| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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| Fetal anomalies v2.54 | NUAK1 |
chirag patel changed review comment from: 7 individuals from 5 unrelated consanguineous families with craniofacial dysmorphism (hypertelorism, DSPF, dental anomalies), neurodevelopmental issues, and omphalocele (2 families with LOF variants). WES identified 5 different homozygous variants (3 missense, 1 nonsense, 1 splice) which segregated with disease. NUAK1 has a kinase function and all variants were located in the kinase domain. Patient fibroblast assays showed reduced transcript and loss of NUAK1 protein for LOF variants. The missense variants had increased transcript and protein levels but had reduced kinase activity. Mouse models show abdominal wall defects. Xenopus models showed craniofacial defects and ventral body wall defects. Sources: Other; to: ESHG 2026 7 individuals from 5 unrelated consanguineous families with craniofacial dysmorphism (hypertelorism, DSPF, dental anomalies), neurodevelopmental issues, and omphalocele (2 families with LOF variants). WES identified 5 different homozygous variants (3 missense, 1 nonsense, 1 splice) which segregated with disease. NUAK1 has a kinase function and all variants were located in the kinase domain. Patient fibroblast assays showed reduced transcript and loss of NUAK1 protein for LOF variants. The missense variants had increased transcript and protein levels but had reduced kinase activity. Mouse models show abdominal wall defects. Xenopus models showed craniofacial defects and ventral body wall defects. Sources: Other |
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| Fetal anomalies v2.54 | NUAK1 | chirag patel Marked gene: NUAK1 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v2.54 | NUAK1 | chirag patel Gene: nuak1 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v2.54 | chirag patel Copied gene NUAK1 from panel Intellectual disability syndromic and non-syndromic | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v2.54 | NUAK1 |
chirag patel gene: NUAK1 was added gene: NUAK1 was added to Fetal anomalies. Sources: Expert Review Amber,Other Mode of inheritance for gene: NUAK1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: NUAK1 were set to Syndromic disease, MONDO: 0002254 |
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