Cytopenias and congenital anaemias
Gene: SPTA1EnsemblGeneIds (GRCh38): ENSG00000163554
EnsemblGeneIds (GRCh37): ENSG00000163554
OMIM: 182860, Gene2Phenotype
SPTA1 is in 3 panels
2 reviews
Louise Daugherty (Genomics England Curator)
Comment on list classification: Changed status from Red to Green due to evidence in the literatureCreated: 3 Mar 2017, 7:55 p.m.
Comment on publications: Elliptocytosis-2: PMID:2567189 (5 unrelated families), 1353056 (1affected), 3597773, 2794061
Pyropoikilocytosis : PMID: 1541680, 8226774,16150946
Spherocytosis, type 3 : PMID:3785322, 8941647Created: 3 Mar 2017, 7:55 p.m.
Comment on phenotypes: added MIM ids. Phenotypes listed fit with the panel eligibility as they all affect the membrane abnormality which leads to a form of hemolytic anemiaCreated: 3 Mar 2017, 7:37 p.m.
BRIDGE consortium (NIHRBR-RD)
Mode of inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes
RBC membrane abnormality; Elliptocytosis (MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown); Pyropoikilocytosis (BIALLELIC, autosomal or pseudoautosomal); Spherocytosis (BIALLELIC, autosomal or pseudoautosomal)
Variants in this GENE are reported as part of current diagnostic practice
Details
- Mode of Inheritance
- BOTH monoallelic and biallelic, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- Radboud University Medical Center, Nijmegen
- Illumina TruGenome Clinical Sequencing Services
- BRIDGE consortium (NIHRBR-RD)
- 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
- OMIM
- 182860
- Clinvar variants
- Variants in SPTA1
- Penetrance
- Complete
- Publications
- Panels with this gene
History Filter Activity
panel promoted to version 1
Arianna Tucci (Genomics England Curator)Promoted to V1 on 11 March 2017, after internal review and discussion with the clinical team.
Gene classified by Genomics England curator
Louise Daugherty (Genomics England Curator)This gene has been classified as Green List (High Evidence).
Gene classified by Genomics England curator
Louise Daugherty (Genomics England Curator)This gene has been classified as Green List (High Evidence).
Set publications
Louise Daugherty (Genomics England Curator)Publications for SPTA1 were set to 2567189; 1353056; 2794061; 3597773; 1541680; 8226774; 16150946; 3785322; 8941647
Set publications
Louise Daugherty (Genomics England Curator)Publications for SPTA1 were set to 2567189;1353056;2794061;3597773;1541680;8226774;16150946;3785322;8941647;270970
Upload gene information
Louise Daugherty (Genomics England Curator)SPTA1 was added to Cytopaenias and congenital anaemiaspanel. Sources: Radboud University Medical Center, Nijmegen,Illumina TruGenome Clinical Sequencing Services
Set Phenotypes
Louise Daugherty (Genomics England Curator)Phenotypes for SPTA1 were set to 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
Added New Source
Louise Daugherty (Genomics England Curator)SPTA1 was added to Cytopaenias and congenital anaemiaspanel. Sources: BRIDGE consortium (NIHRBR-RD)
Created
Louise Daugherty (Genomics England Curator)SPTA1 was created by LouiseD