Hydrops fetalis
Gene: SPTA1

SPTA1 (spectrin alpha, erythrocytic 1)
EnsemblGeneIds (GRCh38): ENSG00000163554
EnsemblGeneIds (GRCh37): ENSG00000163554
OMIM: 182860, Gene2Phenotype
SPTA1 is in 6 panels

2 reviews

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

Additional reports of severe perinatal presentations with hydrops identified.
Created: 26 Jul 2022, 4:26 a.m. | Last Modified: 26 Jul 2022, 4:26 a.m.

Panel Version: 0.287

Mode of inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal

Phenotypes
Spherocytosis type 3 #270970; Elliptocytosis-2 #130600; Pyropoikilocytosis #266140

Publications

Created: 26 Jul 2022, 4:26 a.m.
Last Modified: 26 Jul 2022, 4:26 a.m.
Panel version: 0.287

Di Milnes (Genetic Health Queensland)

I don't know

single case fetus consanguineous parents
severe anaemia with NIHF
homozygous variant NM_003126.4:c.83G>A
Created: 25 Jul 2022, 2:48 a.m. | Last Modified: 25 Jul 2022, 2:48 a.m.

Panel Version: 0.284

Mode of inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal

Phenotypes
Spherocytosis type 3 #270970; Elliptocytosis-2 #130600; Pyropoikilocytosis #266140

Publications

34132406

Created: 25 Jul 2022, 2:45 a.m.
Last Modified: 25 Jul 2022, 2:45 a.m.
Panel version: 0.284

Details

Mode of Inheritance

BOTH monoallelic and biallelic, autosomal or pseudoautosomal

Sources

Expert Review Green

Phenotypes

Spherocytosis type 3 #270970
Elliptocytosis-2 #130600
pyropoikilocytosis #266140

OMIM

182860

Clinvar variants

Variants in SPTA1

Penetrance

None

Publications

Panels with this gene