| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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| Hereditary Spastic Paraplegia - paediatric v1.68 | RINT1 | Zornitza Stark Marked gene: RINT1 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary Spastic Paraplegia - paediatric v1.68 | RINT1 | Zornitza Stark Gene: rint1 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary Spastic Paraplegia - paediatric v1.68 | RINT1 | Zornitza Stark Phenotypes for gene: RINT1 were changed from Hereditary spastic paraplegia, MONDO:0019064, RINT1-related to Infantile liver failure syndrome 3, MIM# 618641; Hereditary spastic paraplegia, MONDO:0019064, RINT1-related | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary Spastic Paraplegia - paediatric v1.67 | RINT1 | Zornitza Stark Classified gene: RINT1 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary Spastic Paraplegia - paediatric v1.67 | RINT1 | Zornitza Stark Gene: rint1 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary Spastic Paraplegia - paediatric v1.66 | RINT1 |
Chern Lim gene: RINT1 was added gene: RINT1 was added to Hereditary Spastic Paraplegia - paediatric. Sources: Literature Mode of inheritance for gene: RINT1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: RINT1 were set to 37463447 Phenotypes for gene: RINT1 were set to Hereditary spastic paraplegia, MONDO:0019064, RINT1-related Review for gene: RINT1 was set to AMBER gene: RINT1 was marked as current diagnostic Added comment: PMID: 37463447 - 3 individuals from 2 unrelated families with biallelic LoF variants - hom canonical spice variant in 1 family, chet stopgain+canonical splice variants in another family. - Affected individuals presented with early onset spastic paraplegia, ataxia, optic nerve hypoplasia, and dysmorphic features, broadening the previously described phenotype. - One of the individual died at 14 months due to acute liver failure, probably before the development of a neurological phenotype. The episodic liver dysfunction two other patients was very similar to that previously reported in PMID: 31204009. - RNA studies showed the splice variants result in aberrant splicing. Other functional and lipidomic analyses supportive of pathogenicity. Sources: Literature |
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