AP3B1

adaptor related protein complex 3 beta 1 subunit
OMIM: 603401
PanelMode of inheritanceDetails
5 panels
R-numbers: R39
Signed-off version 1.2
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Hermansky-Pudlak syndrome 2 608233 AR
R-numbers: R90
Signed-off version 1.2
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
608233 Hermansky-Pudlak syndrome 2
Component of the following Super Panels:
  • - Hypotonic infant
  • - Paediatric disorders
  • - White matter disorders - childhood onset
R-numbers: R29
Signed-off version 3.2
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Hermansky-Pudlak syndrome 2 608233
R-numbers: R236
Signed-off version 1.4
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
HERMANSKY-PUDLAK SYNDROME 2, Hermansky-Pudlak syndrome, HPS2
R-numbers: R15
Signed-off version 2.1
BIALLELIC, autosomal or pseudoautosomal
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