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Fetal anomalies v0.4553 | POLR1C | Zornitza Stark Marked gene: POLR1C as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.4553 | POLR1C | Zornitza Stark Gene: polr1c has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.4553 | POLR1C | Zornitza Stark Phenotypes for gene: POLR1C were changed from TREACHER COLLINS SYNDROME TYPE 3 to Treacher Collins syndrome 3, MIM# 248390 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.4552 | POLR1C | Zornitza Stark Publications for gene: POLR1C were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.4551 | POLR1C |
Zornitza Stark changed review comment from: 8 unrelated individuals reported, ID is part of the phenotype. Sources: Expert list; to: Treacher Collins more likely to be detected antenatally. Sources: Expert list |
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Fetal anomalies v0.4551 | POLR1C | Zornitza Stark edited their review of gene: POLR1C: Changed phenotypes: Leukodystrophy, hypomyelinating, 11, MIM# 616494, Treacher Collins syndrome 3, MIM# 248390 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.0 | POLR1C |
Zornitza Stark gene: POLR1C was added gene: POLR1C was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp Mode of inheritance for gene: POLR1C was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: POLR1C were set to TREACHER COLLINS SYNDROME TYPE 3 |