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  2. Infantile enterocolitis & monogenic inflammatory bowel disease
  3. HPS6
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Infantile enterocolitis & monogenic inflammatory bowel disease

Gene: HPS6

Green List (high evidence)
HPS6 (HPS6, biogenesis of lysosomal organelles complex 2 subunit 3)
EnsemblGeneIds (GRCh38): ENSG00000166189
EnsemblGeneIds (GRCh37): ENSG00000166189
OMIM: 607522, Gene2Phenotype
HPS6 is in 8 panels

2 reviews

Neil shah (GOSH)

Green List (high evidence)

Created: 12 Oct 2016, 7:31 a.m.

Panel version: 0.122

Sarah Leigh (Genomics England Curator)

Associated with phenotype in OMIM, not in G2P / DD. Present on UKGTN Very Early Onset Inflammatory Bowel Disease 40 Gene Panel and Emory Genetics Laboratory Early Onset Inflammatory Bowel Disease: Sequencing Panel. Eight variants reported
Created: 5 Sep 2016, 6:51 a.m.
Created: 2 Sep 2016, 3:51 p.m.

Panel version: 0.49

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Emory Genetics Laboratory
  • Illumina TruGenome Clinical Sequencing Services
  • Radboud University Medical Center, Nijmegen
  • UKGTN
  • Expert list
Phenotypes
  • Hermansky-Pudlak syndrome 6 614075
OMIM
607522
Clinvar variants
Variants in HPS6
Penetrance
Complete
Panels with this gene

History Filter Activity

14 Oct 2016, Gel status: 4

panel promoted to version 1

Ellen McDonagh (Genomics England Curator)

14th Oct 2016: panel revised according to expert review, additional curation for evidence level and internal clinical review, and promoted to version 1.

2 Sep 2016, Gel status: 4

Upload gene information

Sarah Leigh (Genomics England Curator)

HPS6 was added to Infantile enterocolitis & monogenic inflammatory bowel diseasepanel. Sources: Emory Genetics Laboratory,Illumina TruGenome Clinical Sequencing Services,Radboud University Medical Center, Nijmegen,UKGTN

2 Sep 2016, Gel status: 0

Set Phenotypes

Sarah Leigh (Genomics England Curator)

Phenotypes for gene HPS6 were set to Hermansky-Pudlak syndrome 6 614075

10 May 2016, Gel status: 0

Added New Source

Ellen McDonagh (Genomics England Curator)

HPS6 was added to Infantile enterocolitis & monogenic inflammatory bowel diseasepanel. Sources: Expert list

10 May 2016, Gel status: 0

Created

Ellen McDonagh (Genomics England Curator)

HPS6 was created by ellenmcdonagh