SPTA1

spectrin alpha, erythrocytic 1
OMIM: 182860, Gene2Phenotype

3 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 3 panels
Green SPTA1 in Cytopenias and congenital anaemias Level 3: Anaemias and red cell disorders Level 2: Haematological disorders Version 1.123	review	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Illumina TruGenome Clinical Sequencing Services Radboud University Medical Center, Nijmegen 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
Green SPTA1 in Rare anaemia Level 2: Haematology Version 3.19 Latest signed off version: v3.0 (22 Mar 2023)	review	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources North West GLH Yorkshire and North East GLH London South GLH NHS GMS Expert Review Green Wessex and West Midlands GLH Phenotypes Elliptocytosis-2, OMIM:130600 Pyropoikilocytosis, OMIM:266140 Spherocytosis, type 3, OMIM:270970
Green SPTA1 in Fetal anomalies Level 2: Fetal (including NIPD) Version 6.140 Latest signed off version: v6.0 (30 Apr 2025)	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Expert Review Literature Phenotypes Hereditary pyropoikilocytosis Spherocytosis, type 3, OMIM:270970 Congenital anaemia Elliptocytosis-2, OMIM:130600 Hydrops fetalis