AP3B1

adaptor related protein complex 3 beta 1 subunit
OMIM: 603401, Gene2Phenotype

13 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 13 panels
Green AP3B1 in COVID-19 research Level 2: Viral research Version 1.146	review	BIALLELIC, autosomal or pseudoautosomal	Sources IUIS Classification February 2018 London North GLH NHS GMS GRID V2.0 Victorian Clinical Genetics Services North West GLH ESID Registry 20171117 Expert Review Green NHS GMS North West GLH London North GLH IUIS Classification February 2018 Victorian Clinical Genetics Services Expert Review Green ESID Registry 20171117 GRID V2.0 Phenotypes Partial albinism, recurrent infections, pulmonary fibrosis, increased bleeding, neutropenia, HLH Immunodeficient HPS Hermansky-Pudlak syndrome 2 Diseases of Immune Dysregulation Hermansky-Pudlak syndrome with neutropenia Hermansky-Pudlak syndrome, 608233 HPS2
Green AP3B1 in Familial pulmonary fibrosis Level 3: Interstitial lung disorders Level 2: Respiratory disorders Version 1.32	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Emory Genetics Laboratory Phenotypes Pulmonary Fibrosis and Hermansky-Pudlak Syndrome Hermansky-Pudlak syndrome 2, 608233 Pulmonary Disease Pulmonary fibrosis
Green AP3B1 in Vici Syndrome and other autophagy disorders Level 3: Autophagy disorders Level 2: Dysmorphic and congenital abnormality syndromes Version 1.3	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Hermansky-Pudlak syndrome 2 Tags founder-effect
Green AP3B1 in Pigmentary skin disorders Level 2: Dermatology Version 4.13 Latest signed off version: v4.0 (30 Apr 2025)	review	BIALLELIC, autosomal or pseudoautosomal	Sources London North GLH NHS GMS Expert Review Green Phenotypes HERMANSKY-PUDLAK SYNDROME 2 Hermansky-Pudlak syndrome HPS2
Green AP3B1 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 BRIDGE Study Tier 1 Gene Phenotypes Hermansky-Pudlak syndrome
Green AP3B1 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 Green Expert list Phenotypes Hermansky-Pudlak syndrome 2 608233 AR
Green AP3B1 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 Green Other NHS GMS North West GLH London North GLH IUIS Classification February 2018 Victorian Clinical Genetics Services ESID Registry 20171117 GRID V2.0 Phenotypes Hermansky-Pudlak syndrome 2 HPS2 Hermansky-Pudlak syndrome, 608233 Immunodeficient HPS Hermansky-Pudlak syndrome with neutropenia Partial albinism, recurrent infections, pulmonary fibrosis, increased bleeding, neutropenia, HLH Diseases of Immune Dysregulation
Red AP3B1 in Vascular skin disorders Level 2: Dermatology Version 2.5 Latest signed off version: v2.0 (30 Apr 2025)	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Phenotypes Hermansky-Pudlak syndrome 2
Green AP3B1 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 North West GLH Yorkshire and North East GLH London South GLH NHS GMS Expert Review Green Wessex and West Midlands GLH Phenotypes 608233 Hermansky-Pudlak syndrome 2
Amber AP3B1 in Cytopenia - NOT Fanconi anaemia Level 2: Haematology Version 4.32 Latest signed off version: v4.0 (30 Apr 2025)	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Expert review Amber NHS GMS North West GLH London South GLH Yorkshire and North East GLH Wessex and West Midlands GLH Phenotypes Hermansky-Pudlak syndrome 2, 608233
Red AP3B1 in Fetal anomalies Level 2: Fetal (including NIPD) Version 6.140 Latest signed off version: v6.0 (30 Apr 2025)	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red PAGE Additional Gene List Phenotypes Hermansky-Pudlak syndrome 2 608233
Green AP3B1 in Intellectual disability Level 2: Developmental disorders Version 9.285 Latest signed off version: v9.0 (30 Apr 2025) Component of the following Super Panels: Childhood onset leukodystrophy Hypotonic infant Paediatric disorders	review	BIALLELIC, autosomal or pseudoautosomal	Sources Victorian Clinical Genetics Services Expert Review Green Expert Review Green Radboud University Medical Center, Nijmegen Phenotypes Hermansky-Pudlak syndrome 2 608233
Green AP3B1 in Pulmonary fibrosis familial Level 2: Respiratory Version 1.8 Latest signed off version: v1.3 (30 Nov 2022)	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Hermansky-Pudlak syndrome 2, OMIM:608233