BLOC1S6

biogenesis of lysosomal organelles complex 1 subunit 6
OMIM: 604310, Gene2Phenotype

10 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 10 panels
Red BLOC1S6 in COVID-19 research Level 2: Viral research Version 1.142	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red GRID V2.0North West GLH NHS GMS GRID V2.0 Victorian Clinical Genetics Services, London North GLH Victorian Clinical Genetics Services, London North GLH NHS GMS GRID V2.0 GRID V2.0North West GLH Expert Review Red Phenotypes Immune Dysregulation Hermansky-pudlak syndrome 9, 614171 HPS9, palladin deficiency (NK cell defect)
Red BLOC1S6 in Familial pulmonary fibrosis Level 3: Interstitial lung disorders Level 2: Respiratory disorders Version 1.31	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Emory Genetics Laboratory Phenotypes Hermansky-pudlak syndrome 9, 614171
Green BLOC1S6 in Inherited bleeding disorders Level 3: Haemostasis disorders Level 2: Haematological and immunological disorders Version 1.178	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green BRIDGE Study Tier 1 Gene Phenotypes Hermansky-Pudlak syndrome
Green BLOC1S6 in Albinism or congenital nystagmus Version 3.5 Latest signed off version: v3.0 (22 Mar 2023)	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Phenotypes ?Hermansky-pudlak syndrome 9 614171 AR
Green BLOC1S6 in Primary immunodeficiency or monogenic inflammatory bowel disease Version 4.202 Latest signed off version: v4.0 (22 Mar 2023)	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services, London North GLH NHS GMS GRID V2.0 GRID V2.0North West GLH Phenotypes Hermansky-pudlak syndrome 9, 614171 HPS9, palladin deficiency (NK cell defect) Immune Dysregulation
Green BLOC1S6 in Bleeding and platelet disorders Version 3.10 Latest signed off version: v3.0 (22 Mar 2023)	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 614171 ?Hermansky-pudlak syndrome 9
Amber BLOC1S6 in Fetal anomalies Version 3.164 Latest signed off version: v3.0 (22 Mar 2023)	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber PAGE DD-Gene2Phenotype Phenotypes HERMANSKY-PUDLAK SYNDROME 9
Green BLOC1S6 in DDG2P Version 3.88 Latest signed off version: v3.1 (22 Mar 2023) Component of the following Super Panels: Paediatric disorders	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green DD-Gene2Phenotype Phenotypes HERMANSKY-PUDLAK SYNDROME 9 614171
Red BLOC1S6 in Monogenic hearing loss Level 3: Non-syndromic hearing loss Level 2: Hearing and ear disorders Version 4.38 Latest signed off version: v4.0 (22 Mar 2023) Component of the following Super Panels: Paediatric disorders	review	Unknown	Sources Expert list
Green BLOC1S6 in Severe Paediatric Disorders Version 1.184	review	BIALLELIC, autosomal or pseudoautosomal	Sources Next Generation Children Project Expert Review Green Expert list Phenotypes ?Hermansky-pudlak syndrome 9, 614171