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| Multiple monogenic benign skin tumours v1.5 | GLA | Arina Puzriakova Tag curated_removed tag was added to gene: GLA. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Multiple monogenic benign skin tumours v0.12 | PMS2 |
Catherine Snow gene: PMS2 was added gene: PMS2 was added to Multiple monogenic benign skin tumours. Sources: Expert list Mode of inheritance for gene: PMS2 was set to BIALLELIC, autosomal or pseudoautosomal Review for gene: PMS2 was set to AMBER Added comment: PMS2 is associated with Muir Torre. Clinical guidance from the Genomics England clinical team advised that as Muir Torre genes have been included on the panel PMS2 should also be added as a Amber gene. Sources: Expert list |
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| Multiple monogenic benign skin tumours v0.7 | GLA | Rebecca Foulger edited their review of gene: GLA: Added comment: This gene was demoted from Green to Grey as the gene is not present on the shorter revised list subsequently submitted by Thomas Cullup and Veronica Kinsler (London North GLH) on 18.Feb.2019 to more accurately match Clinical Indication R230.; Changed rating: RED | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Multiple monogenic benign skin tumours v0.6 | GLA |
Rebecca Foulger Source Expert Review Removed was added to GLA. Rating Changed from Green List (high evidence) to No List (delete) |
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| Multiple monogenic benign skin tumours v0.5 | GLA | Rebecca Foulger Source London North GLH was added to GLA. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Multiple monogenic benign skin tumours v0.4 | GLA | Rebecca Foulger reviewed gene: GLA: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Multiple monogenic benign skin tumours v0.3 | GLA |
Rebecca Foulger gene: GLA was added gene: GLA was added to Multiple monogenic benign skin tumours. Sources: Expert Review Green,NHS GMS Mode of inheritance for gene: GLA was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Phenotypes for gene: GLA were set to Fabry disease |
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