BLOC1S3

biogenesis of lysosomal organelles complex 1 subunit 3
OMIM: 609762, ClinGen, DECIPHER

7 panels

Panel Reviews Mode of inheritance Details
7 panels

Green BLOC1S3 in Ocular and Oculocutaneous Albinism


Level 2: Ophthalmological disorders
Version 1.12

1 review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Hermansky-Pudlak syndrome 8, MIM# 614077
  • MONDO:0013560

Green BLOC1S3 in Bleeding and Platelet Disorders


Level 2: Haematological disorders
Version 1.63

1 review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Hermansky-Pudlak syndrome 8, MIM# 614077
  • MONDO:0013560

Green BLOC1S3 in Mendeliome


Version 1.3795

1 review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Hermansky-Pudlak syndrome 8, MIM# 614077
  • MONDO:0013560

Red BLOC1S3 in Additional findings_Paediatric


Level 2: Screening
Version 0.278

0 reviews BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • BabySeq Category C gene
Phenotypes
  • Hermansky-Pudlak syndrome 8

Green BLOC1S3 in Congenital nystagmus


Level 2: Ophthalmological disorders
Version 1.23

1 review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Genomics England PanelApp
  • NHS Genomic Medicine Service
  • Victorian Clinical Genetics Services
Phenotypes
  • Hermansky-Pudlak syndrome 8, OMIM:614077, MONDO:0013560

Red BLOC1S3 in Genomic newborn screening: BabyScreen+


Level 2: Screening
Version 1.141

0 reviews BIALLELIC, autosomal or pseudoautosomal
Sources
  • BabySeq Category C gene
  • Expert Review Red
Phenotypes
  • Hermansky-Pudlak syndrome 8

Green BLOC1S3 in Transplant Co-Morbidity


Level 2: Screening
Version 0.20

0 reviews BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Hermansky-Pudlak syndrome 8, MIM# 614077
  • MONDO:0013560