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| Hereditary neuropathy v1.408 | JAG1 | Arina Puzriakova Tag watchlist tag was added to gene: JAG1. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary neuropathy v1.408 | JAG1 | Arina Puzriakova Phenotypes for gene: JAG1 were changed from Vocal cord palsy to Vocal cord palsy; Peripheral neuropathy | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary neuropathy v1.407 | JAG1 | Arina Puzriakova Classified gene: JAG1 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary neuropathy v1.407 | JAG1 |
Arina Puzriakova Added comment: Comment on list classification: New gene added by Alexander Rossor (UCL). Sullivan et al., 2020 (PMID:32065591) report two unrelated families with segregation, presenting vocal fold paresis. Knock in mouse model showed slight but nonsignificant reduction in compound muscle action potential and morphological assessments of the recurrent laryngeal nerve were normal. Mice did however display an increased frequency of axons with focally folded myelin. Notably, variants in JAG1 are associated with several phenotypes that have not included neuropathy and there was no history of cardiac, kidney, or liver disease in affected individuals in either of the two families discussed here (possibly different mechanisms of pathogenesis but further investigation may be warranted). At this point there is not enough evidence to add this gene as diagnostic-grade; however, additional cases would corroborate this gene-disease association - rating Amber with 'watchlist' tag. |
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| Hereditary neuropathy v1.407 | JAG1 | Arina Puzriakova Gene: jag1 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary neuropathy v1.383 | JAG1 |
Alexander Rossor gene: JAG1 was added gene: JAG1 was added to Hereditary neuropathy. Sources: Expert list Mode of inheritance for gene: JAG1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: JAG1 were set to PMID: 32065591 Phenotypes for gene: JAG1 were set to Vocal cord palsy Penetrance for gene: JAG1 were set to Complete Mode of pathogenicity for gene: JAG1 was set to Other Review for gene: JAG1 was set to AMBER Added comment: Two unrelated families with segregation but no definite neuropathy in knock in mouse model Sources: Expert list |
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