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Primary immunodeficiency or monogenic inflammatory bowel disease v2.529 BLOC1S6 Arina Puzriakova Tag for-review was removed from gene: BLOC1S6.
Primary immunodeficiency or monogenic inflammatory bowel disease v2.529 BLOC1S6 Arina Puzriakova commented on gene: BLOC1S6
Primary immunodeficiency or monogenic inflammatory bowel disease v2.528 BLOC1S6 Arina Puzriakova Source Expert Review Green was added to BLOC1S6.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Primary immunodeficiency or monogenic inflammatory bowel disease v2.173 BLOC1S6 Eleanor Williams Tag for-review tag was added to gene: BLOC1S6.
Primary immunodeficiency or monogenic inflammatory bowel disease v2.173 BLOC1S6 Eleanor Williams Classified gene: BLOC1S6 as Amber List (moderate evidence)
Primary immunodeficiency or monogenic inflammatory bowel disease v2.173 BLOC1S6 Eleanor Williams Gene: bloc1s6 has been classified as Amber List (Moderate Evidence).
Primary immunodeficiency or monogenic inflammatory bowel disease v2.124 BLOC1S6 Eleanor Williams changed review comment from: Provisionally associated with ?Hermansky-pudlak syndrome 9 #614171 (AR) in OMIM.
BLOC1S6 is also known as PLDN and HPS9.

PMID: 32245340 - Michaud et al 2020 - report 1 patient presenting with ocular features of albinism. Genetic analysis revealed two compound heterozygous variants in the BLOC1S6 gene. Extended hematological studies confirmed the platelet storage pool disease with absence of dense granules and abnormal platelet aggregation. (Abstract only accessed).

PMID: 22461475 - Badolato et al 2012 - report a northern Italian girl with oculocutaneous albinism, nystagmus, and normal neurologic development who presented with recurrent cutaneous infections but without hemorrhagic episodes. She had thrombocytopenia and leukopenia, with normal platelet aggregation. WES found a homozygous nonsense mutation, c.232C > T (p.Q78X) in PLDN (BLOC1S6). This variant was confirmed homozygous in the patient and heterozygous in her parents by Sanger sequencing, and was associated with absent PLDN protein expression

PMID: 26575419 - Yousaf et al 2016 - report a Pakistani family in which the proband had a nonsense mutation is the HPS9/PLDN gene (c.232C>T, p.Gln78*). The 4-year-old female patient reported here, had Oculocutaneous albinism, photophobia, nystagmus, prolonged bleeding and clotting times, which indicate platelet dysfunction.

PMID: 21665000 - Cullinane et al 2011 - RETRACTED PAPER - report 1 9-month old male patient of Indian ancestry with a homozygous c.232C>T; p.Gln78Och mutation and HPS-like phenotype. This paper has been retracted due to falsified and/or fabricated gel images which represent expression of PLDN in fibroblasts and melanocytes.

Summary: 3 reports + retracted paper. 2 out of the 3 patients had abnormal platelet aggregation.; to: Provisionally associated with ?Hermansky-pudlak syndrome 9 #614171 (AR) in OMIM.
BLOC1S6 is also known as PLDN and HPS9.

PMID: 32245340 - Michaud et al 2020 - report 1 patient presenting with ocular features of albinism. Genetic analysis revealed two compound heterozygous variants in the BLOC1S6 gene. Extended hematological studies confirmed the platelet storage pool disease with absence of dense granules and abnormal platelet aggregation. (Abstract only accessed).

PMID: 22461475 - Badolato et al 2012 - report a northern Italian girl with oculocutaneous albinism, nystagmus, and normal neurologic development who presented with recurrent cutaneous infections but without hemorrhagic episodes. She had thrombocytopenia and leukopenia, with normal platelet aggregation. WES found a homozygous nonsense mutation, c.232C > T (p.Q78X) in PLDN (BLOC1S6). This variant was confirmed homozygous in the patient and heterozygous in her parents by Sanger sequencing, and was associated with absent PLDN protein expression

PMID: 26575419 - Yousaf et al 2016 - report a Pakistani family in which the proband had a nonsense mutation is the HPS9/PLDN gene (c.232C>T, p.Gln78*). The 4-year-old female patient reported here, had Oculocutaneous albinism, photophobia, nystagmus, prolonged bleeding and clotting times, which indicate platelet dysfunction.

PMID: 21665000 - Cullinane et al 2011 - RETRACTED PAPER - report 1 9-month old male patient of Indian ancestry with a homozygous c.232C>T; p.Gln78Och mutation and HPS-like phenotype. This paper has been retracted due to falsified and/or fabricated gel images which represent expression of PLDN in fibroblasts and melanocytes.

Summary: 3 reports + retracted paper. 2 out of the 3 patients had abnormal platelet aggregation. The 3rd had thrombocytopenia and leukopenia, with normal platelet aggregation.
Primary immunodeficiency or monogenic inflammatory bowel disease v2.124 BLOC1S6 Eleanor Williams Publications for gene: BLOC1S6 were set to 22461475,20301464,26575419
Primary immunodeficiency or monogenic inflammatory bowel disease v2.123 BLOC1S6 Eleanor Williams reviewed gene: BLOC1S6: Rating: ; Mode of pathogenicity: None; Publications: 32245340, 22461475, 26575419, 21665000; Phenotypes: ; Mode of inheritance: None
Primary immunodeficiency or monogenic inflammatory bowel disease v2.51 BLOC1S6 Zornitza Stark edited their review of gene: BLOC1S6: Changed rating: AMBER
Primary immunodeficiency or monogenic inflammatory bowel disease v2.46 BLOC1S6 Zornitza Stark reviewed gene: BLOC1S6: Rating: RED; Mode of pathogenicity: None; Publications: 32245340; Phenotypes: Hermansky-Pudlak syndrome 9, MIM# 614171; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Primary immunodeficiency or monogenic inflammatory bowel disease v2.36 C1S Louise Daugherty edited their review of gene: C1S: Added comment: Added publication referenced by IUIS december 2019 update; Changed rating: AMBER; Changed publications: 27745832
Primary immunodeficiency or monogenic inflammatory bowel disease v2.35 C1S Louise Daugherty Publications for gene C1S were updated from 11390518; 9856483; 20727163 to 27745832; 11390518; 20727163; 9856483
Primary immunodeficiency or monogenic inflammatory bowel disease v1.130 BLOC1S6 Louise Daugherty commented on gene: BLOC1S6: ?Hermansky-Pudlak: one patient - amber, relevant phenotype
Primary immunodeficiency or monogenic inflammatory bowel disease v1.130 BLOC1S6 Louise Daugherty Source Expert Review Red was added to BLOC1S6.
Source GRID V2.0North West GLH was added to BLOC1S6.
Source GRID V2.0 was added to BLOC1S6.
Source NHS GMS was added to BLOC1S6.
Source Victorian Clinical Genetics Services, London North GLH was added to BLOC1S6.
Rating Changed from No List (delete) to Red List (low evidence)
Primary immunodeficiency or monogenic inflammatory bowel disease v1.129 BLOC1S6 Louise Daugherty All sources for gene: BLOC1S6 were removed
Primary immunodeficiency or monogenic inflammatory bowel disease v1.128 BLOC1S6 Louise Daugherty Source GRID V2.0 was added to BLOC1S6.
Source Expert Review Red was added to BLOC1S6.
Source Victorian Clinical Genetics Services, London North GLH, NHS GMS was added to BLOC1S6.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.127 BLOC1S6 Louise Daugherty commented on gene: BLOC1S6: 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
Primary immunodeficiency or monogenic inflammatory bowel disease v1.127 BLOC1S6 Louise Daugherty commented on gene: BLOC1S6: 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
Primary immunodeficiency or monogenic inflammatory bowel disease v1.111 BLOC1S6 Ellen McDonagh Publications for gene: BLOC1S6 were set to
Primary immunodeficiency or monogenic inflammatory bowel disease v1.107 BLOC1S6 Louise Daugherty Source North West GLH was added to BLOC1S6.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.103 BLOC1S6 Louise Daugherty gene: BLOC1S6 was added
gene: BLOC1S6 was added to Primary immunodeficiency. Sources: Other
Mode of inheritance for gene: BLOC1S6 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: BLOC1S6 were set to Hermansky-pudlak syndrome 9, 614171; HPS9, palladin deficiency (NK cell defect); Immune Dysregulation
Review for gene: BLOC1S6 was set to RED
Added comment: 2 reviews
Sophie Hambleton (Newcastle University)
[email protected]
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

Created: 19 Jun 2018, 5:47 a.m.

Panel version: 0.1006
Delete
Your review
Louise Daugherty (Genomics England Curator)
[email protected]
I don't know

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.

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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.

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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.

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Comment on phenotypes: added PID phenotype
Created: 11 May 2018, 4:24 p.m.

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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.

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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.

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Created: 17 Apr 2018, 12:12 p.m.

Panel version: 0.679
Sources: Other
Primary immunodeficiency or monogenic inflammatory bowel disease v1.102 Louise Daugherty removed gene:BLOC1S6 from the panel
Primary immunodeficiency or monogenic inflammatory bowel disease v1.94 C1S Louise Daugherty commented on gene: C1S: 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 enough evidence to rate this gene Green.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.94 C1S Louise Daugherty commented on gene: C1S: 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 enough evidence to rate this gene Green.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.94 C1S Kimberly Gilmour reviewed gene: C1S: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Primary immunodeficiency or monogenic inflammatory bowel disease v1.94 C1S Tracy Briggs reviewed gene: C1S: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Primary immunodeficiency or monogenic inflammatory bowel disease v1.77 BLOC1S6 Louise Daugherty reviewed gene: BLOC1S6: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Primary immunodeficiency or monogenic inflammatory bowel disease v1.70 BLOC1S6 Louise Daugherty Publications for gene: BLOC1S6 were set to
Primary immunodeficiency or monogenic inflammatory bowel disease v1.69 BLOC1S6 Louise Daugherty Phenotypes for gene: BLOC1S6 were changed from to Hermansky-pudlak syndrome 9, 614171; HPS9, palladin deficiency (NK cell defect); Immune Dysregulation
Primary immunodeficiency or monogenic inflammatory bowel disease v1.68 BLOC1S6 Louise Daugherty Mode of inheritance for gene: BLOC1S6 was changed from to BIALLELIC, autosomal or pseudoautosomal
Primary immunodeficiency or monogenic inflammatory bowel disease v1.67 BLOC1S6 Louise Daugherty Source London North GLH was added to BLOC1S6.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.66 BLOC1S6 Louise Daugherty Source NHS GMS was added to BLOC1S6.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.65 BLOC1S6 Louise Daugherty gene: BLOC1S6 was added
gene: BLOC1S6 was added to Primary immunodeficiency. Sources: North West GLH
Mode of inheritance for gene: BLOC1S6 was set to
Primary immunodeficiency or monogenic inflammatory bowel disease v1.64 ADAM17 Louise Daugherty BLOC1S6 was changed to ADAM17
Primary immunodeficiency or monogenic inflammatory bowel disease v1.64 BLOC1S6 Louise Daugherty Source North West GLH was added to BLOC1S6.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.60 C1S Louise Daugherty Source NHS GMS was added to C1S.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.59 C1S Louise Daugherty Source North West GLH was added to C1S.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.58 C1S Louise Daugherty Source London North GLH was added to C1S.
Primary immunodeficiency or monogenic inflammatory bowel disease C1S Louise Daugherty commented on gene: C1S
Primary immunodeficiency or monogenic inflammatory bowel disease C1S Louise Daugherty marked gene: C1S as ready
Primary immunodeficiency or monogenic inflammatory bowel disease C1S Louise Daugherty edited their review of gene: C1S
Primary immunodeficiency or monogenic inflammatory bowel disease C1S Louise Daugherty classified C1S as Green List (high evidence)
Primary immunodeficiency or monogenic inflammatory bowel disease C1S Louise Daugherty commented on gene: C1S
Primary immunodeficiency or monogenic inflammatory bowel disease BLOC1S6 Louise Daugherty marked gene: BLOC1S6 as ready
Primary immunodeficiency or monogenic inflammatory bowel disease BLOC1S6 Louise Daugherty classified BLOC1S6 as Red List (low evidence)
Primary immunodeficiency or monogenic inflammatory bowel disease C1S Sophie Hambleton reviewed gene: C1S
Primary immunodeficiency or monogenic inflammatory bowel disease BLOC1S6 Sophie Hambleton reviewed gene: BLOC1S6
Primary immunodeficiency or monogenic inflammatory bowel disease C1S Louise Daugherty commented on gene: C1S
Primary immunodeficiency or monogenic inflammatory bowel disease C1S Louise Daugherty commented on gene: C1S
Primary immunodeficiency or monogenic inflammatory bowel disease C1S Louise Daugherty commented on gene: C1S
Primary immunodeficiency or monogenic inflammatory bowel disease C1S Louise Daugherty commented on gene: C1S
Primary immunodeficiency or monogenic inflammatory bowel disease BLOC1S6 Louise Daugherty edited their review of BLOC1S6
Primary immunodeficiency or monogenic inflammatory bowel disease C1S Louise Daugherty commented on C1S
Primary immunodeficiency or monogenic inflammatory bowel disease BLOC1S6 Louise Daugherty commented on BLOC1S6
Primary immunodeficiency or monogenic inflammatory bowel disease C1S Louise Daugherty commented on C1S
Primary immunodeficiency or monogenic inflammatory bowel disease C1S Louise Daugherty commented on C1S
Primary immunodeficiency or monogenic inflammatory bowel disease C1S Louise Daugherty reviewed C1S
Primary immunodeficiency or monogenic inflammatory bowel disease BLOC1S6 Louise Daugherty reviewed BLOC1S6
Primary immunodeficiency or monogenic inflammatory bowel disease C1S Louise Daugherty Added gene to panel
Primary immunodeficiency or monogenic inflammatory bowel disease C1S Louise Daugherty Added gene to panel