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  3. BLOC1S3
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Albinism or congenital nystagmus

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 4 panels

2 reviews

Ivone Leong (Genomics England Curator)

Green List (high evidence)

The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Created: 3 Mar 2022, 4:42 p.m. | Last Modified: 3 Mar 2022, 4:42 p.m.
Panel Version: 1.22
This gene is associated with a relevant phenotype in OMIM and Gene2Phenotype. There are >3 unrelated cases of affected patients with variants in this gene. Therefore, there is enough evidence to support a gene-disease assocation. This gene should be promoted to Green status at the next review.
Created: 26 Jan 2021, 10:51 a.m. | Last Modified: 26 Jan 2021, 10:51 a.m.
Panel Version: 1.15
Created: 26 Jan 2021, 10:51 a.m.
Last Modified: 26 Jan 2021, 10:51 a.m.
Panel version: 1.22

Jonathan Callaway (Wessex Regional Genetics Laboratory)

I don't know

Limited evidence available. Comments from HGMDpro: Only 4 variants in total (1 nonsense, 2 frameshift, 1 deletion of 24bp); 2 of these have Hermansky-Pudlak syndrome and 2 of these have albinism as the reported phenotype
Created: 20 Mar 2019, 4:11 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Hermansky-Pudlak syndrome 8 614077 AR

Created: 20 Mar 2019, 4:11 p.m.

Panel version: 0.17

Details

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

History Filter Activity

3 Mar 2022, Gel status: 3

Removed Tag

Ivone Leong (Genomics England Curator)

Tag for-review was removed from gene: BLOC1S3.

3 Mar 2022, Gel status: 3

Added New Source, Status Update

Ivone Leong (Genomics England Curator)

Source Expert Review Green was added to BLOC1S3. Rating Changed from Amber List (moderate evidence) to Green List (high evidence)

26 Jan 2021, Gel status: 2

Set publications

Ivone Leong (Genomics England Curator)

Publications for gene: BLOC1S3 were set to

26 Jan 2021, Gel status: 2

Added Tag

Ivone Leong (Genomics England Curator)

Tag for-review tag was added to gene: BLOC1S3.

26 Jan 2021, Gel status: 2

Set Phenotypes

Ivone Leong (Genomics England Curator)

Phenotypes for gene: BLOC1S3 were changed from Hermansky-Pudlak syndrome 8 614077 AR to Hermansky-Pudlak syndrome 8, OMIM:614077, MONDO:0013560

20 Mar 2019, Gel status: 2

Added New Source, Set Phenotypes, Status Update

Ivone Leong (Genomics England Curator)

Source Expert Review Amber was added to BLOC1S3. Added phenotypes Hermansky-Pudlak syndrome 8 614077 AR for gene: BLOC1S3 Rating Changed from Red List (low evidence) to Amber List (moderate evidence)

20 Mar 2019, Gel status: 1

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

Ivone Leong (Genomics England Curator)

gene: BLOC1S3 was added gene: BLOC1S3 was added to Albinism or congenital nystagmus. Sources: NHS GMS Mode of inheritance for gene: BLOC1S3 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: BLOC1S3 were set to Hermansky-Pudlak syndrome 8 614077 AR