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| Hereditary neuropathy or pain disorder v3.60 | VAPB | Achchuthan Shanmugasundram Tag Q2_23_promote_green was removed from gene: VAPB. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary neuropathy or pain disorder v3.58 | VAPB | Sarah Leigh reviewed gene: VAPB: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary neuropathy or pain disorder v3.57 | VAPB |
Achchuthan Shanmugasundram Source Expert Review Green was added to VAPB. Source NHS GMS was added to VAPB. Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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| Hereditary neuropathy or pain disorder v3.18 | VAPB | Achchuthan Shanmugasundram Tag Q2_23_promote_green tag was added to gene: VAPB. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary neuropathy or pain disorder v3.18 | VAPB | Achchuthan Shanmugasundram Classified gene: VAPB as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary neuropathy or pain disorder v3.18 | VAPB | Achchuthan Shanmugasundram Added comment: Comment on list classification: There is sufficient evidence (>3 unrelated cases & functional studies from mouse models) for this gene to be promoted to GREEN at the next major review. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary neuropathy or pain disorder v3.18 | VAPB | Achchuthan Shanmugasundram Gene: vapb has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary neuropathy or pain disorder v3.17 | VAPB | Achchuthan Shanmugasundram Phenotypes for gene: VAPB were changed from Adult proximal spinal muscular atrophy, autosomal dominant; dHMN/dSMA; Spinal muscular atrophy, late-onset, Finkel type, MIM# 182980 to Spinal muscular atrophy, late-onset, Finkel type, OMIM:182980; Amyotrophic lateral sclerosis 8, OMIM:608627 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary neuropathy or pain disorder v3.16 | VAPB | Achchuthan Shanmugasundram Publications for gene: VAPB were set to 15372378; 32162544; 28993872; 28173107; 26566915 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary neuropathy or pain disorder v3.15 | VAPB | Achchuthan Shanmugasundram reviewed gene: VAPB: Rating: GREEN; Mode of pathogenicity: None; Publications: 15372378, 20940299, 28173107, 28993872, 3216254; Phenotypes: Spinal muscular atrophy, late-onset, Finkel type, OMIM:182980, Amyotrophic lateral sclerosis 8, OMIM:608627; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary neuropathy or pain disorder v1.4 | VAPB |
Zornitza Stark gene: VAPB was added gene: VAPB was added to Hereditary neuropathy NOT PMP22 copy number. Sources: Expert list Mode of inheritance for gene: VAPB was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: VAPB were set to 15372378; 32162544; 28993872; 28173107; 26566915 Phenotypes for gene: VAPB were set to Adult proximal spinal muscular atrophy, autosomal dominant; dHMN/dSMA; Spinal muscular atrophy, late-onset, Finkel type, MIM# 182980 Review for gene: VAPB was set to GREEN Added comment: p.P56S variant found in multiple families from different ethnicities but additional variant also reported; functional data. Sources: Expert list |
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