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| Fetal anomalies v1.219 | GDF2 | Arina Puzriakova Classified gene: GDF2 as Red List (low evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v1.219 | GDF2 |
Arina Puzriakova Added comment: Comment on list classification: New gene added by Zornitza Stark. Single family with 2 sibs affected by lymphatic dysplasia, hydrothorax and nonimmune hydrops fetalis. Homozygous truncating variant in GDF2 was detected which segregated with the disorder (PMID:32618121). Rating Red as additional cases/functional evidence required to corroborate this gene-disease association. |
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| Fetal anomalies v1.219 | GDF2 | Arina Puzriakova Gene: gdf2 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v1.95 | GDF2 |
Zornitza Stark gene: GDF2 was added gene: GDF2 was added to Fetal anomalies. Sources: Literature Mode of inheritance for gene: GDF2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: GDF2 were set to 32618121 Phenotypes for gene: GDF2 were set to Lymphatic dysplasia; hydrothorax; hydrops Review for gene: GDF2 was set to RED Added comment: Single family reported, two affected individuals. New MOI. Monoallelic variants in this gene are associated with HHT/PAH. Sources: Literature |
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