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Fetal anomalies v0.118 | KMT5B | Zornitza Stark Marked gene: KMT5B as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.118 | KMT5B | Zornitza Stark Gene: kmt5b has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.118 | KMT5B | Zornitza Stark Phenotypes for gene: KMT5B were changed from KMT5B syndrome to Mental retardation, autosomal dominant 51, MIM#617788 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.117 | KMT5B | Zornitza Stark Publications for gene: KMT5B were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.116 | KMT5B | Zornitza Stark Mode of inheritance for gene: KMT5B was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.115 | KMT5B |
Zornitza Stark changed review comment from: Multiple affected individuals from unrelated families. Sources: Expert list; to: Multiple affected individuals from unrelated families. Predominantly presents with ID/autism, multiple congenital anomalies are not typically present. Sources: Expert list |
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Fetal anomalies v0.115 | KMT5B | Zornitza Stark edited their review of gene: KMT5B: Changed rating: RED | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.0 | KMT5B |
Zornitza Stark gene: KMT5B was added gene: KMT5B was added to Fetal anomalies. Sources: Expert Review Red,Genomics England PanelApp Mode of inheritance for gene: KMT5B was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: KMT5B were set to KMT5B syndrome |