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| Cytopenia - NOT Fanconi anaemia v1.57 | RPL9 | Arina Puzriakova Tag for-review was removed from gene: RPL9. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cytopenia - NOT Fanconi anaemia v1.57 | RPL9 | Arina Puzriakova changed review comment from: The rating of this gene has been updated following NHS Genomic Medicine Service approval.; to: The rating of this gene has been updated following NHS Genomic Medicine Service approval. It has been agreed that RPL9 should be amber. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cytopenia - NOT Fanconi anaemia v1.57 | RPL9 | Arina Puzriakova commented on gene: RPL9: The rating of this gene has been updated following NHS Genomic Medicine Service approval. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cytopenia - NOT Fanconi anaemia v1.56 | RPL9 |
Arina Puzriakova Source Expert Review Amber was added to RPL9. Rating Changed from Green List (high evidence) to Amber List (moderate evidence) |
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| Cytopenia - NOT Fanconi anaemia v1.30 | RPL9 | Arina Puzriakova changed review comment from: Comment on list classification: Current Green rating is based on consensus from GLHs, so will remain Green. However, the 'for-review' tag has been added in view of the recent Red review by Zornitza Stark on this Green gene. ; to: Comment on list classification: Current Green rating is based on consensus from GLHs, so will remain Green. Excluding the VUS, only two unrelated cases published with the same variant, but including functional data. The 'for-review' tag has been added in view of this evidence and recent Red review by Zornitza Stark on a Green gene. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cytopenia - NOT Fanconi anaemia v1.30 | RPL9 | Arina Puzriakova Tag for-review tag was added to gene: RPL9. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cytopenia - NOT Fanconi anaemia v1.30 | RPL9 | Arina Puzriakova changed review comment from: Comment on list classification: Current Green rating is based on consensus from GLHs, so will remain Green.; to: Comment on list classification: Current Green rating is based on consensus from GLHs, so will remain Green. However, the 'for-review' tag has been added in view of the recent Red review by Zornitza Stark on this Green gene. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cytopenia - NOT Fanconi anaemia v1.26 | RPL9 | Arina Puzriakova Classified gene: RPL9 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cytopenia - NOT Fanconi anaemia v1.26 | RPL9 | Arina Puzriakova Added comment: Comment on list classification: Current Green rating is based on consensus from GLHs, so will remain Green. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cytopenia - NOT Fanconi anaemia v1.26 | RPL9 | Arina Puzriakova Gene: rpl9 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cytopenia - NOT Fanconi anaemia v1.25 | RPL9 | Arina Puzriakova reviewed gene: RPL9: Rating: ; Mode of pathogenicity: None; Publications: 20116044, 29114930, 31799629; Phenotypes: Diamond Blackfan anaemia; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cytopenia - NOT Fanconi anaemia v1.6 | RPL9 | Zornitza Stark changed review comment from: PMID: 29114930, de novo splice site variant, c.-2+1G>C. Inherited missense variant reported in PMID 20116044, p.Arg125Ser is present in 31 hets in gnomad. PMID 23718193, cannot find RPL9 variant in main results table.; to: PMID: 29114930, de novo splice site variant, c.-2+1G>C, functional impact of this variant is likely deleterious but not proven. Inherited missense variant reported in PMID 20116044, p.Arg125Ser is present in 31 hets in gnomad. PMID 23718193, cannot find RPL9 variant in main results table. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cytopenia - NOT Fanconi anaemia v1.6 | RPL9 | Zornitza Stark edited their review of gene: RPL9: Changed rating: RED | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cytopenia - NOT Fanconi anaemia v1.6 | RPL9 | Zornitza Stark changed review comment from: PMID: 29114930, de novo splice site variant, c.-2+1G>C. Inherited missense variant reported in PMID 20116044, p.Arg125Ser is present in 31 hets in gnomad. ; to: PMID: 29114930, de novo splice site variant, c.-2+1G>C. Inherited missense variant reported in PMID 20116044, p.Arg125Ser is present in 31 hets in gnomad. PMID 23718193, cannot find RPL9 variant in main results table. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cytopenia - NOT Fanconi anaemia v1.6 | RPL9 | Zornitza Stark changed review comment from: PMID: 29114930, de novo splice site variant, c.-2+1G>C.; to: PMID: 29114930, de novo splice site variant, c.-2+1G>C. Inherited missense variant reported in PMID 20116044, p.Arg125Ser is present in 31 hets in gnomad. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cytopenia - NOT Fanconi anaemia v1.6 | RPL9 | Zornitza Stark reviewed gene: RPL9: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: Diamond Blackfan anaemia; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cytopenia - NOT Fanconi anaemia v0.95 | RPL9 | Louise Daugherty Classified gene: RPL9 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cytopenia - NOT Fanconi anaemia v0.95 | RPL9 | 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 v0.95 | RPL9 | Louise Daugherty Gene: rpl9 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cytopenia - NOT Fanconi anaemia v0.53 | RPL9 | Louise Daugherty Source London South GLH was added to RPL9. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cytopenia - NOT Fanconi anaemia v0.52 | RPL9 | Louise Daugherty commented on gene: RPL9: 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 | RPL9 | Frances Smith reviewed gene: RPL9: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cytopenia - NOT Fanconi anaemia v0.42 | RPL9 | Louise Daugherty Publications for gene: RPL9 were set to 23718193; 20116044 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cytopenia - NOT Fanconi anaemia v0.6 | RPL9 | Louise Daugherty reviewed gene: RPL9: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cytopenia - NOT Fanconi anaemia v0.5 | RPL9 | Carl Fratter reviewed gene: RPL9: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ; Current diagnostic: yes | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cytopenia - NOT Fanconi anaemia v0.4 | RPL9 | Louise Daugherty Source NHS GMS was added to RPL9. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cytopenia - NOT Fanconi anaemia v0.3 | RPL9 |
Louise Daugherty Source Expert Review Green was added to RPL9. Mode of inheritance for gene RPL9 was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Added phenotypes Diamond-Blackfan anemia for gene: RPL9 Publications for gene RPL9 were changed from to 23718193; 20116044 Rating Changed from Red List (low evidence) to Green List (high evidence) |
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| Cytopenia - NOT Fanconi anaemia v0.2 | RPL9 |
Louise Daugherty gene: RPL9 was added gene: RPL9 was added to Cytopenia - NOT Fanconi anaemia. Sources: Wessex and West Midlands GLH Mode of inheritance for gene: RPL9 was set to |
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