Albinism or congenital nystagmus

Gene: HPS4

Green List (high evidence)

HPS4 (HPS4, biogenesis of lysosomal organelles complex 3 subunit 2)
EnsemblGeneIds (GRCh38): ENSG00000100099
EnsemblGeneIds (GRCh37): ENSG00000100099
OMIM: 606682, Gene2Phenotype
HPS4 is in 10 panels

0 reviews

History Filter Activity

3 Jan 2019, Gel status: 4

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

Ellen McDonagh (Genomics England Curator)

gene: HPS4 was added gene: HPS4 was added to Albinism or congenital nystagmus. Sources: Expert Review Green Mode of inheritance for gene: HPS4 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: HPS4 were set to 11836498; 15108212 Phenotypes for gene: HPS4 were set to Hermansky-Pudlak syndrome 4