SPTA1

spectrin alpha, erythrocytic 1
OMIM: 182860, Gene2Phenotype

4 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 4 panels
Green SPTA1 in Cytopenias and congenital anaemias Level 3: Anaemias and red cell disorders Level 2: Haematological disorders Version 1.118	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 Version 3.8 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 (MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown), 130600 266140 Pyropoikilocytosis, 270970 Spherocytosis, type 3 Spherocytosis, type 3 (BIALLELIC, autosomal or pseudoautosomal), 270970 270970 Spherocytosis, type 3 130600 Elliptocytosis-2 RBC membrane abnormality 266140 Pyropoikilocytosis Pyropoikilocytosis (BIALLELIC, autosomal or pseudoautosomal), 266140
Amber SPTA1 in Fetal anomalies Version 3.155 Latest signed off version: v3.0 (22 Mar 2023)	review	BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal	Sources Expert Review Amber Expert Review Literature Phenotypes Hydrops fetalis Congenital anaemia Tags watchlist
Green SPTA1 in Severe Paediatric Disorders Version 1.184	review	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Next Generation Children Project Expert Review Green Expert list Phenotypes Elliptocytosis-2, 130600 Spherocytosis, type 3, 270970 Pyropoikilocytosis, 266140