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| Likely inborn error of metabolism - targeted testing not possible v1.153 | HPS1 | Sarah Leigh Added comment: Comment on phenotypes: Infantile enterocolitis & monogenic inflammatory bowel disease;Hermansky-Pudlak Syndrome (Other lysosomal disorders);Inherited bleeding disorders | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Likely inborn error of metabolism - targeted testing not possible v1.153 | HPS1 | Sarah Leigh Phenotypes for gene: HPS1 were changed from Infantile enterocolitis & monogenic inflammatory bowel disease; Hermansky-Pudlak Syndrome (Other lysosomal disorders); Inherited bleeding disorders to Hermansky-Pudlak syndrome 1 203300 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Likely inborn error of metabolism - targeted testing not possible v1.152 | HPS1 | Sarah Leigh Publications for gene: HPS1 were set to 27604308 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Likely inborn error of metabolism - targeted testing not possible v1.151 | HPS1 | Sarah Leigh Classified gene: HPS1 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Likely inborn error of metabolism - targeted testing not possible v1.151 | HPS1 |
Sarah Leigh Added comment: Comment on list classification: This gene was part of an initial gene list collated by Emma Ashton on behalf of the London North GLH, for GMS Metabolic Consensus Specialist Test Group. Additional information was not provided, such as mode of inheritance and phenotype. Associated with relevant phenotype in OMIM and as confirmed Gen2Phen gene. At least 7 variants reported in at least 5 unrelated cases. |
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| Likely inborn error of metabolism - targeted testing not possible v1.151 | HPS1 | Sarah Leigh Gene: hps1 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Likely inborn error of metabolism - targeted testing not possible v1.47 | HPS1 |
Ivone Leong Source NHS GMS was added to HPS1. Source London North GLH was added to HPS1. |
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| Likely inborn error of metabolism - targeted testing not possible v0.4 | HPS1 |
Ellen McDonagh gene: HPS1 was added gene: HPS1 was added to Inborn errors of metabolism. Sources: Expert Review Amber Mode of inheritance for gene: HPS1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: HPS1 were set to 27604308 Phenotypes for gene: HPS1 were set to Infantile enterocolitis & monogenic inflammatory bowel disease; Hermansky-Pudlak Syndrome (Other lysosomal disorders); Inherited bleeding disorders |
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