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| Mendeliome v1.3885 | SORCS2 | Zornitza Stark Marked gene: SORCS2 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v1.3885 | SORCS2 | Zornitza Stark Gene: sorcs2 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v1.3885 | SORCS2 |
Zornitza Stark gene: SORCS2 was added gene: SORCS2 was added to Mendeliome. Sources: Literature Mode of inheritance for gene: SORCS2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: SORCS2 were set to 39810752 Phenotypes for gene: SORCS2 were set to Neurodevelopmental disorder, MONDO:0700092, SORCS2-related Review for gene: SORCS2 was set to RED Added comment: PMID 39810752 reports one individual with a de novo heterozygous missense SORCS2 variant (c.2614C>T, p.Pro872Ser) presenting with neonatal encephalopathy and refractory seizures. Cell‑based assays demonstrate disrupted SorCS2 dimerization and mislocalization, supporting a loss‑of‑function mechanism. Variant is absent from gnomAD. Sources: Literature |
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