| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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| Lysosomal Storage Disorder v1.19 | SIDT2 | Zornitza Stark Marked gene: SIDT2 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Lysosomal Storage Disorder v1.19 | SIDT2 | Zornitza Stark Gene: sidt2 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Lysosomal Storage Disorder v1.19 | SIDT2 | Zornitza Stark Classified gene: SIDT2 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Lysosomal Storage Disorder v1.19 | SIDT2 | Zornitza Stark Gene: sidt2 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Lysosomal Storage Disorder v1.18 | SIDT2 |
Zornitza Stark gene: SIDT2 was added gene: SIDT2 was added to Lysosomal Storage Disorder. Sources: Literature Mode of inheritance for gene: SIDT2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: SIDT2 were set to 40541391 Phenotypes for gene: SIDT2 were set to Lysosomal storage disease, MONDO:0002561, SIDT2-related Review for gene: SIDT2 was set to AMBER Added comment: Encodes a lysosomal membrane protein involved in trafficking of RNA into the lysosome for degradation via RNAutophagy. 1 affected individual described in PMID: 40541391 with two variants in SIDT2 presenting with progressive neurological decline in childhood with poor coordination, dysarthria, ataxia, cerebellar atrophy and cognitive decline. One variant confirmed to be maternally inherited, the other inheritance was unknown due to lack of availability of family members (as such phase not confirmed). Variants were c.1586G>A (?listed as p.Arg529Trp however protein consequence should be p.Arg529Gln) and c.2032C>T|p.Arg678Trp. Functional studies of patient fibroblasts showed markers of autophagy impairment and mouse models with reduced expression of SIDT2 had signs of progressive incoordination. LOF proposed mechanism. Supportive mouse model Sources: Literature |
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