Congenital nystagmus
Gene: HPS1
Hermansky-Pudlak syndrome (HPS) is a rare autosomal recessive disorder in which oculocutaneous albinism, bleeding, and lysosomal ceroid storage result from defects of multiple cytoplasmic organelles: melanosomes, platelet-dense granules, and lysosomes. Well established gene-disease association.
Nystagmus is a feature.Created: 3 Jun 2021, 7:06 a.m. | Last Modified: 25 Oct 2021, 4:43 a.m.
Panel Version: 0.48
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Hermansky-Pudlak syndrome 1, MIM# 203300; MONDO:0008748
Publications
Gene: hps1 has been classified as Green List (High Evidence).
Phenotypes for gene: HPS1 were changed from Hermansky-Pudlak syndrome 1 to Hermansky-Pudlak syndrome 1, MIM# 203300; MONDO:0008748
Added phenotypes Hermansky-Pudlak syndrome 1 for gene: HPS1
gene: HPS1 was added gene: HPS1 was added to Albinism or congenital nystagmus. Sources: Expert Review Green,NHS Genomic Medicine Service,Genomics England PanelApp Mode of inheritance for gene: HPS1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: HPS1 were set to 9705234; 10971344; 9497254; 7573033 Phenotypes for gene: HPS1 were set to Hermansky-Pudlak syndrome 1