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| Fetal anomalies v0.558 | COG4 | Zornitza Stark Marked gene: COG4 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.558 | COG4 | Zornitza Stark Gene: cog4 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.558 | COG4 | Zornitza Stark Phenotypes for gene: COG4 were changed from COG4-CDG; Saul-Wilson syndrome, 618150 to Congenital disorder of glycosylation, type IIj 613489; Saul-Wilson syndrome, MIM #618150 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.557 | COG4 | Zornitza Stark Publications for gene: COG4 were set to 30290151 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.556 | COG4 | Zornitza Stark Mode of inheritance for gene: COG4 was changed from BIALLELIC, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.555 | COG4 | Zornitza Stark edited their review of gene: COG4: Changed phenotypes: Congenital disorder of glycosylation, type IIj 613489, Saul-Wilson syndrome, OMIM #618150; Changed mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.555 | COG4 |
Zornitza Stark changed review comment from: Bi-allelic variants in this gene are associated with CDG. Microcephaly in some.; to: Bi-allelic variants in this gene are associated with CDG. Microcephaly in some. Saul-Wilson syndrome is associated with mono-allelic variants: skeletal dysplasia, including prenatal findings. |
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| Fetal anomalies v0.555 | COG4 | Zornitza Stark changed review comment from: Bi-allelic variants in this gene are associated with CDG.; to: Bi-allelic variants in this gene are associated with CDG. Microcephaly in some. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.0 | COG4 |
Zornitza Stark gene: COG4 was added gene: COG4 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp Mode of inheritance for gene: COG4 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: COG4 were set to 30290151 Phenotypes for gene: COG4 were set to COG4-CDG; Saul-Wilson syndrome, 618150 |
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