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Fetal anomalies v0.1844 KBTBD13 Zornitza Stark Marked gene: KBTBD13 as ready
Fetal anomalies v0.1844 KBTBD13 Zornitza Stark Gene: kbtbd13 has been classified as Red List (Low Evidence).
Fetal anomalies v0.1844 KBTBD13 Zornitza Stark Phenotypes for gene: KBTBD13 were changed from NEMALINE MYOPATHY 6 to Nemaline myopathy 6, autosomal dominant (MIM#609273)
Fetal anomalies v0.1843 KBTBD13 Zornitza Stark Publications for gene: KBTBD13 were set to
Fetal anomalies v0.1842 KBTBD13 Zornitza Stark Mode of inheritance for gene: KBTBD13 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v0.1823 KBTBD13 Daniel Flanagan reviewed gene: KBTBD13: Rating: RED; Mode of pathogenicity: None; Publications: 11731279, 21104864; Phenotypes: Nemaline myopathy 6, autosomal dominant (MIM#609273); Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v0.0 KBTBD13 Zornitza Stark gene: KBTBD13 was added
gene: KBTBD13 was added to Fetal anomalies. Sources: Expert Review Red,Genomics England PanelApp
Mode of inheritance for gene: KBTBD13 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: KBTBD13 were set to NEMALINE MYOPATHY 6