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| Hereditary spastic paraplegia v1.185 | ERLIN1 | Rebecca Foulger Classified gene: ERLIN1 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary spastic paraplegia v1.185 | ERLIN1 | Rebecca Foulger Added comment: Comment on list classification: Updated rating from Amber to Green after clinical advice from Helen Brittain, who notes that "the phenotype is certainly appropriate, it meets our guidance on number of unrelated families and >1 variant therefore it seems appropriate for a green rating. Re the nomenclature: (6-bp deletion, c.862_868delACCAGG) c.862_868del would usually indicate that 862-868 inclusive is deleted which would be 7bp... However they then wrote 6 nucleotides afterwards. If it is 6bp deleted it could be in frame (they have indicated deletion YQ) so I am not sure. On balance I think it is worth including." | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary spastic paraplegia v1.185 | ERLIN1 | Rebecca Foulger Gene: erlin1 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary spastic paraplegia v1.180 | ERLIN1 | Rebecca Foulger Classified gene: ERLIN1 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary spastic paraplegia v1.180 | ERLIN1 | Rebecca Foulger Added comment: Comment on list classification: Updated rating from Green to Amber awaiting further clinical review. A note of caution: OMIM states that in the article by Novarino et al. (2014), the nomenclature for the mutation in family 1598 was inconsistent, i.e., a 6-bp deletion, c.862_868delACCAGG. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary spastic paraplegia v1.180 | ERLIN1 | Rebecca Foulger Gene: erlin1 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary spastic paraplegia v1.163 | ERLIN1 | Rebecca Foulger Phenotypes for gene: ERLIN1 were changed from Hereditary spastic paraplegia to Hereditary spastic paraplegia; Spastic paraplegia 62, 615681 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary spastic paraplegia v1.162 | ERLIN1 | Rebecca Foulger Classified gene: ERLIN1 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary spastic paraplegia v1.162 | ERLIN1 | Rebecca Foulger Added comment: Comment on list classification: Updated rating from Red to Green based on expert review and literature evidence. Gene added to panel and rated green by Alistair Pagnamenta (University of Oxford) based on PMID:24482476 which identified 7 HSP individuals from 3 families with homozygous variants in ERLIN1. Full phenotypes of affected individuals are supplied in the supplementary material. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary spastic paraplegia v1.162 | ERLIN1 | Rebecca Foulger Gene: erlin1 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary spastic paraplegia v1.161 | ERLIN1 | Rebecca Foulger commented on gene: ERLIN1 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary spastic paraplegia v1.134 | ERLIN1 | Sarah Leigh Classified gene: ERLIN1 as Red List (low evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary spastic paraplegia v1.134 | ERLIN1 | Sarah Leigh Added comment: Comment on list classification: This gene is awaiting curator evaluation and rating. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary spastic paraplegia v1.134 | ERLIN1 | Sarah Leigh Gene: erlin1 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary spastic paraplegia v1.72 | ERLIN1 | Rebecca Foulger Publications for gene: ERLIN1 were set to PMID: 24482476 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary spastic paraplegia v1.71 | ERLIN1 | Alistair Pagnamenta commented on gene: ERLIN1: Novarino et al (2014) reported 7 affected individuals from 3 different consanguineous families had homozygous variants in this gene co-segregating consistent with an AR mode of inheritance. In the first of these families, significant evidence for genetic linkage was identified on 10q (pLOD >3.0) and this region harboured p.R255X (see PMID: 24482476) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary spastic paraplegia v1.71 | ERLIN1 |
Alistair Pagnamenta gene: ERLIN1 was added gene: ERLIN1 was added to Hereditary spastic paraplegia. Sources: Other Mode of inheritance for gene: ERLIN1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: ERLIN1 were set to PMID: 24482476 Phenotypes for gene: ERLIN1 were set to Hereditary spastic paraplegia Penetrance for gene: ERLIN1 were set to unknown Review for gene: ERLIN1 was set to GREEN Added comment: Sources: Other |
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