Activity
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11 actions
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| Childhood onset hereditary spastic paraplegia v7.6 | RINT1 | Arina Puzriakova Tag Q3_24_promote_green was removed from gene: RINT1. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Childhood onset hereditary spastic paraplegia v7.6 | RINT1 | Arina Puzriakova reviewed gene: RINT1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Childhood onset hereditary spastic paraplegia v7.5 | RINT1 |
Arina Puzriakova Source Expert Review Green was added to RINT1. Source NHS GMS was added to RINT1. Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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| Childhood onset hereditary spastic paraplegia v6.7 | RINT1 | Achchuthan Shanmugasundram Classified gene: RINT1 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Childhood onset hereditary spastic paraplegia v6.7 | RINT1 | Achchuthan Shanmugasundram Added comment: Comment on list classification: Three unrelated cases and functional evidence are available in support of the association of this gene with early-onset hereditary spastic paraplegia. Hence, this gene can be promoted to green rating in the next GMS update. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Childhood onset hereditary spastic paraplegia v6.7 | RINT1 | Achchuthan Shanmugasundram Gene: rint1 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Childhood onset hereditary spastic paraplegia v6.6 | RINT1 | Achchuthan Shanmugasundram Phenotypes for gene: RINT1 were changed from HSP to hereditary spastic paraplegia, MONDO:0019064 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Childhood onset hereditary spastic paraplegia v6.5 | RINT1 | Achchuthan Shanmugasundram Publications for gene: RINT1 were set to PMID: 38990652 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Childhood onset hereditary spastic paraplegia v6.4 | RINT1 | Achchuthan Shanmugasundram Tag Q3_24_promote_green tag was added to gene: RINT1. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Childhood onset hereditary spastic paraplegia v6.4 | RINT1 | Achchuthan Shanmugasundram reviewed gene: RINT1: Rating: GREEN; Mode of pathogenicity: None; Publications: 37463447, 38990652; Phenotypes: hereditary spastic paraplegia, MONDO:0019064; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Childhood onset hereditary spastic paraplegia v6.1 | RINT1 |
Dmitrijs Rots gene: RINT1 was added gene: RINT1 was added to Childhood onset hereditary spastic paraplegia. Sources: Literature Mode of inheritance for gene: RINT1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: RINT1 were set to PMID: 38990652 Phenotypes for gene: RINT1 were set to HSP Review for gene: RINT1 was set to GREEN Added comment: The PMID: 38990652 reports fourth case with HSP and bialellic RINT1 variants. They also note: "The exon-intron boundaries around intron 11 may represent a mutational hotspot, given variation at c.1671+2 and c.1672-1 in all reported cases thus far." Enough evidence for the green rating! Sources: Literature |
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