| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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| Intellectual disability syndromic and non-syndromic v2.102 | DHX36 | chirag patel Marked gene: DHX36 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v2.102 | DHX36 | chirag patel Gene: dhx36 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v2.102 | DHX36 | chirag patel Classified gene: DHX36 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v2.102 | DHX36 | chirag patel Gene: dhx36 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v2.101 | DHX36 |
chirag patel gene: DHX36 was added gene: DHX36 was added to Intellectual disability syndromic and non-syndromic. Sources: Other Mode of inheritance for gene: DHX36 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: DHX36 were set to Neurodevelopmental disorder, MONDO:0700092, DHX36-related Mode of pathogenicity for gene: DHX36 was set to Other Review for gene: DHX36 was set to AMBER Added comment: ESHG 2026 3 unrelated individuals with 3 heterozygous de novo variants (2 missense, 1 in-frame deletion) located in the helicase domain of DHX36 gene. Individuals presented with global developmental delay (3), hypotonia (3), microcephaly (2), cleft palate (2), respiratory defects (3), cardiovascular abnormalities (3), and hearing impairment (2). DHX36 is an ATP-dependent G4 helicase which regulates G-quadruplexes (G4s), which are bulky DNA secondary structures that form naturally in GC-rich regions and can pose threats to genome integrity. Functional studies performed in in vitro, Xenopus egg extract and human cell based assays. DHX36 mutant proteins showed reduced ATPase and G4 unwinding activity, but retained G4 binding affinity. Mutant DHX36 also interfered with wild-type helicase activity, exerting a dominant-negative mechanism. Sources: Other |
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