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| Cytopenia - NOT Fanconi anaemia v0.69 | TERC | Louise Daugherty Classified gene: TERC as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cytopenia - NOT Fanconi anaemia v0.69 | TERC | Louise Daugherty Added comment: Comment on list classification: Upgraded from Amber to Green. As discussed with the GMS Haematology Specialist Test Group at workshop 2nd July 2019. All agreed that there is enough evidence to rate this gene Green. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cytopenia - NOT Fanconi anaemia v0.69 | TERC | Louise Daugherty Gene: terc has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cytopenia - NOT Fanconi anaemia v0.68 | TERC | Louise Daugherty changed review comment from: RBM8A: Discrepant reviews for TERC. Rated as Amber WWMGLH - Green rating LSGLH, YNEGLH, NWGLH. To be discussed at July workshop to agree rating; to: Discrepant reviews for TERC. Rated as Amber WWMGLH - Green rating LSGLH, YNEGLH, NWGLH. To be discussed at July workshop to agree rating | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cytopenia - NOT Fanconi anaemia v0.68 | TERC | Louise Daugherty commented on gene: TERC: RBM8A: Discrepant reviews for TERC. Rated as Amber WWMGLH - Green rating LSGLH, YNEGLH, NWGLH. To be discussed at July workshop to agree rating | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cytopenia - NOT Fanconi anaemia v0.31 | TERC | Louise Daugherty commented on gene: TERC: Initial gene list (Consensus Genes for SPEC HAEM Panels 31.01.19 North West v1 FINAL.xlsx) collated by Steve Keeney Molecular Diagnostics Centre Central Manchester NHS Foundation Trust January 2019 on behalf of North West GLH for the GMS Haematology specialist test group. Gene Symbol submitted: TERC; Suggested initial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? No; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown; Phenotypes: Inherited Bone Marrow Failure Syndromes;Inherited Bone Marrow Failure Syndromes - Aplastic Anaemia; Telomere_Related Pulmonary Fibrosis And/Or Bone Marrow Failure_2;Dyskeratosis congenita;Dyskeratosis Congenita, Autosomal Dominant, 1; Telomere_Related Pulmonary Fibrosis And/Or Bone Marrow Failure_1;DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT, 1; PMID(s): none submitted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cytopenia - NOT Fanconi anaemia v0.30 | TERC | Steve Keeney reviewed gene: TERC: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Inherited Bone Marrow Failure Syndromes, Inherited Bone Marrow Failure Syndromes - Aplastic Anaemia, Telomere_Related Pulmonary Fibrosis And/Or Bone Marrow Failure_2, Dyskeratosis congenita, Dyskeratosis Congenita, Autosomal Dominant, 1, Telomere_Related Pulmonary Fibrosis And/Or Bone Marrow Failure_1, DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT, 1; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cytopenia - NOT Fanconi anaemia v0.29 | TERC | Louise Daugherty Added phenotypes Inherited Bone Marrow Failure Syndromes - Aplastic Anaemia; Telomere_Related Pulmonary Fibrosis And/Or Bone Marrow Failure_1; Telomere_Related Pulmonary Fibrosis And/Or Bone Marrow Failure_2; DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT, 1; Dyskeratosis congenita; Dyskeratosis Congenita, Autosomal Dominant, 1; Inherited Bone Marrow Failure Syndromes for gene: TERC | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cytopenia - NOT Fanconi anaemia v0.27 | TERC | Louise Daugherty Source North West GLH was added to TERC. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cytopenia - NOT Fanconi anaemia v0.18 | TERC | Louise Daugherty commented on gene: TERC: Initial gene list (Consensus Genes for Panels_Haem_SHEFFIELD-29.01.2019.xlsx) collated by Mandy Nesbitt Sheffield Diagnostic Genetics Service, Sheffield Children's NHS Trust January 2019 on behalf of Yorkshire and North East GLH for the GMS Haematology specialist test group. Gene Symbol submitted: TERC; Suggested initial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? Yes; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Phenotypes: 614743 pulmonary fibrosis and/or bone marrow failure; 129550 Dyskeratosis congenita, autosomal dominant 1; PMID(s): none submitted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cytopenia - NOT Fanconi anaemia v0.17 | TERC | Mandy nesbitt reviewed gene: TERC: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: 614743 pulmonary fibrosis and/or bone marrow failure, 129550 Dyskeratosis congenita, autosomal dominant 1; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cytopenia - NOT Fanconi anaemia v0.16 | TERC | Louise Daugherty Added phenotypes 614743 pulmonary fibrosis and/or bone marrow failure; 129550 Dyskeratosis congenita, autosomal dominant 1 for gene: TERC | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cytopenia - NOT Fanconi anaemia v0.14 | TERC | Louise Daugherty Source Yorkshire and North East GLH was added to TERC. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cytopenia - NOT Fanconi anaemia v0.11 | TERC | Louise Daugherty commented on gene: TERC: Initial gene list (Consensus Genes for Haem Panels 17.12.18_KCH.xlsx) collated by Frances Smith Viapath Kings College Hospital February 2019 on behalf of London South GLH for the GMS Haematology specialist test group. Gene Symbol submitted: TERC; Suggested intial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? Yes; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Phenotypes: 127550 Dyskeratosis congenita, autosomal dominant 1; PMID(s): 11574891; 12090986 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cytopenia - NOT Fanconi anaemia v0.10 | TERC | Frances Smith reviewed gene: TERC: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: 127550 Dyskeratosis congenita, autosomal dominant 1; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cytopenia - NOT Fanconi anaemia v0.9 | TERC |
Louise Daugherty Added phenotypes 127550 Dyskeratosis congenita, autosomal dominant 1 for gene: TERC Publications for gene TERC were changed from to 11574891; 12090986 |
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| Cytopenia - NOT Fanconi anaemia v0.7 | TERC | Louise Daugherty Source London South GLH was added to TERC. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cytopenia - NOT Fanconi anaemia v0.6 | TERC | Louise Daugherty reviewed gene: TERC: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cytopenia - NOT Fanconi anaemia v0.5 | TERC | Carl Fratter reviewed gene: TERC: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ; Current diagnostic: yes | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cytopenia - NOT Fanconi anaemia v0.4 | TERC | Louise Daugherty Source NHS GMS was added to TERC. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cytopenia - NOT Fanconi anaemia v0.3 | TERC |
Louise Daugherty Source Expert Review Amber was added to TERC. Mode of inheritance for gene TERC was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Added phenotypes Inherited Bone Marrow Failure Syndromes - Aplastic Anaemia; Telomere_Related Pulmonary Fibrosis And/Or Bone Marrow Failure_1; Telomere_Related Pulmonary Fibrosis And/Or Bone Marrow Failure_2; DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT, 1; Dyskeratosis congenita; Dyskeratosis Congenita, Autosomal Dominant, 1; Inherited Bone Marrow Failure Syndromes for gene: TERC Rating Changed from Red List (low evidence) to Amber List (moderate evidence) |
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| Cytopenia - NOT Fanconi anaemia v0.2 | TERC |
Louise Daugherty gene: TERC was added gene: TERC was added to Cytopenia - NOT Fanconi anaemia. Sources: Wessex and West Midlands GLH Mode of inheritance for gene: TERC was set to |
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