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| Fetal anomalies v5.36 | GDF2 | Achchuthan Shanmugasundram Phenotypes for gene: GDF2 were changed from hydrops; Lymphatic dysplasia; Telangiectasia, hereditary hemorrhagic, type 5, OMIM:615506; hydrothorax to Telangiectasia, hereditary hemorrhagic, type 5, OMIM:615506 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v5.16 | GDF2 | Achchuthan Shanmugasundram commented on gene: GDF2 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v5.15 | GDF2 | Natalie Bibb reviewed gene: GDF2: Rating: AMBER; Mode of pathogenicity: ; Publications: 32618121; Phenotypes: Telangiectasia, hereditary hemorrhagic, type 5, MIM#615506; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v5.13 | GDF2 |
Achchuthan Shanmugasundram Source NHS GMS was added to GDF2. Source Expert Review Amber was added to GDF2. Mode of inheritance for gene GDF2 was changed from BIALLELIC, autosomal or pseudoautosomal to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Added phenotypes Telangiectasia, hereditary hemorrhagic, type 5, OMIM:615506 for gene: GDF2 Rating Changed from Red List (low evidence) to Amber List (moderate evidence) |
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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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