| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Bleeding and platelet disorders v3.2 | APOLD1 | Arina Puzriakova commented on gene: APOLD1 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Bleeding and platelet disorders v3.2 | APOLD1 | Carl Fratter reviewed gene: APOLD1: Rating: AMBER; Mode of pathogenicity: None; Publications: PIMD: 35638551; Phenotypes: Bleeding disorder; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Bleeding and platelet disorders v1.43 | APOLD1 |
Sarah Leigh gene: APOLD1 was added gene: APOLD1 was added to Bleeding and platelet disorders. Sources: Literature Mode of inheritance for gene: APOLD1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: APOLD1 were set to 35638551 Phenotypes for gene: APOLD1 were set to inherited bleeding disorder Review for gene: APOLD1 was set to RED Added comment: Not associated with a phenotype in OMIM, Gen2Phen or MONDO. One heterozygous variant (NM_001130415; c.145_146delinsTA; p.R49*) has been reported to segregate with inherited bleeding in three sisters. Sources: Literature |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||