| 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 v2.0 | DSP | Gene migrated from ENSG00000096696 to ENSG00000096696 (gene set migration) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.1729 | Zornitza Stark removed gene:DSPP from the panel | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.542 | DSP | Zornitza Stark Marked gene: DSP as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.542 | DSP | Zornitza Stark Gene: dsp has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.542 | DSP | Zornitza Stark Phenotypes for gene: DSP were changed from Arrhythmogenic right ventricular dysplasia 8 607450; Dilated cardiomyopathy with woolly hair, keratoderma, and tooth agenesis 615821; Skin fragility-woolly hair syndrome 607655; Epidermolysis bullosa, lethal acantholytic 609638; Cardiomyopathy, dilated, with woolly hair and keratoderma 605676; Keratosis palmoplantaris striata II, 612908 to Dilated cardiomyopathy with woolly hair, keratoderma, and tooth agenesis, MIM# 615821; Cardiomyopathy, dilated, with woolly hair and keratoderma, MIM# 605676; Epidermolysis bullosa, lethal acantholytic, MIM# 609638 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.541 | DSP | Zornitza Stark Publications for gene: DSP were set to 30993396 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.540 | DSP | Zornitza Stark reviewed gene: DSP: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.535 | DSP | Belinda Chong reviewed gene: DSP: Rating: GREEN; Mode of pathogenicity: None; Publications: 16467215,23137101,26604139, 22795705,31983221,24108106,16175511,20302578,20613772; Phenotypes: Dilated cardiomyopathy with woolly hair, keratoderma, and tooth agenesis, MIM# 615821, Cardiomyopathy, dilated, with woolly hair and keratoderma, MIM# 605676; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal; Current diagnostic: yes | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.0 | DSPP |
Zornitza Stark gene: DSPP was added gene: DSPP was added to Fetal anomalies. Sources: Expert Review Red,Genomics England PanelApp Mode of inheritance for gene: DSPP was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: DSPP were set to DENTINOGENESIS IMPERFECTA, SHIELDS TYPE II; DEAFNESS AUTOSOMAL DOMINANT TYPE 39 WITH DENTINOGENESIS IMPERFECTA 1 |
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| Fetal anomalies v0.0 | DSP |
Zornitza Stark gene: DSP was added gene: DSP was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp Mode of inheritance for gene: DSP was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Publications for gene: DSP were set to 30993396 Phenotypes for gene: DSP were set to Arrhythmogenic right ventricular dysplasia 8 607450; Dilated cardiomyopathy with woolly hair, keratoderma, and tooth agenesis 615821; Skin fragility-woolly hair syndrome 607655; Epidermolysis bullosa, lethal acantholytic 609638; Cardiomyopathy, dilated, with woolly hair and keratoderma 605676; Keratosis palmoplantaris striata II, 612908 |
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