Hereditary neuropathy
Gene: MYH14
Third extended family with the same missense variant Arg941Leu is now reported in 31231018, with additional new functional evidence. Therefore, enough evidence for the green rating.Created: 8 Jan 2023, 12:36 p.m. | Last Modified: 8 Jan 2023, 12:36 p.m.
Panel Version: 1.457
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Neuropathy
Publications
Mode of pathogenicity
Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments
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.
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 evidenceCreated: 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
2 large families with novel mutation (not on GNOMAD). Both deafness and neuropathy. Gene already on deafness panelCreated: 16 May 2019, 9:43 p.m.
Single familyCreated: 9 Dec 2015, 8:50 a.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Single familyCreated: 8 Dec 2015, 3:07 p.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Source Expert Review Amber was added to MYH14. Rating Changed from Red List (low evidence) to Amber List (moderate evidence)
Source London North GLH was added to MYH14.
Added phenotypes ?Peripheral neuropathy, myopathy, hoarseness, and hearing loss, 614369 for gene: MYH14 Publications for gene MYH14 were changed from to 21480433; 27875632; 30373780
Source NHS GMS was added to MYH14.
Source South West GLH was added to MYH14.
This gene has been classified as Red List (Low Evidence).
This gene has been classified as Red List (Low Evidence).
MYH14 was added to Charcot-Marie-Tooth diseasepanel. Sources: Expert Review
MYH14 was created by MReilly-925