SPTB

spectrin beta, erythrocytic
OMIM: 182870, Gene2Phenotype

4 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 4 panels
No list SPTB in Fetal hydrops Level 3: Fetal disorders Level 2: Dysmorphic and congenital abnormality syndromes Version 1.95	review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Literature Phenotypes Nonimmune hydrops fetalis
Green SPTB 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 Spherocytosis,616649 Anemia, neonatal hemolytic, fatal and near-fatal
Green SPTB 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 Spherocytosis,616649 Elliptocytosis Anemia, neonatal hemolytic, fatal and near-fatal RBC membrane abnormality 617948 Elliptocytosis-3 616649 Spherocytosis, type 2 616649 Anemia, neonatal hemolytic, fatal and near-fatal
Green SPTB in Fetal anomalies Level 2: Fetal (including NIPD) Version 6.181 Latest signed off version: v6.0 (30 Apr 2025)	review	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Phenotypes Elliptocytosis-3, OMIM:617948 Anemia, neonatal hemolytic, fatal or near-fatal, OMIM:617948 Spherocytosis, type 2, OMIM:616649