AP3B1

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

12 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 12 panels
Green AP3B1 in Ocular and Oculocutaneous Albinism Level 2: Ophthalmological disorders Version 1.11	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Hermansky-Pudlak syndrome 2, MIM# 608233 MONDO:0011997 Tags treatable clinical trial
Green AP3B1 in Bleeding and Platelet Disorders Level 2: Haematological disorders Version 1.43	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Hermansky-Pudlak syndrome 2, MIM# 608233 MONDO:0011997 Tags treatable clinical trial
Green AP3B1 in Interstitial Lung Disease Level 2: Respiratory disorders Version 1.0	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes MIM# 603401 Hermansky–Pudlak syndrome (HPS2) Childhood pulmonary fibrosis Tags treatable clinical trial
Green AP3B1 in Mendeliome Version 1.1902	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Hermansky-Pudlak syndrome 2, MIM# 608233 MONDO:0011997 Tags treatable clinical trial
Green AP3B1 in Pulmonary Fibrosis_Interstitial Lung Disease Level 2: Respiratory disorders Version 0.57	review	Unknown	Sources Expert Review Green Victorian Clinical Genetics Services Expert Review Green Victorian Clinical Genetics Services Tags treatable clinical trial
Green AP3B1 in Disorders of immune dysregulation Level 2: Immunological disorders Version 0.186 Component of the following Super Panels: Immunological disorders_SuperPanel	review	Unknown	Sources Melbourne Genomics Health Alliance Immunology Flagship Victorian Clinical Genetics Services Expert Review Green Tags treatable clinical trial
Green AP3B1 in Intellectual disability syndromic and non-syndromic Level 2: Neurology and neurodevelopmental disorders Version 0.6063	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genetic Health Queensland Phenotypes Hermansky-Pudlak syndrome 2, MIM# 608233 MONDO:0011997 Tags treatable clinical trial
Green AP3B1 in Additional findings_Paediatric Level 2: Screening Version 0.278	review	BIALLELIC, autosomal or pseudoautosomal	Sources BabySeq Category A gene Expert Review Green Phenotypes Hermansky-Pudlak syndrome 2
Green AP3B1 in Congenital nystagmus Level 2: Ophthalmological disorders Version 1.21	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genomics England PanelApp NHS Genomic Medicine Service Victorian Clinical Genetics Services Phenotypes Hermansky-Pudlak syndrome 2, MIM# 608233 MONDO:0011997 Tags treatable clinical trial
Red AP3B1 in Fetal anomalies Version 1.255	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Genomics England PanelApp Phenotypes Hermansky-Pudlak syndrome 2, MIM# 608233 MONDO:0011997
Green AP3B1 in BabyScreen+ newborn screening Level 2: Screening Version 1.114	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green BabySeq Category A gene Phenotypes Hermansky-Pudlak syndrome 2, MIM# 608233 MONDO:0011997 Tags treatable clinical trial haematological
Green AP3B1 in Transplant Co-Morbidity Superpanel Level 2: Screening Version 0.18	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Hermansky-Pudlak syndrome 2, MIM# 608233 MONDO:0011997