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| Cytopenia - NOT Fanconi anaemia v0.136 | STIM1 |
Louise Daugherty Source Expert Review Amber was added to STIM1. Rating Changed from Red List (low evidence) to Amber List (moderate evidence) |
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| Cytopenia - NOT Fanconi anaemia v0.135 | STIM1 | Louise Daugherty commented on gene: STIM1: Gene reviewed due to Haematology Specialist Test Group considering the inclusion of relevant neutropenia thrombocytopenia genes. The Specialist Test Group 21st October 2019 (consisting of 4 centres: WWMGLH, NWGLH, YNEGLH, LSGLH) all agreed that there was only enough evidence to rate this gene Amber. Additional comments from Haematology Specialist Test Group (Copy of Extra genes R91_consensus_v2.xlsx) 21st October 2019. Wessex and West Midlands GLH: Stormorken syndrome (York platelet syndrome); North West GLH: Syndromic, not isolated thrombocytopenia; Yorkshire and North East GLH: no commetn submitted; London South GLH: no comment submitted. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cytopenia - NOT Fanconi anaemia v0.134 | STIM1 | Louise Daugherty Source Expert review Amber was added to STIM1. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cytopenia - NOT Fanconi anaemia v0.132 | STIM1 |
Louise Daugherty Source Wessex and West Midlands GLH was added to STIM1. Source Yorkshire and North East GLH was added to STIM1. Source North West GLH was added to STIM1. |
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| Cytopenia - NOT Fanconi anaemia v0.130 | STIM1 | Louise Daugherty Phenotypes for gene: STIM1 were changed from 185070 Stormorken syndrome to Stormorken syndrome, 185070 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cytopenia - NOT Fanconi anaemia v0.117 | STIM1 | Louise Daugherty Classified gene: STIM1 as Red List (low evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cytopenia - NOT Fanconi anaemia v0.117 | STIM1 | Louise Daugherty Added comment: Comment on list classification: As discussed with the GMS Haematology Specialist Test Group at workshop 2nd July 2019. Gene was not submitted by all GLHs so needed further review by all the GLHs. All agreed that this gene should be downgraded from Green to Red. Noted by YNEGLH as being Green on the Bleeding and Platelet disorders panel but should be Red on this panel | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cytopenia - NOT Fanconi anaemia v0.117 | STIM1 | Louise Daugherty Gene: stim1 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cytopenia - NOT Fanconi anaemia v0.13 | STIM1 |
Louise Daugherty Source Expert Review Green was added to STIM1. Rating Changed from Red List (low evidence) to Green List (high evidence) |
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| Cytopenia - NOT Fanconi anaemia v0.12 | STIM1 |
Louise Daugherty Mode of inheritance for gene STIM1 was changed from to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Added phenotypes 185070 Stormorken syndrome for gene: STIM1 |
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| Cytopenia - NOT Fanconi anaemia v0.11 | STIM1 | Louise Daugherty reviewed gene: STIM1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cytopenia - NOT Fanconi anaemia v0.10 | STIM1 | Frances Smith reviewed gene: STIM1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: 185070 Stormorken syndrome; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cytopenia - NOT Fanconi anaemia v0.9 | STIM1 |
Louise Daugherty Added phenotypes 185070 Stormorken syndrome for gene: STIM1 Publications for gene STIM1 were changed from to 25577287 |
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| Cytopenia - NOT Fanconi anaemia v0.8 | STIM1 | Louise Daugherty Source NHS GMS was added to STIM1. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cytopenia - NOT Fanconi anaemia v0.7 | STIM1 |
Louise Daugherty gene: STIM1 was added gene: STIM1 was added to Cytopenia - NOT Fanconi anaemia. Sources: London South GLH Mode of inheritance for gene: STIM1 was set to |
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