Ocular and Oculocutaneous Albinism
Gene: BLOC1S6

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 This does not include the retracted article (PMID: 21665000).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

Three individuals reported, two with same homozygous variant but one of these subsequently retracted due to some of the data having been falsified. Third individual with compound het variants, pigment and platelet abnormalities.
Created: 9 Apr 2020, 1:43 a.m. | Last Modified: 9 Apr 2020, 1:43 a.m.

Panel Version: 0.2

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Hermansky-Pudlak syndrome 9, MIM# 614171

Publications

Created: 9 Apr 2020, 1:43 a.m.
Last Modified: 9 Apr 2020, 1:43 a.m.
Panel version: 0.2

Details

Mode of Inheritance

BIALLELIC, autosomal or pseudoautosomal

Sources

Expert Review Green
Victorian Clinical Genetics Services

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 22461475; 21665000; 32245340

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).

9 Apr 2020, Gel status: 2