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| Mendeliome v1.3912 | EXOSC4 | Zornitza Stark Marked gene: EXOSC4 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v1.3912 | EXOSC4 | Zornitza Stark Gene: exosc4 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v1.3912 | EXOSC4 | Zornitza Stark Classified gene: EXOSC4 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v1.3912 | EXOSC4 | Zornitza Stark Gene: exosc4 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v1.3911 | EXOSC4 |
Zornitza Stark gene: EXOSC4 was added gene: EXOSC4 was added to Mendeliome. Sources: Literature Mode of inheritance for gene: EXOSC4 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: EXOSC4 were set to 39009343; 37961665; 36344539 Phenotypes for gene: EXOSC4 were set to Neurodevelopmental disorder, MONDO:0700092 Review for gene: EXOSC4 was set to AMBER Added comment: PMID 37961665, 39009343 and 39982806 all report the same family with two affected siblings and a homozygous missense p.Leu187Pro variant. Reported clinical features include severe neurodevelopmental disorder with prenatal growth restriction, failure to thrive, global developmental delay, intracerebral/basal‑ganglia calcifications, renal failure and brain atrophy. Functional data in yeast and mammalian cells support pathogenicity. One additional family (PMID 36344539) reported with brain atrophy but limited other detail. Sources: Literature |
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