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  3. HPS3
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Ocular and oculo-cutaneous albinism

Gene: HPS3

Green List (high evidence)
HPS3 (HPS3, biogenesis of lysosomal organelles complex 2 subunit 1)
EnsemblGeneIds (GRCh38): ENSG00000163755
EnsemblGeneIds (GRCh37): ENSG00000163755
OMIM: 606118, Gene2Phenotype
HPS3 is in 5 panels

3 reviews

Olivia Niblock (Genomics England Curator)

Comment on list classification: After clinical discussion, we have decided that the evidence for this gene is high enough to grant 'green' status
Created: 7 Aug 2017, 7:30 a.m.
Created: 7 Aug 2017, 7:30 a.m.

Panel version: 1.9

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

Green List (high evidence)

Ocular and oculo-cutaneous albinism are component featurees of Hermansky-Pudlak Syndrome 3.
Created: 13 Jul 2017, 8:20 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
HERMANSKY-PUDLAK SYNDROME 3

Publications

Created: 13 Jul 2017, 8:20 p.m.

Panel version: 1.5

Chris Campbell (GEL)

Red List (low evidence)

Homozygous and compound heterozygous mutations found in >3 families with diagnosis of Hermansky-Pudlak syndrome 3. Patients exhibited pigment dilution.
Created: 27 Apr 2017, 1:50 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Hermansky-Pudlak syndrome 3

Publications

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

Created: 27 Apr 2017, 1:50 p.m.

Panel version: 1.4

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert Review
  • Literature
Phenotypes
  • Hermansky-Pudlak syndrome 3
OMIM
606118
Clinvar variants
Variants in HPS3
Penetrance
Complete
Publications
Panels with this gene

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)

HPS3 was created by chriscampbell

27 Apr 2017, Gel status: 0

Added New Source

Chris Campbell (GEL)

HPS3 was added to Ocular and oculo-cutaneous albinismpanel. Sources: Expert Review,Literature