Inherited bleeding disorders
Gene: AP3D1
Source: BRIDGE Study Tier 1 Gene and Expert Review Green geneCreated: 9 Aug 2017, 1:49 p.m.
Comment on publications: added recent publicationCreated: 9 Aug 2017, 1:05 p.m.
Comment on phenotypes: added phenotype based on expert reviewCreated: 9 Aug 2017, 1 p.m.
Comment on list classification: Changed rating from Red to Green based on expert list/supporting information from the NIHRBR-RD BRIDGE projectCreated: 9 Aug 2017, 1 p.m.
Currently only one family reported for this disorder (PMID:26744459)Created: 23 Feb 2017, 11:05 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
?Hermansky-Pudlak syndrome 10
Publications
Current level of evidence and expert review, High level of confidence as disease-causing gene. Proven in 3 unrelated pedigrees via cosegregation analysis or less than 3 or 1 large pedigree supported with functional studies (animal model). Ready for clinical reporting. Previous comments from expert reviewer, very rare plus only 1 family up to date though a known interactor with a known HPS gene (Hermansky-Pudlak syndrome) HPS gene number 10 published cases 26744459 plus Observed in the NIHRBR-RD BRIDGE cohort.Created: 9 Aug 2017, 12:31 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Platelet disorder; Hermansky-Pudlak syndrome and MR
Publications
Variants in this GENE are reported as part of current diagnostic practice
Publications for AP3D1 were set to 26744459;27900855
Phenotypes for AP3D1 were set to ?Hermansky-Pudlak syndrome 10; Platelet disorder; Hermansky-Pudlak syndrome and MR
This gene has been classified as Green List (High Evidence).
AP3D1 was added to Inherited bleeding disorderspanel. Sources: Literature
AP3D1 was created by LouiseD