Ocular and oculo-cutaneous albinism

Gene: HPS1

Green List (high evidence)

HPS1 (HPS1, biogenesis of lysosomal organelles complex 3 subunit 1)
EnsemblGeneIds (GRCh38): ENSG00000107521
EnsemblGeneIds (GRCh37): ENSG00000107521
OMIM: 604982, Gene2Phenotype
HPS1 is in 17 panels

3 reviews

Olivia Niblock (Genomics England Curator)

Comment on list classification: After clinical discussion, we have decided that the evidence for this gene's involvement is high.
Created: 7 Aug 2017, 7:27 a.m.

Luke Michaels (University of Southampton; University Hospital Southampton NHS Foundation Trus)

Green List (high evidence)

Ocular and oculo-cutaneous albinism are characteristic features of HPS1. HPS1 is commonly found in people of Puerto Rican or Swiss descent.
Created: 13 Jul 2017, 10:17 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Hermansky-Pudlak syndrome 1

Publications

Chris Campbell (GEL)

Red List (low evidence)

Reported several times in patients with Hermansky-Pudlak syndrome 1(>3 families), of which a primary presenting feature is oculocutaneous albinism.
Created: 27 Apr 2017, 1:34 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Hermansky-Pudlak syndrome 1

Publications

Variants in this GENE are reported as part of current diagnostic practice

History Filter Activity

7 Aug 2017, Gel status: 4

Set publications

Olivia Niblock (Genomics England Curator)

Publications for HPS1 were set to 9705234; 10971344; 9497254; 7573033

7 Aug 2017, Gel status: 4

Gene classified by Genomics England curator

Olivia Niblock (Genomics England Curator)

This gene has been classified as Green List (High Evidence).

27 Apr 2017, Gel status: 0

Created

Chris Campbell (GEL)

HPS1 was created by chriscampbell

27 Apr 2017, Gel status: 0

Added New Source

Chris Campbell (GEL)

HPS1 was added to Ocular and oculo-cutaneous albinismpanel. Sources: Expert list,Literature