gene: MT-RNR1 was set to MITOCHONDRIAL