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COVID-19 research

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

Sophie Hambleton (Newcastle University)

Red List (low evidence)

Very likely to be disease-associated but only one patient described to date
Created: 11 Jun 2018, 4:47 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Hermansky-Pudlak syndrome; albinism; neutropenia; neuordevelopmental delay; seizures

Publications

Louise Daugherty (Genomics England Curator)

Red List (low evidence)

OriginaI Metadata from IUIS classification table (February, 2018) downloaded 20180614. IUIS Genetic defect (original gene symbol in IUIS download): AP3D1 .PanelApp HGNC gene symbol check: AP3D1 . IUIS Disease: Hermansky-Pudlak syndrome, type 10 . IUIS Inheritance: AR .T cells: N/A, .B cells: Normal, .IUIS Other affected cells: N/A. IUIS Associated features: Oculocutaneous albinism, severe neutropenia, recurrent infections, seizures, hearing loss and neurodevelopmental delay. IUIS Major category: Diseases of Immune Dysregulation. IUIS Subcategory: FHL Syndromes with Hypopigmentation
Created: 2 Jul 2018, 10:35 a.m.
External expert review notes Red status as there is currently only one reported case, so I have kept this gene Red on this panel
Created: 12 Jun 2018, 3:31 p.m.
Comment on phenotypes: Added phenotypes suggested from external expert review.
Created: 12 Jun 2018, 10:23 a.m.
Neutropenia and/or immune defects have been associated with AP3 deficient HPS, including individuals with pathogenic variants in AP3B1 (and AP3D1) PMID:16507770,28585318,26744459. Not enough evidence to date to update rating from Red, currently only one reported case of HSP10 in a boy, born of consanguineous Turkish parents (PMID: 26744459)
Created: 11 May 2018, 10:56 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
?Hermansky-Pudlak syndrome 10, 617050; HSP10; Immunodeficient HPS; Hermansky-Pudlak syndrome with neutropenia

Publications

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
Phenotypes
  • neutropenia
  • Immunodeficient HPS
  • seizures
  • Diseases of Immune Dysregulation
  • Hermansky-Pudlak syndrome with neutropenia
  • neuordevelopmental delay
  • albinism
  • ?Hermansky-Pudlak syndrome 10, 617050
  • Hermansky-Pudlak syndrome
  • Oculocutaneous albinism, recurrent infections, seizures, hearing loss and neurodevelopmental delay
  • Oculocutaneous albinism, severe neutropenia, recurrent infections, seizures, hearing loss and neurodevelopmental delay
  • HSP10
OMIM
607246
Clinvar variants
Variants in AP3D1
Penetrance
None
Publications
Panels with this gene

History Filter Activity

2 Apr 2020, Gel status: 3

Added New Source, Set Phenotypes, Status Update

Ellen McDonagh (Genomics England Curator)

Source Expert Review Green was added to AP3D1. Added phenotypes neutropenia; Immunodeficient HPS; seizures; Diseases of Immune Dysregulation; Hermansky-Pudlak syndrome with neutropenia; neuordevelopmental delay; albinism; ?Hermansky-Pudlak syndrome 10, 617050; Hermansky-Pudlak syndrome; Oculocutaneous albinism, recurrent infections, seizures, hearing loss and neurodevelopmental delay; Oculocutaneous albinism, severe neutropenia, recurrent infections, seizures, hearing loss and neurodevelopmental delay; HSP10 for gene: AP3D1 Rating Changed from Red List (low evidence) to Green List (high evidence)

1 Apr 2020, Gel status: 1

Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes

Ellen McDonagh (Genomics England Curator)

gene: AP3D1 was added gene: AP3D1 was added to Viral susceptibility. Sources: Expert Review Red,Literature,IUIS Classification February 2018,IUIS Classification December 2019 Mode of inheritance for gene: AP3D1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: AP3D1 were set to 26744459; 32086639; 32048120 Phenotypes for gene: AP3D1 were set to neutropenia; Immunodeficient HPS; seizures; Diseases of Immune Dysregulation; Hermansky-Pudlak syndrome with neutropenia; neuordevelopmental delay; albinism; ?Hermansky-Pudlak syndrome 10, 617050; Hermansky-Pudlak syndrome; Oculocutaneous albinism, recurrent infections, seizures, hearing loss and neurodevelopmental delay; Oculocutaneous albinism, severe neutropenia, recurrent infections, seizures, hearing loss and neurodevelopmental delay; HSP10