This Panel is marked as Deleted
GMS Immunology specialist test group-Vasculitis and Inflammation-LNGLH
Gene: HPS1
HPS1 (HPS1, biogenesis of lysosomal organelles complex 3 subunit 1)
EnsemblGeneIds (GRCh38): ENSG00000107521
EnsemblGeneIds (GRCh37): ENSG00000107521
OMIM: 604982, Gene2Phenotype
HPS1 is in 17 panels
EnsemblGeneIds (GRCh38): ENSG00000107521
EnsemblGeneIds (GRCh37): ENSG00000107521
OMIM: 604982, Gene2Phenotype
HPS1 is in 17 panels
2 reviews
Louise Daugherty (Genomics England Curator)
Initial gene list for Vasculitis and Inflammation panel (VIP Consensus Genes for Panels 17.12.18.xlsx) collated by Lucy Jenkins, NE Thames Regional Genetics Laboratory, Great Ormond Street Hospital for Children NHS Foundation Trust December 2018 on behalf of London North GLH for the GMS Immunology specialist test group. Gene Symbol submitted: HPS1; Suggested initial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? not submitted; Mode of inheritance: not submitted; Phenotypes: none submitted; PMID(s): not submitted; Comment: PanelApp panel name indicated if gene already present in Panelapp: Primary immunodeficiencyCreated: 27 Feb 2019, 3:14 p.m.
Lucy Jenkins (North Thames GMC & North East Thames Regional Genetics Service)
Gene rating submitted by Lucy Jenkins, NE Thames Regional Genetics Laboratory, Great Ormond Street Hospital for Children NHS Foundation Trust December 2018 on behalf of London North GLH for the GMS Immunology specialist test group.Created: 27 Feb 2019, 2:22 p.m.
Details
- Sources
-
- Expert Review Green
- NHS GMS
- London North GLH
- OMIM
- 604982
- Clinvar variants
- Variants in HPS1
- Penetrance
- None
- Panels with this gene
-
- Childhood onset dystonia, chorea or related movement disorder
- Pulmonary fibrosis familial
- Bleeding and platelet disorders
- Familial pulmonary fibrosis
- COVID-19 research
- Undiagnosed metabolic disorders
- Likely inborn error of metabolism
- Intellectual disability
- Pigmentary skin disorders
- Albinism or congenital nystagmus
- Primary immunodeficiency or monogenic inflammatory bowel disease
- Inherited bleeding disorders
- Fetal anomalies
- DDG2P
- Gastrointestinal epithelial barrier disorders
- Infantile enterocolitis & monogenic inflammatory bowel disease
- Ocular and oculo-cutaneous albinism
History Filter Activity
27 Feb 2019, Gel status: 3
Added New Source, Status Update
Louise Daugherty (Genomics England Curator)Source Expert Review Green was added to HPS1. Rating Changed from Red List (low evidence) to Green List (high evidence)
27 Feb 2019, Gel status: 1
Added New Source
Louise Daugherty (Genomics England Curator)Source NHS GMS was added to HPS1.
27 Feb 2019, Gel status: 1
Created, Added New Source, Set mode of inheritance
Louise Daugherty (Genomics England Curator)gene: HPS1 was added gene: HPS1 was added to GMS Immunology specialist test group-Vasculitis and Inflammation-LNGLH. Sources: London North GLH Mode of inheritance for gene: HPS1 was set to