Inherited bleeding disorders

Gene: AP3D1

Green List (high evidence)

AP3D1 (adaptor related protein complex 3 delta 1 subunit)
EnsemblGeneIds (GRCh38): ENSG00000065000
EnsemblGeneIds (GRCh37): ENSG00000065000
OMIM: 607246, Gene2Phenotype
AP3D1 is in 5 panels

2 reviews

Louise Daugherty (Genomics England Curator)

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

BRIDGE consortium (NIHRBR-RD)

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

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

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • ?Hermansky-Pudlak syndrome 10
  • Platelet disorder
  • Hermansky-Pudlak syndrome and MR
OMIM
607246
Clinvar variants
Variants in AP3D1
Penetrance
Complete
Publications
Panels with this gene

History Filter Activity

9 Aug 2017, Gel status: 4

Set publications

Louise Daugherty (Genomics England Curator)

Publications for AP3D1 were set to 26744459;27900855

9 Aug 2017, Gel status: 4

Set Phenotypes

Louise Daugherty (Genomics England Curator)

Phenotypes for AP3D1 were set to ?Hermansky-Pudlak syndrome 10; Platelet disorder; Hermansky-Pudlak syndrome and MR

9 Aug 2017, Gel status: 4

Gene classified by Genomics England curator

Louise Daugherty (Genomics England Curator)

This gene has been classified as Green List (High Evidence).

23 Feb 2017, Gel status: 0

Added New Source

Louise Daugherty (Genomics England Curator)

AP3D1 was added to Inherited bleeding disorderspanel. Sources: Literature

23 Feb 2017, Gel status: 0

Created

Louise Daugherty (Genomics England Curator)

AP3D1 was created by LouiseD