Rare anaemia
Gene: SPTB
Gene rating submitted 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.Created: 18 Feb 2019, 2:24 p.m.
Mode of inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes
RBC membrane abnormality; Elliptocytosis; Spherocytosis,616649; Anemia, neonatal hemolytic, fatal and near-fatal
Gene rating submitted 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.Created: 14 Feb 2019, 4:04 p.m.
Mode of inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes
616649 Anemia, neonatal hemolytic, fatal and near-fatal
Gene rating submitted by Frances Smith Viapath Kings College Hospital February 2019 on behalf of London South GLH for the GMS Haematology specialist test group.Created: 8 Feb 2019, 3:46 p.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
616649 Spherocytosis, type 2; 617948 Elliptocytosis-3
Publications
Variants in this GENE are reported as part of current diagnostic practice
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: SPTB; 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;Spherocytosis,616649;Anemia, neonatal hemolytic, fatal and near-fatal; PMID(s): none submittedCreated: 18 Feb 2019, 2:28 p.m.
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: SPTB; 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: 616649 Anemia, neonatal hemolytic, fatal and near-fatal; PMID(s): none submittedCreated: 14 Feb 2019, 4:05 p.m.
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: SPTB; 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: 616649 Spherocytosis, type 2;617948 Elliptocytosis-3; PMID(s): 8226774; 3276733Created: 8 Feb 2019, 3:49 p.m.
Initial gene list (Consensus Genes for Panels 17.12.18_Haem_WWMGLH_v3.xlxs) collated by Carl Fratter Oxford Medical Genetics Laboratories January 2019 on behalf of Wessex and the West Midlands GLH for the GMS Haematology specialist test group. Gene Symbol submitted: SPTB; 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: RBC membrane abnormality;Elliptocytosis;Spherocytosis,616649;Anemia, neonatal hemolytic, fatal and near-fatal; PMID(s): 27906107,11703334,8102379, 27906107,11703334,19538529, 2056132, 1391962, 9163587Created: 6 Feb 2019, 12:14 p.m.
Gene rating submitted by Carl Fratter Oxford Medical Genetics Laboratories January 2019 on behalf of Wessex and the West Midlands GLH for the GMS Haematology specialist test group.Created: 6 Feb 2019, 12:13 p.m.
Variants in this GENE are reported as part of current diagnostic practice
Added phenotypes Elliptocytosis; Anemia, neonatal hemolytic, fatal and near-fatal; Spherocytosis,616649; RBC membrane abnormality for gene: SPTB
Source North West GLH was added to SPTB.
Added phenotypes 616649 Anemia, neonatal hemolytic, fatal and near-fatal for gene: SPTB
Source Yorkshire and North East GLH was added to SPTB.
Added phenotypes 617948 Elliptocytosis-3; 616649 Spherocytosis, type 2 for gene: SPTB Publications for gene SPTB were changed from 27906107,11703334,8102379, 27906107,11703334,19538529, 2056132, 1391962, 9163587 to 3276733; 8226774
Source London South GLH was added to SPTB.
Source NHS GMS was added to SPTB.
Source Expert Review Green was added to SPTB. Mode of inheritance for gene SPTB was changed from to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Added phenotypes Elliptocytosis; Anemia, neonatal hemolytic, fatal and near-fatal; Spherocytosis,616649; RBC membrane abnormality for gene: SPTB Publications for gene SPTB were changed from to 27906107,11703334,8102379, 27906107,11703334,19538529, 2056132, 1391962, 9163587 Rating Changed from Red List (low evidence) to Green List (high evidence)
gene: SPTB was added gene: SPTB was added to Rare anaemia. Sources: Wessex and West Midlands GLH Mode of inheritance for gene: SPTB was set to