COVID-19 research

Gene: AP3D1

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

• 26744459

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

• 26744459