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Fetal anomalies v0.2041 | KMT2C | Zornitza Stark Marked gene: KMT2C as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.2041 | KMT2C | Zornitza Stark Gene: kmt2c has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.2041 | KMT2C | Zornitza Stark Phenotypes for gene: KMT2C were changed from INTELLECTUAL DISABILITY; Kleefstra syndrome 2 617768 to Kleefstra syndrome 2, MIM#617768 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.2040 | KMT2C | Zornitza Stark Mode of inheritance for gene: KMT2C was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.2039 | KMT2C |
Zornitza Stark changed review comment from: Mostly PTCs, 2 missense reported in ClinVar but in silicos evidence only; to: Mostly PTCs, 2 missense reported in ClinVar but in silicos evidence only. Multiple congenital anomalies syndrome. |
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Fetal anomalies v0.0 | KMT2C |
Zornitza Stark gene: KMT2C was added gene: KMT2C was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp Mode of inheritance for gene: KMT2C was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: KMT2C were set to 29276005; 22726846 Phenotypes for gene: KMT2C were set to INTELLECTUAL DISABILITY; Kleefstra syndrome 2 617768 |