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STRs in panel
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COVID-19 research

Gene: BLOC1S6

Red List (low evidence)

BLOC1S6 (biogenesis of lysosomal organelles complex 1 subunit 6)
EnsemblGeneIds (GRCh38): ENSG00000104164
EnsemblGeneIds (GRCh37): ENSG00000104164
OMIM: 604310, Gene2Phenotype
BLOC1S6 is in 10 panels

2 reviews

Sophie Hambleton (Newcastle University)

Red List (low evidence)

Only 1 reported patient (a previous report had to be retracted).
Created: 19 Jun 2018, 5:47 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Louise Daugherty (Genomics England Curator)

I don't know

?Hermansky-Pudlak: one patient - amber, relevant phenotype
Created: 26 Sep 2019, 3:50 p.m. | Last Modified: 26 Sep 2019, 3:50 p.m.
Panel Version: 1.130
Gene rating submitted by Kimberly Gilmour and Austen Worth on behalf of London North GLH for the GMS Immunology specialist test group. As discussed with the GMS Immunology Specialist Test Group during webex call 28th March 2019 and confirmed in follow up email 6th September the Specialist Test Group all agreed there is only enough evidence to rate this gene Red
Created: 26 Sep 2019, 2:50 p.m. | Last Modified: 26 Sep 2019, 2:50 p.m.
Panel Version: 1.127
Gene rating submitted by Tracy Briggs, David Gokhale and Abigal Rousseau on behalf of North West GLH for the GMS Immunology specialist test group. As discussed with the GMS Immunology Specialist Test Group during webex call 28th March 2019 and confirmed in follow up email on 20th June the Specialist Test Group all agreed there is only enough evidence to rate this gene Red


Genes with discrepant ratings (PID 100K vs sumbmitted LNGLH submitted Immunology lists)--agreed rating in webex call 28 March 2019
Created: 26 Sep 2019, 2:50 p.m. | Last Modified: 26 Sep 2019, 2:52 p.m.
Panel Version: 1.127
Comment on list classification: Changed from Amber to Red after external clinical review, only one bonafide case
Created: 20 Jun 2018, 3:10 p.m.
After review decided to keep as Amber- currently there is only one case for HPS9 need more individuals to determine if immunodeficiency is a feature of BLOC-1 deficiency
Created: 11 May 2018, 4:31 p.m.
Comment on publications: one one affected reported to date (2012). Added HPS gene review PMID: 20301464 (2017)
Created: 11 May 2018, 4:25 p.m.
Comment on phenotypes: added PID phenotype
Created: 11 May 2018, 4:24 p.m.
This gene was absent from the original PanelApp PID panel dataset (review April 2018). However it was listed in external expert immunodeficiency diagnostic gene list(s) GOSH or GRID. In this combined PID panel, this gene has been rated as AMBER and needs further curational review to assess pertinence prior to v1.
Created: 20 Apr 2018, 12:25 p.m.
Original metadata supplied by GRID. GRID Gene Symbol HGNC PanelApp check: BLOC1S6, GRID_Gene_Symbol: BLOC1S6, GRID_Transcript_ENS_Community submitted: ENST00000220531, GRID_Transcript_RefSeq: NM_012388.3, GRID_Transcript_ENS_used_on_Production: ENST00000220531
Created: 17 Apr 2018, 12:12 p.m.

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
Phenotypes
  • Immune Dysregulation
  • Hermansky-pudlak syndrome 9, 614171
  • HPS9, palladin deficiency (NK cell defect)
OMIM
604310
Clinvar variants
Variants in BLOC1S6
Penetrance
None
Publications
  • 224,614,752,030,146,000,000,000
Panels with this gene

History Filter Activity

1 Apr 2020, Gel status: 1

Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes

Ellen McDonagh (Genomics England Curator)

gene: BLOC1S6 was added gene: BLOC1S6 was added to Viral susceptibility. Sources: Victorian Clinical Genetics Services, London North GLH,GRID V2.0,NHS GMS,GRID V2.0North West GLH,Expert Review Red Mode of inheritance for gene: BLOC1S6 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: BLOC1S6 were set to 224,614,752,030,146,000,000,000 Phenotypes for gene: BLOC1S6 were set to Immune Dysregulation; Hermansky-pudlak syndrome 9, 614171; HPS9, palladin deficiency (NK cell defect)