| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Mendeliome v1.3505 | SLC27A3 | Zornitza Stark Marked gene: SLC27A3 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v1.3505 | SLC27A3 | Zornitza Stark Gene: slc27a3 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v1.3500 | SLC27A3 |
Sarah Milton gene: SLC27A3 was added gene: SLC27A3 was added to Mendeliome. Sources: Literature Mode of inheritance for gene: SLC27A3 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: SLC27A3 were set to PMID: 41054338 Phenotypes for gene: SLC27A3 were set to Inherited neurodegenerative disorder, MONDO:0024237, SLC27A3-related Review for gene: SLC27A3 was set to RED Added comment: SLC27A3 encodes for very long chain acyl CoA synthetase 3 which function to catalyse the formation of fatty acyl coA using long and very long chain fatty acids as substrates. PMID: 41054338 describes one individual with a presumed homozgous stop gain variant in SLC27A3 who presented with progressive ataxia, optic atrophy, cognitive deterioration, mood disorder and progressive cortical atrophy on MRI-B. Onset of symptoms at 18 months with significant progression from 12 years of age. Duo exome testing performed (not segregated in both parents). No homozygous LOF variants in gnomAD v4. Some supportive functional data in paper with no protein expressed in patient cells as detected by western blot and patient's cells were found to have more neutral lipids than controls. More literature is required to increase the robustness of this assertion. Sources: Literature |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||