Albinism or congenital nystagmus

Gene: BLOC1S3

Amber List (moderate evidence)

BLOC1S3 (biogenesis of lysosomal organelles complex 1 subunit 3)
EnsemblGeneIds (GRCh38): ENSG00000189114
EnsemblGeneIds (GRCh37): ENSG00000189114
OMIM: 609762, Gene2Phenotype
BLOC1S3 is in 5 panels

2 reviews

Ivone Leong (Genomics England Curator)

Green List (high evidence)

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

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

Details

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

History Filter Activity

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