Activity
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18 actions
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| Hereditary neuropathy or pain disorder v6.165 | VWA1_GGCGCGGAGC | Sarah Leigh Tag STR tag was added to STR: VWA1_GGCGCGGAGC. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary neuropathy or pain disorder v6.165 | VWA1_GGCGCGGAGC |
Sarah Leigh STR: VWA1_GGCGCGGAGC was added STR: VWA1_GGCGCGGAGC was added to Hereditary neuropathy or pain disorder. Sources: Literature NGS Not Validated tags were added to STR: VWA1_GGCGCGGAGC. Mode of inheritance for STR: VWA1_GGCGCGGAGC was set to BIALLELIC, autosomal or pseudoautosomal Publications for STR: VWA1_GGCGCGGAGC were set to 33559681 Phenotypes for STR: VWA1_GGCGCGGAGC were set to Neuronopathy, distal hereditary motor, autosomal recessive 7, OMIM:619216; neuronopathy, distal hereditary motor, autosomal recessive 7, MONDO:0030977 Review for STR: VWA1_GGCGCGGAGC was set to GREEN Added comment: VWA1 is transcribed from the forward strand. VWA1_GGCGCGGAGC is on https://gnomad.broadinstitute.org/short-tandem-repeats?dataset=gnomad_r4 VWA1_GGCGCGGAGC is on https://stripy.org/database VWA1_GGCGCGGAGC is on DRAGON 4.02. The coordinates of the sequence repeats shown above were the same on the above resources. The non-pathogenic and pathogenic ranges of the sequence repeats shown above were obtained from: https://stripy.org/database and https://gnomad.broadinstitute.org/short-tandem-repeats?dataset=gnomad_r4 There is enough evidence for this STR to be green on this panel. This STR has not been approved by NHS STR working group and is not NGS Not Validated Sources: Literature |
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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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