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| Cytopenia - NOT Fanconi anaemia v1.70 | SLC37A4 | Arina Puzriakova Phenotypes for gene: SLC37A4 were changed from Glycogen storage disease Ib, 232220 to Glycogen storage disease Ib, OMIM:232220; Glycogen storage disease Ic, OMIM:232240 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cytopenia - NOT Fanconi anaemia v0.135 | SLC37A4 | Louise Daugherty edited their review of gene: SLC37A4: 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: Glycogen storage disorders - other syndromic features (eg hypoglycaemia and splenomegaly) unlikely to present as neutropenia; North West GLH: Syndromic features, neutropenia, 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 | SLC37A4 | Louise Daugherty Source Expert review Red was added to SLC37A4. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cytopenia - NOT Fanconi anaemia v0.132 | SLC37A4 |
Louise Daugherty Source Wessex and West Midlands GLH was added to SLC37A4. Source Yorkshire and North East GLH was added to SLC37A4. Source North West GLH was added to SLC37A4. |
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| Cytopenia - NOT Fanconi anaemia v0.128 | SLC37A4 | Louise Daugherty Phenotypes for gene: SLC37A4 were changed from 232220 Glycogen storage disease Ib to Glycogen storage disease Ib, 232220 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cytopenia - NOT Fanconi anaemia v0.115 | SLC37A4 | Louise Daugherty Classified gene: SLC37A4 as Red List (low evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cytopenia - NOT Fanconi anaemia v0.115 | SLC37A4 | 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 - other discipline (IEM-GSD) so should be Red on this panel | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cytopenia - NOT Fanconi anaemia v0.115 | SLC37A4 | Louise Daugherty Gene: slc37a4 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cytopenia - NOT Fanconi anaemia v0.13 | SLC37A4 |
Louise Daugherty Source Expert Review Green was added to SLC37A4. Rating Changed from Red List (low evidence) to Green List (high evidence) |
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| Cytopenia - NOT Fanconi anaemia v0.12 | SLC37A4 |
Louise Daugherty Mode of inheritance for gene SLC37A4 was changed from to BIALLELIC, autosomal or pseudoautosomal Added phenotypes 232220 Glycogen storage disease Ib for gene: SLC37A4 |
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| Cytopenia - NOT Fanconi anaemia v0.11 | SLC37A4 | Louise Daugherty reviewed gene: SLC37A4: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cytopenia - NOT Fanconi anaemia v0.10 | SLC37A4 | Frances Smith reviewed gene: SLC37A4: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: 232220 Glycogen storage disease Ib; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cytopenia - NOT Fanconi anaemia v0.9 | SLC37A4 |
Louise Daugherty Added phenotypes 232220 Glycogen storage disease Ib for gene: SLC37A4 Publications for gene SLC37A4 were changed from to 9428641; 9675154 |
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| Cytopenia - NOT Fanconi anaemia v0.8 | SLC37A4 | Louise Daugherty Source NHS GMS was added to SLC37A4. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cytopenia - NOT Fanconi anaemia v0.7 | SLC37A4 |
Louise Daugherty gene: SLC37A4 was added gene: SLC37A4 was added to Cytopenia - NOT Fanconi anaemia. Sources: London South GLH Mode of inheritance for gene: SLC37A4 was set to |
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