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BabyScreen+ newborn screening

Gene: HPS4

Red List (low 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

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Red List (low evidence)

Established gene-disease association.

Congenital onset.

No specific treatment.
Created: 11 Dec 2022, 10:12 p.m. | Last Modified: 11 Dec 2022, 10:12 p.m.
Panel Version: 0.1284

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Hermansky-Pudlak syndrome 4, MIM# 614073

History Filter Activity

28 Jul 2024, Gel status: 1

Set Phenotypes

Tommy Li (Murdoch Children's Research Institute)

Added phenotypes Hermansky-Pudlak syndrome 4, MIM# 614073 for gene: HPS4

11 Dec 2022, Gel status: 1

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: hps4 has been classified as Red List (Low Evidence).

11 Dec 2022, Gel status: 1

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: HPS4 were changed from Hermansky-Pudlak syndrome 4 to Hermansky-Pudlak syndrome 4, MIM# 614073

11 Dec 2022, Gel status: 1

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: hps4 has been classified as Red List (Low Evidence).

18 Sep 2022, Gel status: 3

Created, Added New Source, Set mode of inheritance, Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: HPS4 was added gene: HPS4 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: HPS4 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: HPS4 were set to Hermansky-Pudlak syndrome 4