Anaemias and red cell disorders (Version 0.38)

This Panel is marked as Internal

Description

This is a combined panel for anaemias and red cell disorders.

This includes the disorders: 
- Apparent aplastic anaemia or paroxysmal nocturnal haemoglobinuria
- Congenital anaemias
- Early onset pancytopenia and red cell disorders

See individual eligibility statements for these disorders, available here: https://www.genomicsengland.co.uk/information-for-gmc-staff/rare-disease-documents/

This panel includes BRIDGE consortium Tier 1 genes from NIHR BioResource – Rare Diseases Study (NIHRBR-RD) sent by Karyn Megy, WGS Clinical Feedback Lead and incorporates pertinent genes associated to SMD (Stem Cell and Myeloid Disorders) and RBC (Red Blood Cell disorders)

The following experts from the BRIDGE consortium NIHRBR-RD contributed to this panel :

Professor Irene Roberts, University of Oxford
Dr Noemi Roy, University of Oxford
Dr Eleni Louka, University of Oxford
Louise Daugherty, NIHR BioResource - Rare Diseases, Cambridge University Hospitals NHS Foundation Trust

Panel Activity

8 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
Rebecca Foulger (Genomics England curator)

Group: Other
Workplace: Other
Louise Daugherty (Genomics England Curator)

Group: Other
Workplace: Other
BRIDGE consortium (NIHRBR-RD)

Group: Other
Workplace: Other
Helen Brittain (Genomics England Curator)

Group: Other
Workplace: Other
Catherine Snow (Genomics England)

Group: Other
Workplace: Other

202 Entities

163 reviewed, 41 green

List	Entity	Reviews	Mode of inheritance	Details
Filter Entities 202 Entitiess
Green Green List (high evidence)	ALAS2	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 Eligibility statement prior genetic testing Illumina TruGenome Clinical Sequencing Services UKGTN Phenotypes Anemia, sideroblastic, X-linked, 300751Protoporphyria, erythropoietic, X-linked, 300752 Sideroblastic Anemia and Ataxia Sideroblastic anaemia ANEMIA, HEREDITARYSIDEROBLASTIC X-linked Tags
Green Green List (high evidence)	BRCA2	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Illumina TruGenome Clinical Sequencing Services 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 Fanconi anemia {Breast-ovarian cancer, familial, 2}, 612555 Fanconi anemia, complementation group D1, 605724 Prostate cancer, 176807 {Breast cancer, male, susceptibility to}, 114480 Wilms tumor, 194070 {Medulloblastoma}, 155255 {Glioblastoma 3}, 613029 Pancreatic cancer, 613347 Fanconi Anaemia Tags
Green Green List (high evidence)	BRIP1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Illumina TruGenome Clinical Sequencing Services UKGTN Phenotypes Fanconi Anemia ?Breast cancer, early-onset, 114480Fanconi anemia, complementation group J, 609054 Fanconi anemia ?Breast cancer, early-onset, 114480 Fanconi anemia, complementation group J, 609054 Fanconi Anaemia Tags
Green Green List (high evidence)	CDAN1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Eligibility statement prior genetic testing Illumina TruGenome Clinical Sequencing Services UKGTN Phenotypes Congenital Dyserythropoietic Anemia Anemia,congenitaldyserythropoietic,typeI,224120 ANEMIA, CONGENITAL DYSERYTHROPOIETIC, TYPE I Tags
Green Green List (high evidence)	DKC1	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 Eligibility statement prior genetic testing Emory Genetics Laboratory Expert list Radboud University Medical Center, Nijmegen UKGTN Phenotypes Dyskeratosis congenita Dyskeratosis congenita, X-linked, 305000 Dyskeratosis Congenita, X-linked DYSKERATOSIS CONGENITA, X-LINKED Inherited Bone Marrow Failure Syndromes Tags
Green Green List (high evidence)	FANCA	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Illumina TruGenome Clinical Sequencing Services UKGTN Phenotypes Fanconi Anemia Fanconi anemia, complementation group A, 227650 Fanconi anemia Fanconi Anaemia Tags
Green Green List (high evidence)	FANCB	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 Emory Genetics Laboratory Expert list Illumina TruGenome Clinical Sequencing Services Radboud University Medical Center, Nijmegen UKGTN Phenotypes Fanconi anemia Fanconi anemia, complementation group B, 300514 Fanconi Anemia, X-Linked Fanconi Anemia Type B Fanconi Anaemia Tags
Green Green List (high evidence)	FANCC	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Illumina TruGenome Clinical Sequencing Services UKGTN Phenotypes Fanconi Anemia Fanconi anemia, complementation group C, 227645 Fanconi anemia Fanconi Anaemia Tags
Green Green List (high evidence)	FANCD2	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Illumina TruGenome Clinical Sequencing Services UKGTN Phenotypes Fanconi Anemia Fanconi anemia, complementation group D2, 227646 Fanconi anemia Fanconi Anaemia Tags
Green Green List (high evidence)	FANCE	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Illumina TruGenome Clinical Sequencing Services UKGTN Phenotypes Fanconi Anemia Fanconi anemia, complementation group E, 600901 Fanconi anemia Fanconi Anaemia Tags
Green Green List (high evidence)	FANCF	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Illumina TruGenome Clinical Sequencing Services UKGTN Phenotypes Fanconi Anemia Fanconi anemia, complementation group F, 603467 Fanconi anemia Fanconi Anaemia Tags
Green Green List (high evidence)	FANCG	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Illumina TruGenome Clinical Sequencing Services UKGTN Phenotypes Fanconi Anemia Fanconi anemia, complementation group G, 614082 Fanconi anemia Fanconi Anaemia Tags
Green Green List (high evidence)	FANCI	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Illumina TruGenome Clinical Sequencing Services UKGTN Phenotypes Fanconi Anemia Fanconi anemia, complementation group I, 609053 Fanconi anemia Fanconi Anaemia Tags
Green Green List (high evidence)	FANCL	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Illumina TruGenome Clinical Sequencing Services UKGTN Phenotypes Fanconi Anemia Fanconi anemia, complementation group L, 614083 Fanconi anemia Fanconi Anaemia Tags
Green Green List (high evidence)	G6PC3	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Illumina TruGenome Clinical Sequencing Services Radboud University Medical Center, Nijmegen UKGTN Phenotypes Inherited Bone Marrow Failure Syndromes - Neutropenia Severe congenital neutropenic Neutropenia, Severe Congenital, 4 Autosomal Dominant Neutropenia, severe congenital 4, autosomal recessive, 612541Dursun syndrome, 612541 Severe Congenital Neutropenia 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 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 Hemolytic anemia due to G6PD deficiency Tags
Green Green List (high evidence)	GATA2	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert list Illumina TruGenome Clinical Sequencing Services Radboud University Medical Center, Nijmegen UKGTN Phenotypes Inherited Bone Marrow Failure Syndromes - GATA2 deficiencies Familial MDS (Myelodysplastic syndromes) Dendritic cell, monocyte, B lymphocyte, and natural killer lymphocyte deficiency, 614172 Emberger syndrome, 614038 {Myelodysplastic syndrome, susceptibility to}, 614286 {Leukemia, acute myeloid, susceptibility to}, 601626 Primary Lymphedema with Myelodysplasia Immunodeficiency 21 Leukemia, Acute Myeloid Lymphedema, Primary, With Myelodysplasia Myelodysplastic Syndrome Dendritic Cell, Monocyte, B Lymphocyte, And Natural Killer Lymphocyte Deficiency Tags
Green Green List (high evidence)	GFI1	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert list Illumina TruGenome Clinical Sequencing Services Radboud University Medical Center, Nijmegen UKGTN Phenotypes Inherited Bone Marrow Failure Syndromes - Neutropenia Severe congenital neutropenic Neutropenia, Severe Congenital, 2 Autosomal Dominant Neutropenia, Nonimmune Chronic Idiopathic, Of Adults Neutropenia, severe congenital 2, autosomal dominant, 613107 Tags
Green Green List (high evidence)	HAX1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Illumina TruGenome Clinical Sequencing Services Radboud University Medical Center, Nijmegen UKGTN Phenotypes Inherited Bone Marrow Failure Syndromes - Neutropenia Severe congenital neutropenic Neutropenia, Severe Congenital, 3 Autosomal Dominant Neutropenia, severe congenital 3, autosomal recessive, 610738 Tags
Green Green List (high evidence)	KLF1	1 review 1 green	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 Anemia, dyserythropoietic congenital, type IV Tags
Green Green List (high evidence)	MPL	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Illumina TruGenome Clinical Sequencing Services Radboud University Medical Center, Nijmegen UKGTN Phenotypes Inherited Bone Marrow Failure Syndromes - Thrombocytopenia Congenital amegkaryocytic thrombocytopenia Congenital Amegakaryocytic Thrombocytopenia Amegakaryocytic Thrombocytopenia, Congenital Tags
Green Green List (high evidence)	NHP2	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Illumina TruGenome Clinical Sequencing Services Radboud University Medical Center, Nijmegen UKGTN Phenotypes Inherited Bone Marrow Failure Syndromes Dyskeratosis congenita Dyskeratosis congenita, autosomal recessive 2, 613987 Dyskeratosis Congenita, Recessive Dyskeratosis Congenita, Autosomal Recessive, 2 DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE, 2 Tags
Green Green List (high evidence)	NOP10	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Illumina TruGenome Clinical Sequencing Services Radboud University Medical Center, Nijmegen UKGTN Phenotypes Inherited Bone Marrow Failure Syndromes Dyskeratosis congenita Dyskeratosis congenita, autosomal recessive 1, 224230 Dyskeratosis Congenita, Recessive Dyskeratosis Congenita, Autosomal Recessive, 1 DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE, 1 Tags
Green Green List (high evidence)	PALB2	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Illumina TruGenome Clinical Sequencing Services UKGTN Phenotypes Fanconi Anemia Fanconi anemia, complementation group N, 610832{Breast cancer, susceptibility to}, 114480{Pancreatic cancer, susceptibility to, 3}, 613348 Fanconi anemia Fanconi anemia, complementation group N, 610832 {Breast cancer, susceptibility to}, 114480 {Pancreatic cancer, susceptibility to, 3}, 613348 Fanconi Anaemia Tags
Green Green List (high evidence)	RPL11	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert list Illumina TruGenome Clinical Sequencing Services Radboud University Medical Center, Nijmegen UKGTN Phenotypes Inherited Bone Marrow Failure Syndromes Diamond Blackfan anemia Diamond-Blackfan Anemia Diamond-Blackfan anemia 7, 612562 Diamond_Blackfan Anemia 7 DIAMOND-BLACKFAN ANEMIA 7 Tags
Green Green List (high evidence)	RPL35A	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert list Illumina TruGenome Clinical Sequencing Services Radboud University Medical Center, Nijmegen UKGTN Phenotypes Inherited Bone Marrow Failure Syndromes Diamond Blackfan anemia Diamond-Blackfan Anemia Diamond-Blackfan anemia 5, 612528 Diamond_Blackfan Anemia 5 DIAMOND-BLACKFAN ANEMIA 5 Tags
Green Green List (high evidence)	RPL5	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert list Illumina TruGenome Clinical Sequencing Services Radboud University Medical Center, Nijmegen UKGTN Phenotypes Inherited Bone Marrow Failure Syndromes Diamond Blackfan anemia Diamond-Blackfan Anemia Diamond-Blackfan anemia 6, 612561 Diamond_Blackfan Anemia 6 DIAMOND-BLACKFAN ANEMIA 6 Tags
Green Green List (high evidence)	RPS10	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert list Illumina TruGenome Clinical Sequencing Services Radboud University Medical Center, Nijmegen UKGTN Phenotypes Inherited Bone Marrow Failure Syndromes Diamond Blackfan anemia Diamond-Blackfan Anemia Diamond-Blackfan anemia 9, 613308 Diamond_Blackfan Anemia 9 DIAMOND-BLACKFAN ANEMIA 9 Tags
Green Green List (high evidence)	RPS19	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert list Illumina TruGenome Clinical Sequencing Services Radboud University Medical Center, Nijmegen UKGTN Phenotypes Inherited Bone Marrow Failure Syndromes Diamond Blackfan anemia Diamond-Blackfan Anemia Diamond-Blackfan anemia 1, 105650 Diamond_Blackfan Anemia DIAMOND-BLACKFAN ANEMIA 1 Tags
Green Green List (high evidence)	RPS24	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert list Illumina TruGenome Clinical Sequencing Services Radboud University Medical Center, Nijmegen UKGTN Phenotypes Inherited Bone Marrow Failure Syndromes Diamond Blackfan anemia Diamond-Blackfan Anemia Diamond-blackfan anemia 3, 610629 Diamond_Blackfan Anemia 3 DIAMOND-BLACKFAN ANEMIA 3 Tags
Green Green List (high evidence)	RPS26	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert list Illumina TruGenome Clinical Sequencing Services Radboud University Medical Center, Nijmegen UKGTN Phenotypes Inherited Bone Marrow Failure Syndromes Diamond Blackfan anemia Diamond-Blackfan Anemia Diamond-Blackfan anemia 10, 613309 Diamond_Blackfan Anemia 10 Diamond-Blackfan anemia 10 Tags
Green Green List (high evidence)	RPS7	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert list Illumina TruGenome Clinical Sequencing Services Radboud University Medical Center, Nijmegen UKGTN Phenotypes Inherited Bone Marrow Failure Syndromes Diamond Blackfan anemia Diamond-Blackfan Anemia Diamond-Blackfan anemia 8, 612563 Diamond_Blackfan Anemia 8 DIAMOND-BLACKFAN ANEMIA 8 Tags
Green Green List (high evidence)	SEC23B	1 review 1 green	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 ANEMIA, DYSERYTHROPOIETIC CONGENITAL, TYPE II Tags
Green Green List (high evidence)	SLC25A38	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Eligibility statement prior genetic testing Radboud University Medical Center, Nijmegen UKGTN Phenotypes Anemia, sideroblastic, pyridoxine-refractory, autosomal recessive, 205950 Hereditary Sideroblastic Anemia Sideroblastic anaemia ANEMIA, SIDEROBLASTIC, PYRIDOXINE-REFRACTORY, AUTOSOMAL RECESSIVE Tags
Green Green List (high evidence)	SLX4	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Illumina TruGenome Clinical Sequencing Services UKGTN Phenotypes Fanconi Anemia Fanconi anemia, complementation group P, 613951 Fanconi anemia Fanconi Anaemia Tags
Green Green List (high evidence)	SRP72	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert list Illumina TruGenome Clinical Sequencing Services Radboud University Medical Center, Nijmegen UKGTN Phenotypes Inherited Bone Marrow Failure Syndromes - Aplastic Anaemia Bone Marrow Failure, Familial Bone marrow failure, familial, 614675 Familial Bone Marrow Failure Familial MDS (Myelodysplastic syndromes) Bone Marrow Failure, Familial Tags
Green Green List (high evidence)	TCN2	3 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green 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
Green Green List (high evidence)	TERT	2 reviews 1 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Eligibility statement prior genetic testing Expert list Illumina TruGenome Clinical Sequencing Services Radboud University Medical Center, Nijmegen UKGTN Phenotypes Aplastic Anemia {Bone marrow failure, telomere-related, 1}, 614742 {Dyskeratosis congenita, autosomal recessive 4}, 613989 {Dyskeratosis congenita, autosomal dominant 2}, 613989 {Coronary artery disease} {Pulmonary fibrosis, telomere-related, 1}, 614742 {Leukemia, acute myeloid}, 601626 {Melanoma, cutaneous malignant, 9}, 615134 Inherited Bone Marrow Failure Syndromes Inherited Bone Marrow Failure Syndromes - Aplastic Anaemia Telomere Related Pulmonary Fibrosis And/Or Bone Marrow Failure 1 Dyskeratosis congenita {Bone marrow failure, telomere-related, 1}, 614742 {Dyskeratosis congenita, autosomal recessive 4}, 613989 {Dyskeratosis congenita, autosomal dominant 2}, 613989 {Coronary artery disease {Pulmonary fibrosis, telomere-related, 1}, 614742 {Melanoma, cutaneous malignant, 9}, 615134 Dyskeratosis Congenita, Recessive Dyskeratosis Congenita, Autosomal Dominant, 2 Telomere-Related Pulmonary Fibrosis And/Or Bone Marrow Failure-2 Bone marrow failure, telomere-related, 1 Tags
Green Green List (high evidence)	TINF2	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Illumina TruGenome Clinical Sequencing Services Radboud University Medical Center, Nijmegen UKGTN Phenotypes Inherited Bone Marrow Failure Syndromes Inherited Bone Marrow Failure Syndromes - Aplastic Anaemia Revesz Syndrome Dyskeratosis congenita, autosomal dominant 3, 613990 Revesz syndrome, 268130 Revesz Syndrome Dyskeratosis congenita Dyskeratosis Congenita, Dominant Dyskeratosis Congenita, Autosomal Dominant, 3 DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT, 3 Tags
Green Green List (high evidence)	TMPRSS6	1 review 1 green	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 Tags
Green Green List (high evidence)	WRAP53	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Illumina TruGenome Clinical Sequencing Services Radboud University Medical Center, Nijmegen UKGTN Phenotypes Inherited Bone Marrow Failure Syndromes Dyskeratosis congenita Dyskeratosis congenita, autosomal recessive 3, 613988 Dyskeratosis Congenita, Recessive Dyskeratosis Congenita, Autosomal Recessive, 3 Tags
Amber Amber List (moderate evidence)	ABCB7	2 reviews 2 green	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	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)	ANKRD26	0 reviews	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert list Illumina TruGenome Clinical Sequencing Services Radboud University Medical Center, Nijmegen Phenotypes Thrombocytopenia 2, 188000 Congenital amegkaryocytic thrombocytopenia 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)	CTC1	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Illumina TruGenome Clinical Sequencing Services UKGTN Phenotypes Inherited Bone Marrow Failure Syndromes Dyskeratosis congenita Dyskeratosis Congenita, Recessive Cerebroretinal microangiopathy with calcifications and cysts/CTC1 related Dyskeratosis Congenita 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)	CYCS	0 reviews	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Illumina TruGenome Clinical Sequencing Services Radboud University Medical Center, Nijmegen Phenotypes Thrombocytopenia 4, 612004 Tags
Amber Amber List (moderate evidence)	ELANE	2 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert list Radboud University Medical Center, Nijmegen UKGTN Phenotypes Cyclic Neutropenia (AD) Neutropenia, Severe Congital 1, Autosomal Dominant Severe congenital neutropenic Neutropenia, Severe Congenital, 1 Autosomal Dominant Cyclic Neutropenia Neutropenia, cyclic, 162800Neutropenia, severe congenital 1, autosomal dominant, 202700 Tags
Amber Amber List (moderate evidence)	GATA1	2 reviews 2 green	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	Sources Eligibility statement prior genetic testing Radboud University Medical Center, Nijmegen UKGTN Phenotypes Thrombocytopenia, X-linked, with or without dyserythropoietic anemia, 300367 Congenital Dyserythropoietic Anemia Familial MDS (Myelodysplastic syndromes) Anemia, X-linked, with/without neutropenia and/or platelet abnormalities Inherited Bone Marrow Failure Syndromes 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)	MASTL	0 reviews	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Illumina TruGenome Clinical Sequencing Services Radboud University Medical Center, Nijmegen Phenotypes Thrombocytopenia 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)	RAD51C	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Amber Illumina TruGenome Clinical Sequencing Services UKGTN Phenotypes Fanconi Anemia Fanconi anemia, complementation group O, 613390{Breast-ovarian cancer, familial, susceptibility to, 3}, 613399 Fanconi anemia Fanconi anemia, complementation group O, 613390 {Breast-ovarian cancer, familial, susceptibility to, 3}, 613399 Fanconi Anaemia Tags watchlist
Amber Amber List (moderate evidence)	RBM8A	1 review	Not set	Sources Radboud University Medical Center, Nijmegen UKGTN Phenotypes Thrombocytopenia Absent-Radius Syndrome Tags
Amber Amber List (moderate evidence)	RPS17	2 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert list Radboud University Medical Center, Nijmegen UKGTN Phenotypes Inherited Bone Marrow Failure Syndromes Diamond Blackfan anemia Diamond-Blackfan anemia 4, 612527 Diamond_Blackfan Anemia 4 DIAMOND-BLACKFAN ANEMIA 4 Tags
Amber Amber List (moderate evidence)	RTEL1	2 reviews 2 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert list Radboud University Medical Center, Nijmegen UKGTN Phenotypes Dyskeratosis Congenita, Autosomal Dominant, 4 Dyskeratosis Congenita, Autosomal Recessive, 5 Dyskeratosis congenita Dyskeratosis congenita, autosomal recessive 5, 615190 Dyskeratosis congenita, autosomal dominant 4, 615190 Dyskeratosis Congenita, Autosomal Recessive, 5 Tags
Amber Amber List (moderate evidence)	SBDS	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Eligibility statement prior genetic testing Expert list Radboud University Medical Center, Nijmegen UKGTN Phenotypes Inherited Bone Marrow Failure Syndromes - Aplastic Anaemia Shwachman_Diamond Syndrome Shwachman-Bodian-Diamond syndrome Shwachman Diamond syndrome (SDS) Shwachman-Bodian-Diamond syndrome, 260400 Shwachman-Diamond Syndrome SHWACHMAN-DIAMOND SYNDROME Tags
Amber Amber List (moderate evidence)	SLC11A2	1 review 1 green	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 Tags
Amber Amber List (moderate evidence)	WAS	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 list Radboud University Medical Center, Nijmegen UKGTN Phenotypes Wiskott-Aldrich syndrome, 301000 Thrombocytopenia, X-linked, 313900Neutropenia, severe congenital, X-linked, 300299 Thrombocytopenia, X-linked, intermittent, 313900 Wiskot Aldrich syndrome Wiskott-Aldrich syndrome, 301000 Thrombocytopenia, X-linked, 313900 Neutropenia, severe congenital, X-linked, 300299 Thrombocytopenia, X-linked, intermittent, 313900 Neutropenia, Severe Congenital, X-Linked Thrombocytopenia 1 Wiskott-Aldrich Syndrome Inherited Bone Marrow Failure Syndromes - Neutropenia Inherited Bone Marrow Failure Syndromes - Thrombocytopenia 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)	ABL1	1 review 1 green	Unknown	Sources BRIDGE consortium (NIHRBR-RD) Phenotypes Chronic Myeloid Leukemia (CML) Tags
Red Red List (low evidence)	ACSL6	0 reviews	Not set	Sources Radboud University Medical Center, Nijmegen Phenotypes Myelodysplastic syndrome Myelogenous leukemia, acute Tags
Red Red List (low evidence)	ADAMTS13	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Illumina TruGenome Clinical Sequencing Services Phenotypes Familial Thrombotic Thrombocytopenia Purpura 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)	ALDOA	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources BRIDGE consortium (NIHRBR-RD) Phenotypes Enzyme Disorder Glycogen storage disease 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)	ANK1	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources BRIDGE consortium (NIHRBR-RD) Phenotypes RBC membrane abnormality Spherocytosis Tags
Red Red List (low evidence)	ANKRD34A	1 review	Not set	Sources UKGTN Phenotypes Thrombocytopenia Absent-Radius Syndrome Tags
Red Red List (low evidence)	ANKRD35	1 review	Not set	Sources UKGTN Phenotypes Thrombocytopenia Absent-Radius Syndrome Tags
Red Red List (low evidence)	ARHGAP26	1 review 1 green	Unknown	Sources BRIDGE consortium (NIHRBR-RD) Phenotypes Myelodysplastic syndrome (MDS), Paediatric Tags
Red Red List (low evidence)	ASXL1	1 review 1 green	Not set	Sources Radboud University Medical Center, Nijmegen Phenotypes Bohring-Opitz syndrome, 605039 Myelodysplastic syndrome, somatic, 614286 Tags
Red Red List (low evidence)	ATRX	1 review 1 green	Unknown	Sources BRIDGE consortium (NIHRBR-RD) Phenotypes Myelodysplastic syndrome (MDS), Adult Tags
Red Red List (low evidence)	BCOR	1 review 1 green	Unknown	Sources BRIDGE consortium (NIHRBR-RD) Phenotypes Acute myeloid leukaemia (AML) Tags
Red Red List (low evidence)	BCORL1	1 review 1 green	Unknown	Sources BRIDGE consortium (NIHRBR-RD) Phenotypes Acute myeloid leukaemia (AML) Tags
Red Red List (low evidence)	BRAF	1 review 1 green	Unknown	Sources BRIDGE consortium (NIHRBR-RD) Phenotypes Rasopathies Leukaemia Lymphoma Hairy cell leukemia (HCL) Tags
Red Red List (low evidence)	BRCA1	1 review 1 green	Unknown	Sources BRIDGE consortium (NIHRBR-RD) Phenotypes Fanconi anemia Tags
Red Red List (low evidence)	C15orf41	3 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Eligibility statement prior genetic testing UKGTN Phenotypes Congenital Dyserythropoietic Anemia N/A Tags new-gene-name
Red Red List (low evidence)	CALR	1 review 1 green	Unknown	Sources BRIDGE consortium (NIHRBR-RD) Phenotypes Myelofibrosis Essential thrombocythemia (ET) Tags
Red Red List (low evidence)	CBL	1 review 1 green	Unknown	Sources BRIDGE consortium (NIHRBR-RD) Phenotypes Myelodysplastic syndrome (MDS), Paediatric Tags
Red Red List (low evidence)	CBLB	1 review 1 green	Unknown	Sources BRIDGE consortium (NIHRBR-RD) Phenotypes Acute myeloid leukaemia (AML) Tags
Red Red List (low evidence)	CBLC	1 review 1 green	Unknown	Sources BRIDGE consortium (NIHRBR-RD) Phenotypes Chronic Myeloid Leukemia (CML) Tags
Red Red List (low evidence)	CD36	0 reviews	Not set	Sources Radboud University Medical Center, Nijmegen Phenotypes [Macrothrombocytopenia] (1) Tags
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)	CDKN2A	1 review 1 green	Unknown	Sources BRIDGE consortium (NIHRBR-RD) Phenotypes Acute lymphoblastic leukemia (ALL) Tags
Red Red List (low evidence)	CEBPA	2 reviews 1 green	Not set	Sources Expert list Phenotypes Familial MDS (Myelodysplastic syndromes) Tags
Red Red List (low evidence)	CSF3R	1 review 1 green	Not set	Sources Expert list Radboud University Medical Center, Nijmegen Phenotypes Severe congenital neutropenic Neutrophilia, hereditary, 162830 Tags
Red Red List (low evidence)	CUX1	1 review 1 green	Unknown	Sources BRIDGE consortium (NIHRBR-RD) Phenotypes Acute myeloid leukaemia (AML) Tags
Red Red List (low evidence)	CXCR4	1 review 1 green	Not set	Sources Expert list Radboud University Medical Center, Nijmegen Phenotypes WHIM sydrome WHIM syndrome, 193670 Myelokathexis, isolated 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)	DNMT3A	1 review 1 green	Unknown	Sources BRIDGE consortium (NIHRBR-RD) Phenotypes Myelodysplastic syndrome (MDS), Paediatric Tags
Red Red List (low evidence)	ENO1	1 review 1 green	Unknown	Sources BRIDGE consortium (NIHRBR-RD) Phenotypes Enzyme Disorder Enolase deficiency Tags
Red Red List (low evidence)	EPB41	1 review 1 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources BRIDGE consortium (NIHRBR-RD) Phenotypes RBC membrane abnormality Elliptocytosis Tags
Red Red List (low evidence)	EPB42	1 review 1 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources BRIDGE consortium (NIHRBR-RD) Phenotypes RBC membrane abnormality Elliptocytosis 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)	ERCC4	2 reviews 1 green	Not set	Sources Literature UKGTN Phenotypes Fanconi anemia, complementation group Q, 615272Xeroderma pigmentosum, type F/Cockayne syndrome, 278760 Xeroderma pigmentosum, group F, 278760 XFE progeroid syndrome, 610965 Fanconi anemia, complementation group Q, 615272 Xeroderma pigmentosum, type F/Cockayne syndrome, 278760 Fanconi Anaemia Tags
Red Red List (low evidence)	ERCC6L2	0 reviews	Not set	Sources Radboud University Medical Center, Nijmegen Phenotypes Bone marrow failure syndrome 2, 615715 (3) Tags
Red Red List (low evidence)	EZH2	1 review 1 green	Unknown	Sources BRIDGE consortium (NIHRBR-RD) Phenotypes Myelodysplastic syndrome (MDS), Paediatric Tags
Red Red List (low evidence)	FANCM	3 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Red Illumina TruGenome Clinical Sequencing Services UKGTN Phenotypes Fanconi Anemia Fanconi anemia, complementation group M, 614087 Fanconi anemia Fanconi Anaemia Tags drug-toxicity
Red Red List (low evidence)	FBXW7	1 review 1 green	Unknown	Sources BRIDGE consortium (NIHRBR-RD) Phenotypes Acute lymphoblastic leukemia (ALL) Tags
Red Red List (low evidence)	FCGR3B	0 reviews	Not set	Sources Radboud University Medical Center, Nijmegen Phenotypes Neutropenia,alloimmuneneonatal Tags
Red Red List (low evidence)	FLT3	1 review 1 green	Unknown	Sources BRIDGE consortium (NIHRBR-RD) Phenotypes Myelodysplastic syndrome (MDS), Paediatric Tags
Red Red List (low evidence)	GCLC	1 review 1 green	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)	GNAS	1 review 1 green	Unknown	Sources BRIDGE consortium (NIHRBR-RD) Phenotypes Acute myeloid leukaemia (AML) Tags
Red Red List (low evidence)	GNRHR2	1 review	Not set	Sources UKGTN Phenotypes Thrombocytopenia Absent-Radius Syndrome Tags locus-type-pseudogene
Red Red List (low evidence)	GPI	1 review 1 green	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	1 review 1 green	Not set	Sources Radboud University Medical Center, Nijmegen Phenotypes Hemolytic anemia due to glutathione peroxidase deficiency, 614164 Tags
Red Red List (low evidence)	GSR	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources BRIDGE consortium (NIHRBR-RD) Phenotypes Enzyme Disorder Hemolytic anemia due to glutathione reductase deficiency Tags
Red Red List (low evidence)	GSS	1 review 1 green	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	1 review 1 green	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 Tags
Red Red List (low evidence)	HBA2	1 review 1 green	Not set	Sources Radboud University Medical Center, Nijmegen Phenotypes Thalassemia,alpha ,604131Heinzbodyanemia,140700ErythrocytosisHypochromicmicrocyticanemiaHemoglobinHdisease,nondeletional,613978 Tags
Red Red List (low evidence)	HBB	1 review 1 green	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 Tags
Red Red List (low evidence)	HBD	0 reviews	Not set	Sources Radboud University Medical Center, Nijmegen Phenotypes Thalassemia,delta ThalassemiaduetoHbLepore Tags
Red Red List (low evidence)	HBG1	1 review 1 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources BRIDGE consortium (NIHRBR-RD) Phenotypes Globin Disorder Tags
Red Red List (low evidence)	HBG2	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources BRIDGE consortium (NIHRBR-RD) Phenotypes Globin Disorder Tags
Red Red List (low evidence)	HEPH	0 reviews	Not set	Sources UKGTN Tags
Red Red List (low evidence)	HFE2	2 reviews	Not set	Sources UKGTN Phenotypes Thrombocytopenia Absent-Radius Syndrome Tags new-gene-name
Red Red List (low evidence)	HK1	1 review 1 green	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)	HOXA11	0 reviews	Not set	Sources Expert list Radboud University Medical Center, Nijmegen Phenotypes Congenital amegkaryocytic thrombocytopenia Radioulnar synostosis with amegakaryocytic thrombocytopenia, 605432 -3 Tags
Red Red List (low evidence)	HRAS	1 review 1 green	Unknown	Sources BRIDGE consortium (NIHRBR-RD) Phenotypes Myelodysplastic syndrome (MDS), Adult Tags
Red Red List (low evidence)	IDH1	1 review 1 green	Unknown	Sources BRIDGE consortium (NIHRBR-RD) Phenotypes Acute myeloid leukaemia (AML) Tags
Red Red List (low evidence)	IDH2	1 review 1 green	Unknown	Sources BRIDGE consortium (NIHRBR-RD) Phenotypes Acute myeloid leukaemia (AML) 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)	IKZF1	1 review 1 green	Unknown	Sources BRIDGE consortium (NIHRBR-RD) Phenotypes Acute lymphoblastic leukemia (ALL) Tags
Red Red List (low evidence)	IRF1	0 reviews	Not set	Sources Radboud University Medical Center, Nijmegen Phenotypes Myelodysplastic syndrome, preleukemic Myelogenous leukemia, acute Gastric cancer, somatic, 613659 Nonsmall cell lung cancer, somatic, 211980 Tags
Red Red List (low evidence)	ITGA10	1 review	Not set	Sources UKGTN Phenotypes Thrombocytopenia Absent-Radius Syndrome Tags
Red Red List (low evidence)	ITGA2B	0 reviews	Not set	Sources Radboud University Medical Center, Nijmegen Phenotypes BAK platelet antigen Glanzmann thrombasthenia, 273800 Tags
Red Red List (low evidence)	ITGB3	0 reviews	Not set	Sources Radboud University Medical Center, Nijmegen Phenotypes PL(A) platelet antigen Glanzmann thrombasthenia, 273800 Tags
Red Red List (low evidence)	JAK2	1 review 1 green	Unknown	Sources BRIDGE consortium (NIHRBR-RD) Phenotypes Myeloproliferative neoplasms (MPN) Acute myeloid leukaemia (AML) Tags
Red Red List (low evidence)	JAK3	1 review 1 green	Unknown	Sources BRIDGE consortium (NIHRBR-RD) Phenotypes Myelodysplastic syndrome (MDS), Paediatric Tags
Red Red List (low evidence)	KDM6A	1 review 1 green	Unknown	Sources BRIDGE consortium (NIHRBR-RD) Phenotypes Acute myeloid leukaemia (AML) Tags
Red Red List (low evidence)	KIF23	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources UKGTN Phenotypes DYSERYTHROPOIETIC ANEMIA, CONGENITAL, TYPE III CDA III Tags
Red Red List (low evidence)	KIT	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources BRIDGE consortium (NIHRBR-RD) Phenotypes Acute myeloid leukaemia (AML) Tags
Red Red List (low evidence)	KMT2A	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources BRIDGE consortium (NIHRBR-RD) Phenotypes Acute myeloid leukaemia (AML) Tags
Red Red List (low evidence)	KRAS	1 review 1 green	Unknown	Sources BRIDGE consortium (NIHRBR-RD) Phenotypes Myelodysplastic syndrome (MDS), Paediatric Tags
Red Red List (low evidence)	LIX1L	1 review	Not set	Sources UKGTN Phenotypes Thrombocytopenia Absent-Radius Syndrome Tags
Red Red List (low evidence)	LPIN2	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources BRIDGE consortium (NIHRBR-RD) Phenotypes Microcytic anemia Congenital dyserythropoietic anemia (CDA) Majeed syndrome 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)	MYD88	1 review 1 green	Not set	Sources Radboud University Medical Center, Nijmegen Phenotypes Pyogenic bacterial infections, recurrent, due to MYD88 deficiency, 612260 Macroglobulinemia, Waldenstrom, somatic, 153600 Tags
Red Red List (low evidence)	MYH9	0 reviews	Not set	Sources Radboud University Medical Center, Nijmegen Phenotypes May-Hegglin anomaly, 155100Fechtner syndrome, 153640Sebastian syndrome, 605249Deafness, autosomal dominant 17, 603622Epstein syndrome, 153650Macrothrombocytopenia and progressive sensorineural deafness, 600208 Tags
Red Red List (low evidence)	NBN	0 reviews	Not set	Sources Radboud University Medical Center, Nijmegen Phenotypes Aplastic anemia, 609135 Leukemia, acute lymphoblastic, 613065 Nijmegen breakage syndrome, 251260 Tags
Red Red List (low evidence)	NF1	1 review 1 green	Unknown	Sources BRIDGE consortium (NIHRBR-RD) Phenotypes Myelodysplastic syndrome (MDS), Paediatric Tags
Red Red List (low evidence)	NOTCH1	1 review 1 green	Unknown	Sources BRIDGE consortium (NIHRBR-RD) Phenotypes Acute lymphoblastic leukemia (ALL) Tags
Red Red List (low evidence)	NPM1	1 review 1 green	Unknown	Sources BRIDGE consortium (NIHRBR-RD) Phenotypes Acute myeloid leukaemia (AML) Tags
Red Red List (low evidence)	NRAS	1 review 1 green	Unknown	Sources BRIDGE consortium (NIHRBR-RD) Phenotypes Myelodysplastic syndrome (MDS), Paediatric Tags
Red Red List (low evidence)	NT5C3A	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources UKGTN Phenotypes HEMOLYTIC ANEMIA DUE TO UMPH1 DEFICIENCY Tags
Red Red List (low evidence)	NUDT1	1 review	Not set	Sources UKGTN Phenotypes Thrombocytopenia Absent-Radius Syndrome Tags
Red Red List (low evidence)	PDGFRA	1 review 1 green	Unknown	Sources BRIDGE consortium (NIHRBR-RD) Phenotypes Eos leukaemia Chronic eosinophilic leukaemia Tags
Red Red List (low evidence)	PEX11B	1 review	Not set	Sources UKGTN Phenotypes Thrombocytopenia Absent-Radius Syndrome Tags
Red Red List (low evidence)	PFKM	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources BRIDGE consortium (NIHRBR-RD) Phenotypes Enzyme Disorder Glycogen storage disease Tags
Red Red List (low evidence)	PHF6	1 review 1 green	Unknown	Sources BRIDGE consortium (NIHRBR-RD) Phenotypes Acute myeloid leukaemia (AML) Tags
Red Red List (low evidence)	PIAS3	1 review	Not set	Sources UKGTN Phenotypes Thrombocytopenia Absent-Radius Syndrome Tags
Red Red List (low evidence)	PIEZO1	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources BRIDGE consortium (NIHRBR-RD) Phenotypes Stomatocytosis Dehydrated hereditary stomatocytosis Tags
Red Red List (low evidence)	PIGA	0 reviews	Not set	Sources Eligibility statement prior genetic testing Radboud University Medical Center, Nijmegen Phenotypes Paroxysmal nocturnal hemoglobinuria, somatic, 300818 Tags
Red Red List (low evidence)	PIGT	0 reviews	Not set	Sources Radboud University Medical Center, Nijmegen Phenotypes ?Multiple congenital anomalies-hypotonia-seizures syndrome 3, 615398 ?Paroxysmal nocturnal hemoglobinuria 2, 615399 Tags
Red Red List (low evidence)	PKLR	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources UKGTN Phenotypes PYRUVATE KINASE DEFICIENCY Tags
Red Red List (low evidence)	POLR3GL	1 review	Not set	Sources UKGTN Phenotypes Thrombocytopenia Absent-Radius Syndrome Tags
Red Red List (low evidence)	PRKG1	1 review 1 green	Unknown	Sources BRIDGE consortium (NIHRBR-RD) Phenotypes Enzyme Disorder Tags
Red Red List (low evidence)	PTEN	1 review 1 green	Unknown	Sources BRIDGE consortium (NIHRBR-RD) Phenotypes Myelodysplastic syndrome (MDS), Adult Myelodysplastic syndrome (MDS), Paediatric Acute myeloid leukaemia (AML) Tags
Red Red List (low evidence)	PTPN11	1 review 1 green	Unknown	Sources BRIDGE consortium (NIHRBR-RD) Phenotypes Myelodysplastic syndrome (MDS), Paediatric Tags
Red Red List (low evidence)	RAC2	0 reviews	Not set	Sources Radboud University Medical Center, Nijmegen Phenotypes Neutrophil immunodeficiency syndrome, 608203 Tags
Red Red List (low evidence)	RAD21	1 review 1 green	Unknown	Sources BRIDGE consortium (NIHRBR-RD) Phenotypes Acute myeloid leukaemia (AML) Especially in Down syndrome AML Tags
Red Red List (low evidence)	RHAG	1 review 1 green	Not set	Sources Radboud University Medical Center, Nijmegen Phenotypes Anemia,hemolytic,Rh null,regulatortype,268150Rh modsyndrome Tags
Red Red List (low evidence)	RMRP	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources BRIDGE consortium (NIHRBR-RD) Phenotypes Severe congenital neutropenia Cartilage-hair hypoplasia Tags
Red Red List (low evidence)	RPL15	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources BRIDGE consortium (NIHRBR-RD) Phenotypes Diamond Blackfan Anaemia (DBA) Tags
Red Red List (low evidence)	RPL19	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources UKGTN Phenotypes Diamond-Blackfan anemia 12 Tags
Red Red List (low evidence)	RPL26	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert list Phenotypes Diamond Blackfan anemia DIAMOND-BLACKFAN ANEMIA 11 Tags
Red Red List (low evidence)	RPL27	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources UKGTN Phenotypes Diamond-Blackfan anemia Tags
Red Red List (low evidence)	RPL9	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources UKGTN Phenotypes Diamond-Blackfan anemia Tags
Red Red List (low evidence)	RPS14	1 review 1 green	Not set	Sources Radboud University Medical Center, Nijmegen Phenotypes Macrocyticanemia,refractory,dueto5qdeletion,somatic,153550 3 Macrocytic anemia, refractory, due to 5q deletion, somatic, 153550 -3 Tags
Red Red List (low evidence)	RPS27	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources UKGTN Phenotypes Diamond-Blackfan anemia Tags
Red Red List (low evidence)	RPS29	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert list Phenotypes Diamond Blackfan anemia Diamond-Blackfan anemia Tags
Red Red List (low evidence)	RUNX1	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert list UKGTN Phenotypes Inherited Bone Marrow Failure Syndromes - Thrombocytopenia Familial MDS (Myelodysplastic syndromes) Platelet Disorder, Familial, With Associated Myeloid Malignancy Tags
Red Red List (low evidence)	SETBP1	1 review 1 green	Unknown	Sources BRIDGE consortium (NIHRBR-RD) Phenotypes Myelodysplastic syndrome (MDS), Paediatric Tags
Red Red List (low evidence)	SF3B1	1 review 1 green	Not set	Sources Radboud University Medical Center, Nijmegen Phenotypes Myelodysplastic syndrome, somatic, 614286 Tags
Red Red List (low evidence)	SH3BP1	1 review 1 green	Unknown	Sources BRIDGE consortium (NIHRBR-RD) Phenotypes Myelodysplastic syndrome (MDS), Paediatric Tags
Red Red List (low evidence)	SLC2A1	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources BRIDGE consortium (NIHRBR-RD) Phenotypes Stomatocytosis Pyridoxine-refractory sideroblastic anemia Tags
Red Red List (low evidence)	SLC34A1	0 reviews	Not set	Sources Radboud University Medical Center, Nijmegen Phenotypes Nephrolithiasis/osteoporosis, hypophosphatemic, 1, 612286 Fanconi renotubular syndrome 2, 613388 Tags
Red Red List (low evidence)	SLC4A1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Illumina TruGenome Clinical Sequencing Services Phenotypes Hemolytic Anemia Tags
Red Red List (low evidence)	SMC1A	1 review 1 green	Unknown	Sources BRIDGE consortium (NIHRBR-RD) Phenotypes Acute myeloid leukaemia (AML) Especially in Down syndrome AML Tags
Red Red List (low evidence)	SMC3	1 review 1 green	Unknown	Sources BRIDGE consortium (NIHRBR-RD) Phenotypes Acute myeloid leukaemia (AML) Especially in Down syndrome AML Tags
Red Red List (low evidence)	SPTA1	1 review 1 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources BRIDGE consortium (NIHRBR-RD) Phenotypes RBC membrane abnormality Elliptocytosis (MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown) Pyropoikilocytosis (BIALLELIC, autosomal or pseudoautosomal) Spherocytosis (BIALLELIC, autosomal or pseudoautosomal) Tags
Red Red List (low evidence)	SPTB	1 review 1 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources BRIDGE consortium (NIHRBR-RD) Phenotypes RBC membrane abnormality Elliptocytosis (MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown) Spherocytosis (BOTH monoallelic and biallelic, autosomal or pseudoautosomal Tags
Red Red List (low evidence)	SRSF2	1 review 1 green	Unknown	Sources BRIDGE consortium (NIHRBR-RD) Phenotypes Myelodysplastic syndrome (MDS), Paediatric Tags
Red Red List (low evidence)	STAG2	1 review 1 green	Unknown	Sources BRIDGE consortium (NIHRBR-RD) Phenotypes Acute myeloid leukaemia (AML) Especially in Down syndrome AML Tags
Red Red List (low evidence)	TAZ	0 reviews	Not set	Sources UKGTN Phenotypes Barth Syndrome Tags
Red Red List (low evidence)	TERC	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Eligibility statement prior genetic testing Expert list UKGTN Phenotypes Inherited Bone Marrow Failure Syndromes Inherited Bone Marrow Failure Syndromes - Aplastic Anaemia Telomere_Related Pulmonary Fibrosis And/Or Bone Marrow Failure_2 Dyskeratosis congenita Dyskeratosis Congenita, Autosomal Dominant, 1 Telomere_Related Pulmonary Fibrosis And/Or Bone Marrow Failure_1 DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT, 1 Tags locus-type-rna-misc
Red Red List (low evidence)	TET2	1 review 1 green	Not set	Sources Radboud University Medical Center, Nijmegen Phenotypes Myelodysplastic syndrome, somatic, 614286 Tags
Red Red List (low evidence)	TF	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources UKGTN Tags
Red Red List (low evidence)	TP53	1 review 1 green	Unknown	Sources BRIDGE consortium (NIHRBR-RD) Phenotypes Myelodysplastic syndrome (MDS), Paediatric Tags
Red Red List (low evidence)	TPI1	1 review 1 green	Not set	Sources Radboud University Medical Center, Nijmegen Phenotypes Hemolytic anemia due to triosephosphate isomerase deficiency Tags
Red Red List (low evidence)	TUBB1	0 reviews	Not set	Sources Radboud University Medical Center, Nijmegen Phenotypes Macrothrombocytopenia, autosomal dominant, TUBB1-related, 613112 Tags
Red Red List (low evidence)	TXNIP	1 review	Not set	Sources UKGTN Phenotypes Thrombocytopenia Absent-Radius Syndrome Tags
Red Red List (low evidence)	U2AF1	2 reviews 1 green	Unknown	Sources Expert Review Red Phenotypes Acute myeloid leukaemia (AML) Myelodysplastic syndrome (MDS) Tags
Red Red List (low evidence)	UBE2T	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources BRIDGE consortium (NIHRBR-RD) Phenotypes Fanconi anemia Tags
Red Red List (low evidence)	USB1	1 review 1 green	Not set	Sources Expert list Phenotypes Dyskeratosis congenita Tags
Red Red List (low evidence)	VPS45	1 review 1 green	Not set	Sources Radboud University Medical Center, Nijmegen Phenotypes Neutropenia,severecongenital,5,autosomalrecessive,615285 Tags
Red Red List (low evidence)	WIPF1	0 reviews	Not set	Sources Radboud University Medical Center, Nijmegen Phenotypes Wiskott-Aldrich syndrome 2, 614493 Tags
Red Red List (low evidence)	WT1	1 review 1 green	Unknown	Sources BRIDGE consortium (NIHRBR-RD) Phenotypes Acute myeloid leukaemia (AML) Tags
Red Red List (low evidence)	ZRSR2	1 review 1 green	Unknown	Sources BRIDGE consortium (NIHRBR-RD) Phenotypes Acute myeloid leukaemia (AML) Chronic Myeloid Leukemia (CML) Tags

Anaemias and red cell disorders (Version 0.38)

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