1. Panels
  2. Ocular and Oculocutaneous Albinism
  3. BLOC1S3
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Ocular and Oculocutaneous Albinism

Gene: BLOC1S3

Green List (high evidence)
BLOC1S3 (biogenesis of lysosomal organelles complex 1 subunit 3)
EnsemblGeneIds (GRCh38): ENSG00000189114
EnsemblGeneIds (GRCh37): ENSG00000189114
OMIM: 609762, Gene2Phenotype
BLOC1S3 is in 7 panels

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

5 unrelated families reported.
Created: 1 Jun 2021, 9:29 a.m. | Last Modified: 1 Jun 2021, 9:29 a.m.
Panel Version: 0.20

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Hermansky-Pudlak syndrome 8, MIM# 614077; MONDO:0013560

Publications

Created: 1 Jun 2021, 9:29 a.m.
Last Modified: 1 Jun 2021, 9:29 a.m.
Panel version: 0.20

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Hermansky-Pudlak syndrome 8, MIM# 614077
  • MONDO:0013560
OMIM
609762
Clinvar variants
Variants in BLOC1S3
Penetrance
None
Publications
Panels with this gene

History Filter Activity

1 Jun 2021, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: bloc1s3 has been classified as Green List (High Evidence).

1 Jun 2021, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: BLOC1S3 were changed from to Hermansky-Pudlak syndrome 8, MIM# 614077; MONDO:0013560

1 Jun 2021, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: BLOC1S3 were set to

1 Jun 2021, Gel status: 3

Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Mode of inheritance for gene: BLOC1S3 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal

17 Nov 2019, Gel status: 3

Created, Added New Source, Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: BLOC1S3 was added gene: BLOC1S3 was added to Ocular and oculocutaneous albinism_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: BLOC1S3 was set to Unknown