15 Aug 2019
Undiagnosed metabolic disorders v1.162
HPS1
Sarah Leigh Publications for gene: HPS1 were set to 27604308
15 Aug 2019
Undiagnosed metabolic disorders v1.161
HPS1
Sarah Leigh Classified gene: HPS1 as Green List (high evidence)
15 Aug 2019
Undiagnosed metabolic disorders v1.161
HPS1
Sarah Leigh Added comment: Comment on list classification: Associated with relevant phenotype in OMIM and as confirmed Gen2Phen gene. At least 7 variants reported in at least 5 unrelated cases.
15 Aug 2019
Undiagnosed metabolic disorders v1.161
HPS1
Sarah Leigh Gene: hps1 has been classified as Green List (High Evidence).
15 Aug 2019
Undiagnosed metabolic disorders v1.160
HPS1
Sarah Leigh Deleted their comment
15 Aug 2019
Undiagnosed metabolic disorders v1.160
HPS1
Sarah Leigh Deleted their comment
15 Aug 2019
Undiagnosed metabolic disorders v1.160
HPS1
Sarah Leigh Deleted their comment
15 Aug 2019
Undiagnosed metabolic disorders v1.160
HPS1
Sarah Leigh Added comment: Comment on phenotypes: Hermansky-Pudlak Syndrome (Other lysosomal disorders);Infantile enterocolitis & monogenic inflammatory bowel disease;Inherited bleeding disorders
15 Aug 2019
Undiagnosed metabolic disorders v1.160
HPS1
Sarah Leigh Phenotypes for gene: HPS1 were changed from Hermansky-Pudlak Syndrome (Other lysosomal disorders); Infantile enterocolitis & monogenic inflammatory bowel disease; Inherited bleeding disorders to Hermansky-Pudlak syndrome 1 203300
06 Jan 2017
Undiagnosed metabolic disorders
HPS1
Sarah Leigh edited their review of HPS1
06 Jan 2017
Undiagnosed metabolic disorders
HPS1
Sarah Leigh edited their review of HPS1
06 Jan 2017
Undiagnosed metabolic disorders
HPS1
Sarah Leigh edited their review of HPS1
06 Jan 2017
Undiagnosed metabolic disorders
HPS1
Sarah Leigh reviewed HPS1