| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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| Cytopenia - NOT Fanconi anaemia v0.59 | CTC1 | Louise Daugherty Classified gene: CTC1 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cytopenia - NOT Fanconi anaemia v0.59 | CTC1 | Louise Daugherty Added comment: Comment on list classification: 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 v0.59 | CTC1 | Louise Daugherty Gene: ctc1 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cytopenia - NOT Fanconi anaemia v0.58 | CTC1 | Louise Daugherty commented on gene: CTC1: Discrepant reviews for CTC1 : 3 GLH GREEN, 1 GLH AMBER. To be discussed at July workshop to agree rating. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cytopenia - NOT Fanconi anaemia v0.31 | CTC1 | Louise Daugherty commented on gene: CTC1: 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: CTC1; Suggested initial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? No; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Phenotypes: Inherited Bone Marrow Failure Syndromes;Dyskeratosis congenita;Dyskeratosis Congenita, Recessive;Cerebroretinal microangiopathy with calcifications and cysts/CTC1 related Dyskeratosis Congenita; PMID(s): none submitted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cytopenia - NOT Fanconi anaemia v0.30 | CTC1 | Steve Keeney reviewed gene: CTC1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Inherited Bone Marrow Failure Syndromes, Dyskeratosis congenita, Dyskeratosis Congenita, Recessive, Cerebroretinal microangiopathy with calcifications and cysts/CTC1 related Dyskeratosis Congenita; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cytopenia - NOT Fanconi anaemia v0.29 | CTC1 | Louise Daugherty Added phenotypes Cerebroretinal microangiopathy with calcifications and cysts/CTC1 related Dyskeratosis Congenita; Dyskeratosis Congenita, Recessive; Inherited Bone Marrow Failure Syndromes; Dyskeratosis congenita for gene: CTC1 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cytopenia - NOT Fanconi anaemia v0.27 | CTC1 | Louise Daugherty Source North West GLH was added to CTC1. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cytopenia - NOT Fanconi anaemia v0.18 | CTC1 | Louise Daugherty commented on gene: CTC1: 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: CTC1; Suggested initial gene rating: I don't know; Are variants in this gene part of your current diagnostic practice? No; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Phenotypes: N/A Dyskeratosis congenita; PMID(s): none submitted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cytopenia - NOT Fanconi anaemia v0.17 | CTC1 | Mandy nesbitt reviewed gene: CTC1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: Dyskeratosis congenita; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cytopenia - NOT Fanconi anaemia v0.16 | CTC1 | Louise Daugherty Added phenotypes Dyskeratosis congenita for gene: CTC1 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cytopenia - NOT Fanconi anaemia v0.14 | CTC1 | Louise Daugherty Source Yorkshire and North East GLH was added to CTC1. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cytopenia - NOT Fanconi anaemia v0.11 | CTC1 | Louise Daugherty commented on gene: CTC1: 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: CTC1; Suggested intial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? Yes; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Phenotypes: 612199 Coats plus syndrome; PMID(s): 22532422; 22267198; 22387016; 22899577 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cytopenia - NOT Fanconi anaemia v0.10 | CTC1 | Frances Smith reviewed gene: CTC1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: 612199 Coats plus syndrome; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cytopenia - NOT Fanconi anaemia v0.9 | CTC1 |
Louise Daugherty Added phenotypes 612199 Coats plus syndrome for gene: CTC1 Publications for gene CTC1 were changed from 22532422; 22899577 to 22532422; 22899577; 22267198; 22387016 |
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| Cytopenia - NOT Fanconi anaemia v0.7 | CTC1 | Louise Daugherty Source London South GLH was added to CTC1. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cytopenia - NOT Fanconi anaemia v0.6 | CTC1 | Louise Daugherty reviewed gene: CTC1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cytopenia - NOT Fanconi anaemia v0.5 | CTC1 | Carl Fratter reviewed gene: CTC1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cytopenia - NOT Fanconi anaemia v0.4 | CTC1 | Louise Daugherty Source NHS GMS was added to CTC1. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cytopenia - NOT Fanconi anaemia v0.3 | CTC1 |
Louise Daugherty Source Expert Review Green was added to CTC1. Mode of inheritance for gene CTC1 was changed from to BIALLELIC, autosomal or pseudoautosomal Added phenotypes Cerebroretinal microangiopathy with calcifications and cysts/CTC1 related Dyskeratosis Congenita; Dyskeratosis Congenita, Recessive; Inherited Bone Marrow Failure Syndromes; Dyskeratosis congenita for gene: CTC1 Publications for gene CTC1 were changed from to 22532422; 22899577 Rating Changed from Red List (low evidence) to Green List (high evidence) |
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| Cytopenia - NOT Fanconi anaemia v0.2 | CTC1 |
Louise Daugherty gene: CTC1 was added gene: CTC1 was added to Cytopenia - NOT Fanconi anaemia. Sources: Wessex and West Midlands GLH Mode of inheritance for gene: CTC1 was set to |
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