Genes in panel
STRs in panel
Prev Next
Regions in panel
Prev Next

Cytopenias and congenital anaemias

Gene: SPTA1

Green List (high evidence)

SPTA1 (spectrin alpha, erythrocytic 1)
EnsemblGeneIds (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 literature
Created: 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, 8941647
Created: 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 anemia
Created: 3 Mar 2017, 7:37 p.m.

BRIDGE consortium (NIHRBR-RD)

Green List (high evidence)

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

11 Mar 2017, Gel status: 4

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.

3 Mar 2017, Gel status: 4

Gene classified by Genomics England curator

Louise Daugherty (Genomics England Curator)

This gene has been classified as Green List (High Evidence).

3 Mar 2017, Gel status: 4

Gene classified by Genomics England curator

Louise Daugherty (Genomics England Curator)

This gene has been classified as Green List (High Evidence).

3 Mar 2017, Gel status: 2

Set publications

Louise Daugherty (Genomics England Curator)

Publications for SPTA1 were set to 2567189; 1353056; 2794061; 3597773; 1541680; 8226774; 16150946; 3785322; 8941647

3 Mar 2017, Gel status: 2

Set publications

Louise Daugherty (Genomics England Curator)

Publications for SPTA1 were set to 2567189;1353056;2794061;3597773;1541680;8226774;16150946;3785322;8941647;270970

3 Mar 2017, Gel status: 2

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

3 Mar 2017, Gel status: 0

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

17 Feb 2017, Gel status: 0

Added New Source

Louise Daugherty (Genomics England Curator)

SPTA1 was added to Cytopaenias and congenital anaemiaspanel. Sources: BRIDGE consortium (NIHRBR-RD)

17 Feb 2017, Gel status: 0

Created

Louise Daugherty (Genomics England Curator)

SPTA1 was created by LouiseD