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Hereditary neuropathy NOT PMP22 copy number

Gene: VWA1

Amber List (moderate evidence)

VWA1 (von Willebrand factor A domain containing 1)
EnsemblGeneIds (GRCh38): ENSG00000179403
EnsemblGeneIds (GRCh37): ENSG00000179403
OMIM: 611901, Gene2Phenotype
VWA1 is in 2 panels

2 reviews

Sarah Leigh (Genomics England Curator)

Green List (high evidence)

Comment on list classification: There is enough evidence for this gene to be rated GREEN at the next major review.
Created: 12 Aug 2021, 2:13 p.m. | Last Modified: 12 Aug 2021, 2:13 p.m.
Panel Version: 1.41
Associated with relevant phenotype in OMIM, but not associated with phenotype in Gen2Phen. At least five variants reported in numerous unrelated cases (PMID 33559681; 33459760). Supportive Zebra fish morpholino studies have also been presented (PMID 33559681; 33015062).
Created: 12 Aug 2021, 2:12 p.m. | Last Modified: 12 Aug 2021, 2:12 p.m.
Panel Version: 1.40

Ian Berry (Leeds Genetics Laboratory)

Green List (high evidence)

17 individuals from 15 families, recurrent 10bp repeat allele causative in all patients. Detected in 100K so clearly tractable by WGS.
Sources: NHS GMS
Created: 14 Apr 2021, 9:54 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
axonal hereditary motor neuropathy; myopathy

Publications

Variants in this GENE are reported as part of current diagnostic practice

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
Phenotypes
  • Neuropathy, hereditary motor, with myopathic features OMIM:619216
  • neuropathy, hereditary motor, with myopathic features MONDO:0030977
Tags
Q3_21_rating Q3_21_NHS_review
OMIM
611901
Clinvar variants
Variants in VWA1
Penetrance
unknown
Publications
Panels with this gene

History Filter Activity

19 Aug 2021, Gel status: 2

Added Tag

Arina Puzriakova (Genomics England Curator)

Tag Q3_21_NHS_review tag was added to gene: VWA1.

12 Aug 2021, Gel status: 2

Set publications

Sarah Leigh (Genomics England Curator)

Publications for gene: VWA1 were set to 33559681; 33459760

12 Aug 2021, Gel status: 2

Entity classified by Genomics England curator

Sarah Leigh (Genomics England Curator)

Gene: vwa1 has been classified as Amber List (Moderate Evidence).

12 Aug 2021, Gel status: 0

Added Tag

Sarah Leigh (Genomics England Curator)

Tag Q3_21_rating tag was added to gene: VWA1.

12 Aug 2021, Gel status: 0

Set publications

Sarah Leigh (Genomics England Curator)

Publications for gene: VWA1 were set to 33559681

12 Aug 2021, Gel status: 0

Set publications

Sarah Leigh (Genomics England Curator)

Publications for gene: VWA1 were set to PMID: 33559681

12 Aug 2021, Gel status: 0

Set Phenotypes

Sarah Leigh (Genomics England Curator)

Phenotypes for gene: VWA1 were changed from axonal hereditary motor neuropathy; myopathy to Neuropathy, hereditary motor, with myopathic features OMIM:619216; neuropathy, hereditary motor, with myopathic features MONDO:0030977

14 Apr 2021, Gel status: 0

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

Ian Berry (Leeds Genetics Laboratory)

gene: VWA1 was added gene: VWA1 was added to Hereditary neuropathy NOT PMP22 copy number. Sources: NHS GMS Mode of inheritance for gene: VWA1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: VWA1 were set to PMID: 33559681 Phenotypes for gene: VWA1 were set to axonal hereditary motor neuropathy; myopathy Penetrance for gene: VWA1 were set to unknown Review for gene: VWA1 was set to GREEN gene: VWA1 was marked as current diagnostic