Congenital nystagmus
Gene: HPS5
Nystagmus is a feature, secondary to ocular albinism.Created: 25 Oct 2021, 4:46 a.m. | Last Modified: 25 Oct 2021, 4:46 a.m.
Panel Version: 0.53
PMID: 28296950;
- 11 unrelated probands listed
- all PTVs except 2 missense in a pair of siblings
PMID: 32725903
- Chinese cohort, 4x probands
- all PTVs except 3 missenseCreated: 21 Sep 2020, 6:27 a.m. | Last Modified: 21 Sep 2020, 6:27 a.m.
Panel Version: 0.9
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Hermansky-Pudlak syndrome 5 (MIM#614074),
Publications
Gene: hps5 has been classified as Green List (High Evidence).
Phenotypes for gene: HPS5 were changed from Hermansky-Pudlak syndrome 5 to Hermansky-Pudlak syndrome 5 (MIM#614074)
Publications for gene: HPS5 were set to 12548288; 18182080; 27593200; 26785811; 28296950
Added phenotypes Hermansky-Pudlak syndrome 5 for gene: HPS5
gene: HPS5 was added gene: HPS5 was added to Albinism or congenital nystagmus. Sources: Expert Review Green,NHS Genomic Medicine Service,Genomics England PanelApp Mode of inheritance for gene: HPS5 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: HPS5 were set to 12548288; 18182080; 27593200; 26785811; 28296950 Phenotypes for gene: HPS5 were set to Hermansky-Pudlak syndrome 5