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| Intellectual disability syndromic and non-syndromic v2.95 | XPO7 | chirag patel Marked gene: XPO7 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v2.95 | XPO7 | chirag patel Gene: xpo7 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v2.95 | XPO7 | chirag patel Classified gene: XPO7 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v2.95 | XPO7 | chirag patel Gene: xpo7 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v2.94 | XPO7 |
chirag patel gene: XPO7 was added gene: XPO7 was added to Intellectual disability syndromic and non-syndromic. Sources: Other Mode of inheritance for gene: XPO7 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: XPO7 were set to Neurodevelopmental disorder, MONDO:0700092, XPO7-related Review for gene: XPO7 was set to AMBER Added comment: ESHG 2026 25 unrelated individuals with 19 different heterozygous variants in XPO7 (10 missense, 3 splice, 6 truncating). The R756W variant occurred in 6 unrelated individuals. Inheritance of variants was de novo (21), inherited (2), or unknown (1). Individuals presented with mild to severe developmental delay/intellectual disability (24/25), behavioural disturbances (17/24), nonspecific brain abnormalities (9/17), epilepsy (4/25), overweight (7/22), and other variable congenital anomalies. XPO7 encodes a nuclear transport receptor. The R756W knock-in mouse model exhibited reduced XPO7 protein levels, reduced brain volume, decreased dendritic complexity, diminished excitatory synaptic transmission, and altered anxiety-related behaviour. Sources: Other |
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