AP3D1

adaptor related protein complex 3 delta 1 subunit
OMIM: 607246, Gene2Phenotype

6 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 6 panels
Green AP3D1 in COVID-19 research Level 2: Viral research Version 1.146	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green IUIS Classification December 2019 IUIS Classification February 2018 Literature IUIS Classification December 2019 IUIS Classification February 2018 Literature 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
Green AP3D1 in Inherited bleeding disorders Level 3: Haemostasis disorders Level 2: Haematological and immunological disorders Version 1.182	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes ?Hermansky-Pudlak syndrome 10 Platelet disorder Hermansky-Pudlak syndrome and MR
Amber AP3D1 in Albinism or congenital nystagmus Level 2: Ophthalmology Version 4.2 Latest signed off version: v4.0 (30 Apr 2025)	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber NHS GMS Phenotypes ?Hermansky-Pudlak syndrome 10 617050 AR
Amber AP3D1 in Primary immunodeficiency or monogenic inflammatory bowel disease Level 2: Immunology Version 8.78 Latest signed off version: v8.0 (30 Apr 2025)	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Other IUIS Classification December 2019 IUIS Classification February 2018 Literature Phenotypes Oculocutaneous albinism, recurrent infections, seizures, hearing loss and neurodevelopmental delay Diseases of Immune Dysregulation Hermansky-Pudlak syndrome with neutropenia Oculocutaneous albinism, severe neutropenia, recurrent infections, seizures, hearing loss and neurodevelopmental delay albinism HSP10 seizures neutropenia Immunodeficient HPS neuordevelopmental delay Hermansky-Pudlak syndrome ?Hermansky-Pudlak syndrome 10, 617050
Green AP3D1 in Bleeding and platelet disorders Level 2: Haematology Version 4.6 Latest signed off version: v4.0 (30 Apr 2025)	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green North West GLH Yorkshire and North East GLH London South GLH NHS GMS Wessex and West Midlands GLH Phenotypes 617050 ?Hermansky-Pudlak syndrome 10
Red AP3D1 in Monogenic hearing loss Level 2: Audiology Version 5.57 Latest signed off version: v5.0 (30 Apr 2025) Component of the following Super Panels: Paediatric disorders	review	Not set	Sources Expert