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Fetal anomalies

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

5 reviews

Sarah Graham (West Midlands Regional Genetics Laboratory, Birmingham Women's and Children’s NHS Foundation Trust)

Green List (high evidence)

This gene and phenotype were reviewed during meetings in June & July 2025. The meetings included representatives of the North Thames and Central & South R21 testing GLHs and from the R21 Clinical Oversight Group. Clinical review and curation was performed by Natalie Chandler & Elizabeth Scotchman (North Thames GLH), Natalie Bibb, Stephanie Allen & Sarah Graham (Central & South GLH) and Alice Gardham, Esther Kinning, Vicki Harrison, Anna DeBurca, Natalie Canham, Elizabeth Wall, Sunayna Best, Soo-Mi Park & Sahar Mansour (R21 Clinical Oversight Group).
Created: 5 Sep 2025, 4:31 p.m. | Last Modified: 5 Sep 2025, 4:31 p.m.
Panel Version: 6.28
Currently red due to limited evidence for link to hydrops. New report PMID 38031483: homozygous c.6154delG with severe fetal anemia and hydrops fetalis. PMID: 30198572 homozygous c.5476C>T with fetal anemia and hydrops, IUD. PMID: 34132406 homozygous c.83G>A (p.Arg28His) with fetal anemia. PMID 31333484 3 cases with homozygous or compound het variants and fetal anemia / hydrops. Heterozygous variants also associated with postnatal erythrocyte disorders but only evidence for biallelic variants being relevant prenatally. SPTB is already green.
Created: 5 Sep 2025, 2:55 p.m. | Last Modified: 5 Sep 2025, 2:55 p.m.
Panel Version: 6.24

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Hereditary pyropoikilocytosis

Publications

Created: 5 Sep 2025, 2:55 p.m.
Last Modified: 5 Sep 2025, 2:55 p.m.
Panel version: 6.28

Achchuthan Shanmugasundram (Genomics England Curator)

Green List (high evidence)

The rating of this gene has been updated to green and the mode of inheritance updated to BIALLELIC, autosomal or pseudoautosomal following NHS Genomic Medicine Service approval.
Created: 12 Dec 2025, 3:10 p.m. | Last Modified: 12 Dec 2025, 3:10 p.m.
Panel Version: 6.120
This gene and phenotype were reviewed during meetings between November 2023 & July 2024. The meetings included representatives of the North Thames and Central & South R21 testing GLHs and from the R21 Clinical Oversight Group. Clinical review and curation was performed by Natalie Chandler, Alison Male and Lyn Chitty (North Thames GLH), Stephanie Allen, Natalie Bibb, Esther Kinning and Denise Williams (Central & South GLH) and Natalie Canham, Anna De Burca and Samantha Doyle R21 Clinical Oversight Group.
Created: 29 Aug 2024, 8:33 p.m. | Last Modified: 29 Aug 2024, 8:33 p.m.
Panel Version: 4.36
Created: 29 Aug 2024, 8:33 p.m.
Last Modified: 29 Aug 2024, 8:33 p.m.
Panel version: 6.120

Samantha Doyle (The National Maternity Hospital)

Red List (low evidence)

Green on cytopenia and congenital anaemia panel, and rare anaemia panel. Both AD and AR. No additional papers linking genes to Hydrops since previous review in 2022. Red.
Created: 29 Aug 2024, 8:07 p.m. | Last Modified: 29 Aug 2024, 8:07 p.m.
Panel Version: 4.35

Mode of inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal

Phenotypes
Hereditary spherocytosis/elliptocytosis

Publications

Created: 29 Aug 2024, 8:07 p.m.
Last Modified: 29 Aug 2024, 8:07 p.m.
Panel version: 4.35

Arina Puzriakova (Genomics England Curator)

Green List (high evidence)

Upgraded from Red to Amber but there is sufficient evidence to make Green at the next GMS panel update, inline with the recent review by the R21 Clinical Oversight Group. MOI has also been updated from 'BIALLELIC, autosomal or pseudoautosomal' to 'BOTH monoallelic and biallelic, autosomal or pseudoautosomal' as per the review.
Created: 5 Sep 2025, 4:41 p.m. | Last Modified: 5 Sep 2025, 4:41 p.m.
Panel Version: 6.29
Comment on list classification: New gene added to this panel by Rhiannon Mellis (GOSH). Rating Amber inline with this review, awaiting further evidence supporting that this gene can cause a fetal phenotype (added watchlist tag)
Created: 9 Aug 2022, 2:05 p.m. | Last Modified: 9 Aug 2022, 2:06 p.m.
Panel Version: 1.897
Created: 9 Aug 2022, 2:05 p.m.
Last Modified: 9 Aug 2022, 2:06 p.m.
Panel version: 6.29

Rhiannon Mellis (Great Ormond Street Hospital)

I don't know

This gene and phenotype were reviewed during a meeting on 21st July 2022 between representatives of the North Thames and Central & South R21 testing GLHs.
Clinical review and curation was performed by Lyn Chitty, Alison Male, Rhiannon Mellis (North Thames GLH), and Stephanie Allen, Denise Williams, Esther Kinning and Anna de Burca (Central & South GLH).

Outcome of review: Likely that the phenotype is fetally relevant, support adding to the Fetal anomalies panel as an Amber gene, pending further evidence and review of other congenital anaemia genes that may cause hydrops.

Currently rated Green on the following other PanelApp panel(s): Congenital anaemias

Details of review: The fetal case in Wagner et al 2021 (PMID: 34132406) had hydrops secondary to severe fetal anaemia at 28/40. Chonat et al 2019 (PMID: 31333484) also report 3 further unrelated cases with hydrops/fetal anaemia.
Sources: Literature, Expert Review
Created: 1 Aug 2022, 5:44 p.m.

Mode of inheritance
BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal

Phenotypes
Hydrops fetalis; Congenital anaemia

Publications

Created: 1 Aug 2022, 5:44 p.m.

Panel version: 1.880

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • NHS GMS
Phenotypes
  • Hereditary pyropoikilocytosis
  • Spherocytosis, type 3, OMIM:270970
  • Congenital anaemia
  • Elliptocytosis-2, OMIM:130600
  • Hydrops fetalis
OMIM
182860
Clinvar variants
Variants in SPTA1
Penetrance
None
Publications
Panels with this gene

History Filter Activity

16 Dec 2025, Gel status: 3

Removed Tag, Removed Tag

Achchuthan Shanmugasundram (Genomics England Curator)

Tag Q3_25_promote_green was removed from gene: SPTA1. Tag Q3_25_NHS_review was removed from gene: SPTA1.

12 Dec 2025, Gel status: 3

Added New Source, Status Update

Arina Puzriakova (Genomics England Curator)

Source Expert Review Green was added to SPTA1. Rating Changed from Amber List (moderate evidence) to Green List (high evidence)

8 Sep 2025, Gel status: 2

Removed Tag, Added Tag, Added Tag

Arina Puzriakova (Genomics England Curator)

Tag watchlist was removed from gene: SPTA1. Tag Q3_25_promote_green tag was added to gene: SPTA1. Tag Q3_25_NHS_review tag was added to gene: SPTA1.

5 Sep 2025, Gel status: 2

Added New Source, Set mode of inheritance, Set Phenotypes, Set publications, Status Update

Arina Puzriakova (Genomics England Curator)

Source Expert Review Amber was added to SPTA1. Mode of inheritance for gene SPTA1 was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal Added phenotypes Hereditary pyropoikilocytosis for gene: SPTA1 Publications for gene: SPTA1 were updated from 31333484; 33082562; 34132406 to 34132406; 30198572; 38031483; 33082562; 31333484 Rating Changed from Red List (low evidence) to Amber List (moderate evidence)

29 Aug 2024, Gel status: 1

Added New Source, Added New Source, Set mode of inheritance, Set Phenotypes, Set publications, Status Update

Achchuthan Shanmugasundram (Genomics England Curator)

Source NHS GMS was added to SPTA1. Source Expert Review Red was added to SPTA1. Mode of inheritance for gene SPTA1 was changed from BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Added phenotypes Elliptocytosis-2, OMIM:130600; Spherocytosis, type 3, OMIM:270970 for gene: SPTA1 Publications for gene: SPTA1 were updated from 31333484; 34132406 to 31333484; 33082562; 34132406 Rating Changed from Amber List (moderate evidence) to Red List (low evidence)

9 Aug 2022, Gel status: 2

Entity classified by Genomics England curator

Arina Puzriakova (Genomics England Curator)

Gene: spta1 has been classified as Amber List (Moderate Evidence).

9 Aug 2022, Gel status: 0

Set publications

Arina Puzriakova (Genomics England Curator)

Publications for gene: SPTA1 were set to PMID: 34132406; PMID: 31333484

9 Aug 2022, Gel status: 0

Added Tag

Arina Puzriakova (Genomics England Curator)

Tag watchlist tag was added to gene: SPTA1.

1 Aug 2022, Gel status: 0

Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes

Rhiannon Mellis (Great Ormond Street Hospital)

gene: SPTA1 was added gene: SPTA1 was added to Fetal anomalies. Sources: Literature,Expert Review Mode of inheritance for gene: SPTA1 was set to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal Publications for gene: SPTA1 were set to PMID: 34132406; PMID: 31333484 Phenotypes for gene: SPTA1 were set to Hydrops fetalis; Congenital anaemia Review for gene: SPTA1 was set to AMBER