Hereditary neuropathy

Gene: MYH14

Green List (high evidence)

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

• 31231018

Mode of pathogenicity
Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments

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.

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

• 21480433
• 27875632
• 30373780

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

Red List (low evidence)

Single family

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

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted