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Severe Paediatric 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 7 panels

2 reviews

Zornitza Stark (Australian Genomics)

Red List (low evidence)

Single family and a mouse model.
Created: 5 Apr 2020, 3:32 a.m. | Last Modified: 5 Apr 2020, 3:32 a.m.
Panel Version: 1.1

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Hermansky-Pudlak syndrome 10, MIM# 617050; Oculocutaneous albinism; Severe neutropaenia; Recurrent infections; Seizures; Hearing loss; Neurodevelopmental delay

Publications

Louise Daugherty (Genomics England Curator)

I don't know

Initial gene list (NGC_genelist-20190823_GREEN_dis_moi_forCuration_20200211.xlsx) collated by Dr Courtney French (University of Cambridge University Hospital NHS Foundation), Dr Karyn Megy (Clinical Feedback Lead, NIHR BioResource - Rare Diseases Study, University of Cambridge University Hospital NHS Foundation), Dr Alba Sanchis-Juan (NIHR BioResource - Rare Diseases Study, University of Cambridge University Hospital NHS Foundation) and Lucy Raymond (Professor of Medical Genetics and Neurodevelopment, University of Cambridge University Hospital NHS Foundation). Submitted to the PanelApp resource January 2020 on behalf of the Next Generation Children Project, Addenbrookes' Hospital, Cambridge. Gene Symbol submitted: AP3D1; Recommended initial gene rating: Green List (high evidence); Phenotypes: ?Hermansky-Pudlak syndrome 10, 617050 (3); Mode of inheritance: Autosomal recessive
Created: 20 Feb 2020, 5:15 p.m. | Last Modified: 20 Feb 2020, 5:15 p.m.
Panel Version: 0.12

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Next Generation Children Project
  • Expert Review Green
  • Expert list
Phenotypes
  • ?Hermansky-Pudlak syndrome 10, 617050
OMIM
607246
Clinvar variants
Variants in AP3D1
Penetrance
None
Publications
Panels with this ge