Genes in panel

Hereditary neuropathy

Gene: MYH14

Amber List (moderate evidence)

MYH14 (myosin heavy chain 14)
EnsemblGeneIds (GRCh38): ENSG00000105357
EnsemblGeneIds (GRCh37): ENSG00000105357
OMIM: 608568, Gene2Phenotype
MYH14 is in 8 panels

4 reviews

Louise Daugherty (Genomics England Curator)

I don't know

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 submitted by Natalie Forrester (SWGLH - Bristol Genetics) on behalf of South West GLH for GMS Neurology specialist test group.
Created: 29 Apr 2019, 12:53 p.m.

Natalie Forrester (SWGLH - Bristol Genetics)

Red List (low evidence)

More evidence needed. PMID:21480433 and PMID: 27875632 - discount as dominant gene and variant far too common on gnomAD. PMID: 30373780 - 2 probands but one had pathogenic variant in another gene. No further evidence
Created: 29 Apr 2019, 12:30 p.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
?Peripheral neuropathy, myopathy, hoarseness, and hearing loss, 614369

Publications

Alexander Rossor (UCL Institute of Neurology)

Green List (high evidence)

2 large families with novel mutation (not on GNOMAD). Both deafness and neuropathy. Gene already on deafness panel
Created: 16 May 2019, 9:43 p.m.
Single family
Created: 9 Dec 2015, 8:50 a.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Mary Reilly (Institute of Neurology)

Red List (low evidence)

Single family
Created: 8 Dec 2015, 3:07 p.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Amber
  • London North GLH
  • NHS GMS
  • South West GLH
Phenotypes
  • ?Peripheral neuropathy, myopathy, hoarseness, and hearing loss, 614369
OMIM
608568
Clinvar variants
Variants in MYH14
Penetrance
Complete
Publications
Panels with this gene

History Filter Activity

7 Dec 2019, Gel status: 2

Added New Source, Status Update

Louise Daugherty (Genomics England Curator)

Source Expert Review Amber was added to MYH14. Rating Changed from Red List (low evidence) to Amber List (moderate evidence)

6 Jun 2019, Gel status: 1

Added New Source

Louise Daugherty (Genomics England Curator)

Source London North GLH was added to MYH14.

29 Apr 2019, Gel status: 1

Set Phenotypes, Set publications

Louise Daugherty (Genomics England Curator)

Added phenotypes ?Peripheral neuropathy, myopathy, hoarseness, and hearing loss, 614369 for gene: MYH14 Publications for gene MYH14 were changed from to 21480433; 27875632; 30373780

29 Apr 2019, Gel status: 1

Added New Source

Louise Daugherty (Genomics England Curator)

Source NHS GMS was added to MYH14.

29 Apr 2019, Gel status: 1

Added New Source

Louise Daugherty (Genomics England Curator)

Source South West GLH was added to MYH14.

6 May 2016, Gel status: 1

Gene classified by Genomics England curator

Ellen McDonagh (Genomics England Curator)

This gene has been classified as Red List (Low Evidence).

6 May 2016, Gel status: 1

Gene classified by Genomics England curator

Ellen McDonagh (Genomics England Curator)

This gene has been classified as Red List (Low Evidence).

8 Dec 2015, Gel status: 0

Created

Mary Reilly (Institute of Neurology)

MYH14 was created by MReilly-925

8 Dec 2015, Gel status: 0

Added New Source

Mary Reilly (Institute of Neurology)

MYH14 was added to Charcot-Marie-Tooth diseasepanel. Sources: Expert Review