Activity
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6 actions
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| Fetal anomalies v0.3502 | SLIT2 |
Krithika Murali gene: SLIT2 was added gene: SLIT2 was added to Fetal anomalies. Sources: Literature Mode of inheritance for gene: SLIT2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: SLIT2 were set to 26026792; 15130495 Phenotypes for gene: SLIT2 were set to CAKUT; vesicoureteric reflux Review for gene: SLIT2 was set to AMBER Added comment: PMID 26026792 Hwang et al 2019 - identified three unrelated individuals with CAKUT and different heterozygous SLIT2 missense mutations. - 1 patient presented with multiple bilateral subcortical renal cysts - 1 patient presented with multicystic dysplastic kidneys - 1 patient had right renal agenesis Authors provide supportive variant-specific mouse models. PMID: 34059960 Liu et al 2021 - 3 unrelated children from a Chinese Kidney Disease Database with vesicoureteric reflux had SLIT3 VUS identified PMID 19350278 Zu et al 2009 - x2 unrelated individuals with SLIT2 variants - not segregating with disease in either family Sources: Literature |
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| Fetal anomalies v0.901 | SLIT3 | Zornitza Stark Marked gene: SLIT3 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.901 | SLIT3 | Zornitza Stark Gene: slit3 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.901 | SLIT3 | Zornitza Stark Classified gene: SLIT3 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.901 | SLIT3 | Zornitza Stark Gene: slit3 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.886 | SLIT3 |
Krithika Murali gene: SLIT3 was added gene: SLIT3 was added to Fetal anomalies. Sources: Expert list,Literature Mode of inheritance for gene: SLIT3 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: SLIT3 were set to 33933663 Phenotypes for gene: SLIT3 were set to Congenital diaphragmatic hernia Review for gene: SLIT3 was set to AMBER Added comment: Two affected individuals, single family, supportive mouse model. Sources: Expert list, Literature |
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