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  3. BLOC1S6
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Bleeding and Platelet Disorders

Gene: BLOC1S6

Green List (high evidence)
BLOC1S6 (biogenesis of lysosomal organelles complex 1 subunit 6)
EnsemblGeneIds (GRCh38): ENSG00000104164
EnsemblGeneIds (GRCh37): ENSG00000104164
OMIM: 604310, Gene2Phenotype
BLOC1S6 is in 9 panels

2 reviews

Bryony Thompson (Royal Melbourne Hospital)

Green List (high evidence)

Now six individuals from 5 unrelated families with biallelic variants (includes the single individual reported in PMID: 32245340 with the pigmentary and platelet abnormalities only). This does not include the retracted article (PMID: 21665000). There is also a null mouse model with platelet storage pool deficiency and pigment dillution.
Created: 29 Mar 2022, 2:14 a.m. | Last Modified: 29 Mar 2022, 2:14 a.m.
Panel Version: 0.12233

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Hermansky-Pudlak syndrome 9, MIM# 614171

Publications

Created: 29 Mar 2022, 2:14 a.m.
Last Modified: 29 Mar 2022, 2:14 a.m.
Panel version: Imported from Mendeliome panel version 0.12233

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

I don't know

At least three unrelated families reported, two of the individuals had the same homozygous variant. Note that one of the articles has been retracted due to some of the data having been falsified.
Sources: Expert list
Created: 11 Aug 2020, 4:47 a.m. | Last Modified: 4 Oct 2020, 12:56 a.m.
Panel Version: 0.202

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Hermansky-pudlak syndrome 9, MIM# 614171

Publications

Created: 11 Aug 2020, 4:47 a.m.
Last Modified: 4 Oct 2020, 12:56 a.m.
Panel version: 0.202

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert list
Phenotypes
  • Hermansky-pudlak syndrome 9, MIM# 614171
OMIM
604310
Clinvar variants
Variants in BLOC1S6
Penetrance
None
Publications
Panels with this gene

History Filter Activity

29 Mar 2022, Gel status: 3

Set publications

Bryony Thompson (Royal Melbourne Hospital)

Publications for gene: BLOC1S6 were set to 32245340; 22461475

29 Mar 2022, Gel status: 3

Entity classified by Genomics England curator

Bryony Thompson (Royal Melbourne Hospital)

Gene: bloc1s6 has been classified as Green List (High Evidence).

4 Oct 2020, Gel status: 2

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: bloc1s6 has been classified as Amber List (Moderate Evidence).

11 Aug 2020, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: bloc1s6 has been classified as Green List (High Evidence).

11 Aug 2020, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: bloc1s6 has been classified as Green List (High Evidence).

11 Aug 2020, Gel status: 1

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

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: BLOC1S6 was added gene: BLOC1S6 was added to Bleeding Disorders. Sources: Expert list Mode of inheritance for gene: BLOC1S6 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: BLOC1S6 were set to 32245340; 22461475 Phenotypes for gene: BLOC1S6 were set to Hermansky-pudlak syndrome 9, MIM# 614171 Review for gene: BLOC1S6 was set to GREEN