| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Rare anaemia v0.28 | SLC4A1 | Louise Daugherty commented on gene: SLC4A1: 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: SLC4A1; 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: Haemolytic Anemia;RBC membrane abnormality;Cryohydrocytosis,185020;Ovalocytosis, SA type, 166900;Spherocytosis, type 4, 612653; PMID(s): none submitted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Rare anaemia v0.27 | SLC4A1 | Steve Keeney reviewed gene: SLC4A1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Haemolytic Anemia, RBC membrane abnormality, Cryohydrocytosis,185020, Ovalocytosis, SA type, 166900, Spherocytosis, type 4, 612653; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Rare anaemia v0.26 | SLC4A1 | Louise Daugherty Added phenotypes Ovalocytosis, SA type, 166900; Spherocytosis, type 4, 612653; RBC membrane abnormality; Cryohydrocytosis,185020; Haemolytic Anemia for gene: SLC4A1 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Rare anaemia v0.22 | SLC4A1 | Louise Daugherty Source North West GLH was added to SLC4A1. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Rare anaemia v0.17 | SLC4A1 | Louise Daugherty commented on gene: SLC4A1: 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: SLC4A1; Suggested intial 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: 612653 Spherocytosis, type 4;166900 Ovalocytosis, SA type; PMID(s): none submitted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Rare anaemia v0.16 | SLC4A1 | Mandy nesbitt reviewed gene: SLC4A1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: 612653 Spherocytosis, type 4, 166900 Ovalocytosis, SA type; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Rare anaemia v0.15 | SLC4A1 | Louise Daugherty Added phenotypes 166900 Ovalocytosis, SA type; 612653 Spherocytosis, type 4 for gene: SLC4A1 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Rare anaemia v0.13 | SLC4A1 | Louise Daugherty Source Yorkshire and North East GLH was added to SLC4A1. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Rare anaemia v0.11 | SLC4A1 | Louise Daugherty commented on gene: SLC4A1: 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: SLC4A1; 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: 166900 Ovalocytosis, SA type, 185020 Cryohydrocytosis;612653 Spherocytosis, type 4; PMID(s): 1722314 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Rare anaemia v0.10 | SLC4A1 | Frances Smith reviewed gene: SLC4A1: Rating: GREEN; Mode of pathogenicity: ; Publications: 1722314; Phenotypes: 166900 Ovalocytosis, SA type, 185020 Cryohydrocytosis, 612653 Spherocytosis, type 4; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Rare anaemia v0.9 | SLC4A1 |
Louise Daugherty Added phenotypes 612653 Spherocytosis, type 4; 166900 Ovalocytosis, SA type, 185020 Cryohydrocytosis for gene: SLC4A1 Publications for gene SLC4A1 were changed from 8608262; 7949112; 8471774; 16227998; 8547122; 2146504; 1722314; 8282779 to 1722314 |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Rare anaemia v0.7 | SLC4A1 | Louise Daugherty Source London South GLH was added to SLC4A1. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Rare anaemia v0.6 | SLC4A1 | Louise Daugherty reviewed gene: SLC4A1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Rare anaemia v0.5 | SLC4A1 | Carl Fratter reviewed gene: SLC4A1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ; Current diagnostic: yes | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Rare anaemia v0.4 | SLC4A1 | Louise Daugherty Source NHS GMS was added to SLC4A1. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Rare anaemia v0.3 | SLC4A1 |
Louise Daugherty Source Expert Review Green was added to SLC4A1. Mode of inheritance for gene SLC4A1 was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Added phenotypes Ovalocytosis, SA type, 166900; Spherocytosis, type 4, 612653; RBC membrane abnormality; Cryohydrocytosis,185020; Haemolytic Anemia for gene: SLC4A1 Publications for gene SLC4A1 were changed from to 8608262; 7949112; 8471774; 16227998; 8547122; 2146504; 1722314; 8282779 Rating Changed from Red List (low evidence) to Green List (high evidence) |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Rare anaemia v0.2 | SLC4A1 |
Louise Daugherty gene: SLC4A1 was added gene: SLC4A1 was added to Rare anaemia. Sources: Wessex and West Midlands GLH Mode of inheritance for gene: SLC4A1 was set to |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||