Bleeding and platelet disorders
Gene: APOLD1Maintaining Red rating for now awaiting further cases to corroborate this gene-disease association, as only a single family as been reported to date (PIMD: 35638551)Created: 17 May 2023, 12:49 p.m. | Last Modified: 17 May 2023, 12:49 p.m.
Panel Version: 3.2
Suggest amber or red status currently.
Only one publication to date reporting one family where heterozygous loss of function variant co-segregates with bleeding disorder across three generations. The study includes supportive functional evidence. However, caution still required as supportive evidence is needed from additional families/reports and it is noted that there are loss of function variants in gnomAD.Created: 12 May 2023, 3:28 p.m. | Last Modified: 12 May 2023, 3:28 p.m.
Panel Version: 3.2
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
Bleeding disorder
Publications
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: LiteratureCreated: 15 Jul 2022, 2:26 p.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
inherited bleeding disorder
Publications
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