Ocular and oculo-cutaneous albinism

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

3 reviews

Olivia Niblock (Genomics England Curator)

Comment on list classification: After clinical comment, we have decided to make this gene green.
Created: 7 Aug 2017, 7:31 a.m.

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

Green List (high evidence)

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Hermansky-Pudlak syndrome 4

Publications

Chris Campbell (GEL)

Red List (low evidence)

Reported in >3 families with HPS4. Oculocutaneous albinism is a presenting feature of this syndrome
Created: 27 Apr 2017, 1:49 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Hermansky-Pudlak syndrome 4

Publications

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

History Filter Activity

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)

HPS4 was created by chriscampbell

27 Apr 2017, Gel status: 0

Added New Source

Chris Campbell (GEL)

HPS4 was added to Ocular and oculo-cutaneous albinismpanel. Sources: Expert list,Literature