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Fetal anomalies v0.1464 | AIPL1 | Zornitza Stark Marked gene: AIPL1 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.1464 | AIPL1 | Zornitza Stark Gene: aipl1 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.1464 | AIPL1 | Zornitza Stark Phenotypes for gene: AIPL1 were changed from LEBER CONGENITAL AMAUROSIS 4 to Leber congenital amaurosis 4, 604393; Cone-rod dystrophy, 604393; Retinitis pigmentosa, juvenile, 604393 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.1463 | AIPL1 | Zornitza Stark Publications for gene: AIPL1 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.1462 | AIPL1 | Zornitza Stark Mode of inheritance for gene: AIPL1 was changed from BIALLELIC, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.1461 | AIPL1 | Zornitza Stark reviewed gene: AIPL1: Rating: RED; Mode of pathogenicity: None; Publications: 10615133; Phenotypes: Leber congenital amaurosis 4, 604393, Cone-rod dystrophy, 604393, Retinitis pigmentosa, juvenile, 604393; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.0 | AIPL1 |
Zornitza Stark gene: AIPL1 was added gene: AIPL1 was added to Fetal anomalies. Sources: Expert Review Red,Genomics England PanelApp Mode of inheritance for gene: AIPL1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: AIPL1 were set to LEBER CONGENITAL AMAUROSIS 4 |