Activity
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12 actions
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| Hereditary spastic paraplegia v1.121 | FARS2 | Rebecca Foulger Classified gene: FARS2 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary spastic paraplegia v1.121 | FARS2 | Rebecca Foulger Added comment: Comment on list classification: Updated rating from Grey to Green: Gene added and rated green by Chris Buxton (Bristol NHS). At least 4 unrelated cases of FARS2 variants causing autosomal recessive HSP in the literature (PMIDs 30250868,26553276,25851414,29126765) plus functional support. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary spastic paraplegia v1.121 | FARS2 | Rebecca Foulger Gene: fars2 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary spastic paraplegia v1.120 | FARS2 | Rebecca Foulger commented on gene: FARS2: In 2 unrelated patients with mitochondrial dysfunction and spastic paraplegia, Vantroys et al. (2017, PMID:29126765) identified compound heterozygous variants in the FARS2 gene: (c.1082C-T, NM_006567.4, P361L) in both probands, combined with A154V in proband 1, and a 3-bp deletion (c.521_523delTGG) in proband 2. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary spastic paraplegia v1.120 | FARS2 | Rebecca Foulger commented on gene: FARS2: In 2 sibs with mitochondrial dysfunction and spastic paraplegia, Vernon et al. (2015, PMID:25851414) identified compound het variants in the FARS2 gene: a paternally inherited R419C and a maternally inherited 116-kb interstitial deletion including all of exon 6 and parts of introns 5 and 6. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary spastic paraplegia v1.120 | FARS2 | Rebecca Foulger commented on gene: FARS2: In 4 sibs, born of consanguineous Chinese parents, with AR spastic paraplegia, Yang et al. (2016, PMID:26553276) identified a homozygous transversion (c.424G-T, NM_006567.3) in the FARS2 gene (D142Y). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary spastic paraplegia v1.120 | FARS2 | Rebecca Foulger commented on gene: FARS2 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary spastic paraplegia v1.120 | FARS2 | Rebecca Foulger Publications for gene: FARS2 were set to 30250868; 26553276; 29126765 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary spastic paraplegia v1.119 | FARS2 | Rebecca Foulger Phenotypes for gene: FARS2 were changed from spastic paraplegia to Spastic paraplegia 77, autosomal recessive, 617046 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary spastic paraplegia v1.118 | FARS2 | Rebecca Foulger Publications for gene: FARS2 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary spastic paraplegia v1.71 | FARS2 | Chris Buxton edited their review of gene: FARS2: Changed publications: 30250868, 26553276, 29126765 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary spastic paraplegia v1.71 | FARS2 |
Chris Buxton gene: FARS2 was added gene: FARS2 was added to Hereditary spastic paraplegia. Sources: Literature Mode of inheritance for gene: FARS2 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: FARS2 were set to spastic paraplegia Penetrance for gene: FARS2 were set to unknown Review for gene: FARS2 was set to GREEN Added comment: Sahai (2018, 30250868) FARS2 cpd hhet with pure spastic paraplegia syndrome associated with bilateral signal abnormalities in the dentate nuclei. Biochemical evalutatoin showed impacts on activity of impacted enzyme . Yang (2016, 26553276), FARS cpd het on exome study, functional studies supportive. Phenotype is Spastic Paraplegia. Vantroys (2017, 29126765) writes that FARS can be associated with (i) an epileptic phenotype, and (ii) a spastic paraplegia phenotype. Descroibes 2 probands with phenotype including spasticity with cpd het varaints in FARs Sources: Literature |
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