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| Fetal anomalies v0.3759 | RTEL1 | Zornitza Stark Marked gene: RTEL1 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.3759 | RTEL1 | Zornitza Stark Gene: rtel1 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.3759 | RTEL1 | Zornitza Stark Phenotypes for gene: RTEL1 were changed from DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 5; DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT 4 to Dyskeratosis congenita, autosomal recessive 5 MIM#615190; Hoyeraal-Hreidarsson syndrome | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.3758 | RTEL1 | Zornitza Stark Publications for gene: RTEL1 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.3721 | RTEL1 | Ain Roesley reviewed gene: RTEL1: Rating: GREEN; Mode of pathogenicity: None; Publications: 23329068, 20301779, 29296694; Phenotypes: Dyskeratosis congenita, autosomal recessive 5 MIM#615190; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.0 | RTEL1 |
Zornitza Stark gene: RTEL1 was added gene: RTEL1 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp Mode of inheritance for gene: RTEL1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: RTEL1 were set to DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 5; DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT 4 |
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