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

11 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

215 genes

215 reviewed, 95 green

List Gene Reviews Mode of inheritance Details
215 genes
Green Green List (high evidence)
ABCB7
2 reviews
2 green
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • Radboud University Medical Center, Nijmegen
  • Illumina TruGenome Clinical Sequencing Services
  • Expert Review Green
Phenotypes
  • Sideroblastic Anemia and Ataxia
  • Anemia, sideroblastic, with ataxia, 301310
Tags
  • missense
Green Green List (high evidence)
ADAMTS13
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Illumina TruGenome Clinical Sequencing Services
Phenotypes
  • Familial Thrombotic Thrombocytopenia Purpura
  • Thrombotic thrombocytopenic purpura, familial, 274150
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
Green Green List (high evidence)
ALAS2
2 reviews
2 green
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • Expert Review Green
  • Eligibility statement prior genetic testing
  • Illumina TruGenome Clinical Sequencing Services
  • UKGTN
Phenotypes
  • Anemia, sideroblastic, 1 300751
Tags
  • missense
Green Green List (high evidence)
ALDOA
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Illumina TruGenome Clinical Sequencing Services
  • Radboud University Medical Center, Nijmegen
  • BRIDGE consortium (NIHRBR-RD)
Phenotypes
  • Enzyme Disorder
  • Glycogen storage disease
  • Glycogen storage disease XII, 611881
  • Aldolase A deficiency
  • Glycogen storage disease due to aldolase A deficiency
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
  • Illumina TruGenome Clinical Sequencing Services
  • BRIDGE consortium (NIHRBR-RD)
  • Expert Review Green
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • RBC membrane abnormality
  • Spherocytosis, type 1,182900
Green Green List (high evidence)
BRCA2
2 reviews
2 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Illumina TruGenome Clinical Sequencing Services
  • UKGTN
  • Expert Review Green
Phenotypes
  • Fanconi anemia, complementation group D1 605724
Green Green List (high evidence)
BRIP1
2 reviews
2 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert list
  • Illumina TruGenome Clinical Sequencing Services
  • UKGTN
Phenotypes
  • Fanconi anemia, complementation group J 609054
Green Green List (high evidence)
C15orf41
3 reviews
2 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Eligibility statement prior genetic testing
  • UKGTN
Phenotypes
  • Congenital Dyserythropoietic Anemia
  • Dyserythropoietic anemia, congenital, type Ib 615631
Tags
  • missense
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
Green Green List (high evidence)
CDAN1
2 reviews
2 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Eligibility statement prior genetic testing
  • UKGTN
  • Illumina TruGenome Clinical Sequencing Services
  • Expert Review Green
Phenotypes
  • Dyserythropoietic anemia, congenital, type Ia 224120
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
Green Green List (high evidence)
CTC1
2 reviews
2 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • UKGTN
  • Illumina TruGenome Clinical Sequencing Services
  • Expert list
Phenotypes
  • Inherited Bone Marrow Failure Syndromes
  • Dyskeratosis congenita
  • Dyskeratosis Congenita, Recessive
  • Cerebroretinal microangiopathy with calcifications and cysts/CTC1 related Dyskeratosis Congenita
Green Green List (high evidence)
CUBN
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Radboud University Medical Center, Nijmegen
  • Expert Review Green
  • Illumina TruGenome Clinical Sequencing Services
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 Review Green
  • Radboud University Medical Center, Nijmegen
  • Expert list
Phenotypes
  • WHIM syndrome, 193670
  • Warts, hypogammaglobulinemia, infections, and myelokathexis, Myelokathexis, isolated
  • Severe congenital neutropenia
Green Green List (high evidence)
DHFR
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Radboud University Medical Center, Nijmegen
  • Expert Review Green
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
  • Expert Review Green
  • UKGTN
  • Expert list
  • Eligibility statement prior genetic testing
  • Emory Genetics Laboratory
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Dyskeratosis congenita
  • Dyskeratosis congenita, X-linked, 305000
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
Green Green List (high evidence)
ELANE
2 reviews
2 green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Radboud University Medical Center, Nijmegen
  • UKGTN
  • Expert list
  • Expert Review Green
Phenotypes
  • Neutropenia, cyclic 162800
  • Neutropenia, severe congenital 1, autosomal dominant 202700
Green Green List (high evidence)
EPB41
2 reviews
1 green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Literature
  • Radboud University Medical Center, Nijmegen
  • BRIDGE consortium (NIHRBR-RD)
  • Expert Review Green
Phenotypes
  • RBC membrane abnormality
  • Elliptocytosis
  • Elliptocytosis-1,611804
  • Hereditary elliptocytosis
Green Green List (high evidence)
EPB42
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Illumina TruGenome Clinical Sequencing Services
  • Radboud University Medical Center, Nijmegen
  • BRIDGE consortium (NIHRBR-RD)
Phenotypes
  • RBC membrane abnormality
  • Elliptocytosis
  • Spherocytosis, type 5, 612690
  • Hereditary spherocytosis type 5
  • Minkowski-Chauffard disease
  • Spherocytosis, Recessive
  • EPB42-related hereditary spherocytosis
Green Green List (high evidence)
ERCC4
4 reviews
3 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • UKGTN
  • Expert Review Green
  • Literature
Phenotypes
  • Fanconi anemia, complementation group Q, 615272
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
Green Green List (high evidence)
FANCA
2 reviews
2 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • UKGTN
  • Expert Review Green
  • Expert list
  • Illumina TruGenome Clinical Sequencing Services
Phenotypes
  • Fanconi anemia, complementation group A, 227650
  • Fanconi anemia
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
  • Illumina TruGenome Clinical Sequencing Services
  • Expert Review Green
  • Expert list
  • UKGTN
  • Emory Genetics Laboratory
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Falcon anemia
  • Fanconi anemia, complementation group B, 300514
  • Fanconi Anemia, X-Linked
  • Fanconi Anemia Type B
  • Fanconi Anaemia
Green Green List (high evidence)
FANCC
2 reviews
2 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert list
  • Illumina TruGenome Clinical Sequencing Services
  • UKGTN
Phenotypes
  • Fanconi Anemia
  • Fanconi anemia, complementation group C, 227645
Green Green List (high evidence)
FANCD2
2 reviews
2 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • UKGTN
  • Expert Review Green
  • Expert list
  • Illumina TruGenome Clinical Sequencing Services
Phenotypes
  • Fanconi Anemia
  • Fanconi anemia, complementation group D2, 227646
Green Green List (high evidence)
FANCE
2 reviews
2 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert list
  • Illumina TruGenome Clinical Sequencing Services
  • UKGTN
Phenotypes
  • Fanconi Anemia
  • Fanconi anemia, complementation group E, 600901
Green Green List (high evidence)
FANCF
2 reviews
2 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • UKGTN
  • Expert Review Green
  • Expert list
  • Illumina TruGenome Clinical Sequencing Services
Phenotypes
  • Fanconi Anemia
  • Fanconi anemia, complementation group F, 603467
Green Green List (high evidence)
FANCG
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert list
  • Illumina TruGenome Clinical Sequencing Services
  • UKGTN
Phenotypes
  • Fanconi Anemia
  • Fanconi anemia, complementation group G, 614082
Green Green List (high evidence)
FANCI
2 reviews
2 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • UKGTN
  • Expert Review Green
  • Expert list
  • Illumina TruGenome Clinical Sequencing Services
Phenotypes
  • Fanconi Anemia
  • Fanconi anemia, complementation group I, 609053
Green Green List (high evidence)
FANCL
2 reviews
2 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert list
  • Illumina TruGenome Clinical Sequencing Services
  • UKGTN
Phenotypes
  • Fanconi Anemia
  • Fanconi anemia, complementation group L, 614083
Green Green List (high evidence)
G6PC3
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Illumina TruGenome Clinical Sequencing Services
  • Radboud University Medical Center, Nijmegen
  • UKGTN
  • Expert list
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
Green Green List (high evidence)
G6PD
1 review
1 green
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Sources
  • Expert Review Green
  • UKGTN
  • Illumina TruGenome Clinical Sequencing Services
  • Emory Genetics Laboratory
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Hemolytic anemia due to G6PD deficiency, 300908
  • Enzyme Disorder
Green Green List (high evidence)
GATA1
3 reviews
2 green
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • Expert Review Green
  • UKGTN
  • Eligibility statement prior genetic testing
  • Radboud University Medical Center, Nijmegen
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
Green Green List (high evidence)
GATA2
2 reviews
1 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Illumina TruGenome Clinical Sequencing Services
  • Radboud University Medical Center, Nijmegen
  • Expert list
  • Expert Review Green
  • 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-germline
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
Green Green List (high evidence)
GFI1
3 reviews
1 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Radboud University Medical Center, Nijmegen
  • Illumina TruGenome Clinical Sequencing Services
  • UKGTN
  • Expert list
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
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
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
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
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
  • Globin Disorder
  • Erythremias, alpha-
  • Heinz body anemias, alpha-, 140700
  • Hemoglobin H disease, nondeletional, 613978
  • Methemoglobinemias, alpha-
  • Thalassemias, alpha-, 604131
Tags
  • non-coding-known-pathogenic
  • cnv
  • deletions
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
  • Globin Disorder
  • Erythrocytosis
  • Heinz body anemia,140700
  • Hemoglobin H disease, nondeletional, 613978
  • Hypochromic microcytic anemia
  • Thalassemia, alpha-, 60413
Tags
  • cnv
  • structural-variant
Green Green List (high evidence)
HBB
4 reviews
2 green
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert list
  • Illumina TruGenome Clinical Sequencing Services
  • UKGTN
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Globin Disorder
  • Delta-beta thalassemia (MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown), 141749
  • Erythremias, beta-
  • Heinz body anemias, beta- (MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown), 140700
  • Hereditary persistence of fetal hemoglobin,(MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown),141749
  • Methemoglobinemias, beta-
  • Sickle cell anemia (BIALLELIC, autosomal or pseudoautosomal),603903
  • Thalassemia-beta, dominant inclusion-body, 603902
  • Thalassemias, beta-,(BIALLELIC, autosomal or pseudoautosomal), 613985
Tags
  • gene-therapy-trial
  • cnv
Green Green List (high evidence)
HK1
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Enzyme Disorder
  • Hemolytic anemia due to hexokinase deficiency, 235700
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)
Green Green List (high evidence)
KLF1
1 review
1 green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • UKGTN
  • Radboud University Medical Center, Nijmegen
  • Illumina TruGenome Clinical Sequencing Services
Phenotypes
  • Congenital Dyserythropoietic Anemia
  • Dyserythropoietic anemia, congenital, type IV, 613673
Green Green List (high evidence)
LPIN2
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • BRIDGE consortium (NIHRBR-RD)
  • Expert Review Green
  • Literature
  • Radboud University Medical Center, Nijmegen
  • Illumina TruGenome Clinical Sequencing Services
Phenotypes
  • Microcytic anemia
  • Congenital dyserythropoietic anemia
  • CDA
  • Majeed syndrome, 609628
Green Green List (high evidence)
MPL
3 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • UKGTN
  • Expert list
  • Radboud University Medical Center, Nijmegen
  • Illumina TruGenome Clinical Sequencing Services
Phenotypes
  • Inherited Bone Marrow Failure Syndromes - Thrombocytopenia
  • Congenital amegkaryocytic thrombocytopenia
  • Congenital Amegakaryocytic Thrombocytopenia
  • Amegakaryocytic Thrombocytopenia, Congenital
  • Thrombocytopenia, congenital amegakaryocytic, 604498
Tags
  • somatic-germline
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
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
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
Green Green List (high evidence)
NT5C3A
3 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Radboud University Medical Center, Nijmegen
  • UKGTN
  • Expert Review Green
Phenotypes
  • Anemia, hemolytic, due to UMPH1 deficiency 266120
Green Green List (high evidence)
PALB2
2 reviews
2 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • UKGTN
  • Expert Review Green
  • Expert list
  • Illumina TruGenome Clinical Sequencing Services
Phenotypes
  • Fanconi anemia, complementation group N 610832
Green Green List (high evidence)
PFKM
3 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • BRIDGE consortium (NIHRBR-RD)
  • Expert Review Green
  • Radboud University Medical Center, Nijmegen
  • Illumina TruGenome Clinical Sequencing Services
Phenotypes
  • Glycogen storage disease VII, 232800
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
  • Stomatocytosis
  • Dehydrated hereditary stomatocytosis
  • Dehydrated hereditary stomatocytosis with or without pseudohyperkalemia and/or perinatal edema, 194380
  • Hereditary xerocytosis
Green Green List (high evidence)
PKLR
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • UKGTN
Phenotypes
  • PYRUVATE KINASE DEFICIENCY
  • Enzyme Disorder
  • Pyruvate kinase deficiency, 266200
Green Green List (high evidence)
PUS1
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Radboud University Medical Center, Nijmegen
  • Illumina TruGenome Clinical Sequencing Services
Phenotypes
  • Myopathy, Lactic Acidosis, and Sideroblastic Anemia, 600462
Green Green List (high evidence)
RHAG
2 reviews
1 green
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert list
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Stomatocytosis
  • Overhydrated hereditary stomatocytosis (MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown), 185000
  • Anemia, hemolytic, Rh-null, regulator type (BIALLELIC, autosomal or pseudoautosomal), 268150
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
Green Green List (high evidence)
RPL11
2 reviews
1 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • UKGTN
  • Expert Review Green
  • Illumina TruGenome Clinical Sequencing Services
  • Radboud University Medical Center, Nijmegen
  • Expert list
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
Green Green List (high evidence)
RPL35A
2 reviews
1 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Illumina TruGenome Clinical Sequencing Services
  • Radboud University Medical Center, Nijmegen
  • Expert list
  • UKGTN
  • Expert Review Green
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
Green Green List (high evidence)
RPL5
2 reviews
1 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Illumina TruGenome Clinical Sequencing Services
  • Radboud University Medical Center, Nijmegen
  • Expert list
  • 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
Green Green List (high evidence)
RPS10
2 reviews
1 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert list
  • UKGTN
  • Expert Review Green
  • Illumina TruGenome Clinical Sequencing Services
  • Radboud University Medical Center, Nijmegen
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
Green Green List (high evidence)
RPS17
2 reviews
2 green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Radboud University Medical Center, Nijmegen
  • UKGTN
  • Expert Review Green
  • Expert list
Phenotypes
  • Diamond-Blackfan anemia 4 612527
Green Green List (high evidence)
RPS19
2 reviews
1 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Illumina TruGenome Clinical Sequencing Services
  • Radboud University Medical Center, Nijmegen
  • Expert list
  • 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
Green Green List (high evidence)
RPS24
2 reviews
1 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Illumina TruGenome Clinical Sequencing Services
  • Radboud University Medical Center, Nijmegen
  • Expert list
  • 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
  • Radboud University Medical Center, Nijmegen
  • Expert list
  • UKGTN
  • Expert Review Green
  • Illumina TruGenome Clinical Sequencing Services
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
Green Green List (high evidence)
RPS7
2 reviews
1 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Illumina TruGenome Clinical Sequencing Services
  • Radboud University Medical Center, Nijmegen
  • Expert list
  • 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
Green Green List (high evidence)
RTEL1
2 reviews
2 green
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • UKGTN
  • Radboud University Medical Center, Nijmegen
  • Expert list
Phenotypes
  • Dyskeratosis congenita, autosomal recessive 5 615190
  • Dyskeratosis congenita, autosomal dominant 4 615190
Green Green List (high evidence)
SAMD9
1 review
1 green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Literature
  • Expert Review Green
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
Green Green List (high evidence)
SBDS
2 reviews
2 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Eligibility statement prior genetic testing
  • Expert Review Green
  • UKGTN
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Shwachman-Diamond syndrome 260400
Green Green List (high evidence)
SEC23B
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Emory Genetics Laboratory
  • Expert Review Green
  • UKGTN
  • Radboud University Medical Center, Nijmegen
  • Illumina TruGenome Clinical Sequencing Services
Phenotypes
  • Congenital dyserythropoietic anemia type II
  • Congenital Dyserythropoietic Anemia
  • Anemia, dyserythropoieticcongenital, type II, 224100
  • ANEMIA, DYSERYTHROPOIETIC CONGENITAL, TYPE II
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
Green Green List (high evidence)
SLC19A2
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Radboud University Medical Center, Nijmegen
  • Illumina TruGenome Clinical Sequencing Services
  • Expert Review Green
Phenotypes
  • Thiamine-Responsive Megaloblastic Anemia syndrome 249270
Tags
  • treatable
Green Green List (high evidence)
SLC25A38
2 reviews
2 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Eligibility statement prior genetic testing
  • UKGTN
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Anemia, sideroblastic, 2, pyridoxine-refractory 205950
Green Green List (high evidence)
SLC2A1
2 reviews
1 green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • Literature
  • BRIDGE consortium (NIHRBR-RD)
Phenotypes
  • Stomatocytosis
  • Pyridoxine-refractory sideroblastic anemia
Green Green List (high evidence)
SLC4A1
2 reviews
1 green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Illumina TruGenome Clinical Sequencing Services
  • Expert Review Green
Phenotypes
  • Haemolytic Anemia
  • RBC membrane abnormality
  • Cryohydrocytosis,185020
  • Ovalocytosis, SA type, 166900
  • Spherocytosis, type 4, 612653
Green Green List (high evidence)
SLX4
2 reviews
2 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert list
  • Illumina TruGenome Clinical Sequencing Services
  • UKGTN
Phenotypes
  • Fanconi Anemia
  • Fanconi anemia, complementation group P, 613951
Green Green List (high evidence)
SPTA1
2 reviews
1 green
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Illumina TruGenome Clinical Sequencing Services
  • Radboud University Medical Center, Nijmegen
  • BRIDGE consortium (NIHRBR-RD)
  • Expert Review Green
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
Green Green List (high evidence)
SPTB
2 reviews
1 green
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Illumina TruGenome Clinical Sequencing Services
  • Radboud University Medical Center, Nijmegen
  • BRIDGE consortium (NIHRBR-RD)
Phenotypes
  • RBC membrane abnormality
  • Elliptocytosis
  • Spherocytosis,616649
  • Anemia, neonatal hemolytic, fatal and near-fatal
Green Green List (high evidence)
TAZ
2 reviews
1 green
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • Expert Review Green
  • UKGTN
Phenotypes
  • Barth syndrome 302060
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.
Green Green List (high evidence)
TERT
4 reviews
2 green
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • UKGTN
  • Radboud University Medical Center, Nijmegen
  • Expert list
  • Illumina TruGenome Clinical Sequencing Services
  • Eligibility statement prior genetic testing
Phenotypes
  • Aplastic Anemia
  • Coronary artery disease
  • {Dyskeratosis congenita, autosomal recessive 4}, 613989
  • {Dyskeratosis congenita, autosomal dominant 2}, 613989
  • {Pulmonary fibrosis, telomere-related, 1}, 614742
  • {Leukemia, acute myeloid}, 601626
  • {Melanoma, cutaneous malignant, 9}, 615134
Green Green List (high evidence)
TF
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Radboud University Medical Center, Nijmegen
  • Literature
  • Illumina TruGenome Clinical Sequencing Services
  • UKGTN
Phenotypes
  • Atransferrinemia, 209300
  • Congenital hypotransferrinemia
Green Green List (high evidence)
TMPRSS6
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Radboud University Medical Center, Nijmegen
  • Illumina TruGenome Clinical Sequencing Services
  • UKGTN
  • Expert Review Green
Phenotypes
  • Iron-Refractory Iron Deficiency Anemia
  • Iron refractoryirondeficiencyanemia,206200
Green Green List (high evidence)
TPI1
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
  • Illumina TruGenome Clinical Sequencing Services
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Hemolytic anemia due to triosephosphate isomerase deficiency,615512
  • Enzyme Disorder
Green Green List (high evidence)
UBE2T
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Radboud University Medical Center, Nijmegen
  • BRIDGE consortium (NIHRBR-RD)
Phenotypes
  • Falcon anemia
  • Fanconi anemia, complementation group T, 616435
Green Green List (high evidence)
UROS
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert Review
Phenotypes
  • Porphyria, congenital erythropoietic 263700
Tags
  • treatable
Green Green List (high evidence)
VPS45
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Radboud University Medical Center, Nijmegen
  • Expert Review Green
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 Review Green
  • Expert list
  • UKGTN
  • Radboud University Medical Center, Nijmegen
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
Green Green List (high evidence)
YARS2
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Radboud University Medical Center, Nijmegen
  • Illumina TruGenome Clinical Sequencing Services
Phenotypes
  • Myopathy, lactic acidosis, and sideroblastic anemia 2 613561
Amber Amber List (moderate evidence)
ATRX
3 reviews
1 green
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • Expert Review Amber
  • BRIDGE consortium (NIHRBR-RD)
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
  • Expert Review Amber
  • BRIDGE consortium (NIHRBR-RD)
Phenotypes
  • Fanconi anemia
Amber Amber List (moderate evidence)
CBL
2 reviews
1 green
Unknown
Sources
  • Expert Review Amber
  • BRIDGE consortium (NIHRBR-RD)
Phenotypes
  • Myelodysplastic syndrome (MDS), Paediatric
  • Noonan syndrome-like disorder with or without juvenile myelomonocytic leukemia
Amber Amber List (moderate evidence)
CEBPA
3 reviews
1 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Amber
  • Expert list
Phenotypes
  • Familial MDS (Myelodysplastic syndromes)
  • acute myeloid leukemia (AML)
Tags
  • somatic-germline
Amber Amber List (moderate evidence)
COX4I2
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Radboud University Medical Center, Nijmegen
  • Illumina TruGenome Clinical Sequencing Services
Phenotypes
  • Exocrine Pancreatic Insufficiency, Dyserythropoietic Anemia, andCalvarial Hyperostosis
  • Exocrine pancreatic insufficiency, dyserythropoietic anemia, and calvarial hyperostosis, 612714
Amber Amber List (moderate evidence)
FLT3
2 reviews
1 green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Amber
  • BRIDGE consortium (NIHRBR-RD)
Phenotypes
  • Myelodysplastic syndrome (MDS), Paediatric
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
Amber Amber List (moderate evidence)
HBD
1 review
Unknown
Sources
  • Expert Review Amber
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Thalassemia,delta
  • ThalassemiaduetoHbLepore
Amber Amber List (moderate evidence)
HOXA11
1 review
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Amber
  • Expert list
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Congenital amegkaryocytic thrombocytopenia
  • Radioulnar synostosis with amegakaryocytic thrombocytopenia, 605432
Amber Amber List (moderate evidence)
IKZF1
2 reviews
1 green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Amber
  • BRIDGE consortium (NIHRBR-RD)
Phenotypes
  • Acute lymphoblastic leukemia (ALL)
  • Immunodeficiency, common variable, 13 616873
Tags
  • somatic-germline
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)
NHP2
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Illumina TruGenome Clinical Sequencing Services
  • Radboud University Medical Center, Nijmegen
  • Expert list
  • Expert Review Amber
  • UKGTN
Phenotypes
  • Dyskeratosis congenita, autosomal recessive 2 613987
Amber Amber List (moderate evidence)
RAD51C
3 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Expert list
  • Illumina TruGenome Clinical Sequencing Services
  • UKGTN
Phenotypes
  • Fanconi anemia, complementation group O 613390
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
Amber Amber List (moderate evidence)
TERC
3 reviews
1 green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Amber
  • UKGTN
  • Expert list
  • Eligibility statement prior genetic testing
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
  • UKGTN
  • Radboud University Medical Center, Nijmegen
  • Illumina TruGenome Clinical Sequencing Services
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
Amber Amber List (moderate evidence)
WRAP53
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • UKGTN
  • Illumina TruGenome Clinical Sequencing Services
  • Radboud University Medical Center, Nijmegen
  • Expert list
Phenotypes
  • Inherited Bone Marrow Failure Syndromes
  • Dyskeratosis congenita
  • Dyskeratosis congenita, autosomal recessive 3, 613988
  • Dyskeratosis Congenita, Recessive
  • Dyskeratosis Congenita, Autosomal Recessive, 3
Red Red List (low evidence)
ABL1
2 reviews
1 green
Unknown
Sources
  • Expert Review Red
  • BRIDGE consortium (NIHRBR-RD)
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
Red Red List (low evidence)
ANKRD26
1 review
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Red
  • Expert list
  • 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
  • Expert Review Red
  • BRIDGE consortium (NIHRBR-RD)
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
Red Red List (low evidence)
BCOR
2 reviews
1 green
Unknown
Sources
  • Expert Review Red
  • BRIDGE consortium (NIHRBR-RD)
Phenotypes
  • Acute myeloid leukaemia (AML)
  • aquired aplastic anaemia
Tags
  • somatic
  • treatable
  • prognosis
Red Red List (low evidence)
BCORL1
2 reviews
1 green
Unknown
Sources
  • Expert Review Red
  • BRIDGE consortium (NIHRBR-RD)
Phenotypes
  • Acute myeloid leukaemia (AML)
  • aquired aplastic anaemia
Tags
  • somatic
  • treatable
  • prognosis
Red Red List (low evidence)
BRAF
2 reviews
1 green
Unknown
Sources
  • Expert Review Red
  • BRIDGE consortium (NIHRBR-RD)
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
  • Expert Review Red
  • BRIDGE consortium (NIHRBR-RD)
Phenotypes
  • Acute myeloid leukaemia (AML)
Tags
  • somatic
Red Red List (low evidence)
CBLC
2 reviews
1 green
Other - please specifiy in evaluation comments
Sources
  • Expert Review Red
  • BRIDGE consortium (NIHRBR-RD)
Phenotypes
  • Chronic Myeloid Leukemia (CML)
Tags
  • somatic
Red Red List (low evidence)
CD36
1 review
1 red
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Radboud University Medical Center, Nijmegen
  • Expert Review Red
Phenotypes
  • [Macrothrombocytopenia] (1)
Red Red List (low evidence)
CDKN2A
2 reviews
1 green
Other - please specifiy in evaluation comments
Sources
  • Expert Review Red
  • BRIDGE consortium (NIHRBR-RD)
Phenotypes
  • Acute lymphoblastic leukemia (ALL)
Tags
  • somatic
Red Red List (low evidence)
CUX1
2 reviews
1 green 1 red
Unknown
Sources
  • Expert Review Red
  • BRIDGE consortium (NIHRBR-RD)
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, 612004
Red Red List (low evidence)
DNMT3A
2 reviews
1 green
Unknown
Sources
  • Expert Review Red
  • BRIDGE consortium (NIHRBR-RD)
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
  • Expert Review Red
  • BRIDGE consortium (NIHRBR-RD)
Phenotypes
  • Enzyme Disorder
  • Enolase deficiency
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
Red Red List (low evidence)
EZH2
2 reviews
1 green 1 red
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Red
  • BRIDGE consortium (NIHRBR-RD)
Phenotypes
  • Myelodysplastic syndrome (MDS), Paediatric
Red Red List (low evidence)
FANCM
4 reviews
1 green 1 red
BIALLELIC, autosomal or pseudoautosomal
Sources
  • UKGTN
  • Expert Review Red
  • Expert list
  • Illumina TruGenome Clinical Sequencing Services
Phenotypes
  • Fanconi Anemia
  • Fanconi anemia, complementation group M, 614087
Red Red List (low evidence)
FBXW7
2 reviews
1 green
Unknown
Sources
  • Expert Review Red
  • BRIDGE consortium (NIHRBR-RD)
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
Red Red List (low evidence)
GNAS
2 reviews
1 green 1 red
Unknown
Sources
  • Expert Review Red
  • BRIDGE consortium (NIHRBR-RD)
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
Red Red List (low evidence)
GSR
2 reviews
1 green 1 red
Unknown
Sources
  • Expert Review Red
  • BRIDGE consortium (NIHRBR-RD)
Phenotypes
  • Enzyme Disorder
  • Hemolytic anemia due to glutathione reductase deficiency
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
  • Globin Disorder
  • Fetal hemoglobin quantitative trait locus 1, 141749
Red Red List (low evidence)
HBG2
3 reviews
1 green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Red
  • BRIDGE consortium (NIHRBR-RD)
Phenotypes
  • Globin Disorder
  • Cyanosis, transient neonatal, 613977
  • Fetal hemoglobin quantitative trait locus 1,141749
Red Red List (low evidence)
HEPH
1 review
1 red
Not set
Sources
  • Expert Review Red
  • UKGTN
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
  • Expert Review Red
  • BRIDGE consortium (NIHRBR-RD)
Phenotypes
  • Myelodysplastic syndrome (MDS), Adult
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
  • Expert Review Red
  • BRIDGE consortium (NIHRBR-RD)
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
  • Radboud University Medical Center, Nijmegen
  • Expert Review Red
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
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
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
  • Expert Review Red
  • BRIDGE consortium (NIHRBR-RD)
Phenotypes
  • Myelodysplastic syndrome (MDS), Paediatric
Red Red List (low evidence)
KDM6A
2 reviews
1 green 1 red
Unknown
Sources
  • Expert Review Red
  • BRIDGE consortium (NIHRBR-RD)
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
  • Acute myeloid leukaemia (AML)
Tags
  • somatic
Red Red List (low evidence)
KMT2A
2 reviews
1 green 1 red
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Red
  • BRIDGE consortium (NIHRBR-RD)
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
  • Expert Review Red
  • BRIDGE consortium (NIHRBR-RD)
Phenotypes
  • Myelodysplastic syndrome (MDS), Paediatric
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
  • Radboud University Medical Center, Nijmegen
  • Illumina TruGenome Clinical Sequencing Services
Phenotypes
  • Thrombocytopenia
  • severe aplastic anemia
Red Red List (low evidence)
MPIG6B
1 review
1 red
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Literature
Phenotypes
  • ?Thrombocytopenia, anemia, and myelofibrosis 617441
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
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
Red Red List (low evidence)
NF1
2 reviews
1 green 1 red
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Red
  • BRIDGE consortium (NIHRBR-RD)
Phenotypes
  • Myelodysplastic syndrome (MDS), Paediatric
  • 162200
Red Red List (low evidence)
NOP10
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • UKGTN
  • Illumina TruGenome Clinical Sequencing Services
  • Radboud University Medical Center, Nijmegen
  • Expert list
Phenotypes
  • Dyskeratosis congenita, autosomal recessive 1 224230
Red Red List (low evidence)
NOTCH1
3 reviews
1 green 1 red
Unknown
Sources
  • Expert Review Red
  • BRIDGE consortium (NIHRBR-RD)
Phenotypes
  • Acute lymphoblastic leukemia (ALL)
Tags
  • somatic
Red Red List (low evidence)
NPM1
2 reviews
1 green 1 red
Unknown
Sources
  • Expert Review Red
  • BRIDGE consortium (NIHRBR-RD)
Phenotypes
  • Acute myeloid leukaemia (AML)
Tags
  • somatic
Red Red List (low evidence)
NRAS
2 reviews
1 green 1 red
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Red
  • BRIDGE consortium (NIHRBR-RD)
Phenotypes
  • Myelodysplastic syndrome (MDS), Paediatric
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
  • Expert Review Red
  • BRIDGE consortium (NIHRBR-RD)
Phenotypes
  • Hypereosinophilic syndrome, idiopathic, resistant to imatinib 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
  • Expert Review Red
  • BRIDGE consortium (NIHRBR-RD)
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
  • Expert Review Red
  • Radboud University Medical Center, Nijmegen
  • Eligibility statement prior genetic testing
Phenotypes
  • Paroxysmal nocturnal hemoglobinuria, somatic, 300818
Tags
  • 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-germline
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
  • Expert Review Red
  • BRIDGE consortium (NIHRBR-RD)
Phenotypes
  • Enzyme Disorder
Red Red List (low evidence)
PTEN
2 reviews
1 green 1 red
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Red
  • BRIDGE consortium (NIHRBR-RD)
Phenotypes
  • Myelodysplastic syndrome (MDS), Adult
  • Myelodysplastic syndrome (MDS), Paediatric
  • Acute myeloid leukaemia (AML)
Red Red List (low evidence)
PTPN11
2 reviews
1 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Red
  • BRIDGE consortium (NIHRBR-RD)
Phenotypes
  • LEOPARD syndrome 1 151100
  • Metachondromatosis 156250
  • Noonan syndrome 1 163950
  • Myelodysplastic syndrome (MDS), Paediatric
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
Red Red List (low evidence)
RAD21
2 reviews
1 green
Unknown
Sources
  • Expert Review Red
  • BRIDGE consortium (NIHRBR-RD)
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 Review Red
Phenotypes
  • Diamond-Blackfan anaemia
Red Red List (low evidence)
RPL15
2 reviews
1 green 1 red
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Red
  • BRIDGE consortium (NIHRBR-RD)
Phenotypes
  • ?Diamond-Blackfan anemia 12 615550
Red Red List (low evidence)
RPL18
1 review
1 red
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Literature
Phenotypes
  • Diamond-Blackfan anaemia
Red Red List (low evidence)
RPL19
2 reviews
1 green
Unknown
Sources
  • Expert Review Red
  • UKGTN
Phenotypes
  • Diamond-Blackfan anemia
Red Red List (low evidence)
RPL26
2 reviews
1 green 1 red
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Red
  • Expert list
Phenotypes
  • ?Diamond-Blackfan anemia 11 614900
Red Red List (low evidence)
RPL27
3 reviews
1 green
Unknown
Sources
  • UKGTN
  • Expert Review Red
Phenotypes
  • Diamond-Blackfan anemia
  • ?Diamond-Blackfan anemia 16, 617408
Red Red List (low evidence)
RPL31
1 review
Unknown
Sources
  • Expert Review Red
Red Red List (low evidence)
RPL35
1 review
1 red
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Literature
Phenotypes
  • Diamond-Blackfan anaemia
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
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
  • ?Diamond-Blackfan anemia 17, 617409
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
Red Red List (low evidence)
RUNX1
2 reviews
1 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Red
  • UKGTN
  • Expert list
Phenotypes
  • Inherited Bone Marrow Failure Syndromes - Thrombocytopenia
  • Familial MDS (Myelodysplastic syndromes)
  • Platelet Disorder, Familial, With Associated Myeloid Malignancy
Tags
  • somatic-germline
Red Red List (low evidence)
SETBP1
2 reviews
1 green 1 red
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Red
  • BRIDGE consortium (NIHRBR-RD)
Phenotypes
  • Myelodysplastic syndrome (MDS), Paediatric
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
  • Expert Review Red
  • BRIDGE consortium (NIHRBR-RD)
Phenotypes
  • Myelodysplastic syndrome (MDS), Paediatric
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
Red Red List (low evidence)
SMC1A
2 reviews
1 green
Unknown
Sources
  • Expert Review Red
  • BRIDGE consortium (NIHRBR-RD)
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
  • Expert Review Red
  • BRIDGE consortium (NIHRBR-RD)
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
  • UKGTN
  • Expert list
  • Illumina TruGenome Clinical Sequencing Services
  • Radboud University Medical Center, Nijmegen
  • Expert Review Red
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
  • Expert Review Red
  • BRIDGE consortium (NIHRBR-RD)
Phenotypes
  • Myelodysplastic syndrome (MDS), Paediatric
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
  • Radboud University Medical Center, Nijmegen
  • Expert Review Red
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
  • Expert Review Red
  • BRIDGE consortium (NIHRBR-RD)
Phenotypes
  • Myelodysplastic syndrome (MDS), Paediatric
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
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
Red Red List (low evidence)
TXNIP
1 review
Not set
Sources
  • Expert Review Red
  • UKGTN
Phenotypes
  • Thrombocytopenia Absent-Radius Syndrome
Red Red List (low evidence)
U2AF1
2 reviews
1 green
Unknown
Sources
  • Expert Review Red
  • BRIDGE consortium (NIHRBR-RD)
Phenotypes
  • Acute myeloid leukaemia (AML)
  • Myelodysplastic syndrome (MDS)
Tags
  • somatic
Red Red List (low evidence)
USB1
2 reviews
1 green
Not set
Sources
  • Expert Review Red
  • Expert list
Phenotypes
  • Poikiloderma with neutropenia 604173
  • Dyskeratosis congenita
Red Red List (low evidence)
USP18
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Other
  • Expert Review Red
Phenotypes
  • Pseudo-TORCH syndrome 2, 617397 (includes Thrombocytopenia)
Red Red List (low evidence)
WT1
2 reviews
1 green
Unknown
Sources
  • Expert Review Red
  • BRIDGE consortium (NIHRBR-RD)
Phenotypes
  • Acute myeloid leukaemia (AML)
Tags
  • somatic
Red Red List (low evidence)
ZRSR2
2 reviews
1 green
Unknown
Sources
  • Expert Review Red
  • BRIDGE consortium (NIHRBR-RD)
Phenotypes
  • Acute myeloid leukaemia (AML)
  • Chronic Myeloid Leukemia (CML)
Tags
  • somatic

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