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| Mendeliome v1.3971 | SEC24C | Zornitza Stark Marked gene: SEC24C as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v1.3971 | SEC24C | Zornitza Stark Gene: sec24c has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v1.3971 | SEC24C |
Zornitza Stark gene: SEC24C was added gene: SEC24C was added to Mendeliome. Sources: Literature Mode of inheritance for gene: SEC24C was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: SEC24C were set to 40131364 Phenotypes for gene: SEC24C were set to Neurodevelopmental disorder, MONDO:0700092, SEC24C-related Review for gene: SEC24C was set to RED Added comment: PMID 40131364 reports 4 individuals from a consanguineous Turkish family with biallelic loss-of-function frameshift c.333del (p.Ser112Profs*115) variant presenting with neonatal‑onset severe syndromic epileptic encephalopathy, congenital cataracts, primary microcephaly, macrocytic anaemia, sensorineural hearing loss, liver dysfunction and dysmorphic facial features. The variant segregates with autosomal recessive inheritance and functional studies in patient fibroblasts and zebrafish knockouts demonstrate >90% loss of SEC24C expression, impaired ER‑Golgi trafficking and recapitulation of cataract and neurodevelopmental phenotypes. Sources: Literature |
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