Cytopenias and congenital anaemias (Version 1.118)

Level 3: Anaemias and red cell disorders
Level 2: Haematological disorders

Relevant disorders: Aplastic anaemia with or without paroxysmal nocturnal haemoglobinuria, Apparent aplastic anaemia or paroxysmal nocturnal haemoglobinuria, Congenital anaemias, Early onset pancytopenia and red cell disorders, Anaemias and red cell disorders, Cytopaenias and congenital anaemias, Cytopenia and pancytopenia
Panel types: Rare Disease 100K
Previous code: 58a70e858f62037e8779b2e8

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 also includes BRIDGE consortium 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

18 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
Mary Alikian (Imperial College London)

Group: NHS Genomic Medicine Centre
Workplace: NHS diagnostic lab
Olivia Niblock (Genomics England Curator)

Group: Other
Workplace: Other
Sarah Leigh (Genomics England Curator)

Group: Other
Workplace: Other
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
Arianna Tucci (Genomics England Curator)

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

Group: Other
Workplace: Other
Rachel Jones (GSTT)

Group: NHS Genomic Medicine Centre
Workplace: NHS clinical service
Øystein Holla (Telemark Hospital Trust)

Group: Other
Workplace: Other diagnostic lab
Zornitza Stark (Australian Genomics)

Group: Other
Workplace: Other clinical service
Ivone Leong (Genomics England Curator)

Group: Other
Workplace: Other
Julia Baptista (Royal Devon and Exeter NHS Foundation Trust)

Group: Other NHS organisation
Workplace: NHS diagnostic lab
Catherine Snow (Genomics England)

Group: Other
Workplace: Other
Arina Puzriakova (Genomics England Curator)

Group: Other
Workplace: Other

223 Entities

223 reviewed, 98 green

List	Entity	Reviews	Mode of inheritance	Details
Filter Entities 223 Entitiess
Green Green List (high evidence)	ABCB7	3 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 Expert Review Green Illumina TruGenome Clinical Sequencing Services Radboud University Medical Center, Nijmegen Phenotypes Anemia, sideroblastic, with ataxia, OMIM:301310 Tags missense
Green Green List (high evidence)	ADA2	2 reviews 1 green 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Vasculitis, autoinflammation, immunodeficiency, and hematologic defects syndrome, OMIM:615688 Sneddon syndrome, OMIM:182410 Diamond-Blackfan Anemia Tags
Green Green List (high evidence)	ADAMTS13	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Illumina TruGenome Clinical Sequencing Services Phenotypes Thrombotic thrombocytopenic purpura, hereditary, OMIM:274150 Tags
Green Green List (high evidence)	AK1	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Radboud University Medical Center, Nijmegen Phenotypes Hemolytic anemia due to adenylate kinase deficiency, 612631 Tags
Green Green List (high evidence)	ALAS2	2 reviews 2 green	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Eligibility statement prior genetic testing Expert Review Green Illumina TruGenome Clinical Sequencing Services UKGTN Phenotypes Anemia, sideroblastic, 1, OMIM:300751 Tags missense
Green Green List (high evidence)	ALDOA	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources BRIDGE consortium (NIHRBR-RD) Expert Review Green Illumina TruGenome Clinical Sequencing Services Radboud University Medical Center, Nijmegen Phenotypes Enzyme Disorder Glycogen storage disease Glycogen storage disease XII, 611881 Aldolase A deficiency Glycogen storage disease due to aldolase A deficiency Tags
Green Green List (high evidence)	AMN	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Radboud University Medical Center, Nijmegen Phenotypes Megaloblastic anemia-1, Norwegian type, 261100 Tags treatable
Green Green List (high evidence)	ANK1	2 reviews 1 green	BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal	Sources BRIDGE consortium (NIHRBR-RD) Expert Review Green Illumina TruGenome Clinical Sequencing Services Radboud University Medical Center, Nijmegen Phenotypes RBC membrane abnormality Spherocytosis, type 1,182900 Tags
Green Green List (high evidence)	BRCA2	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Illumina TruGenome Clinical Sequencing Services UKGTN Phenotypes Fanconi anemia, complementation group D1, OMIM:605724 Tags
Green Green List (high evidence)	BRIP1	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Illumina TruGenome Clinical Sequencing Services UKGTN Phenotypes Fanconi anemia, complementation group J, OMIM:609054 Tags
Green Green List (high evidence)	C15orf41	4 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Eligibility statement prior genetic testing Expert Review Green UKGTN Phenotypes Dyserythropoietic anemia, congenital, type Ib, OMIM:615631 Congenital dyserythropoietic anemia type type 1B, MONDO:0014285 Tags missense new-gene-name
Green Green List (high evidence)	CD59	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Radboud University Medical Center, Nijmegen Phenotypes Hemolytic anemia, CD59-mediated, with or without immune-mediated polyneuropathy, 612300 Tags
Green Green List (high evidence)	CDAN1	3 reviews 3 green	BIALLELIC, autosomal or pseudoautosomal	Sources Eligibility statement prior genetic testing Expert Review Green Illumina TruGenome Clinical Sequencing Services UKGTN Phenotypes Dyserythropoietic anemia, congenital, type Ia, OMIM:224120 Anemia, congenital dyserythropoietic, type 1a, MONDO:0009135 Tags
Green Green List (high evidence)	CSF3R	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Literature Phenotypes Severe congenital neutropenia Neutropenia, severe congenital, 7, autosomal recessive 617014 Tags
Green Green List (high evidence)	CTC1	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green 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
Green Green List (high evidence)	CUBN	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Illumina TruGenome Clinical Sequencing Services Radboud University Medical Center, Nijmegen Phenotypes Megaloblastic anemia-1, Finnish type, 261100 Megaloblastic Anemia Tags treatable
Green Green List (high evidence)	CXCR4	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert list Expert Review Green Radboud University Medical Center, Nijmegen Phenotypes WHIM syndrome, 193670 Warts, hypogammaglobulinemia, infections, and myelokathexis, Myelokathexis, isolated Severe congenital neutropenia Tags
Green Green List (high evidence)	DHFR	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Radboud University Medical Center, Nijmegen Phenotypes Megaloblastic anemia due to dihydrofolate reductase deficiency, 613839 Tags treatable
Green Green List (high evidence)	DKC1	2 reviews 1 green	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Eligibility statement prior genetic testing Emory Genetics Laboratory Expert list Expert Review Green Radboud University Medical Center, Nijmegen UKGTN Phenotypes Dyskeratosis congenita Dyskeratosis congenita, X-linked, 305000 Tags
Green Green List (high evidence)	DNAJC21	2 reviews 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Other Phenotypes Pancytopaenia Bone Marrow Failure Bone marrow failure syndrome 3, 617052 Tags
Green Green List (high evidence)	ELANE	2 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert list Expert Review Green Radboud University Medical Center, Nijmegen UKGTN Phenotypes Neutropenia, cyclic 162800 Neutropenia, severe congenital 1, autosomal dominant 202700 Tags
Green Green List (high evidence)	EPB41	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources BRIDGE consortium (NIHRBR-RD) Expert Review Green Literature Radboud University Medical Center, Nijmegen Phenotypes RBC membrane abnormality Elliptocytosis Elliptocytosis-1,611804 Hereditary elliptocytosis Tags
Green Green List (high evidence)	EPB42	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources BRIDGE consortium (NIHRBR-RD) Expert Review Green Illumina TruGenome Clinical Sequencing Services Radboud University Medical Center, Nijmegen Phenotypes RBC membrane abnormality Elliptocytosis Spherocytosis, type 5, 612690 Hereditary spherocytosis type 5 Minkowski-Chauffard disease Spherocytosis, Recessive EPB42-related hereditary spherocytosis Tags
Green Green List (high evidence)	ERCC4	4 reviews 3 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature UKGTN Phenotypes Fanconi anemia, complementation group Q, 615272 Tags
Green Green List (high evidence)	ERCC6L2	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Radboud University Medical Center, Nijmegen Phenotypes Bone marrow failure syndrome 2, 615715 Tags
Green Green List (high evidence)	FANCA	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Illumina TruGenome Clinical Sequencing Services UKGTN Phenotypes Fanconi anemia, complementation group A, 227650 Fanconi anemia Tags
Green Green List (high evidence)	FANCB	3 reviews 1 green	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	Sources Emory Genetics Laboratory Expert list Expert Review Green Illumina TruGenome Clinical Sequencing Services Radboud University Medical Center, Nijmegen UKGTN Phenotypes Falcon anemia Fanconi anemia, complementation group B, 300514 Fanconi Anemia, X-Linked Fanconi Anemia Type B Fanconi Anaemia Tags
Green Green List (high evidence)	FANCC	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Illumina TruGenome Clinical Sequencing Services UKGTN Phenotypes Fanconi Anemia Fanconi anemia, complementation group C, 227645 Tags
Green Green List (high evidence)	FANCD2	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Illumina TruGenome Clinical Sequencing Services UKGTN Phenotypes Fanconi Anemia Fanconi anemia, complementation group D2, 227646 Tags
Green Green List (high evidence)	FANCE	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Illumina TruGenome Clinical Sequencing Services UKGTN Phenotypes Fanconi Anemia Fanconi anemia, complementation group E, 600901 Tags
Green Green List (high evidence)	FANCF	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Illumina TruGenome Clinical Sequencing Services UKGTN Phenotypes Fanconi Anemia Fanconi anemia, complementation group F, 603467 Tags
Green Green List (high evidence)	FANCG	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Illumina TruGenome Clinical Sequencing Services UKGTN Phenotypes Fanconi Anemia Fanconi anemia, complementation group G, 614082 Tags
Green Green List (high evidence)	FANCI	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Illumina TruGenome Clinical Sequencing Services UKGTN Phenotypes Fanconi Anemia Fanconi anemia, complementation group I, 609053 Tags
Green Green List (high evidence)	FANCL	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Illumina TruGenome Clinical Sequencing Services UKGTN Phenotypes Fanconi Anemia Fanconi anemia, complementation group L, 614083 Tags
Green Green List (high evidence)	G6PC3	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green 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, 612541 Dursun 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 Expert Review Green Illumina TruGenome Clinical Sequencing Services Radboud University Medical Center, Nijmegen UKGTN Phenotypes Hemolytic anemia due to G6PD deficiency, 300908 Enzyme Disorder Tags
Green Green List (high evidence)	GATA1	3 reviews 2 green	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Eligibility statement prior genetic testing Expert Review Green Radboud University Medical Center, Nijmegen UKGTN Phenotypes Myelodysplastic syndrome (MDS), Paediatric Diamond Blackfan Anaemia Anemia, X-linked, with/without neutropenia and/or platelet abnormalities 300835 Thrombocytopenia, X-linked, with or without dyserythropoietic anemia 300367 Tags
Green Green List (high evidence)	GATA2	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert list Expert Review Green 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 (includes pancytopenia) {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 Congenital dyserythropoietic anemia (CDA) Tags somatic
Green Green List (high evidence)	GCLC	3 reviews 2 green 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Radboud University Medical Center, Nijmegen Phenotypes Enzyme Disorder Hemolytic anemia due to gamma-glutamylcysteine synthetase deficiency, 230450 Glutamate-cysteine ligase deficiency Tags
Green Green List (high evidence)	GFI1	3 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert list Expert Review Green 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)	GLRX5	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Radboud University Medical Center, Nijmegen Phenotypes Anemia, sideroblastic, pyridoxine-refractory, autosomal recessive, 205950 Tags
Green Green List (high evidence)	GSS	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Radboud University Medical Center, Nijmegen Phenotypes Enzyme Disorder Hemolytic anemia due to glutathione synthetase deficiency, 231900 Glutathione synthetase deficiency, 266130 Tags
Green Green List (high evidence)	HAX1	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green 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)	HBA1	5 reviews 2 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Radboud University Medical Center, Nijmegen Phenotypes Erythrocytosis 7, OMIM:617981 Heinz body anemias, alpha-, OMIM:140700 Hemoglobin H disease, nondeletional, OMIM:613978 Methemoglobinemia, alpha type, OMIM:617973 Thalassemias, alpha-, OMIM:604131 Tags cnv deletions non-coding-known-pathogenic
Green Green List (high evidence)	HBA2	4 reviews 2 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Radboud University Medical Center, Nijmegen Phenotypes Erythrocytosis 7, OMIM:617981 Heinz body anemia, OMIM:140700 Hemoglobin H disease, deletional and nondeletional, OMIM:613978 Thalassemia, alpha-, OMIM:604131 Tags cnv structural-variant
Green Green List (high evidence)	HBB	4 reviews 2 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Illumina TruGenome Clinical Sequencing Services Radboud University Medical Center, Nijmegen UKGTN Phenotypes Delta-beta thalassemia, OMIM:141749 Heinz body anemia, OMIM:140700 Hereditary persistence of fetal hemoglobin, OMIM:141749 Methemoglobinemia, beta type, OMIM:617971 Thalassemia, beta, OMIM:613985 Thalassemia-beta, dominant inclusion-body, OMIM:603902 Sickle cell anemia, OMIM:603903 Tags cnv gene-therapy-trial
Green Green List (high evidence)	HK1	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Radboud University Medical Center, Nijmegen Phenotypes Hemolytic anemia due to hexokinase deficiency, OMIM:235700 Tags
Green Green List (high evidence)	KIF23	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green UKGTN Phenotypes Enzyme Disorder Congenital dyserythropoietic anemia type III CDA III Congenital dyserythropoietic anemia (CDA) Tags
Green Green List (high evidence)	KLF1	2 reviews 1 green	BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal	Sources Expert Review Green Illumina TruGenome Clinical Sequencing Services Radboud University Medical Center, Nijmegen UKGTN Phenotypes Dyserythropoietic anemia, congenital, type IV, OMIM:613673 Tags
Green Green List (high evidence)	LPIN2	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources BRIDGE consortium (NIHRBR-RD) Expert Review Green Illumina TruGenome Clinical Sequencing Services Literature Radboud University Medical Center, Nijmegen Phenotypes Majeed syndrome, OMIM:609628 Microcytic anemia Congenital dyserythropoietic anemia Tags
Green Green List (high evidence)	MPL	3 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Illumina TruGenome Clinical Sequencing Services Radboud University Medical Center, Nijmegen UKGTN Phenotypes Thrombocytopenia, congenital amegakaryocytic, OMIM:604498 Tags somatic
Green Green List (high evidence)	MTR	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Radboud University Medical Center, Nijmegen Phenotypes Homocystinuria-megaloblastic anemia, cblG complementation type, 250940 Tags
Green Green List (high evidence)	MTRR	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Radboud University Medical Center, Nijmegen Phenotypes Homocystinuria-megaloblastic anemia, cbl E type, 236270 Tags
Green Green List (high evidence)	NBN	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Radboud University Medical Center, Nijmegen Phenotypes Aplastic anemia, 609135 Leukemia, acute lymphoblastic, 613065 Nijmegen breakage syndrome, 251260 Tags
Green Green List (high evidence)	NHP2	3 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Illumina TruGenome Clinical Sequencing Services Radboud University Medical Center, Nijmegen UKGTN Phenotypes Dyskeratosis congenita, autosomal recessive 2, 613987 Tags
Green Green List (high evidence)	NT5C3A	3 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Radboud University Medical Center, Nijmegen UKGTN Phenotypes Anemia, hemolytic, due to UMPH1 deficiency 266120 Tags
Green Green List (high evidence)	PALB2	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Illumina TruGenome Clinical Sequencing Services UKGTN Phenotypes Fanconi anemia, complementation group N 610832 Tags
Green Green List (high evidence)	PFKM	3 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources BRIDGE consortium (NIHRBR-RD) Expert Review Green Illumina TruGenome Clinical Sequencing Services Radboud University Medical Center, Nijmegen Phenotypes Glycogen storage disease VII, 232800 Tags
Green Green List (high evidence)	PIEZO1	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources BRIDGE consortium (NIHRBR-RD) Expert Review Green Phenotypes Dehydrated hereditary stomatocytosis with or without pseudohyperkalemia and/or perinatal edema, OMIM:194380 Hereditary xerocytosis Tags
Green Green List (high evidence)	PKLR	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green UKGTN Phenotypes Pyruvate kinase deficiency, OMIM:266200 Tags
Green Green List (high evidence)	PUS1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Illumina TruGenome Clinical Sequencing Services Radboud University Medical Center, Nijmegen Phenotypes Myopathy, Lactic Acidosis, and Sideroblastic Anemia, 600462 Tags
Green Green List (high evidence)	RHAG	2 reviews 1 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Radboud University Medical Center, Nijmegen Phenotypes Anemia, hemolytic, Rh-null, regulator type, OMIM:268150 (AR) Overhydrated hereditary stomatocytosis, OMIM:185000 (AD) Tags
Green Green List (high evidence)	RMRP	3 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources BRIDGE consortium (NIHRBR-RD) Expert Review Green Phenotypes Severe congenital neutropenia Cartilage-hair hypoplasia Tags
Green Green List (high evidence)	RPL11	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert list Expert Review Green 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	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert list Expert Review Green 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	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert list Expert Review Green 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	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert list Expert Review Green 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)	RPS17	2 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert list Expert Review Green Radboud University Medical Center, Nijmegen UKGTN Phenotypes Diamond-Blackfan anemia 4 612527 Tags
Green Green List (high evidence)	RPS19	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert list Expert Review Green 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	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert list Expert Review Green 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 deletions
Green Green List (high evidence)	RPS26	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert list Expert Review Green 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	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert list Expert Review Green 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)	RTEL1	2 reviews 2 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Radboud University Medical Center, Nijmegen UKGTN Phenotypes Dyskeratosis congenita, autosomal recessive 5 615190 Dyskeratosis congenita, autosomal dominant 4 615190 Tags
Green Green List (high evidence)	SAMD9	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green Literature Phenotypes MIRAGE syndrome, 617053 Tags missense
Green Green List (high evidence)	SAMD9L	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green Literature Phenotypes Ataxia-pancytopenia syndrome 159550 Tags
Green Green List (high evidence)	SBDS	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Eligibility statement prior genetic testing Expert list Expert Review Green Radboud University Medical Center, Nijmegen UKGTN Phenotypes Shwachman-Diamond syndrome 260400 Tags
Green Green List (high evidence)	SEC23B	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Emory Genetics Laboratory Expert Review Green Illumina TruGenome Clinical Sequencing Services Radboud University Medical Center, Nijmegen UKGTN Phenotypes Dyserythropoietic anemia, congenital, type II, OMIM:224100 Tags
Green Green List (high evidence)	SLC11A2	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Illumina TruGenome Clinical Sequencing Services UKGTN Phenotypes Anemia, hypochromic microcytic, with iron overload 1 206100 Tags
Green Green List (high evidence)	SLC19A2	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Illumina TruGenome Clinical Sequencing Services Radboud University Medical Center, Nijmegen Phenotypes Thiamine-Responsive Megaloblastic Anemia syndrome 249270 Tags treatable
Green Green List (high evidence)	SLC25A38	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Eligibility statement prior genetic testing Expert Review Green Radboud University Medical Center, Nijmegen UKGTN Phenotypes Anemia, sideroblastic, 2, pyridoxine-refractory 205950 Tags
Green Green List (high evidence)	SLC2A1	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources BRIDGE consortium (NIHRBR-RD) Expert Review Green Literature Phenotypes Stomatocytosis Pyridoxine-refractory sideroblastic anemia Tags
Green Green List (high evidence)	SLC4A1	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green Illumina TruGenome Clinical Sequencing Services Phenotypes Haemolytic Anemia RBC membrane abnormality Cryohydrocytosis,185020 Ovalocytosis, SA type, 166900 Spherocytosis, type 4, 612653 Tags
Green Green List (high evidence)	SLX4	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Illumina TruGenome Clinical Sequencing Services UKGTN Phenotypes Fanconi Anemia Fanconi anemia, complementation group P, 613951 Tags
Green Green List (high evidence)	SPTA1	2 reviews 1 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources BRIDGE consortium (NIHRBR-RD) Expert Review Green Illumina TruGenome Clinical Sequencing Services Radboud University Medical Center, Nijmegen Phenotypes RBC membrane abnormality Elliptocytosis-2 (MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown), 130600 Pyropoikilocytosis (BIALLELIC, autosomal or pseudoautosomal), 266140 Spherocytosis, type 3 (BIALLELIC, autosomal or pseudoautosomal), 270970 Tags
Green Green List (high evidence)	SPTB	2 reviews 1 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources BRIDGE consortium (NIHRBR-RD) Expert Review Green Illumina TruGenome Clinical Sequencing Services Radboud University Medical Center, Nijmegen Phenotypes RBC membrane abnormality Elliptocytosis Spherocytosis,616649 Anemia, neonatal hemolytic, fatal and near-fatal Tags
Green Green List (high evidence)	TAZ	3 reviews 1 green	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Green UKGTN Phenotypes Barth syndrome 302060 Tags new-gene-name
Green Green List (high evidence)	TCN2	4 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	4 reviews 2 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Eligibility statement prior genetic testing Expert list Expert Review Green Illumina TruGenome Clinical Sequencing Services Radboud University Medical Center, Nijmegen UKGTN Phenotypes Dyskeratosis congenita, autosomal dominant 2, OMIM:613989 Dyskeratosis congenita, autosomal recessive 4, OMIM:613989 Pulmonary fibrosis and/or bone marrow failure, telomere-related, 1, OMIM:614742 (AD) Tags
Green Green List (high evidence)	TF	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Illumina TruGenome Clinical Sequencing Services Literature Radboud University Medical Center, Nijmegen UKGTN Phenotypes Atransferrinemia, 209300 Congenital hypotransferrinemia Tags
Green Green List (high evidence)	TMPRSS6	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green 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)	TPI1	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Illumina TruGenome Clinical Sequencing Services Literature Radboud University Medical Center, Nijmegen Phenotypes Hemolytic anemia due to triosephosphate isomerase deficiency,615512 Enzyme Disorder Tags
Green Green List (high evidence)	UBE2T	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources BRIDGE consortium (NIHRBR-RD) Expert Review Green Radboud University Medical Center, Nijmegen Phenotypes Falcon anemia Fanconi anemia, complementation group T, 616435 Tags
Green Green List (high evidence)	UROS	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Expert Review Green Phenotypes Porphyria, congenital erythropoietic 263700 Tags treatable
Green Green List (high evidence)	VPS45	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Radboud University Medical Center, Nijmegen Phenotypes Neutropenia, severe congenital, 5, autosomal recessive, 615285 Congenital neutropenia-bone marrow fibrosis-nephromegaly syndrome VPS45 deficiency Severe congenital neutropenia Tags missense
Green Green List (high evidence)	WAS	3 reviews 2 green	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert list Expert Review Green Radboud University Medical Center, Nijmegen UKGTN Phenotypes Neutropenia, severe congenital, X-linked 300299 Thrombocytopenia, X-linked 313900 Thrombocytopenia, X-linked, intermittent 313900 Wiskott-Aldrich syndrome 301000 Tags gene-therapy-trial
Green Green List (high evidence)	WIPF1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Radboud University Medical Center, Nijmegen Phenotypes Wiskott-Aldrich syndrome like, WIP deficiency WIP deficiency ?Wiskott-Aldrich syndrome 2 614493 Thrombocytopenia with or without small platelets, recurrent bacterial and viral infections, eczema, bloody diarrhea, WAS protein absent 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 Literature Phenotypes McLeod syndrome with or without chronic granulomatous disease,OMIM:300842 Tags
Green Green List (high evidence)	YARS2	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Illumina TruGenome Clinical Sequencing Services Radboud University Medical Center, Nijmegen Phenotypes Myopathy, lactic acidosis, and sideroblastic anemia 2 613561 Tags
Amber Amber List (moderate evidence)	ATRX	3 reviews 1 green	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources BRIDGE consortium (NIHRBR-RD) Expert Review Amber Phenotypes Myelodysplastic syndrome (MDS), Adult Alpha-thalassemia myelodysplasia syndrome, somatic 300448 Alpha-thalassemia/mental retardation syndrome 301040 XLD Tags somatic
Amber Amber List (moderate evidence)	BRCA1	3 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources BRIDGE consortium (NIHRBR-RD) Expert Review Amber Phenotypes Fanconi anemia, complementation group S, OMIM:617883 Tags
Amber Amber List (moderate evidence)	CBL	2 reviews 1 green	Unknown	Sources BRIDGE consortium (NIHRBR-RD) Expert Review Amber Phenotypes Myelodysplastic syndrome (MDS), Paediatric Noonan syndrome-like disorder with or without juvenile myelomonocytic leukemia Tags
Amber Amber List (moderate evidence)	CEBPA	3 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert list Expert Review Amber Phenotypes Familial MDS (Myelodysplastic syndromes) acute myeloid leukemia (AML) Tags somatic
Amber Amber List (moderate evidence)	COX4I2	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber 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)	FLT3	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources BRIDGE consortium (NIHRBR-RD) Expert Review Amber Phenotypes Myelodysplastic syndrome (MDS), Paediatric Tags
Amber Amber List (moderate evidence)	GPI	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Radboud University Medical Center, Nijmegen Phenotypes Hemolytic anemia, nonspherocytic, due to glucose phosphate isomerase deficiency, 613470 Tags
Amber Amber List (moderate evidence)	HBD	1 review	Unknown	Sources Expert Review Amber Radboud University Medical Center, Nijmegen Phenotypes Thalassemia,delta ThalassemiaduetoHbLepore Tags
Amber Amber List (moderate evidence)	HOXA11	1 review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert list Expert Review Amber Radboud University Medical Center, Nijmegen Phenotypes Congenital amegkaryocytic thrombocytopenia Radioulnar synostosis with amegakaryocytic thrombocytopenia, 605432 Tags
Amber Amber List (moderate evidence)	IKZF1	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources BRIDGE consortium (NIHRBR-RD) Expert Review Amber Phenotypes Acute lymphoblastic leukemia (ALL) Immunodeficiency, common variable, 13 616873 Tags somatic
Amber Amber List (moderate evidence)	LAT	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Other Phenotypes Immunodeficiency 52, 617514 Tags watchlist
Amber Amber List (moderate evidence)	NPM1	4 reviews 2 green 1 red	Unknown	Sources BRIDGE consortium (NIHRBR-RD) Expert Review Amber Phenotypes Acute myeloid leukaemia (AML) Tags somatic
Amber Amber List (moderate evidence)	RAD51C	3 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Amber Illumina TruGenome Clinical Sequencing Services UKGTN Phenotypes Fanconi anemia, complementation group O 613390 Tags watchlist
Amber Amber List (moderate evidence)	RAP1B	1 review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Amber Literature Phenotypes Syndromic intellectual disability cytopenia Tags watchlist
Amber Amber List (moderate evidence)	RPS29	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert list Expert Review Amber Phenotypes Diamond-Blackfan anemia 13 615909 Tags
Amber Amber List (moderate evidence)	TERC	3 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Eligibility statement prior genetic testing Expert list Expert Review Amber 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
Amber Amber List (moderate evidence)	TINF2	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Amber Illumina TruGenome Clinical Sequencing Services Radboud University Medical Center, Nijmegen UKGTN Phenotypes Revesz syndrome 268130 Dyskeratosis congenita, autosomal dominant 3 613990 Tags
Amber Amber List (moderate evidence)	WRAP53	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Amber 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
Red Red List (low evidence)	ABL1	2 reviews 1 green	Unknown	Sources BRIDGE consortium (NIHRBR-RD) Expert Review Red Phenotypes Chronic Myeloid Leukemia (CML) Tags somatic
Red Red List (low evidence)	ACSL6	1 review 1 red	Unknown	Sources Expert Review Red Radboud University Medical Center, Nijmegen Phenotypes Myelodysplastic syndrome Myelogenous leukemia, acute Tags
Red Red List (low evidence)	ANKRD26	1 review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert list Expert Review Red Illumina TruGenome Clinical Sequencing Services Radboud University Medical Center, Nijmegen Phenotypes Thrombocytopenia 2, 188000 Congenital amegkaryocytic thrombocytopenia Tags non-coding-known-pathogenic
Red Red List (low evidence)	ANKRD34A	2 reviews 1 red	Not set	Sources Expert Review Red UKGTN Phenotypes Thrombocytopenia Absent-Radius Syndrome Tags somatic
Red Red List (low evidence)	ANKRD35	2 reviews 1 red	Not set	Sources Expert Review Red UKGTN Phenotypes Thrombocytopenia Absent-Radius Syndrome Tags somatic
Red Red List (low evidence)	ARHGAP26	2 reviews 1 green	Unknown	Sources BRIDGE consortium (NIHRBR-RD) Expert Review Red Phenotypes Myelodysplastic syndrome (MDS), Paediatric Leukemia, juvenile myelomonocytic, somatic 607785 Tags somatic
Red Red List (low evidence)	ASXL1	2 reviews 1 green	Not set	Sources Expert Review Red Radboud University Medical Center, Nijmegen Phenotypes Bohring-Opitz syndrome, 605039 Myelodysplastic syndrome, somatic, 614286 juvenile myelomonocytic leukaemia aquired aplastic anaemia Tags somatic
Red Red List (low evidence)	BAAT	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Illumina TruGenome Clinical Sequencing Services Radboud University Medical Center, Nijmegen Phenotypes Hypercholanemia, familial, 607748 Hypercholanemia Tags
Red Red List (low evidence)	BCOR	2 reviews 1 green	Unknown	Sources BRIDGE consortium (NIHRBR-RD) Expert Review Red Phenotypes Acute myeloid leukaemia (AML) aquired aplastic anaemia Tags prognosis somatic treatable
Red Red List (low evidence)	BCORL1	2 reviews 1 green	Unknown	Sources BRIDGE consortium (NIHRBR-RD) Expert Review Red Phenotypes Acute myeloid leukaemia (AML) aquired aplastic anaemia Tags prognosis somatic treatable
Red Red List (low evidence)	BRAF	2 reviews 1 green	Unknown	Sources BRIDGE consortium (NIHRBR-RD) Expert Review Red Phenotypes Rasopathies Leukaemia Lymphoma Hairy cell leukemia (HCL) Tags somatic
Red Red List (low evidence)	CALR	2 reviews 1 green 1 red	Unknown	Sources BRIDGE consortium (NIHRBR-RD) Expert Review Red Phenotypes Myelofibrosis Essential thrombocythemia (ET) Myelofibrosis, somatic, 254450 Thrombocythemia, somatic,187950 Tags somatic
Red Red List (low evidence)	CBLB	2 reviews 1 green	Other - please specifiy in evaluation comments	Sources BRIDGE consortium (NIHRBR-RD) Expert Review Red Phenotypes Acute myeloid leukaemia (AML) Tags somatic
Red Red List (low evidence)	CBLC	2 reviews 1 green	Other - please specifiy in evaluation comments	Sources BRIDGE consortium (NIHRBR-RD) Expert Review Red Phenotypes Chronic Myeloid Leukemia (CML) Tags somatic
Red Red List (low evidence)	CD36	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Radboud University Medical Center, Nijmegen Phenotypes [Macrothrombocytopenia] (1) Tags
Red Red List (low evidence)	CDKN2A	2 reviews 1 green	Other - please specifiy in evaluation comments	Sources BRIDGE consortium (NIHRBR-RD) Expert Review Red Phenotypes Acute lymphoblastic leukemia (ALL) Tags somatic
Red Red List (low evidence)	CUX1	2 reviews 1 green 1 red	Unknown	Sources BRIDGE consortium (NIHRBR-RD) Expert Review Red Phenotypes Acute myeloid leukaemia (AML) Tags somatic
Red Red List (low evidence)	CYCS	1 review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Red Illumina TruGenome Clinical Sequencing Services Radboud University Medical Center, Nijmegen Phenotypes Thrombocytopenia 4, OMIM:612004 Tags
Red Red List (low evidence)	DNMT3A	2 reviews 1 green	Unknown	Sources BRIDGE consortium (NIHRBR-RD) Expert Review Red Phenotypes Myelodysplastic syndrome (MDS), Paediatric acute myeloid leukaemia aquired aplastic anaemia Tags somatic
Red Red List (low evidence)	ENO1	2 reviews 1 green	Unknown	Sources BRIDGE consortium (NIHRBR-RD) Expert Review Red Phenotypes Enzyme Disorder Enolase deficiency Tags
Red Red List (low evidence)	EPHX1	1 review 1 red	Not set	Sources Expert Review Red Radboud University Medical Center, Nijmegen Phenotypes ?Fetal hydantoin syndromeDiphenylhydantoin toxicityHypercholanemia, familial, 607748{Preeclampsia, susceptibility to}, 189800 Tags
Red Red List (low evidence)	EPO	2 reviews 1 red	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Red Literature Phenotypes DBA Diamond-Blackfan anemia-like (AR), 617911 Erythrocytosis, familial 5 (AD), 617907 Tags
Red Red List (low evidence)	EZH2	2 reviews 1 green 1 red	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources BRIDGE consortium (NIHRBR-RD) Expert Review Red Phenotypes Myelodysplastic syndrome (MDS), Paediatric Tags
Red Red List (low evidence)	FANCM	4 reviews 1 green 1 red	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 Tags
Red Red List (low evidence)	FBXW7	2 reviews 1 green	Unknown	Sources BRIDGE consortium (NIHRBR-RD) Expert Review Red Phenotypes Acute lymphoblastic leukemia (ALL) Tags somatic
Red Red List (low evidence)	FCGR3B	1 review 1 red	Other - please specify in evaluation comments	Sources Expert Review Red Radboud University Medical Center, Nijmegen Phenotypes Neutropenia,alloimmuneneonatal Tags
Red Red List (low evidence)	GNAS	2 reviews 1 green 1 red	Unknown	Sources BRIDGE consortium (NIHRBR-RD) Expert Review Red Phenotypes Acute myeloid leukaemia (AML) Tags somatic
Red Red List (low evidence)	GNRHR2	2 reviews 1 red	Not set	Sources Expert Review Red UKGTN Phenotypes Thrombocytopenia Absent-Radius Syndrome Tags locus-type-pseudogene somatic
Red Red List (low evidence)	GPX1	2 reviews 1 green 1 red	Unknown	Sources Expert Review Red Radboud University Medical Center, Nijmegen Phenotypes Hemolytic anemia due to glutathione peroxidase deficiency, 614164 Tags
Red Red List (low evidence)	GSR	2 reviews 1 green 1 red	Unknown	Sources BRIDGE consortium (NIHRBR-RD) Expert Review Red Phenotypes Enzyme Disorder Hemolytic anemia due to glutathione reductase deficiency Tags
Red Red List (low evidence)	HBG1	3 reviews 1 green 1 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources BRIDGE consortium (NIHRBR-RD) Expert Review Red UKGTN Phenotypes Fetal hemoglobin quantitative trait locus 1, OMIM:141749 Hereditary persistance of fetal haemoglobin Globin Disorder Tags
Red Red List (low evidence)	HBG2	3 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources BRIDGE consortium (NIHRBR-RD) Expert Review Red Phenotypes Fetal hemoglobin quantitative trait locus 1, OMIM:141749 Cyanosis, transient neonatal, OMIM:613977 Globin Disorder Tags
Red Red List (low evidence)	HEPH	1 review 1 red	Not set	Sources Expert Review Red UKGTN Tags
Red Red List (low evidence)	HFE2	3 reviews 1 red	Not set	Sources Expert Review Red UKGTN Phenotypes Thrombocytopenia Absent-Radius Syndrome Tags new-gene-name somatic
Red Red List (low evidence)	HRAS	2 reviews 1 green 1 red	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources BRIDGE consortium (NIHRBR-RD) Expert Review Red Phenotypes Myelodysplastic syndrome (MDS), Adult Tags
Red Red List (low evidence)	IDH1	2 reviews 1 green 1 red	Unknown	Sources BRIDGE consortium (NIHRBR-RD) Expert Review Red Phenotypes Acute myeloid leukaemia (AML) Tags somatic
Red Red List (low evidence)	IDH2	2 reviews 1 green 1 red	Unknown	Sources BRIDGE consortium (NIHRBR-RD) Expert Review Red Phenotypes Acute myeloid leukaemia (AML) Tags somatic
Red Red List (low evidence)	IFNG	1 review 1 red	Unknown	Sources Expert Review Red Illumina TruGenome Clinical Sequencing Services Phenotypes Aplastic Anemia Tags nucleotide-repeat-expansion
Red Red List (low evidence)	IRF1	1 review 1 red	Unknown	Sources Expert Review Red Radboud University Medical Center, Nijmegen Phenotypes Myelodysplastic syndrome, preleukemic Myelogenous leukemia, acute Gastric cancer, somatic, 613659 Nonsmall cell lung cancer, somatic, 211980 Tags somatic
Red Red List (low evidence)	ITGA10	2 reviews 1 red	Not set	Sources Expert Review Red UKGTN Phenotypes Thrombocytopenia Absent-Radius Syndrome Tags somatic
Red Red List (low evidence)	ITGA2B	1 review 1 red	Not set	Sources Expert Review Red Radboud University Medical Center, Nijmegen Phenotypes BAK platelet antigen Glanzmann thrombasthenia, 273800 Tags
Red Red List (low evidence)	ITGB3	1 review	Other - please specify in evaluation comments	Sources Expert Review Red Radboud University Medical Center, Nijmegen Phenotypes PL(A) platelet antigen Glanzmann thrombasthenia, 273800 Tags
Red Red List (low evidence)	JAK2	2 reviews 1 green 1 red	Other - please specify in evaluation comments	Sources BRIDGE consortium (NIHRBR-RD) Expert Review Red Phenotypes Myeloproliferative neoplasms (MPN) Acute myeloid leukaemia (AML) Tags somatic
Red Red List (low evidence)	JAK3	2 reviews 1 green 1 red	Unknown	Sources BRIDGE consortium (NIHRBR-RD) Expert Review Red Phenotypes Myelodysplastic syndrome (MDS), Paediatric Tags
Red Red List (low evidence)	KDM6A	2 reviews 1 green 1 red	Unknown	Sources BRIDGE consortium (NIHRBR-RD) Expert Review Red Phenotypes Acute myeloid leukaemia (AML) Tags somatic
Red Red List (low evidence)	KIT	2 reviews 1 green 1 red	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources BRIDGE consortium (NIHRBR-RD) Expert Review Red Phenotypes Leukemia, acute myeloid, somatic, OMIM:601626 Tags somatic
Red Red List (low evidence)	KMT2A	2 reviews 1 green 1 red	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources BRIDGE consortium (NIHRBR-RD) Expert Review Red Phenotypes Acute myeloid leukaemia (AML) Tags somatic
Red Red List (low evidence)	KRAS	2 reviews 1 green 1 red	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources BRIDGE consortium (NIHRBR-RD) Expert Review Red Phenotypes Myelodysplastic syndrome (MDS), Paediatric Tags
Red Red List (low evidence)	LIX1L	2 reviews 1 red	Not set	Sources Expert Review Red UKGTN Phenotypes Thrombocytopenia Absent-Radius Syndrome Tags somatic
Red Red List (low evidence)	MASTL	2 reviews 2 red	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Red Illumina TruGenome Clinical Sequencing Services Radboud University Medical Center, Nijmegen Phenotypes Thrombocytopenia severe aplastic anemia Tags
Red Red List (low evidence)	MPIG6B	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Literature Phenotypes ?Thrombocytopenia, anemia, and myelofibrosis 617441 Tags
Red Red List (low evidence)	MYD88	2 reviews 1 green 1 red	Not set	Sources Expert Review Red 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	1 review 1 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Red 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)	NF1	2 reviews 1 green 1 red	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources BRIDGE consortium (NIHRBR-RD) Expert Review Red Phenotypes Myelodysplastic syndrome (MDS), Paediatric 162200 Tags
Red Red List (low evidence)	NOP10	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Red Illumina TruGenome Clinical Sequencing Services Radboud University Medical Center, Nijmegen UKGTN Phenotypes Dyskeratosis congenita, autosomal recessive 1 224230 Tags
Red Red List (low evidence)	NOTCH1	3 reviews 1 green 1 red	Unknown	Sources BRIDGE consortium (NIHRBR-RD) Expert Review Red Phenotypes Acute lymphoblastic leukemia (ALL) Tags somatic
Red Red List (low evidence)	NRAS	2 reviews 1 green 1 red	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources BRIDGE consortium (NIHRBR-RD) Expert Review Red Phenotypes Myelodysplastic syndrome (MDS), Paediatric Tags
Red Red List (low evidence)	NUDT1	2 reviews 1 red	Not set	Sources Expert Review Red UKGTN Phenotypes Thrombocytopenia Absent-Radius Syndrome Tags somatic
Red Red List (low evidence)	PDGFRA	2 reviews 1 green	Unknown	Sources BRIDGE consortium (NIHRBR-RD) Expert Review Red Phenotypes Hypereosinophilic syndrome, idiopathic, resistant to imatinib, OMIM:607685 Tags somatic
Red Red List (low evidence)	PEX11B	2 reviews 1 red	Not set	Sources Expert Review Red UKGTN Phenotypes Thrombocytopenia Absent-Radius Syndrome Tags somatic
Red Red List (low evidence)	PHF6	2 reviews 1 green	Unknown	Sources BRIDGE consortium (NIHRBR-RD) Expert Review Red Phenotypes T-cell acute lymphoblastic leukemia Tags somatic
Red Red List (low evidence)	PIAS3	2 reviews 1 red	Not set	Sources Expert Review Red UKGTN Phenotypes Thrombocytopenia Absent-Radius Syndrome Tags somatic
Red Red List (low evidence)	PIGA	2 reviews 1 red	Not set	Sources Eligibility statement prior genetic testing Expert Review Red Radboud University Medical Center, Nijmegen Phenotypes Paroxysmal nocturnal hemoglobinuria, somatic, 300818 Tags Skewed X-inactivation somatic treatable
Red Red List (low evidence)	PIGT	1 review 1 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Red Radboud University Medical Center, Nijmegen Phenotypes ?Multiple congenital anomalies-hypotonia-seizures syndrome 3, 615398 ?Paroxysmal nocturnal hemoglobinuria 2, 615399 Tags somatic
Red Red List (low evidence)	POLR2C	2 reviews	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Red Literature Phenotypes thrombocytopenia, MONDO:0002049 Tags
Red Red List (low evidence)	POLR3GL	2 reviews 1 red	Not set	Sources Expert Review Red UKGTN Phenotypes Thrombocytopenia Absent-Radius Syndrome Tags somatic
Red Red List (low evidence)	PRKG1	2 reviews 1 green	Unknown	Sources BRIDGE consortium (NIHRBR-RD) Expert Review Red Phenotypes Enzyme Disorder Tags
Red Red List (low evidence)	PTEN	2 reviews 1 green 1 red	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources BRIDGE consortium (NIHRBR-RD) Expert Review Red Phenotypes Myelodysplastic syndrome (MDS), Adult Myelodysplastic syndrome (MDS), Paediatric Acute myeloid leukaemia (AML) Tags
Red Red List (low evidence)	PTPN11	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources BRIDGE consortium (NIHRBR-RD) Expert Review Red Phenotypes LEOPARD syndrome 1 151100 Metachondromatosis 156250 Noonan syndrome 1 163950 Myelodysplastic syndrome (MDS), Paediatric Tags
Red Red List (low evidence)	RAC2	1 review 1 red	Not set	Sources Expert Review Red Radboud University Medical Center, Nijmegen Phenotypes Neutrophil immunodeficiency syndrome, 608203 Tags
Red Red List (low evidence)	RAD21	2 reviews 1 green	Unknown	Sources BRIDGE consortium (NIHRBR-RD) Expert Review Red Phenotypes Acute myeloid leukaemia (AML) Especially in Down syndrome AML Tags somatic
Red Red List (low evidence)	RBM8A	2 reviews	Other - please specifiy in evaluation comments	Sources Expert Review Red Radboud University Medical Center, Nijmegen UKGTN Phenotypes Thrombocytopenia Absent-Radius Syndrome 274000 Tags currently-ngs-unreportable
Red Red List (low evidence)	RPL13	1 review	Unknown	Sources Expert list Expert Review Red Phenotypes Diamond-Blackfan anaemia Tags
Red Red List (low evidence)	RPL15	2 reviews 1 green 1 red	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources BRIDGE consortium (NIHRBR-RD) Expert Review Red Phenotypes ?Diamond-Blackfan anemia 12 615550 Tags
Red Red List (low evidence)	RPL18	1 review 1 red	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Literature Phenotypes Diamond-Blackfan anaemia Tags
Red Red List (low evidence)	RPL19	2 reviews 1 green	Unknown	Sources Expert Review Red UKGTN Phenotypes Diamond-Blackfan anemia Tags
Red Red List (low evidence)	RPL26	2 reviews 1 green 1 red	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert list Expert Review Red Phenotypes ?Diamond-Blackfan anemia 11 614900 Tags
Red Red List (low evidence)	RPL27	3 reviews 1 green	Unknown	Sources Expert Review Red UKGTN Phenotypes Diamond-Blackfan anemia ?Diamond-Blackfan anemia 16, 617408 Tags
Red Red List (low evidence)	RPL31	1 review	Unknown	Sources Expert list Expert Review Red Literature Tags
Red Red List (low evidence)	RPL35	1 review 1 red	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Literature Phenotypes Diamond-Blackfan anaemia Tags
Red Red List (low evidence)	RPL9	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Red UKGTN Phenotypes Diamond-Blackfan anemia Tags
Red Red List (low evidence)	RPS14	2 reviews 1 green 1 red	Not set	Sources Expert Review Red Radboud University Medical Center, Nijmegen Phenotypes Macrocyticanemia,refractory,dueto5qdeletion,somatic,153550 3 Macrocytic anemia, refractory, due to 5q deletion, somatic, 153550 -3 Tags somatic
Red Red List (low evidence)	RPS27	3 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Red UKGTN Phenotypes ?Diamond-Blackfan anemia 17, OMIM:617409 Tags
Red Red List (low evidence)	RPS28	1 review 1 red	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Literature Phenotypes Diamond Blackfan anemia 15 with mandibulofacial dysostosis, 606164 Tags
Red Red List (low evidence)	RUNX1	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert list Expert Review Red UKGTN Phenotypes Inherited Bone Marrow Failure Syndromes - Thrombocytopenia Familial MDS (Myelodysplastic syndromes) Platelet Disorder, Familial, With Associated Myeloid Malignancy Tags somatic
Red Red List (low evidence)	SETBP1	2 reviews 1 green 1 red	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources BRIDGE consortium (NIHRBR-RD) Expert Review Red Phenotypes Myelodysplastic syndrome (MDS), Paediatric Tags
Red Red List (low evidence)	SF3B1	2 reviews 1 green 1 red	Other - please specify in evaluation comments	Sources Expert Review Red Radboud University Medical Center, Nijmegen Phenotypes Myelodysplastic syndrome, somatic, 614286 Tags somatic
Red Red List (low evidence)	SH3BP1	2 reviews 1 green 1 red	Unknown	Sources BRIDGE consortium (NIHRBR-RD) Expert Review Red Phenotypes Myelodysplastic syndrome (MDS), Paediatric Tags
Red Red List (low evidence)	SLC34A1	1 review 1 red	Not set	Sources Expert Review Red Radboud University Medical Center, Nijmegen Phenotypes Nephrolithiasis/osteoporosis, hypophosphatemic, 1, 612286 Fanconi renotubular syndrome 2, 613388 Tags
Red Red List (low evidence)	SMC1A	2 reviews 1 green	Unknown	Sources BRIDGE consortium (NIHRBR-RD) Expert Review Red Phenotypes Acute Promyelocytic Leukemia Acute myeloid leukaemia (AML) Especially in Down syndrome AML Tags somatic
Red Red List (low evidence)	SMC3	2 reviews 1 green	Unknown	Sources BRIDGE consortium (NIHRBR-RD) Expert Review Red Phenotypes Acute myeloid leukaemia (AML) Especially in Down syndrome AML Tags somatic
Red Red List (low evidence)	SRP72	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert list Expert Review Red 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 watchlist
Red Red List (low evidence)	SRSF2	2 reviews 1 green 1 red	Unknown	Sources BRIDGE consortium (NIHRBR-RD) Expert Review Red Phenotypes Myelodysplastic syndrome (MDS), Paediatric Tags
Red Red List (low evidence)	STAG2	2 reviews 1 green	Unknown	Sources BRIDGE consortium (NIHRBR-RD) Expert Review Red Phenotypes Acute myeloid leukaemia (AML) Especially in Down syndrome AML Tags somatic
Red Red List (low evidence)	TET2	2 reviews 1 green 1 red	Other - please specify in evaluation comments	Sources Expert Review Red Radboud University Medical Center, Nijmegen Phenotypes Myelodysplastic syndrome, somatic, 614286 Tags somatic
Red Red List (low evidence)	TP53	2 reviews 1 green 1 red	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources BRIDGE consortium (NIHRBR-RD) Expert Review Red Phenotypes Myelodysplastic syndrome (MDS), Paediatric Tags
Red Red List (low evidence)	TSR2	1 review 1 red	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Literature Phenotypes ?Diamond-Blackfan anemia 14 with mandibulofacial dysostosis, 300946 Tags
Red Red List (low evidence)	TUBB1	1 review 1 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Red Radboud University Medical Center, Nijmegen Phenotypes Macrothrombocytopenia, autosomal dominant, TUBB1-related, 613112 Tags
Red Red List (low evidence)	TXNIP	1 review	Not set	Sources Expert Review Red UKGTN Phenotypes Thrombocytopenia Absent-Radius Syndrome Tags
Red Red List (low evidence)	U2AF1	2 reviews 1 green	Unknown	Sources BRIDGE consortium (NIHRBR-RD) Expert Review Red Phenotypes Acute myeloid leukaemia (AML) Myelodysplastic syndrome (MDS) Tags somatic
Red Red List (low evidence)	USB1	2 reviews 1 green	Not set	Sources Expert list Expert Review Red Phenotypes Poikiloderma with neutropenia 604173 Dyskeratosis congenita Tags
Red Red List (low evidence)	USP18	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Other Phenotypes Pseudo-TORCH syndrome 2, 617397 (includes Thrombocytopenia) Tags
Red Red List (low evidence)	WT1	2 reviews 1 green	Unknown	Sources BRIDGE consortium (NIHRBR-RD) Expert Review Red Phenotypes Acute myeloid leukaemia (AML) Tags somatic
Red Red List (low evidence)	ZRSR2	2 reviews 1 green	Unknown	Sources BRIDGE consortium (NIHRBR-RD) Expert Review Red Phenotypes Acute myeloid leukaemia (AML) Chronic Myeloid Leukemia (CML) Tags somatic
No list No list	RAD51	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Literature Phenotypes Fanconi anemia, atypical Tags
No list No list	RFWD3	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Literature Phenotypes Fanconi anemia Tags
No list No list	SLC46A1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Literature Phenotypes Folate malabsorption anemia pancytopenia Tags

Major version comments

Promoted to V1 on 11 March 2017, after internal review and discussion with the clinical team.

Cytopenias and congenital anaemias (Version 1.118)

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