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| Hereditary neuropathy or pain disorder v3.83 | VWA1 | Eleanor Williams 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 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary neuropathy or pain disorder v3.56 | VWA1 | Sarah Leigh Tag STR tag was added to gene: VWA1. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary neuropathy or pain disorder v1.88 | VWA1 |
Ivone Leong Tag Q3_21_rating was removed from gene: VWA1. Tag Q3_21_NHS_review was removed from gene: VWA1. |
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| Hereditary neuropathy or pain disorder v1.88 | VWA1 | Sarah Leigh commented on gene: VWA1: The rating of this gene has been updated following NHS Genomic Medicine Service approval. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary neuropathy or pain disorder v1.87 | VWA1 |
Ivone Leong Source Expert Review Green was added to VWA1. Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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| Hereditary neuropathy or pain disorder v1.48 | VWA1 | Arina Puzriakova Tag Q3_21_NHS_review tag was added to gene: VWA1. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary neuropathy or pain disorder v1.42 | VWA1 | Sarah Leigh Publications for gene: VWA1 were set to 33559681; 33459760 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary neuropathy or pain disorder v1.41 | VWA1 | Sarah Leigh Classified gene: VWA1 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary neuropathy or pain disorder v1.41 | VWA1 | Sarah Leigh Added comment: Comment on list classification: There is enough evidence for this gene to be rated GREEN at the next major review. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary neuropathy or pain disorder v1.41 | VWA1 | Sarah Leigh Gene: vwa1 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary neuropathy or pain disorder v1.40 | VWA1 | Sarah Leigh reviewed gene: VWA1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary neuropathy or pain disorder v1.40 | VWA1 | Sarah Leigh Tag Q3_21_rating tag was added to gene: VWA1. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary neuropathy or pain disorder v1.40 | VWA1 | Sarah Leigh Publications for gene: VWA1 were set to 33559681 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary neuropathy or pain disorder v1.39 | VWA1 | Sarah Leigh Publications for gene: VWA1 were set to PMID: 33559681 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary neuropathy or pain disorder v1.38 | VWA1 | Sarah Leigh 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 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary neuropathy or pain disorder v1.25 | VWA1 |
Ian Berry 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 Added comment: 17 individuals from 15 families, recurrent 10bp repeat allele causative in all patients. Detected in 100K so clearly tractable by WGS. Sources: NHS GMS |
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