Hereditary Neuropathy_CMT - isolated
Gene: VWA1
VWA1 (von Willebrand factor A domain containing 1)
EnsemblGeneIds (GRCh38): ENSG00000179403
EnsemblGeneIds (GRCh37): ENSG00000179403
OMIM: 611901, Gene2Phenotype
VWA1 is in 3 panels
EnsemblGeneIds (GRCh38): ENSG00000179403
EnsemblGeneIds (GRCh37): ENSG00000179403
OMIM: 611901, Gene2Phenotype
VWA1 is in 3 panels
1 review
Melanie Marty (Victorian Clinical Genetics Services)
Six different truncating variants identified in 15 affected individuals from six families (biallelic inheritance). Disease manifested in childhood or adulthood with proximal and distal muscle weakness predominantly of the lower limbs. Myopathological and neurophysiological findings were indicative of combined neurogenic and myopathic pathology. Early childhood foot deformity was frequent, but no sensory signs were observed.
An additional 17 individuals from 15 families with hereditary motor neuropathy were identified. A 10-bp repeat expansion at the end of exon 1 was observed in 14 families and was homozygous in 10 of them. This mutation, c.62_71dup [p.Gly25Argfs*74], leads to a frameshift that results in a reduction in VWA1 transcript levels via nonsense-mediated decay.
Sources: LiteratureCreated: 12 Apr 2021, 6:12 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Hereditary motor neuropathy
Publications
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- Phenotypes
-
- Hereditary motor neuropathy
- OMIM
- 611901
- Clinvar variants
- Variants in VWA1
- Penetrance
- None
- Publications
- Panels with this gene
History Filter Activity
12 Apr 2021, Gel status: 3
Entity classified by Genomics England curator
Alison Yeung (Victorian Clinical Genetics Services)Gene: vwa1 has been classified as Green List (High Evidence).
12 Apr 2021, Gel status: 3
Entity classified by Genomics England curator
Alison Yeung (Victorian Clinical Genetics Services)Gene: vwa1 has been classified as Green List (High Evidence).
12 Apr 2021, Gel status: 0
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes
Melanie Marty (Victorian Clinical Genetics Services)gene: VWA1 was added gene: VWA1 was added to Hereditary Neuropathy_CMT - isolated. Sources: Literature Mode of inheritance for gene: VWA1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: VWA1 were set to 33459760; 33693694; 33559681 Phenotypes for gene: VWA1 were set to Hereditary motor neuropathy