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| Mendeliome v2.252 | GAS6 | Zornitza Stark Marked gene: GAS6 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v2.252 | GAS6 | Zornitza Stark Gene: gas6 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v2.252 | GAS6 |
Zornitza Stark gene: GAS6 was added gene: GAS6 was added to Mendeliome. Sources: Literature Mode of inheritance for gene: GAS6 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: GAS6 were set to 41612647 Phenotypes for gene: GAS6 were set to Neurodevelopmental disorder, MONDO:0700092, GAS6-related Review for gene: GAS6 was set to RED Added comment: PMID 41612647 reports an individual with autosomal recessive loss-of-function GAS6 (c.444G>A, p.Trp148Ter) presenting with a childhood‑onset demyelinating disorder characterised by progressive motor dysfunction, spasticity, seizures and cognitive decline. Functional studies in patient fibroblasts and GAS6‑silenced oligodendrocyte cells revealed loss of GAS6 expression, reduced TAM‑receptor signalling and impaired myelin‑related gene expression; wild‑type GAS6 rescued these deficits, supporting loss‑of‑function as the disease mechanism. Sources: Literature |
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