SPTA1

spectrin alpha, erythrocytic 1
OMIM: 182860, ClinGen, DECIPHER

6 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 6 panels
Green SPTA1 in Hydrops fetalis Level 2: Dysmorphic and congenital abnormality syndromes Version 0.324	2 reviews	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Spherocytosis type 3 #270970 Elliptocytosis-2 #130600 pyropoikilocytosis #266140
Green SPTA1 in Mendeliome Version 1.2302	1 review	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Elliptocytosis-2 MIM# 130600 Pyropoikilocytosis MIM# 266140 Spherocytosis, type 3 MIM# 270970
Green SPTA1 in Additional findings_Paediatric Level 2: Screening Version 0.278	0 reviews	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources BabySeq Category A gene Expert Review Green Phenotypes Elliptocytosis
Green SPTA1 in Red cell disorders Level 2: Haematological disorders Version 1.29	1 review	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Yorkshire and North East GLH NHS GMS Wessex and West Midlands GLH North West GLH London South GLH Phenotypes Elliptocytosis-2 MIM# 130600 Pyropoikilocytosis MIM# 266140 Spherocytosis, type 3 MIM# 270970
Green SPTA1 in Fetal anomalies Version 1.313	1 review	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Expert Review Phenotypes Spherocytosis type 3 #270970 Elliptocytosis-2 #130600 pyropoikilocytosis #266140
Red SPTA1 in BabyScreen+ newborn screening Level 2: Screening Version 1.116	1 review	BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal	Sources Expert Review Red BabySeq Category A gene Phenotypes Elliptocytosis-2 MIM# 130600 Pyropoikilocytosis MIM# 266140 Spherocytosis, type 3 MIM# 270970