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| Cytopenia - NOT Fanconi anaemia v3.24 | SMARCAL1 | Arina Puzriakova Phenotypes for gene: SMARCAL1 were changed from Schimke immunoosseous dysplasia, 242900 to Schimke immunoosseous dysplasia, OMIM:242900 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cytopenia - NOT Fanconi anaemia v0.135 | SMARCAL1 | Louise Daugherty edited their review of gene: SMARCAL1: Added comment: 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 agree to rate this gene Red on this panel. Additional comments from Haematology Specialist Test Group (Copy of Extra genes R91_consensus_v2.xlsx) 21st October 2019. Wessex and West Midlands GLH: Multisystem disorder, skeletal defects seem to be consistently present, has not been associated with a cytopenia as presenting symptom; North West GLH:Syndromic, not isolated thrombocytopenia; Yorkshire and North East GLH:no comment submitted; London South GLH: no comment submitted; Changed rating: RED | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cytopenia - NOT Fanconi anaemia v0.134 | SMARCAL1 | Louise Daugherty Source Expert review Red was added to SMARCAL1. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cytopenia - NOT Fanconi anaemia v0.132 | SMARCAL1 |
Louise Daugherty Source Wessex and West Midlands GLH was added to SMARCAL1. Source Yorkshire and North East GLH was added to SMARCAL1. Source North West GLH was added to SMARCAL1. |
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| Cytopenia - NOT Fanconi anaemia v0.129 | SMARCAL1 | Louise Daugherty Phenotypes for gene: SMARCAL1 were changed from 242900 Schimke immunoosseous dysplasia to Schimke immunoosseous dysplasia, 242900 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cytopenia - NOT Fanconi anaemia v0.116 | SMARCAL1 | Louise Daugherty Classified gene: SMARCAL1 as Red List (low evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cytopenia - NOT Fanconi anaemia v0.116 | SMARCAL1 | 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 syndromic | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cytopenia - NOT Fanconi anaemia v0.116 | SMARCAL1 | Louise Daugherty Gene: smarcal1 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cytopenia - NOT Fanconi anaemia v0.13 | SMARCAL1 |
Louise Daugherty Source Expert Review Green was added to SMARCAL1. Rating Changed from Red List (low evidence) to Green List (high evidence) |
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| Cytopenia - NOT Fanconi anaemia v0.12 | SMARCAL1 |
Louise Daugherty Mode of inheritance for gene SMARCAL1 was changed from to BIALLELIC, autosomal or pseudoautosomal Added phenotypes 242900 Schimke immunoosseous dysplasia for gene: SMARCAL1 |
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| Cytopenia - NOT Fanconi anaemia v0.11 | SMARCAL1 | Louise Daugherty reviewed gene: SMARCAL1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cytopenia - NOT Fanconi anaemia v0.10 | SMARCAL1 | Frances Smith reviewed gene: SMARCAL1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: 242900 Schimke immunoosseous dysplasia; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cytopenia - NOT Fanconi anaemia v0.9 | SMARCAL1 |
Louise Daugherty Added phenotypes 242900 Schimke immunoosseous dysplasia for gene: SMARCAL1 Publications for gene SMARCAL1 were changed from to 17089404 |
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| Cytopenia - NOT Fanconi anaemia v0.8 | SMARCAL1 | Louise Daugherty Source NHS GMS was added to SMARCAL1. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cytopenia - NOT Fanconi anaemia v0.7 | SMARCAL1 |
Louise Daugherty gene: SMARCAL1 was added gene: SMARCAL1 was added to Cytopenia - NOT Fanconi anaemia. Sources: London South GLH Mode of inheritance for gene: SMARCAL1 was set to |
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