Hereditary neuropathy or pain disorder
Gene: VWA1
The rating of this gene has been updated following NHS Genomic Medicine Service approval.Created: 14 Mar 2022, 1:08 p.m. | Last Modified: 14 Mar 2022, 1:08 p.m.
Panel Version: 1.88
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
17 individuals from 15 families, recurrent 10bp repeat allele causative in all patients. Detected in 100K so clearly tractable by WGS.
Sources: NHS GMSCreated: 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
Phenotypes for gene: VWA1 were changed from Neuropathy, hereditary motor, with myopathic features OMIM:619216; neuropathy, hereditary motor, with myopathic features MONDO:0030977 to Neuronopathy, distal hereditary motor, autosomal recessive 7, OMIM:619216; neuronopathy, distal hereditary motor, autosomal recessive 7, MONDO:0030977
Tag STR tag was added to gene: VWA1.
Tag Q3_21_rating was removed from gene: VWA1. Tag Q3_21_NHS_review was removed from gene: VWA1.
Source Expert Review Green was added to VWA1. Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Tag Q3_21_NHS_review tag was added to gene: VWA1.
Publications for gene: VWA1 were set to 33559681; 33459760
Gene: vwa1 has been classified as Amber List (Moderate Evidence).
Tag Q3_21_rating tag was added to gene: VWA1.
Publications for gene: VWA1 were set to 33559681
Publications for gene: VWA1 were set to PMID: 33559681
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
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