Activity
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| Fetal anomalies v0.1072 | DOK7 | Zornitza Stark Marked gene: DOK7 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.1072 | DOK7 | Zornitza Stark Gene: dok7 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.1072 | DOK7 | Zornitza Stark Phenotypes for gene: DOK7 were changed from Myasthenic syndrome, congenital, 10, 254300; ?Fetal akinesia deformation sequence 3, 618389 to Myasthenic syndrome, congenital, 10, MIM# 254300; Fetal akinesia deformation sequence 3, MIM# 618389 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.1071 | DOK7 | Zornitza Stark Publications for gene: DOK7 were set to 30266093 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.1070 | DOK7 | Zornitza Stark Deleted their comment | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.1070 | DOK7 |
Zornitza Stark edited their review of gene: DOK7: Added comment: Association with congenital myasthenia: Over 30 unrelated families reported with bi-allelic variants. Note recent report of mild adult-onset disease and heterozygous variant PMID 32360404. Association with FADS: Two families reported with this phenotype, severe end of the spectrum for DOK7-related disorders.; Changed rating: GREEN; Changed publications: 16917026, 18626973, 20147321, 16794080, 31453852, 29395672, 32360404, 19261599, 31880392; Changed phenotypes: Myasthenic syndrome, congenital, 10, MIM# 254300, Fetal akinesia deformation sequence 3, MIM# 618389 |
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| Fetal anomalies v0.0 | DOK7 |
Zornitza Stark gene: DOK7 was added gene: DOK7 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp Mode of inheritance for gene: DOK7 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: DOK7 were set to 30266093 Phenotypes for gene: DOK7 were set to Myasthenic syndrome, congenital, 10, 254300; ?Fetal akinesia deformation sequence 3, 618389 |
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