| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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| Rare anaemia v1.16 | CDAN1 | Arina Puzriakova Publications for gene: CDAN1 were set to 16098079; 12434312 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Rare anaemia v1.15 | CDAN1 | Arina Puzriakova Phenotypes for gene: CDAN1 were changed from 224120 Dyserythropoietic anemia, congenital, type Ia; Dyserythropoietic anemia, congenital, type Ia, 224120; 224120 Congenital dyserythropoietic anaemia type 1a to Dyserythropoietic anemia, congenital, type Ia, OMIM:224120; Anemia, congenital dyserythropoietic, type 1a, MONDO:0009135 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Rare anaemia v1.4 | CDAN1 | Arina Puzriakova reviewed gene: CDAN1: Rating: GREEN; Mode of pathogenicity: None; Publications: 32518175; Phenotypes: Dyserythropoietic anemia, congenital, type Ia, 224120; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Rare anaemia v0.28 | CDAN1 | Louise Daugherty commented on gene: CDAN1: 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: CDAN1; 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: Dyserythropoietic anemia, congenital, type Ia 224120; PMID(s): none submitted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Rare anaemia v0.27 | CDAN1 | Steve Keeney reviewed gene: CDAN1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Dyserythropoietic anemia, congenital, type Ia, 224120; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Rare anaemia v0.26 | CDAN1 | Louise Daugherty Added phenotypes Dyserythropoietic anemia, congenital, type Ia, 224120 for gene: CDAN1 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Rare anaemia v0.22 | CDAN1 | Louise Daugherty Source North West GLH was added to CDAN1. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Rare anaemia v0.17 | CDAN1 | Louise Daugherty commented on gene: CDAN1: 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: CDAN1; Suggested intial 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: 224120 Dyserythropoietic anemia, congenital, type Ia; PMID(s): none submitted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Rare anaemia v0.16 | CDAN1 | Mandy nesbitt reviewed gene: CDAN1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: 224120 Dyserythropoietic anemia, congenital, type Ia; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Rare anaemia v0.15 | CDAN1 | Louise Daugherty Added phenotypes 224120 Dyserythropoietic anemia, congenital, type Ia for gene: CDAN1 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Rare anaemia v0.13 | CDAN1 | Louise Daugherty Source Yorkshire and North East GLH was added to CDAN1. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Rare anaemia v0.11 | CDAN1 | Louise Daugherty commented on gene: CDAN1: 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: CDAN1; 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: 224120 Congenital dyserythropoietic anaemia type 1a; PMID(s): 12434312; 16098079 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Rare anaemia v0.10 | CDAN1 | Frances Smith reviewed gene: CDAN1: Rating: GREEN; Mode of pathogenicity: ; Publications: 12434312, 16098079; Phenotypes: 224120 Congenital dyserythropoietic anaemia type 1a; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Rare anaemia v0.9 | CDAN1 |
Louise Daugherty Added phenotypes 224120 Congenital dyserythropoietic anaemia type 1a for gene: CDAN1 Publications for gene CDAN1 were changed from 12434312 to 16098079; 12434312 |
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| Rare anaemia v0.7 | CDAN1 | Louise Daugherty Source London South GLH was added to CDAN1. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Rare anaemia v0.6 | CDAN1 | Louise Daugherty reviewed gene: CDAN1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Rare anaemia v0.5 | CDAN1 | Carl Fratter reviewed gene: CDAN1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ; Current diagnostic: yes | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Rare anaemia v0.4 | CDAN1 | Louise Daugherty Source NHS GMS was added to CDAN1. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Rare anaemia v0.3 | CDAN1 |
Louise Daugherty Source Expert Review Green was added to CDAN1. Mode of inheritance for gene CDAN1 was changed from to BIALLELIC, autosomal or pseudoautosomal Added phenotypes Dyserythropoietic anemia, congenital, type Ia, 224120 for gene: CDAN1 Publications for gene CDAN1 were changed from to 12434312 Rating Changed from Red List (low evidence) to Green List (high evidence) |
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| Rare anaemia v0.2 | CDAN1 |
Louise Daugherty gene: CDAN1 was added gene: CDAN1 was added to Rare anaemia. Sources: Wessex and West Midlands GLH Mode of inheritance for gene: CDAN1 was set to |
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