Ocular and oculo-cutaneous albinism
Gene: HPS4
HPS4 (HPS4, biogenesis of lysosomal organelles complex 3 subunit 2)
EnsemblGeneIds (GRCh38): ENSG00000100099
EnsemblGeneIds (GRCh37): ENSG00000100099
OMIM: 606682, Gene2Phenotype
HPS4 is in 10 panels
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.
Chris Campbell (GEL)
Reported in >3 families with HPS4. Oculocutaneous albinism is a presenting feature of this syndromeCreated: 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
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- Expert list
- Literature
- Phenotypes
-
- Hermansky-Pudlak syndrome 4
- OMIM
- 606682
- Clinvar variants
- Variants in HPS4
- Penetrance
- Complete
- Publications
- Panels with this gene
-
- Primary immunodeficiency or monogenic inflammatory bowel disease
- Bleeding and platelet disorders
- Pulmonary fibrosis familial
- Familial pulmonary fibrosis
- Albinism or congenital nystagmus
- Inherited bleeding disorders
- Gastrointestinal epithelial barrier disorders
- COVID-19 research
- Infantile enterocolitis & monogenic inflammatory bowel disease
- Ocular and oculo-cutaneous albinism
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