Activity
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9 actions
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| Hereditary neuropathy or pain disorder v7.39 | CHRNA3 | Ida Ertmanska Tag Q1_26_promote_green tag was added to gene: CHRNA3. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary neuropathy or pain disorder v7.39 | CHRNA3 | Ida Ertmanska Classified gene: CHRNA3 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary neuropathy or pain disorder v7.39 | CHRNA3 | Ida Ertmanska Added comment: Comment on list classification: There are more than 3 individuals reported in literature with an autonomic nervous system disorder and biallelic CHRNA3 variants. Individuals presented with severe orthostatic hypotension, nonreactive pupils, constipation, and bladder dysfunction. Hence, CHRNA3 should be promoted to Green at the next update. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary neuropathy or pain disorder v7.39 | CHRNA3 | Ida Ertmanska Gene: chrna3 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary neuropathy or pain disorder v7.38 | CHRNA3 | Ida Ertmanska Phenotypes for gene: CHRNA3 were changed from Familial Autonomic Ganglionopathy to Bladder dysfunction, autonomic, with impaired pupillary reflex and secondary CAKUT, OMIM:191800; autonomic nervous system disorder, MONDO:0001292 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary neuropathy or pain disorder v7.37 | CHRNA3 | Ida Ertmanska Publications for gene: CHRNA3 were set to PMID: 33947782; 37161764 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary neuropathy or pain disorder v7.36 | CHRNA3 | Ida Ertmanska edited their review of gene: CHRNA3: Changed rating: GREEN; Changed mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary neuropathy or pain disorder v7.36 | CHRNA3 | Ida Ertmanska reviewed gene: CHRNA3: Rating: ; Mode of pathogenicity: None; Publications: 38192228, 37161764, 33947782, 31708116; Phenotypes: Bladder dysfunction, autonomic, with impaired pupillary reflex and secondary CAKUT, OMIM:191800; Mode of inheritance: None | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary neuropathy or pain disorder v7.36 | CHRNA3 |
Dmitrijs Rots gene: CHRNA3 was added gene: CHRNA3 was added to Hereditary neuropathy or pain disorder. Sources: Literature Mode of inheritance for gene: CHRNA3 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: CHRNA3 were set to PMID: 33947782; 37161764 Phenotypes for gene: CHRNA3 were set to Familial Autonomic Ganglionopathy Review for gene: CHRNA3 was set to GREEN Added comment: 4 cases from 3 families are reported with biallelic LoF variants in the CHRNA3 causing familial dysautonomia: PMID: 33947782;37161764 Sources: Literature |
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