Genomics England

adaptor related protein complex 3 beta 1 subunit

Panel	Mode of inheritance	Details
Filter panels6 panels
Green in Albinism or congenital nystagmus R-numbers: R39 Signed-off version 3.0	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Hermansky-Pudlak syndrome 2 608233 AR
Green in Bleeding and platelet disorders R-numbers: R90 Signed-off version 3.0	BIALLELIC, autosomal or pseudoautosomal	Phenotypes 608233 Hermansky-Pudlak syndrome 2
Green in Intellectual disability - microarray and sequencing Component of the following Super Panels: - Childhood onset leukodystrophy - Hypotonic infant - Paediatric disorders R-numbers: R29 Signed-off version 5.0	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Hermansky-Pudlak syndrome 2 608233
Green in Pigmentary skin disorders R-numbers: R236 Signed-off version 3.0	BIALLELIC, autosomal or pseudoautosomal	Phenotypes HERMANSKY-PUDLAK SYNDROME 2, Hermansky-Pudlak syndrome, HPS2
Green in Primary immunodeficiency or monogenic inflammatory bowel disease R-numbers: R15 Signed-off version 4.0	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
Green in Pulmonary fibrosis familial R-numbers: R421 Signed-off version 1.3	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Hermansky-Pudlak syndrome 2, OMIM:608233