Haematological malignancies cancer susceptibility
Gene: HPLH11 review
Ellen McDonagh (Genomics England Curator)
Comment on list classification: This has been removed as it is a 'phenotype only' locus type in HGNC and not a gene though it has a gene symbol. Not mapped to Ensembl coordinates.Created: 3 Apr 2019, 4:06 p.m.
Gene added to this panel because it is part of the OMIM phenotypic series for familial hemophagocytic lymphohistiocytosis which is associated with suseptibility to haematological maligancy, and the other genes in this series have been added.
Sources: OtherCreated: 3 Apr 2019, 4:03 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Hemophagocytic lymphohistiocytosis, familial, 1
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Removed
- Other
- Phenotypes
-
- Hemophagocytic lymphohistiocytosis, familial, 1
- Tags
- OMIM
- 267700
- Clinvar variants
- Variants in HPLH1
- Penetrance
- None
- Panels with this gene
History Filter Activity
Added Tag
Arina Puzriakova (Genomics England Curator)Tag curated_removed tag was added to gene: HPLH1.
Added Tag, Added Tag
Eleanor Williams (Genomics England Curator)Tag locus-type-phenotype-only tag was added to gene: HPLH1. Tag ensembl_ids_known_missing tag was added to gene: HPLH1.
Entity classified by Genomics England curator
Ellen McDonagh (Genomics England Curator)Gene: hplh1 has been removed from the panel.
Created, Added New Source, Set mode of inheritance, Set Phenotypes
Ellen McDonagh (Genomics England Curator)gene: HPLH1 was added gene: HPLH1 was added to Haematological malignancies cancer susceptibility. Sources: Other Mode of inheritance for gene: HPLH1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: HPLH1 were set to Hemophagocytic lymphohistiocytosis, familial, 1