Red cell disorders (Version 2.0)

List	Entity	Reviews	Mode of inheritance	Details
Filter Entities 118 Entitiess
Green Green List (high evidence)	A4GALT	2 reviews 1 green 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Disease associations A4GALT-congenital disorder of glycosylation MONDO:0100587 Tags
Green Green List (high evidence)	ABCB7	1 review 1 green	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Green London South GLH NHS GMS North West GLH Wessex and West Midlands GLH Yorkshire and North East GLH Disease associations Anaemia, sideroblastic, with ataxia, MIM# 301310 Tags
Green Green List (high evidence)	ABCG5	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green London South GLH NHS GMS North West GLH Wessex and West Midlands GLH Yorkshire and North East GLH Disease associations Sitosterolaemia 2, MIM# 618666 Tags clinical trial treatable
Green Green List (high evidence)	ABCG8	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green London South GLH NHS GMS North West GLH Wessex and West Midlands GLH Yorkshire and North East GLH Disease associations Sitosterolemia 1, MIM# 210250 Tags
Green Green List (high evidence)	ADA2	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Victorian Clinical Genetics Services Wessex and West Midlands GLH Disease associations Vasculitis, autoinflammation, immunodeficiency, and haematologic defects syndrome, MIM# 615688 Tags
Green Green List (high evidence)	AK1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green London South GLH NHS GMS North West GLH Wessex and West Midlands GLH Yorkshire and North East GLH Disease associations Haemolytic anaemia due to adenylate kinase deficiency, MIM# 612631 Tags
Green Green List (high evidence)	ALAS2	1 review 1 green	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Green London South GLH NHS GMS North West GLH Victorian Clinical Genetics Services Wessex and West Midlands GLH Yorkshire and North East GLH Disease associations Anaemia, sideroblastic, 1, MIM# 300751 Tags
Green Green List (high evidence)	ALDOA	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green London South GLH NHS GMS North West GLH Wessex and West Midlands GLH Yorkshire and North East GLH Disease associations Glycogen storage disease XII , MIM#611881 Tags
Green Green List (high evidence)	AMMECR1	1 review 1 green	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Expert Review Green Disease associations Midface hypoplasia, hearing impairment, elliptocytosis, and nephrocalcinosis, MIM# 300990 Tags
Green Green List (high evidence)	AMN	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green London South GLH NHS GMS North West GLH Wessex and West Midlands GLH Yorkshire and North East GLH Disease associations Imerslund-Grasbeck syndrome 2, MIM# 618882 Tags
Green Green List (high evidence)	ANK1	1 review 1 green	BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal	Sources Expert Review Green London South GLH NHS GMS North West GLH Wessex and West Midlands GLH Yorkshire and North East GLH Disease associations Spherocytosis, type 1, MIM# 182900 Tags
Green Green List (high evidence)	ATP11C	2 reviews 1 green	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	Sources Expert Review Green Literature Disease associations X-linked congenital hemolytic anemia, MONDO:0060455 Tags
Green Green List (high evidence)	ATRX	1 review 1 green	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	Sources Expert Review Green London South GLH NHS GMS Disease associations ATR-X-related syndrome MONDO:0016980 Tags
Green Green List (high evidence)	BPGM	2 reviews 1 green	BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal	Sources Expert list Expert Review Green Disease associations Erythrocytosis, familial, 8, MIM# 222800 Tags
Green Green List (high evidence)	C1GALT1C1	1 review 1 green	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Green Literature Disease associations Tn polyagglutination syndrome, somatic MIM#300622 Tags somatic
Green Green List (high evidence)	CBLIF	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green London South GLH NHS GMS Disease associations Intrinsic factor deficiency, MIM# 261000 Tags
Green Green List (high evidence)	CD59	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS North West GLH Yorkshire and North East GLH Disease associations Haemolytic anaemia, CD59-mediated, with or without immune-mediated polyneuropathy, MIM# 612300 Tags
Green Green List (high evidence)	CDAN1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green London South GLH NHS GMS North West GLH Victorian Clinical Genetics Services Wessex and West Midlands GLH Yorkshire and North East GLH Disease associations Dyserythropoietic anaemia, congenital, type Ia, 224120 Tags
Green Green List (high evidence)	CDIN1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green London South GLH NHS GMS North West GLH Wessex and West Midlands GLH Yorkshire and North East GLH Disease associations Dyserythropoietic anaemia, congenital, type Ib, MIM# 615631 Tags
Green Green List (high evidence)	CUBN	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green London South GLH NHS GMS North West GLH Wessex and West Midlands GLH Yorkshire and North East GLH Disease associations Imerslund-Grasbeck syndrome 1, MIM# 261100 Tags treatable
Green Green List (high evidence)	CYB5R3	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green London South GLH NHS GMS North West GLH Wessex and West Midlands GLH Yorkshire and North East GLH Disease associations Methaemoglobinaemia, type I and II, MIM# 250800 Tags
Green Green List (high evidence)	DHFR	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green London South GLH NHS GMS North West GLH Wessex and West Midlands GLH Yorkshire and North East GLH Disease associations Megaloblastic anaemia due to dihydrofolate reductase deficiency, MIM# 613839 Tags
Green Green List (high evidence)	EGLN1	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert list Expert Review Green Disease associations Erythrocytosis, familial, 3, MIM# 609820 Tags
Green Green List (high evidence)	EPAS1	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert list Expert Review Green Disease associations Erythrocytosis, familial, 4, MIM# 611783 Hereditary anaemia, MONDO:0016624, EPAS1-related Tags
Green Green List (high evidence)	EPB41	1 review 1 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green London South GLH NHS GMS North West GLH Wessex and West Midlands GLH Yorkshire and North East GLH Disease associations Elliptocytosis-1, MIM# 611804 Tags
Green Green List (high evidence)	EPB42	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green London South GLH NHS GMS North West GLH Wessex and West Midlands GLH Yorkshire and North East GLH Disease associations Spherocytosis, type 5, MIM# 612690 Tags
Green Green List (high evidence)	EPO	1 review 1 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Disease associations Erythrocytosis, familial, 5, MIM# 617907 Diamond-Blackfan anaemia-like, MIM# 617911 Tags
Green Green List (high evidence)	EPOR	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert list Expert Review Green Disease associations [Erythrocytosis, familial, 1], MIM# 133100 Tags
Green Green List (high evidence)	G6PD	1 review 1 green	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	Sources Expert Review Green London South GLH NHS GMS North West GLH Wessex and West Midlands GLH Yorkshire and North East GLH Disease associations Haemolytic anaemia, G6PD deficient (favism), MIM# 300908 Tags
Green Green List (high evidence)	GATA1	1 review 1 green	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert list Expert Review Green London South GLH NHS GMS North West GLH Victorian Clinical Genetics Services Wessex and West Midlands GLH Yorkshire and North East GLH Disease associations Thrombocytopenia, X-linked, with or without dyserythropoietic anaemia, MIM# 300367 Haemolytic anaemia due to elevated adenosine deaminase, MIM# 301083 Tags
Green Green List (high evidence)	GCLC	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green London South GLH NHS GMS North West GLH Wessex and West Midlands GLH Yorkshire and North East GLH Disease associations Haemolytic anaemia due to gamma-glutamylcysteine synthetase deficiency, MIM# 230450 Tags
Green Green List (high evidence)	GLRX5	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green London South GLH NHS GMS North West GLH Victorian Clinical Genetics Services Wessex and West Midlands GLH Yorkshire and North East GLH Disease associations Anaemia, sideroblastic, 3, pyridoxine-refractory, MIM# 616860 Tags
Green Green List (high evidence)	GPI	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green London South GLH NHS GMS North West GLH Wessex and West Midlands GLH Yorkshire and North East GLH Disease associations Haemolytic anaemia, nonspherocytic, due to glucose phosphate isomerase deficiency, MIM# 613470 Tags
Green Green List (high evidence)	GSS	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green London South GLH NHS GMS North West GLH Wessex and West Midlands GLH Yorkshire and North East GLH Disease associations Haemolytic anaemia due to glutathione synthetase deficiency, MIM# 231900 Tags
Green Green List (high evidence)	HBA1	1 review 1 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green London South GLH NHS GMS North West GLH Wessex and West Midlands GLH Yorkshire and North East GLH Disease associations Thalassemias, alpha-, MIM# 604131 Heinz body anemias, alpha-, MIM# 140700 Erythrocytosis 7, MIM# 617981 Tags
Green Green List (high evidence)	HBA2	1 review 1 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green London South GLH NHS GMS North West GLH Wessex and West Midlands GLH Yorkshire and North East GLH Disease associations Thalassemia, alpha-, MIM# 604131 Heinz body anaemia, MIM# 140700 Erythrocytosis 7, MIM# 617981 Tags
Green Green List (high evidence)	HBB	1 review 1 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green London South GLH NHS GMS North West GLH Wessex and West Midlands GLH Yorkshire and North East GLH Disease associations Thalassemia, beta, MIM# 613985 Sickle cell anaemia, MIM# 603903 Methaemoglobinaemia, beta type, MIM# 617971 Hereditary persistence of fetal haemoglobin, MIM# 141749 Heinz body anaemia, MIM# 140700 Erythrocytosis 6, MIM# 617980 Tags
Green Green List (high evidence)	HBD	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green London South GLH NHS GMS North West GLH Wessex and West Midlands GLH Yorkshire and North East GLH Disease associations Thalassaemia, delta- Thalassaemia due to Hb Lepore Tags
Green Green List (high evidence)	HBG1	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green London South GLH NHS GMS North West GLH Wessex and West Midlands GLH Yorkshire and North East GLH Disease associations Fetal haemoglobin quantitative trait locus 1, 141749 Tags
Green Green List (high evidence)	HBG2	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green London South GLH NHS GMS North West GLH Wessex and West Midlands GLH Yorkshire and North East GLH Disease associations Fetal haemoglobin quantitative trait locus 1, MIM# 141749 Cyanosis, transient neonatal, MIM# 613977 Tags
Green Green List (high evidence)	HK1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green London South GLH NHS GMS North West GLH Wessex and West Midlands GLH Yorkshire and North East GLH Disease associations Haemolytic anaemia due to hexokinase deficiency, MIM# 235700 Tags
Green Green List (high evidence)	HSPA9	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green London South GLH NHS GMS North West GLH Wessex and West Midlands GLH Yorkshire and North East GLH Disease associations Anaemia, sideroblastic, 4, MIM# 182170 Tags
Green Green List (high evidence)	Chromosome 15q25 deletion syndrome ISCA-37500-Loss Region	2 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert list Expert Review Green Disease associations Chromosome 15q25 deletion syndrome MIM#614294 intellectual disability congenital abnormalities haematological abnormalities Tags
Green Green List (high evidence)	JAK2	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Expert Review Green Disease associations Erythrocytosis, somatic, 133100 Familial polycythemia MONDO:0001115, JAK2-related Tags somatic
Green Green List (high evidence)	KCNN4	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green London South GLH NHS GMS North West GLH Wessex and West Midlands GLH Yorkshire and North East GLH Disease associations Dehydrated hereditary stomatocytosis 2, MIM# 616689 Tags
Green Green List (high evidence)	KLF1	1 review 1 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green London South GLH NHS GMS North West GLH Victorian Clinical Genetics Services Wessex and West Midlands GLH Yorkshire and North East GLH Disease associations Dyserythropoietic anaemia, congenital, type IV, MIM# 613673 MONDO:0013355 Anaemia, congenital dyserythropoietic, type IVb, MIM#620969 Tags
Green Green List (high evidence)	LPIN2	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green London South GLH NHS GMS North West GLH Wessex and West Midlands GLH Yorkshire and North East GLH Disease associations Majeed syndrome, MIM# 609628 Chronic recurrent multifocal osteomyelitis with congenital dyserythropoietic anaemia Tags
Green Green List (high evidence)	MTR	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green London South GLH NHS GMS North West GLH Wessex and West Midlands GLH Yorkshire and North East GLH Disease associations Homocystinuria-megaloblastic anaemia, cblG complementation type, MIM# 250940 Tags
Green Green List (high evidence)	MTRR	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green London South GLH NHS GMS North West GLH Wessex and West Midlands GLH Yorkshire and North East GLH Disease associations Homocystinuria-megaloblastic anaemia, cbl E type, MIM# 236270 Tags
Green Green List (high evidence)	NDUFB11	2 reviews 1 green	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Green NHS GMS Wessex and West Midlands GLH Disease associations X-linked sideroblastic anaemia Tags
Green Green List (high evidence)	NT5C3A	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green London South GLH NHS GMS North West GLH Wessex and West Midlands GLH Yorkshire and North East GLH Disease associations Anaemia, haemolytic, due to UMPH1 deficiency, MIM# 266120 Tags
Green Green List (high evidence)	PFKM	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green London South GLH NHS GMS North West GLH Wessex and West Midlands GLH Yorkshire and North East GLH Disease associations Glycogen storage disease VII, MIM# 232800 Tags
Green Green List (high evidence)	PGK1	1 review 1 green	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Green London South GLH NHS GMS Disease associations Phosphoglycerate kinase 1 deficiency MIM# 300653 Tags
Green Green List (high evidence)	PIEZO1	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green London South GLH NHS GMS North West GLH Wessex and West Midlands GLH Yorkshire and North East GLH Disease associations Dehydrated hereditary stomatocytosis with or without pseudohyperkalaemia and/or perinatal oedema, MIM# 194380 Erythrocytosis Tags
Green Green List (high evidence)	PKLR	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green London South GLH NHS GMS North West GLH Wessex and West Midlands GLH Yorkshire and North East GLH Disease associations Adenosine triphosphate, elevated, of erythrocytes, MIM# 102900 Pyruvate kinase deficiency, MIM# 266200 Tags
Green Green List (high evidence)	PUS1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green London South GLH NHS GMS North West GLH Victorian Clinical Genetics Services Wessex and West Midlands GLH Yorkshire and North East GLH Disease associations Myopathy, lactic acidosis, and sideroblastic anaemia 1, MIM# 600462 Tags
Green Green List (high evidence)	RACGAP1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Disease associations Anaemia, congenital dyserythropoietic, type IIIb, autosomal recessive 619789 Tags
Green Green List (high evidence)	RHAG	1 review 1 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green London South GLH NHS GMS North West GLH Wessex and West Midlands GLH Yorkshire and North East GLH Disease associations Anaemia, haemolytic, Rh-null, regulator type MIM# 268150 Overhydrated hereditary stomatocytosis MIM#185000 Tags
Green Green List (high evidence)	RHCE	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Disease associations Rh-null disease, amorph type, MIM# 617970 Tags
Green Green List (high evidence)	RPL11	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green London South GLH NHS GMS North West GLH Victorian Clinical Genetics Services Wessex and West Midlands GLH Yorkshire and North East GLH Disease associations Diamond-Blackfan anemia 7, MIM# 612562 MONDO:0012938 Tags
Green Green List (high evidence)	RPL15	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green London South GLH NHS GMS North West GLH Victorian Clinical Genetics Services Wessex and West Midlands GLH Yorkshire and North East GLH Disease associations Diamond-Blackfan anaemia 12, MIM# 615550 Tags
Green Green List (high evidence)	RPL17	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Disease associations Diamond-Blackfan anaemia 22, MIM# 621262 Tags
Green Green List (high evidence)	RPL26	2 reviews 1 green 1 red	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green London South GLH NHS GMS Victorian Clinical Genetics Services Wessex and West Midlands GLH Disease associations Diamond-Blackfan anaemia 11, MIM# 614900 Tags
Green Green List (high evidence)	RPL35A	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green London South GLH NHS GMS North West GLH Victorian Clinical Genetics Services Wessex and West Midlands GLH Yorkshire and North East GLH Disease associations Diamond-Blackfan anaemia 5, MIM# 612528 Tags SV/CNV
Green Green List (high evidence)	RPL5	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green London South GLH NHS GMS North West GLH Victorian Clinical Genetics Services Wessex and West Midlands GLH Yorkshire and North East GLH Disease associations Diamond-Blackfan anemia 6, MIM# 612561 MONDO:0012937 Tags
Green Green List (high evidence)	RPS10	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green London South GLH NHS GMS North West GLH Victorian Clinical Genetics Services Wessex and West Midlands GLH Yorkshire and North East GLH Disease associations Diamond-Blackfan anaemia 9, MIM# 613308 Tags
Green Green List (high evidence)	RPS17	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green NHS GMS North West GLH Victorian Clinical Genetics Services Wessex and West Midlands GLH Yorkshire and North East GLH Disease associations Diamond-Blackfan anaemia 4, MIM# 612527 Tags
Green Green List (high evidence)	RPS19	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green London South GLH NHS GMS North West GLH Victorian Clinical Genetics Services Wessex and West Midlands GLH Yorkshire and North East GLH Disease associations Diamond-Blackfan anaemia 1, MIM# 105650 MONDO:0007110 Tags
Green Green List (high evidence)	RPS24	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green London South GLH NHS GMS North West GLH Victorian Clinical Genetics Services Wessex and West Midlands GLH Yorkshire and North East GLH Disease associations Diamond-Blackfan anaemia 3, MIM# 610629 Tags
Green Green List (high evidence)	RPS26	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green London South GLH NHS GMS North West GLH Victorian Clinical Genetics Services Wessex and West Midlands GLH Yorkshire and North East GLH Disease associations Diamond-Blackfan anemia 10, MIM# 613309 MONDO:0013217 Tags
Green Green List (high evidence)	RPS28	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green NHS GMS Victorian Clinical Genetics Services Wessex and West Midlands GLH Yorkshire and North East GLH Disease associations Diamond Blackfan anaemia 15 with mandibulofacial dysostosis, MIM# 606164 Tags
Green Green List (high evidence)	RPS7	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green London South GLH NHS GMS North West GLH Victorian Clinical Genetics Services Wessex and West Midlands GLH Yorkshire and North East GLH Disease associations Diamond-Blackfan anaemia 8, MIM# 612563 MONDO:0012939 Tags
Green Green List (high evidence)	SBDS	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS North West GLH Victorian Clinical Genetics Services Wessex and West Midlands GLH Yorkshire and North East GLH Disease associations Shwachman-Diamond syndrome, MIM# 260400 Tags
Green Green List (high evidence)	SEC23B	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green London South GLH NHS GMS North West GLH Victorian Clinical Genetics Services Wessex and West Midlands GLH Yorkshire and North East GLH Disease associations Dyserythropoietic anaemia, congenital, type II , MIM#224100 Tags
Green Green List (high evidence)	SLC11A2	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS North West GLH Wessex and West Midlands GLH Yorkshire and North East GLH Disease associations Anaemia, hypochromic microcytic, with iron overload 1 MIM#206100 Tags
Green Green List (high evidence)	SLC14A1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Disease associations Familial haemolytic anaemia, MONDO:0003689, SLC14A1-related [Blood group, Kidd], MIM#111000 Tags
Green Green List (high evidence)	SLC19A2	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green London South GLH NHS GMS North West GLH Victorian Clinical Genetics Services Wessex and West Midlands GLH Yorkshire and North East GLH Disease associations Thiamine-responsive megaloblastic anaemia syndrome, MIM# 249270 Tags
Green Green List (high evidence)	SLC25A38	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green London South GLH NHS GMS North West GLH Victorian Clinical Genetics Services Wessex and West Midlands GLH Yorkshire and North East GLH Disease associations Anaemia, sideroblastic, 2, pyridoxine-refractory, MIM# 205950 Tags
Green Green List (high evidence)	SLC2A1	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green London South GLH NHS GMS North West GLH Wessex and West Midlands GLH Yorkshire and North East GLH Disease associations Stomatin-deficient cryohydrocytosis with neurologic defects MIM# 608885 delayed psychomotor development, seizures, cataracts, pseudohyperkalaemia haemolytic anaemia Tags
Green Green List (high evidence)	SLC30A10	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Expert Review Green Disease associations Dystonia/Parkinsonism, Hypermanganesemia, Polycythemia, and Chronic Liver Disease Hypermanganesemia with dystonia, polycythemia, and cirrhosis, 613280 Tags
Green Green List (high evidence)	SLC4A1	1 review 1 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green London South GLH NHS GMS North West GLH Wessex and West Midlands GLH Yorkshire and North East GLH Disease associations Cryohydrocytosis MIM# 185020 Distal renal tubular acidosis 4 with haemolytic anaemia MIM# 611590 Ovalocytosis, SA type MIM# 166900 Spherocytosis, type 4 MIM# 612653 Tags
Green Green List (high evidence)	SPTA1	1 review 1 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green London South GLH NHS GMS North West GLH Wessex and West Midlands GLH Yorkshire and North East GLH Disease associations Elliptocytosis-2 MIM# 130600 Pyropoikilocytosis MIM# 266140 Spherocytosis, type 3 MIM# 270970 Tags
Green Green List (high evidence)	SPTB	1 review 1 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green London South GLH NHS GMS North West GLH Wessex and West Midlands GLH Yorkshire and North East GLH Disease associations Spherocytosis, type 2 MIM# 616649 Elliptocytosis-3 MIM# 617948 Anaemia, neonatal haemolytic, fatal or near-fatal MIM# 617948 Tags
Green Green List (high evidence)	SUPT5H	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Disease associations Erythrocyte disorder, MONDO:0044347, SUPT5H-related Tags
Green Green List (high evidence)	TCN2	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green London South GLH NHS GMS North West GLH Wessex and West Midlands GLH Yorkshire and North East GLH Disease associations Transcobalamin II deficiency MIM# 275350 Decreased Ig levels Megaloblastic anaemia pancytopaenia Reticulocytopaenia failure to thrive diarrhoea hypogammaglobulinaemia pallor hypotonia respiratory infection if untreated (B12) for prolonged periods results in intellectual disability Tags
Green Green List (high evidence)	TF	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS North West GLH Wessex and West Midlands GLH Yorkshire and North East GLH Disease associations Atransferrinaemia MIM# 209300 iron overload hypochromic anaemia low serum transferrin Hemosiderosis of the heart and/or liver Congestive heart failure Tags
Green Green List (high evidence)	THRA	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Expert Review Green Disease associations Hypothyroidism, congenital, nongoitrous, 6, MIM# 614450 Tags
Green Green List (high evidence)	TMPRSS6	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS North West GLH Wessex and West Midlands GLH Yorkshire and North East GLH Disease associations Iron-refractory iron deficiency anaemia MIM# 206200 Iron malabsorption hypochromic microcytic anaemia Tags
Green Green List (high evidence)	TPI1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green London South GLH NHS GMS North West GLH Wessex and West Midlands GLH Yorkshire and North East GLH Disease associations Haemolytic anaemia due to triosephosphate isomerase deficiency MIM# 615512 chronic haemolytic anaemia neuromuscular dysfunction intracellular accumulation of dihydroxyacetone phosphate (DHAP) Tags
Green Green List (high evidence)	TRNT1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Wessex and West Midlands GLH Yorkshire and North East GLH Disease associations Sideroblastic anaemia with B-cell immunodeficiency, periodic fevers, and developmental delay, MIM# 616084 Tags
Green Green List (high evidence)	UMPS	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green London South GLH NHS GMS Disease associations Orotic aciduria MIM# 258900 megaloblastic anaemia orotic acid crystalluria ID immunodeficiencies Tags
Green Green List (high evidence)	VHL	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Disease associations Erythrocytosis, familial, 2, MIM# 263400 Tags
Green Green List (high evidence)	VPS4A	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Disease associations CIMDAG syndrome MIM# 619273 Tags
Green Green List (high evidence)	XK	1 review 1 green	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Green London South GLH NHS GMS Disease associations McLeod syndrome with or without chronic granulomatous disease MIM# 300842 absence of red blood cell Kx antigen weak expression of Kell red blood cell antigens neuroacanthocytosis (peripheral and central nervous systems) cardiovascular abnormalities myopathy Tags
Green Green List (high evidence)	YARS2	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green London South GLH NHS GMS North West GLH Wessex and West Midlands GLH Yorkshire and North East GLH Disease associations Myopathy, lactic acidosis, and sideroblastic anaemia 2 MIM# 613561 sideroblastic anaemia muscle atrophy myopathy lactic acidosis Hypertrophic cardiomyopathy Hepatomegaly Decreased cytochrome C oxidase activity Tags
Amber Amber List (moderate evidence)	CYB5A	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber London South GLH NHS GMS Disease associations Methemoglobinaemia and ambiguous genitalia MIM#250790 Tags
Amber Amber List (moderate evidence)	FTCD	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber London South GLH NHS GMS Disease associations Glutamate formiminotransferase deficiency MIM# 229100 Tags
Amber Amber List (moderate evidence)	GSR	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber NHS GMS North West GLH Wessex and West Midlands GLH Yorkshire and North East GLH Disease associations Haemolytic anaemia due to glutathione reductase deficiency, MIM# 618660 Tags
Amber Amber List (moderate evidence)	HSCB	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Amber Disease associations Anaemia, sideroblastic, 5 619523 Tags
Amber Amber List (moderate evidence)	KIF23	1 review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert list Expert Review Amber London South GLH NHS GMS North West GLH Wessex and West Midlands GLH Yorkshire and North East GLH Disease associations Anaemia, congenital dyserythropoietic, type IIIA 105600 Tags
Amber Amber List (moderate evidence)	LARS2	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber NHS GMS Wessex and West Midlands GLH Disease associations Hydrops, lactic acidosis, and sideroblastic anaemia MIM# 617021 Tags
Amber Amber List (moderate evidence)	RPL18	1 review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert list Expert Review Amber NHS GMS Wessex and West Midlands GLH Disease associations Diamond-Blackfan anaemia 18, MIM# 618310 Tags
Amber Amber List (moderate evidence)	RPL27	1 review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Amber London South GLH NHS GMS Victorian Clinical Genetics Services Wessex and West Midlands GLH Disease associations Diamond-Blackfan anaemia 16, MIM# 617408 Tags
Amber Amber List (moderate evidence)	RPL31	1 review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Amber NHS GMS Victorian Clinical Genetics Services Wessex and West Midlands GLH Yorkshire and North East GLH Disease associations Diamond Blackfan anaemia Tags
Amber Amber List (moderate evidence)	RPL9	1 review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert list Expert Review Amber London South GLH NHS GMS North West GLH Wessex and West Midlands GLH Yorkshire and North East GLH Disease associations Diamond Blackfan anaemia Tags
Amber Amber List (moderate evidence)	RPS29	1 review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Amber London South GLH NHS GMS North West GLH Victorian Clinical Genetics Services Wessex and West Midlands GLH Yorkshire and North East GLH Disease associations Diamond-Blackfan anaemia 13, MIM# 615909 Tags
Amber Amber List (moderate evidence)	SH2B3	1 review	Other	Sources Expert Review Expert Review Amber Disease associations Erythrocytosis, somatic, MIM# 133100 Tags somatic
Amber Amber List (moderate evidence)	SLC19A1	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Amber Disease associations Megaloblastic anemia, folate-responsive, MIM# 601775 Tags
Red Red List (low evidence)	COX4I2	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red London South GLH NHS GMS North West GLH Wessex and West Midlands GLH Yorkshire and North East GLH Disease associations Exocrine pancreatic insufficiency, dyserythropoietic anemia, and calvarial hyperostosis, MIM#612714 Tags
Red Red List (low evidence)	DKC1	1 review 1 red	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Red NHS GMS Victorian Clinical Genetics Services Yorkshire and North East GLH Disease associations Dyskeratosis congenita, X-linked 305000 Hoyeraal-Hreidarsson Syndrome Tags
Red Red List (low evidence)	GPX1	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red London South GLH NHS GMS Disease associations Haemolytic anaemia due to glutathione peroxidase deficiency MIM#614164 Tags
Red Red List (low evidence)	NHP2	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red NHS GMS Victorian Clinical Genetics Services Yorkshire and North East GLH Disease associations Dyskeratosis congenita, autosomal recessive 2, MIM# 613987 Tags
Red Red List (low evidence)	NMNAT3	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Literature Disease associations Familial hemolytic anemia, MONDO:0003689 Tags
Red Red List (low evidence)	POLE	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Literature Disease associations MONDO:0002254 syndromic disease Tags
Red Red List (low evidence)	RPS27	1 review 1 red	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Red NHS GMS North West GLH Victorian Clinical Genetics Services Wessex and West Midlands GLH Yorkshire and North East GLH Disease associations Diamond-Blackfan anemia 17, MIM# 617409 Tags
Red Red List (low evidence)	SF3B1	1 review 1 red	Other	Sources Expert Review Red London South GLH NHS GMS Disease associations Myelodysplastic syndrome, somatic MIM# 614286 Tags somatic
Red Red List (low evidence)	STEAP3	3 reviews 3 red	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Red Genomics England PanelApp NHS Genomic Medicine Service NHS GMS Wessex and West Midlands GLH Disease associations Severe congenital hypochromic anemia with ringed sideroblasts, MONDO:0014094 Tags disputed
Red Red List (low evidence)	TSR2	1 review 1 red	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Red NHS GMS North West GLH Victorian Clinical Genetics Services Wessex and West Midlands GLH Yorkshire and North East GLH Disease associations Diamond-Blackfan anemia 14 with mandibulofacial dysostosis, MIM# 300946 Tags

Red cell disorders (Version 2.0)

10 reviewers

118 Entities

118 reviewed, 95 green

2 reviews

Sources

Disease associations

Tags

1 review

Sources

Disease associations

Tags

1 review

Sources

Disease associations

Tags

1 review

Sources

Disease associations

Tags

1 review

Sources

Disease associations

Tags

1 review

Sources

Disease associations

Tags

1 review

Sources

Disease associations

Tags

1 review

Sources

Disease associations

Tags

1 review

Sources

Disease associations

Tags

1 review

Sources

Disease associations

Tags

1 review

Sources

Disease associations

Tags

2 reviews

Sources

Disease associations

Tags

1 review

Sources

Disease associations

Tags

2 reviews

Sources

Disease associations

Tags

1 review

Sources

Disease associations

Tags

1 review

Sources

Disease associations

Tags

1 review

Sources

Disease associations

Tags

1 review

Sources

Disease associations

Tags

1 review

Sources

Disease associations

Tags