Congenital anaemias (Version 0.99)

This Panel is marked as Internal

Description

Relevant diseases:
•	Early onset pancytopenia and red cell disorders
•	Congenital anaemias

Inclusion criteria: 
•	Anaemia on more than one occasion

Exclusion criteria: 
•	Evidence that the anaemia is acquired (e.g. low B12, folate or ferritin or cytogenetic abnormalities)

Prior Genetic Testing:
•	The following specific gene tests are advised as a means of limiting the re-discovery of recognised pathogenic variants that could be more efficiently identified through the existing catalogue of UKGTN tests: 

-	As appropriate based on presentation
e.g. Sideroblastic anaemia – ALAS2, SLC25A38;                                 Congenital Dyserythropoietic Anemia – C15orf41, CDAN1, GATA1

Panel Activity

4 reviewers

Ellen McDonagh (Genomics England Curator)

Group: Other
Workplace: Other
Richard Scott (North Thames GMC/UCL)

Group: NHS Genomic Medicine Centre
Workplace: NHS clinical service
emma baple (South West GMC)

Group: NHS Genomic Medicine Centre
Workplace: NHS clinical service
Catherine Snow (Genomics England)

Group: Other
Workplace: Other

83 Entities

4 reviewed, 29 green

List	Entity	Reviews	Mode of inheritance	Details
Filter Entities 83 Entitiess
Green Green List (high evidence)	ALAS2	0 reviews	X-LINKED: hemizygous mutation in males, may be caused by monoallelic mutations in females	Sources Eligibility statement prior genetic testing Illumina TruGenome Clinical Sequencing Services Radboud University Medical Center, Nijmegen UKGTN Phenotypes Anemia, sideroblastic, X-linked, 300751Protoporphyria, erythropoietic, X-linked, 300752 Sideroblastic Anemia and Ataxia Sideroblastic anaemia Tags
Green Green List (high evidence)	BRCA2	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Illumina TruGenome Clinical Sequencing Services Radboud University Medical Center, Nijmegen UKGTN Phenotypes Fanconi Anemia {Breast-ovarian cancer, familial, 2}, 612555Fanconi anemia, complementation group D1, 605724Prostate cancer, 176807{Breast cancer, male, susceptibility to}, 114480Wilms tumor, 194070{Medulloblastoma}, 155255{Glioblastoma 3}, 613029{Pre-B-cell acute lymphoblastic leukemia}Pancreatic cancer, 613347 Tags
Green Green List (high evidence)	BRIP1	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Illumina TruGenome Clinical Sequencing Services Radboud University Medical Center, Nijmegen UKGTN Phenotypes Fanconi Anemia ?Breast cancer, early-onset, 114480Fanconi anemia, complementation group J, 609054 Tags
Green Green List (high evidence)	CDAN1	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Eligibility statement prior genetic testing Illumina TruGenome Clinical Sequencing Services Radboud University Medical Center, Nijmegen UKGTN Phenotypes Congenital Dyserythropoietic Anemia Anemia,congenitaldyserythropoietic,typeI,224120 Tags
Green Green List (high evidence)	FANCA	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Illumina TruGenome Clinical Sequencing Services Radboud University Medical Center, Nijmegen UKGTN Phenotypes Fanconi Anemia Fanconi anemia, complementation group A, 227650 Tags
Green Green List (high evidence)	FANCB	0 reviews	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	Sources Emory Genetics Laboratory Illumina TruGenome Clinical Sequencing Services Radboud University Medical Center, Nijmegen UKGTN Phenotypes Fanconi anemia Fanconi anemia, complementation group B, 300514 Fanconi Anemia, X-Linked Tags
Green Green List (high evidence)	FANCC	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Illumina TruGenome Clinical Sequencing Services Radboud University Medical Center, Nijmegen UKGTN Phenotypes Fanconi Anemia Fanconi anemia, complementation group C, 227645 Tags
Green Green List (high evidence)	FANCD2	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Illumina TruGenome Clinical Sequencing Services Radboud University Medical Center, Nijmegen UKGTN Phenotypes Fanconi Anemia Fanconi anemia, complementation group D2, 227646 Tags
Green Green List (high evidence)	FANCE	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Illumina TruGenome Clinical Sequencing Services Radboud University Medical Center, Nijmegen UKGTN Phenotypes Fanconi Anemia Fanconi anemia, complementation group E, 600901 Tags
Green Green List (high evidence)	FANCF	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Illumina TruGenome Clinical Sequencing Services Radboud University Medical Center, Nijmegen UKGTN Phenotypes Fanconi Anemia Fanconi anemia, complementation group F, 603467 Tags
Green Green List (high evidence)	FANCG	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Illumina TruGenome Clinical Sequencing Services Radboud University Medical Center, Nijmegen UKGTN Phenotypes Fanconi Anemia Fanconi anemia, complementation group G, 614082 Tags
Green Green List (high evidence)	FANCI	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Illumina TruGenome Clinical Sequencing Services Radboud University Medical Center, Nijmegen UKGTN Phenotypes Fanconi Anemia Fanconi anemia, complementation group I, 609053 Tags
Green Green List (high evidence)	FANCL	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Illumina TruGenome Clinical Sequencing Services Radboud University Medical Center, Nijmegen UKGTN Phenotypes Fanconi Anemia Fanconi anemia, complementation group L, 614083 Tags
Green Green List (high evidence)	G6PD	0 reviews	X-LINKED: hemizygous mutation in males, may be caused by monoallelic mutations in females	Sources Emory Genetics Laboratory Illumina TruGenome Clinical Sequencing Services Radboud University Medical Center, Nijmegen UKGTN Phenotypes Hemolytic anemia due to G6PD deficiencyFavism, 134700{Resistance to malaria due to G6PD deficiency}, 611162 Glucose-6-Phosphate Dehydrogenase Deficiency Tags
Green Green List (high evidence)	KLF1	0 reviews	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Illumina TruGenome Clinical Sequencing Services Radboud University Medical Center, Nijmegen UKGTN Phenotypes Congenital Dyserythropoietic Anemia Bloodgroup‐‐Lutheraninhibitor,111150[Hereditarypersistenceoffetalhemoglobin],613566Anemia,dyserythropoieticcongenital,typeIV,613673 Bloodgroup Lutheraninhibitor,111150[Hereditarypersistenceoffetalhemoglobin],613566Anemia,dyserythropoieticcongenital,typeIV,613673 Tags
Green Green List (high evidence)	PALB2	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Illumina TruGenome Clinical Sequencing Services Radboud University Medical Center, Nijmegen UKGTN Phenotypes Fanconi Anemia Fanconi anemia, complementation group N, 610832{Breast cancer, susceptibility to}, 114480{Pancreatic cancer, susceptibility to, 3}, 613348 Tags
Green Green List (high evidence)	RAD51C	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Illumina TruGenome Clinical Sequencing Services Radboud University Medical Center, Nijmegen UKGTN Phenotypes Fanconi Anemia Fanconi anemia, complementation group O, 613390{Breast-ovarian cancer, familial, susceptibility to, 3}, 613399 Tags
Green Green List (high evidence)	RPL11	0 reviews	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert list Illumina TruGenome Clinical Sequencing Services Radboud University Medical Center, Nijmegen UKGTN Phenotypes Diamond-Blackfan Anemia Diamond-Blackfan anemia 7, 612562 Diamond Blackfan anemia Tags
Green Green List (high evidence)	RPL35A	0 reviews	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert list Illumina TruGenome Clinical Sequencing Services Radboud University Medical Center, Nijmegen UKGTN Phenotypes Diamond-Blackfan Anemia Diamond-Blackfan anemia 5, 612528 Diamond Blackfan anemia Tags
Green Green List (high evidence)	RPL5	0 reviews	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert list Illumina TruGenome Clinical Sequencing Services Radboud University Medical Center, Nijmegen UKGTN Phenotypes Diamond-Blackfan Anemia Diamond-Blackfan anemia 6, 612561 Diamond Blackfan anemia Tags
Green Green List (high evidence)	RPS10	0 reviews	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert list Illumina TruGenome Clinical Sequencing Services Radboud University Medical Center, Nijmegen UKGTN Phenotypes Diamond-Blackfan Anemia Diamond-Blackfan anemia 9, 613308 Diamond Blackfan anemia Tags
Green Green List (high evidence)	RPS19	0 reviews	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert list Illumina TruGenome Clinical Sequencing Services Radboud University Medical Center, Nijmegen UKGTN Phenotypes Diamond-Blackfan Anemia Diamond-Blackfan anemia 1, 105650 Diamond Blackfan anemia Tags
Green Green List (high evidence)	RPS24	0 reviews	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert list Illumina TruGenome Clinical Sequencing Services Radboud University Medical Center, Nijmegen UKGTN Phenotypes Diamond-Blackfan Anemia Diamond-blackfan anemia 3, 610629 Diamond Blackfan anemia Tags
Green Green List (high evidence)	RPS26	0 reviews	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert list Illumina TruGenome Clinical Sequencing Services Radboud University Medical Center, Nijmegen UKGTN Phenotypes Diamond-Blackfan Anemia Diamond-Blackfan anemia 10, 613309 Diamond Blackfan anemia Tags
Green Green List (high evidence)	RPS7	0 reviews	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert list Illumina TruGenome Clinical Sequencing Services Radboud University Medical Center, Nijmegen UKGTN Phenotypes Diamond-Blackfan Anemia Diamond-Blackfan anemia 8, 612563 Diamond Blackfan anemia Tags
Green Green List (high evidence)	SEC23B	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Emory Genetics Laboratory Illumina TruGenome Clinical Sequencing Services Radboud University Medical Center, Nijmegen UKGTN Phenotypes Congenital dyserythropoietic anemia type II Congenital Dyserythropoietic Anemia Anemia,dyserythropoieticcongenital,typeII,224100 Tags
Green Green List (high evidence)	SLC25A38	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Eligibility statement prior genetic testing Illumina TruGenome Clinical Sequencing Services Radboud University Medical Center, Nijmegen UKGTN Phenotypes Anemia, sideroblastic, pyridoxine-refractory, autosomal recessive, 205950 Hereditary Sideroblastic Anemia Sideroblastic anaemia Tags
Green Green List (high evidence)	SLX4	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Illumina TruGenome Clinical Sequencing Services Radboud University Medical Center, Nijmegen UKGTN Phenotypes Fanconi Anemia Fanconi anemia, complementation group P, 613951 Tags
Green Green List (high evidence)	TMPRSS6	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Illumina TruGenome Clinical Sequencing Services Radboud University Medical Center, Nijmegen UKGTN Phenotypes Iron-Refractory Iron Deficiency Anemia Iron‐refractoryirondeficiencyanemia,206200 Iron refractoryirondeficiencyanemia,206200 Tags
Amber Amber List (moderate evidence)	ABCB7	0 reviews	X-LINKED: hemizygous mutation in males, may be caused by monoallelic mutations in females	Sources Illumina TruGenome Clinical Sequencing Services Radboud University Medical Center, Nijmegen Phenotypes Sideroblastic Anemia and Ataxia Anemia, sideroblastic, with ataxia, 301310 Tags
Amber Amber List (moderate evidence)	BAAT	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Illumina TruGenome Clinical Sequencing Services Radboud University Medical Center, Nijmegen Phenotypes Hypercholanemia, familial, 607748 Hypercholanemia Tags
Amber Amber List (moderate evidence)	COX4I2	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Illumina TruGenome Clinical Sequencing Services Radboud University Medical Center, Nijmegen Phenotypes Exocrine Pancreatic Insufficiency, Dyserythropoietic Anemia, andCalvarial Hyperostosis Exocrine pancreatic insufficiency, dyserythropoietic anemia, and calvarial hyperostosis, 612714 Tags
Amber Amber List (moderate evidence)	CUBN	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Illumina TruGenome Clinical Sequencing Services Radboud University Medical Center, Nijmegen Phenotypes Megaloblastic anemia-1, Finnish type, 261100 Megaloblastic Anemia Tags
Amber Amber List (moderate evidence)	ERCC4	0 reviews	Not set	Sources Radboud University Medical Center, Nijmegen UKGTN Phenotypes Fanconi anemia, complementation group Q, 615272Xeroderma pigmentosum, type F/Cockayne syndrome, 278760 Tags
Amber Amber List (moderate evidence)	GATA1	0 reviews	Not set	Sources Eligibility statement prior genetic testing Radboud University Medical Center, Nijmegen UKGTN Phenotypes Thrombocytopenia,X‐linked,withorwithoutdyserythropoieticanemia,300367Leukemia,megakaryoblastic,withorwithoutDownsyndrome,somatic,190685Thrombocytopeniawithbeta‐thalassemia,X‐linked,314050Anemia,X‐linked,with/withoutneutropeniaand/orplateletabnormalities,300835 Congenital Dyserythropoietic Anemia Thrombocytopenia,X linked,withorwithoutdyserythropoieticanemia,300367Leukemia,megakaryoblastic,withorwithoutDownsyndrome,somatic,190685Thrombocytopeniawithbeta thalassemia,X linked,314050Anemia,X linked,with/withoutneutropeniaand/orplateletabnormalities,300835 Tags
Amber Amber List (moderate evidence)	PUS1	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Illumina TruGenome Clinical Sequencing Services Radboud University Medical Center, Nijmegen Phenotypes Myopathy, Lactic Acidosis, and Sideroblastic Anemia Mitochondrialmyopathyandsideroblasticanemia1,600462 Tags
Amber Amber List (moderate evidence)	RPS17	0 reviews	Not set	Sources Expert list Radboud University Medical Center, Nijmegen UKGTN Phenotypes Diamond-Blackfan anemia 4, 612527 Diamond Blackfan anemia Tags
Amber Amber List (moderate evidence)	SLC11A2	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Illumina TruGenome Clinical Sequencing Services UKGTN Phenotypes Hypochromic Microcytic Anemia with Iron Overload Tags
Amber Amber List (moderate evidence)	SLC19A2	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Illumina TruGenome Clinical Sequencing Services Radboud University Medical Center, Nijmegen Phenotypes Thiamine-Responsive Megaloblastic Anemia Thiamine‐responsivemegaloblasticanemiasyndrome,249270 Thiamine responsivemegaloblasticanemiasyndrome,249270 Tags
Amber Amber List (moderate evidence)	TERT	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Illumina TruGenome Clinical Sequencing Services UKGTN Phenotypes Aplastic Anemia Tags
Amber Amber List (moderate evidence)	YARS2	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Illumina TruGenome Clinical Sequencing Services Radboud University Medical Center, Nijmegen Phenotypes Hereditary Sideroblastic Anemia with Myopathy and Lactic Acidosis Myopathy,lacticacidosis,andsideroblasticanemia2,613561 Tags
Red Red List (low evidence)	AK1	0 reviews	Not set	Sources Radboud University Medical Center, Nijmegen Phenotypes Hemolytic anemia due to adenylate kinase deficiency, 612631 Tags
Red Red List (low evidence)	AMN	0 reviews	Not set	Sources Radboud University Medical Center, Nijmegen Phenotypes Megaloblastic anemia-1, Norwegian type, 261100 Tags
Red Red List (low evidence)	C15orf41	1 review	Not set	Sources Eligibility statement prior genetic testing Expert Review Red UKGTN Phenotypes Congenital Dyserythropoietic Anemia Tags new-gene-name
Red Red List (low evidence)	CD59	0 reviews	Not set	Sources Radboud University Medical Center, Nijmegen Phenotypes Hemolytic anemia, CD59-mediated, with or without immune-mediated polyneuropathy, 612300 Tags
Red Red List (low evidence)	DHFR	0 reviews	Not set	Sources Radboud University Medical Center, Nijmegen Phenotypes Megaloblastic anemia due to dihydrofolate reductase deficiency, 613839 Tags
Red Red List (low evidence)	DKC1	0 reviews	Not set	Sources UKGTN Tags
Red Red List (low evidence)	EPHX1	0 reviews	Not set	Sources Radboud University Medical Center, Nijmegen Phenotypes ?Fetal hydantoin syndromeDiphenylhydantoin toxicityHypercholanemia, familial, 607748{Preeclampsia, susceptibility to}, 189800 Tags
Red Red List (low evidence)	FANCM	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Illumina TruGenome Clinical Sequencing Services Radboud University Medical Center, Nijmegen UKGTN Phenotypes Fanconi Anemia Fanconi anemia, complementation group M, 614087 Tags
Red Red List (low evidence)	GCLC	0 reviews	Not set	Sources Radboud University Medical Center, Nijmegen Phenotypes Hemolytic anemia due to gamma-glutamylcysteine synthetase deficiency, 230450{Myocardial infarction, susceptibility to}, 608446 Tags
Red Red List (low evidence)	GLRX5	0 reviews	Not set	Sources Radboud University Medical Center, Nijmegen Phenotypes Anemia, sideroblastic, pyridoxine-refractory, autosomal recessive, 205950 Tags
Red Red List (low evidence)	GPI	0 reviews	Not set	Sources Radboud University Medical Center, Nijmegen Phenotypes Hemolytic anemia, nonspherocytic, due to glucose phosphate isomerase deficiency, 613470 Tags
Red Red List (low evidence)	GPX1	0 reviews	Not set	Sources Radboud University Medical Center, Nijmegen Phenotypes Hemolytic anemia due to glutathione peroxidase deficiency, 614164 Tags
Red Red List (low evidence)	GSS	0 reviews	Not set	Sources Radboud University Medical Center, Nijmegen Phenotypes Hemolytic anemia due to glutathione synthetase deficiency, 231900Glutathione synthetase deficiency, 266130 Tags
Red Red List (low evidence)	HBA1	0 reviews	Not set	Sources Radboud University Medical Center, Nijmegen Phenotypes 5'‐zeta‐pseudozeta‐pseudoalpha‐alpha‐2‐alpha‐1‐3'Thalassemias,alpha‐,604131Methemoglobinemias,alpha‐ Erythremias,alpha‐ Heinzbodyanemias,alpha‐,140700HemoglobinHdisease,nondeletional,613978 5' zeta pseudozeta pseudoalpha alpha 2 alpha 1 3'Thalassemias,alpha ,604131Methemoglobinemias,alpha Erythremias,alpha Heinzbodyanemias,alpha ,140700HemoglobinHdisease,nondeletional,613978 Tags
Red Red List (low evidence)	HBA2	0 reviews	Not set	Sources Radboud University Medical Center, Nijmegen Phenotypes Thalassemia,alpha‐,604131Heinzbodyanemia,140700ErythrocytosisHypochromicmicrocyticanemiaHemoglobinHdisease,nondeletional,613978 Thalassemia,alpha ,604131Heinzbodyanemia,140700ErythrocytosisHypochromicmicrocyticanemiaHemoglobinHdisease,nondeletional,613978 Tags
Red Red List (low evidence)	HBB	0 reviews	Not set	Sources Radboud University Medical Center, Nijmegen Phenotypes Sicklecellanemia,603903Thalassemias,beta‐,613985Erythremias,beta‐ Methemoglobinemias,beta‐ Heinzbodyanemias,beta‐,140700Thalassemia‐beta,dominantinclusion‐body,603902Hereditarypersistenceoffetalhemoglobin,141749Delta‐betathalassemia,141749{Malaria,resistanceto},611162 Sicklecellanemia,603903Thalassemias,beta ,613985Erythremias,beta Methemoglobinemias,beta Heinzbodyanemias,beta ,140700Thalassemia beta,dominantinclusion body,603902Hereditarypersistenceoffetalhemoglobin,141749Delta betathalassemia,141749{Malaria,resistanceto},611162 Tags
Red Red List (low evidence)	HBD	0 reviews	Not set	Sources Radboud University Medical Center, Nijmegen Phenotypes Thalassemia,delta‐ ThalassemiaduetoHbLepore Thalassemia,delta ThalassemiaduetoHbLepore Tags
Red Red List (low evidence)	HEPH	0 reviews	Not set	Sources UKGTN Tags
Red Red List (low evidence)	HK1	0 reviews	Not set	Sources Radboud University Medical Center, Nijmegen Phenotypes Hemolytic anemia due to hexokinase deficiency, 235700Neuropathy, hereditary motor and sensory, Russe type, 605285 Tags
Red Red List (low evidence)	IFNG	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Illumina TruGenome Clinical Sequencing Services Phenotypes Aplastic Anemia Tags
Red Red List (low evidence)	KIF23	0 reviews	Not set	Sources UKGTN Tags
Red Red List (low evidence)	MTR	0 reviews	Not set	Sources Radboud University Medical Center, Nijmegen Phenotypes Homocystinuria-megaloblastic anemia, cblG complementation type, 250940 {Neural tube defects, folate-sensitive, susceptibility to}, 601634 Tags
Red Red List (low evidence)	MTRR	0 reviews	Not set	Sources Radboud University Medical Center, Nijmegen Phenotypes Homocystinuria-megaloblastic anemia, cbl E type, 236270{Neural tube defects, folate-sensitive, susceptibility to}, 601634 Tags
Red Red List (low evidence)	NHP2	0 reviews	Not set	Sources UKGTN Tags
Red Red List (low evidence)	NOP10	0 reviews	Not set	Sources UKGTN Tags
Red Red List (low evidence)	NT5C3A	0 reviews	Not set	Sources UKGTN Tags
Red Red List (low evidence)	PKLR	0 reviews	Not set	Sources UKGTN Tags
Red Red List (low evidence)	RHAG	0 reviews	Not set	Sources Radboud University Medical Center, Nijmegen Phenotypes Anemia,hemolytic,Rh‐null,regulatortype,268150Rh‐modsyndrome Anemia,hemolytic,Rh null,regulatortype,268150Rh modsyndrome Tags
Red Red List (low evidence)	RPL19	0 reviews	Not set	Sources UKGTN Tags
Red Red List (low evidence)	RPL26	0 reviews	Not set	Sources Expert list UKGTN Phenotypes Diamond Blackfan anemia Tags
Red Red List (low evidence)	RPL27	0 reviews	Not set	Sources UKGTN Tags
Red Red List (low evidence)	RPL9	0 reviews	Not set	Sources UKGTN Tags
Red Red List (low evidence)	RPS14	0 reviews	Not set	Sources Radboud University Medical Center, Nijmegen Phenotypes Macrocyticanemia,refractory,dueto5qdeletion,somatic,153550 ‐3 Macrocyticanemia,refractory,dueto5qdeletion,somatic,153550 3 Tags
Red Red List (low evidence)	RPS27	0 reviews	Not set	Sources UKGTN Tags
Red Red List (low evidence)	RPS29	0 reviews	Not set	Sources Expert list UKGTN Phenotypes Diamond Blackfan anemia Tags
Red Red List (low evidence)	SBDS	0 reviews	Not set	Sources UKGTN Tags
Red Red List (low evidence)	SLC4A1	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Illumina TruGenome Clinical Sequencing Services Phenotypes Hemolytic Anemia Tags
Red Red List (low evidence)	TCN2	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Literature Phenotypes Transcobalamin II deficiency can have a presentation similar to severe combined immunodeficiency pancytopenia neutropenic colitis Agammaglobulinemia megaloblastic bone marrow thrombocytopenia neutropenia failure to thrive hypotonia, myoclonic like movements, pallor, purpura, anaemia, thrombocytopenia, megaloblastosis, aplastic bone marrow. Tags
Red Red List (low evidence)	TERC	1 review	Not set	Sources UKGTN Tags locus-type-rna-misc
Red Red List (low evidence)	TF	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources UKGTN Tags
Red Red List (low evidence)	TINF2	0 reviews	Not set	Sources UKGTN Tags
Red Red List (low evidence)	TPI1	0 reviews	Not set	Sources Radboud University Medical Center, Nijmegen Phenotypes Hemolytic anemia due to triosephosphate isomerase deficiency Tags

Congenital anaemias (Version 0.99)

4 reviewers

83 Entities

4 reviewed, 29 green

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