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Cataract

Gene: HPS4

Amber List (moderate evidence)

HPS4 (HPS4, biogenesis of lysosomal organelles complex 3 subunit 2)
EnsemblGeneIds (GRCh38): ENSG00000100099
EnsemblGeneIds (GRCh37): ENSG00000100099
OMIM: 606682, Gene2Phenotype
HPS4 is in 15 panels

1 review

Lauren Akesson (Royal Melbourne Hospital)

I don't know

Some individuals with Hermansky-Pudlak syndrome have cataract (PMID: 8719678 - 3/55, genetic aetiology not identified) and these patients may benefit from cataract surgery (PMID: 27058854). Systemic steroids are thought to contribute to the lens opacities seen in this condition (PMID: 8719678). Cataract is not mentioned in the Gene Reviews article for this condition.
Created: 6 Apr 2020, 12:19 a.m. | Last Modified: 6 Apr 2020, 12:19 a.m.
Panel Version: 0.60

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Hermansky-Pudlak syndrome 4 (614073)

Publications

History Filter Activity

6 Apr 2020, Gel status: 2

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: hps4 has been classified as Amber List (Moderate Evidence).

6 Apr 2020, Gel status: 2

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: HPS4 were changed from to Hermansky-Pudlak syndrome 4 (614073)

6 Apr 2020, Gel status: 2

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: HPS4 were set to

6 Apr 2020, Gel status: 2

Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Mode of inheritance for gene: HPS4 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal

6 Apr 2020, Gel status: 2

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: hps4 has been classified as Amber List (Moderate Evidence).

17 Nov 2019, Gel status: 3

Created, Added New Source, Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: HPS4 was added gene: HPS4 was added to Cataract_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: HPS4 was set to Unknown