| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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| Fetal hydrops v1.21 | ATP1A2 | Rebecca Foulger Classified gene: ATP1A2 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal hydrops v1.21 | ATP1A2 | Rebecca Foulger Added comment: Comment on list classification: Added to panel by Zornitza Stark. Not yet associated with a disorder in Gene2Phenotype. 2 families with Fetal hydrops reported in PMID:30690204 (3 individuals). Therefore phenotype is relevant to panel, and rated Amber awaiting further cases. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal hydrops v1.21 | ATP1A2 | Rebecca Foulger Gene: atp1a2 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal hydrops v1.20 | ATP1A2 | Rebecca Foulger commented on gene: ATP1A2 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal hydrops v1.16 | ATP1A2 |
Zornitza Stark gene: ATP1A2 was added gene: ATP1A2 was added to Fetal hydrops. Sources: Expert list Mode of inheritance for gene: ATP1A2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: ATP1A2 were set to 30690204 Phenotypes for gene: ATP1A2 were set to hydrops fetalis; microcephaly; arthrogryposis; extensive cortical malformations gene: ATP1A2 was marked as current diagnostic Added comment: Three individuals from two unrelated families reported with bi-allelic LoF variants in this gene and hydrops/congenital abnormalities. Mouse model is perinatal lethal. Please note this is a distinct phenotype from the mono-allelic variants associated with alternating hemiplegia. Sources: Expert list |
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