Inherited bleeding disorders

Gene: AP3D1

Red List (low evidence)

Source: BRIDGE Study Tier 1 Gene and Expert Review Green gene

Created: 9 Aug 2017, 1:49 p.m.

Comment on publications: added recent publication

Created: 9 Aug 2017, 1:05 p.m.

Comment on phenotypes: added phenotype based on expert review

Created: 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 project

Created: 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

• 26744459

Green List (high evidence)

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

• 26744459

Variants in this GENE are reported as part of current diagnostic practice