BLOC1S1

biogenesis of lysosomal organelles complex 1 subunit 1
OMIM: 601444, Gene2Phenotype

2 panels

Panel Reviews Mode of inheritance Details
2 panels

Green BLOC1S1 in Mendeliome


Version 1.1891

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Neurodevelopmental disorder, MONDO:0700092, BLOC1S1-related

Green BLOC1S1 in Intellectual disability syndromic and non-syndromic


Level 2: Neurology and neurodevelopmental disorders
Version 0.6063

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Neurodevelopmental disorder, MONDO:0700092, BLOC1S1-related