Red cell disorders (Version 2.0)

List	Entity	Reviews	Mode of inheritance	Details
Filter Entities 66 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 Phenotypes 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 Phenotypes 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 Phenotypes 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 Phenotypes 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 Phenotypes 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 Phenotypes 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 Phenotypes 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 Phenotypes 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 Phenotypes 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 Phenotypes 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 Phenotypes Spherocytosis, type 1, MIM# 182900 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 Phenotypes ATR-X-related syndrome MONDO:0016980 Tags
Green Green List (high evidence)	C15orf41	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 Phenotypes Dyserythropoietic anaemia, congenital, type Ib, MIM# 615631 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 Phenotypes Tn polyagglutination syndrome, somatic MIM#300622 Tags somatic
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 Phenotypes 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 Phenotypes Dyserythropoietic anaemia, congenital, type Ia, 224120 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 Phenotypes 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 Phenotypes 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 Phenotypes 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 Phenotypes Erythrocytosis, familial, 3, MIM# 609820 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 Phenotypes 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 Phenotypes 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 Phenotypes 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 Phenotypes [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 Phenotypes 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 Phenotypes 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 Phenotypes Haemolytic anaemia due to gamma-glutamylcysteine synthetase deficiency, MIM# 230450 Tags
Green Green List (high evidence)	GIF	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green London South GLH NHS GMS Phenotypes Intrinsic factor deficiency, MIM# 261000 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 Phenotypes 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 Phenotypes 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 Phenotypes 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 Phenotypes 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 Phenotypes 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 Phenotypes 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)	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 Phenotypes 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 Phenotypes Fetal haemoglobin quantitative trait locus 1, MIM# 141749 Cyanosis, transient neonatal, MIM# 613977 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 Phenotypes Dyserythropoietic anaemia, congenital, type IV, MIM# 613673 MONDO:0013355 Anaemia, congenital dyserythropoietic, type IVb, MIM#620969 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 Phenotypes X-linked sideroblastic anaemia 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 Phenotypes Phosphoglycerate kinase 1 deficiency MIM# 300653 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 Phenotypes Adenosine triphosphate, elevated, of erythrocytes, MIM# 102900 Pyruvate kinase deficiency, MIM# 266200 Tags
Green Green List (high evidence)	RHCE	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Phenotypes Rh-null disease, amorph type, MIM# 617970 Tags
Green Green List (high evidence)	RPL17	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Phenotypes 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 Phenotypes 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 Phenotypes 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 Phenotypes 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 Phenotypes 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 Phenotypes 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 Phenotypes 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 Phenotypes 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 Phenotypes Diamond-Blackfan anemia 10, MIM# 613309 MONDO:0013217 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 Phenotypes 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 Phenotypes 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 Phenotypes Dyserythropoietic anaemia, congenital, type II , MIM#224100 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 Phenotypes 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 Phenotypes Anaemia, sideroblastic, 2, pyridoxine-refractory, MIM# 205950 Tags
Green Green List (high evidence)	SLC30A10	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Expert Review Green Phenotypes 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 Phenotypes 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)	THRA	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Expert Review Green Phenotypes 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 Phenotypes 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 Phenotypes 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 Phenotypes 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 Phenotypes 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 Phenotypes 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 Phenotypes 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 Phenotypes 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 Phenotypes 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

Red cell disorders (Version 2.0)

5 reviewers

66 Entities

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