Familial pulmonary fibrosis
Gene: BLOC1S3EnsemblGeneIds (GRCh38): ENSG00000189114
EnsemblGeneIds (GRCh37): ENSG00000189114
OMIM: 609762, Gene2Phenotype
BLOC1S3 is in 4 panels
2 reviews
Philip Molyneaux (Imperial College)
Associated with HP Type 8, with no evidence of fibrosisCreated: 26 Apr 2017, 9:47 a.m.
Alice Gardham (Genomics England)
Mutations only reported in one family, with no known pulmonary fibrosisCreated: 9 Feb 2017, 9:47 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Hermansky-Pudlak syndrome 8 614077
Publications
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Red
- Emory Genetics Laboratory
- Phenotypes
-
- Hermansky-Pudlak syndrome 8, 614077
- OMIM
- 609762
- Clinvar variants
- Variants in BLOC1S3
- Penetrance
- Complete
- Publications
- Panels with this gene
History Filter Activity
panel promoted to version 1
Louise Daugherty (Genomics England Curator)Panel reviews were assessed, and panel was revised according to reviews and further curation. 27th April 2017
Set Phenotypes
Louise Daugherty (Genomics England Curator)Phenotypes for BLOC1S3 were set to Hermansky-Pudlak syndrome 8, 614077
Gene classified by Genomics England curator
Alice Gardham (Genomics England)This gene has been classified as Red List (Low Evidence).
Set Phenotypes
Alice Gardham (Genomics England)Phenotypes for BLOC1S3 were set to Hermansky-Pudlak syndrome 8 614077
Set publications
Alice Gardham (Genomics England)Publications for BLOC1S3 were set to 16385460
Set Mode of Inheritance
Alice Gardham (Genomics England)Mode of inheritance for BLOC1S3 was changed to BIALLELIC, autosomal or pseudoautosomal
Created
Ellen McDonagh (Genomics England Curator)BLOC1S3 was created by ellenmcdonagh
Added New Source
Ellen McDonagh (Genomics England Curator)BLOC1S3 was added to Familial pulmonary fibrosispanel. Sources: Emory Genetics Laboratory