| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Rare anaemia v0.28 | SPTA1 | Louise Daugherty commented on gene: SPTA1: 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: SPTA1; Suggested initial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? No; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal; Phenotypes: RBC membrane abnormality;Elliptocytosis-2 (MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown), 130600;Pyropoikilocytosis (BIALLELIC, autosomal or pseudoautosomal), 266140;Spherocytosis, type 3 (BIALLELIC, autosomal or pseudoautosomal), 270970; PMID(s): none submitted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Rare anaemia v0.27 | SPTA1 | Steve Keeney reviewed gene: SPTA1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: RBC membrane abnormality, Elliptocytosis-2 (MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown), 130600, Pyropoikilocytosis (BIALLELIC, autosomal or pseudoautosomal), 266140, Spherocytosis, type 3 (BIALLELIC, autosomal or pseudoautosomal), 270970; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Rare anaemia v0.26 | SPTA1 | Louise Daugherty Added phenotypes Pyropoikilocytosis (BIALLELIC, autosomal or pseudoautosomal), 266140; Spherocytosis, type 3 (BIALLELIC, autosomal or pseudoautosomal), 270970; Elliptocytosis-2 (MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown), 130600; RBC membrane abnormality for gene: SPTA1 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Rare anaemia v0.22 | SPTA1 | Louise Daugherty Source North West GLH was added to SPTA1. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Rare anaemia v0.17 | SPTA1 | Louise Daugherty commented on gene: SPTA1: 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: SPTA1; Suggested intial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? No; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal; Phenotypes: 266140 Pyropoikilocytosis; 270970 Spherocytosis, type 3; PMID(s): none submitted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Rare anaemia v0.16 | SPTA1 | Mandy nesbitt reviewed gene: SPTA1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: 266140 Pyropoikilocytosis, 270970 Spherocytosis, type 3; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Rare anaemia v0.15 | SPTA1 | Louise Daugherty Added phenotypes 266140 Pyropoikilocytosis; 270970 Spherocytosis, type 3 for gene: SPTA1 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Rare anaemia v0.13 | SPTA1 | Louise Daugherty Source Yorkshire and North East GLH was added to SPTA1. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Rare anaemia v0.11 | SPTA1 | Louise Daugherty commented on gene: SPTA1: 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: SPTA1; Suggested intial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? Yes; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal; Phenotypes: 130600 Elliptocytosis-2; 266140 Pyropoikilocytosis, 270970 Spherocytosis, type 3; PMID(s): 4077050; 3940543; 1679439 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Rare anaemia v0.10 | SPTA1 | Frances Smith reviewed gene: SPTA1: Rating: GREEN; Mode of pathogenicity: ; Publications: 4077050, 3940543, 1679439; Phenotypes: 130600 Elliptocytosis-2, 266140 Pyropoikilocytosis, 270970 Spherocytosis, type 3; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal; Current diagnostic: yes | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Rare anaemia v0.9 | SPTA1 |
Louise Daugherty Added phenotypes 266140 Pyropoikilocytosis, 270970 Spherocytosis, type 3; 130600 Elliptocytosis-2 for gene: SPTA1 Publications for gene SPTA1 were changed from 2794061; 3597773; 16150946; 8226774; 3785322; 1353056; 2567189; 8941647; 1541680 to 3940543; 4077050; 1679439 |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Rare anaemia v0.7 | SPTA1 | Louise Daugherty Source London South GLH was added to SPTA1. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Rare anaemia v0.6 | SPTA1 | Louise Daugherty reviewed gene: SPTA1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Rare anaemia v0.5 | SPTA1 | Carl Fratter reviewed gene: SPTA1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ; Current diagnostic: yes | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Rare anaemia v0.4 | SPTA1 | Louise Daugherty Source NHS GMS was added to SPTA1. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Rare anaemia v0.3 | SPTA1 |
Louise Daugherty Source Expert Review Green was added to SPTA1. Mode of inheritance for gene SPTA1 was changed from to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Added phenotypes Pyropoikilocytosis (BIALLELIC, autosomal or pseudoautosomal), 266140; Spherocytosis, type 3 (BIALLELIC, autosomal or pseudoautosomal), 270970; Elliptocytosis-2 (MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown), 130600; RBC membrane abnormality for gene: SPTA1 Publications for gene SPTA1 were changed from to 2794061; 3597773; 16150946; 8226774; 3785322; 1353056; 2567189; 8941647; 1541680 Rating Changed from Red List (low evidence) to Green List (high evidence) |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Rare anaemia v0.2 | SPTA1 |
Louise Daugherty gene: SPTA1 was added gene: SPTA1 was added to Rare anaemia. Sources: Wessex and West Midlands GLH Mode of inheritance for gene: SPTA1 was set to |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||