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Fetal anomalies v0.1952 | KCNT1 | Zornitza Stark Marked gene: KCNT1 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.1952 | KCNT1 | Zornitza Stark Gene: kcnt1 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.1952 | KCNT1 | Zornitza Stark Phenotypes for gene: KCNT1 were changed from SEVERE AUTOSOMAL DOMINANT NOCTURNAL FRONTAL LOBE EPILEPSY; MALIGNANT MIGRATING PARTIAL SEIZURES OF INFANCY to Epilepsy, nocturnal frontal lobe, 5 (MIM#615005); Epileptic encephalopathy, early infantile, 14 (MIM#614959) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.1951 | KCNT1 | Zornitza Stark Publications for gene: KCNT1 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.1950 | KCNT1 | Zornitza Stark Mode of inheritance for gene: KCNT1 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.1933 | KCNT1 | Daniel Flanagan reviewed gene: KCNT1: Rating: RED; Mode of pathogenicity: None; Publications: 23086397, 23086396, 31872048, 31532509; Phenotypes: Epilepsy, nocturnal frontal lobe, 5 (MIM#615005), Epileptic encephalopathy, early infantile, 14 (MIM#614959); Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.0 | KCNT1 |
Zornitza Stark gene: KCNT1 was added gene: KCNT1 was added to Fetal anomalies. Sources: Expert Review Red,Genomics England PanelApp Mode of inheritance for gene: KCNT1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: KCNT1 were set to SEVERE AUTOSOMAL DOMINANT NOCTURNAL FRONTAL LOBE EPILEPSY; MALIGNANT MIGRATING PARTIAL SEIZURES OF INFANCY |