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| Cytopenia - NOT Fanconi anaemia v1.57 | RPL26 | Arina Puzriakova Tag for-review was removed from gene: RPL26. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cytopenia - NOT Fanconi anaemia v1.57 | RPL26 | Arina Puzriakova commented on gene: RPL26: The rating of this gene has been updated following NHS Genomic Medicine Service approval. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cytopenia - NOT Fanconi anaemia v1.56 | RPL26 |
Arina Puzriakova Source Expert Review Red was added to RPL26. Rating Changed from Green List (high evidence) to Red List (low evidence) |
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| Cytopenia - NOT Fanconi anaemia v1.25 | RPL26 | Arina Puzriakova changed review comment from: To date, only a single individual has been reported with Diamond-Blackfan anemia due to a de novo 2-nucleotide deletion in RPL26. Includes some in vitro functional data indicating the variants impairs RPL26 function in ribosome biogenesis (PMID: 22431104); to: To date, only a single individual has been reported with Diamond-Blackfan anemia due to a de novo 2-nucleotide deletion in RPL26. Includes some in vitro functional data indicating the variant impairs RPL26 function in ribosome biogenesis (PMID: 22431104) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cytopenia - NOT Fanconi anaemia v1.25 | RPL26 | Arina Puzriakova Tag for-review tag was added to gene: RPL26. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cytopenia - NOT Fanconi anaemia v1.25 | RPL26 | Arina Puzriakova Classified gene: RPL26 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cytopenia - NOT Fanconi anaemia v1.25 | RPL26 | Arina Puzriakova Added comment: Comment on list classification: Current Green rating is based on consensus from GLHs, so will remain Green. However, this gene will be flagged for review at the date of next GMS panel update (added 'for-review' tag). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cytopenia - NOT Fanconi anaemia v1.25 | RPL26 | Arina Puzriakova Gene: rpl26 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cytopenia - NOT Fanconi anaemia v1.24 | RPL26 | Arina Puzriakova reviewed gene: RPL26: Rating: ; Mode of pathogenicity: None; Publications: 22431104; Phenotypes: Diamond-Blackfan anemia 11, 614900; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cytopenia - NOT Fanconi anaemia v1.6 | RPL26 | Zornitza Stark reviewed gene: RPL26: Rating: RED; Mode of pathogenicity: None; Publications: 22431104; Phenotypes: Diamond-Blackfan anemia 11, MIM# 614900; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cytopenia - NOT Fanconi anaemia v0.89 | RPL26 | Louise Daugherty Classified gene: RPL26 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cytopenia - NOT Fanconi anaemia v0.89 | RPL26 | 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 in this panel and there is enough evidence to rate this gene Green. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cytopenia - NOT Fanconi anaemia v0.89 | RPL26 | Louise Daugherty Gene: rpl26 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cytopenia - NOT Fanconi anaemia v0.53 | RPL26 | Louise Daugherty Source London South GLH was added to RPL26. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cytopenia - NOT Fanconi anaemia v0.52 | RPL26 | Louise Daugherty commented on gene: RPL26: New review/rating by Frances Smith, Viapath Kings College Hospital (Curation_Template_GMS_Haem_FS_updated_reviews_20190425.xlsx) on behalf of London South GLH for the GMS Haematology specialist test group. Gene rated as Green. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cytopenia - NOT Fanconi anaemia v0.51 | RPL26 | Frances Smith reviewed gene: RPL26: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cytopenia - NOT Fanconi anaemia v0.50 | RPL26 | Louise Daugherty Phenotypes for gene: RPL26 were changed from ?Diamond-Blackfan anemia 11,614900 to ?Diamond-Blackfan anemia 11, 614900 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cytopenia - NOT Fanconi anaemia v0.6 | RPL26 | Louise Daugherty reviewed gene: RPL26: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cytopenia - NOT Fanconi anaemia v0.5 | RPL26 | Carl Fratter reviewed gene: RPL26: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ; Current diagnostic: yes | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cytopenia - NOT Fanconi anaemia v0.4 | RPL26 | Louise Daugherty Source NHS GMS was added to RPL26. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cytopenia - NOT Fanconi anaemia v0.3 | RPL26 |
Louise Daugherty Source Expert Review Green was added to RPL26. Mode of inheritance for gene RPL26 was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Added phenotypes ?Diamond-Blackfan anemia 11,614900 for gene: RPL26 Rating Changed from Red List (low evidence) to Green List (high evidence) |
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| Cytopenia - NOT Fanconi anaemia v0.2 | RPL26 |
Louise Daugherty gene: RPL26 was added gene: RPL26 was added to Cytopenia - NOT Fanconi anaemia. Sources: Wessex and West Midlands GLH Mode of inheritance for gene: RPL26 was set to |
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