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

217 Entities

217 reviewed, 95 green

List Entity Reviews Mode of inheritance Details
217 Entitiess
Green Green List (high evidence)
ABCB7
2 reviews
2 green
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • Expert Review Green
  • Illumina TruGenome Clinical Sequencing Services
  • Radboud University Medical Center, Nijmegen
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
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 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 Review Green
  • Expert list
  • Illumina TruGenome Clinical Sequencing Services
  • UKGTN
Phenotypes
  • Fanconi anemia, complementation group D1 605724
Tags
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
Tags
Green Green List (high evidence)
C15orf41
3 reviews
2 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Eligibility statement prior genetic testing
  • Expert Review Green
  • 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
Tags
Green Green List (high evidence)
CDAN1
2 reviews
2 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 224120
Tags
Green Green List (high evidence)
CSF3R
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert list
  • 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 Review Green
  • Expert list
  • Illumina TruGenome Clinical Sequencing Services
  • UKGTN
Phenotypes
  • Inherited Bone Marrow Failure Syndromes
  • Dyskeratosis congenita
  • Dyskeratosis Congenita, Recessive
  • Cerebroretinal microangiopathy with calcifications and cysts/CTC1 related Dyskeratosis Congenita
Tags
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 Review Green
  • Expert list
  • 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 Review Green
  • Expert list
  • 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 Review Green
  • Expert list
  • 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 Review Green
  • Expert list
  • 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 Review Green
  • Expert list
  • 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 Review Green
  • Expert list
  • 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 Review Green
  • Expert list
  • 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 Review Green
  • Expert list
  • 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 Review Green
  • Expert list
  • 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 Review Green
  • Expert list
  • 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 Review Green
  • Expert list
  • 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 Review Green
  • Expert list
  • 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 Review Green
  • Expert list
  • Illumina TruGenome Clinical Sequencing Services
  • Radboud University Medical Center, Nijmegen
  • UKGTN
Phenotypes
  • Inherited Bone Marrow Failure Syndromes - Neutropenia
  • Severe congenital neutropenic
  • Neutropenia, Severe Congenital, 4 Autosomal Dominant
  • Neutropenia, severe congenital 4, autosomal recessive, 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 Review Green
  • Expert list
  • Illumina TruGenome Clinical Sequencing Services
  • Radboud University Medical Center, Nijmegen
  • UKGTN
Phenotypes
  • Inherited Bone Marrow Failure Syndromes - GATA2 deficiencies
  • Familial MDS (Myelodysplastic syndromes)
  • Dendritic cell, monocyte, B lymphocyte, and natural killer lymphocyte deficiency, 614172
  • Emberger syndrome, 614038 (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
Tags
Green Green List (high evidence)
GFI1
3 reviews
1 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Expert list
  • Illumina TruGenome Clinical Sequencing Services
  • Radboud University Medical Center, Nijmegen
  • UKGTN
Phenotypes
  • Inherited Bone Marrow Failure Syndromes - Neutropenia
  • Severe congenital neutropenic
  • Neutropenia, Severe Congenital, 2 Autosomal Dominant
  • Neutropenia, Nonimmune Chronic Idiopathic, Of Adults
  • Neutropenia, severe congenital 2, autosomal dominant, 613107
Tags
Green Green List (high evidence)
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 Review Green
  • Expert list
  • Illumina TruGenome Clinical Sequencing Services
  • Radboud University Medical Center, Nijmegen
  • UKGTN
Phenotypes
  • Inherited Bone Marrow Failure Syndromes - Neutropenia
  • Severe congenital neutropenic
  • Neutropenia, Severe Congenital, 3 Autosomal Dominant
  • Neutropenia, severe congenital 3, autosomal recessive, 610738
Tags
Green Green List (high evidence)
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
  • 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
  • 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
  • Radboud University Medical Center, Nijmegen
  • UKGTN
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
  • 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
  • Enzyme Disorder
  • Hemolytic anemia due to hexokinase deficiency, 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
1 review
1 green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • Illumina TruGenome Clinical Sequencing Services
  • Radboud University Medical Center, Nijmegen
  • UKGTN
Phenotypes
  • Congenital Dyserythropoietic Anemia
  • Dyserythropoietic anemia, congenital, type IV, 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
  • Microcytic anemia
  • Congenital dyserythropoietic anemia
  • CDA
  • Majeed syndrome, 609628
Tags
Green Green List (high evidence)
MPL
3 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert list
  • Illumina TruGenome Clinical Sequencing Services
  • Radboud University Medical Center, Nijmegen
  • UKGTN
Phenotypes
  • Inherited Bone Marrow Failure Syndromes - Thrombocytopenia
  • Congenital amegkaryocytic thrombocytopenia
  • Congenital Amegakaryocytic Thrombocytopenia
  • Amegakaryocytic Thrombocytopenia, Congenital
  • 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
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)
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 Review Green
  • Expert list
  • 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
  • Stomatocytosis
  • Dehydrated hereditary stomatocytosis
  • Dehydrated hereditary stomatocytosis with or without pseudohyperkalemia and/or perinatal edema, 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
  • Enzyme Disorder
  • Pyruvate kinase deficiency, 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 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
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 Review Green
  • Expert list
  • Illumina TruGenome Clinical Sequencing Services
  • Radboud University Medical Center, Nijmegen
  • UKGTN
Phenotypes
  • Inherited Bone Marrow Failure Syndromes
  • Diamond Blackfan anemia
  • Diamond-Blackfan Anemia
  • Diamond-Blackfan anemia 7, 612562
  • Diamond_Blackfan Anemia 7
  • DIAMOND-BLACKFAN ANEMIA 7
Tags
Green Green List (high evidence)
RPL35A
2 reviews
1 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Expert list
  • Illumina TruGenome Clinical Sequencing Services
  • Radboud University Medical Center, Nijmegen
  • UKGTN
Phenotypes
  • Inherited Bone Marrow Failure Syndromes
  • Diamond Blackfan anemia
  • Diamond-Blackfan Anemia
  • Diamond-Blackfan anemia 5, 612528
  • Diamond_Blackfan Anemia 5
  • DIAMOND-BLACKFAN ANEMIA 5
Tags
Green Green List (high evidence)
RPL5
2 reviews
1 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Expert list
  • Illumina TruGenome Clinical Sequencing Services
  • Radboud University Medical Center, Nijmegen
  • UKGTN
Phenotypes
  • Inherited Bone Marrow Failure Syndromes
  • Diamond Blackfan anemia
  • Diamond-Blackfan Anemia
  • Diamond-Blackfan anemia 6, 612561
  • Diamond_Blackfan Anemia 6
  • DIAMOND-BLACKFAN ANEMIA 6
Tags
Green Green List (high evidence)
RPS10
2 reviews
1 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Expert list
  • Illumina TruGenome Clinical Sequencing Services
  • Radboud University Medical Center, Nijmegen
  • UKGTN
Phenotypes
  • Inherited Bone Marrow Failure Syndromes
  • Diamond Blackfan anemia
  • Diamond-Blackfan Anemia
  • Diamond-Blackfan anemia 9, 613308
  • Diamond_Blackfan Anemia 9
  • DIAMOND-BLACKFAN ANEMIA 9
Tags
Green Green List (high evidence)
RPS17
2 reviews
2 green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • Expert list
  • 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 Review Green
  • Expert list
  • Illumina TruGenome Clinical Sequencing Services
  • Radboud University Medical Center, Nijmegen
  • UKGTN
Phenotypes
  • Inherited Bone Marrow Failure Syndromes
  • Diamond Blackfan anemia
  • Diamond-Blackfan Anemia
  • Diamond-Blackfan anemia 1, 105650
  • Diamond_Blackfan Anemia
  • DIAMOND-BLACKFAN ANEMIA 1
Tags
Green Green List (high evidence)
RPS24
2 reviews
1 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Expert list
  • Illumina TruGenome Clinical Sequencing Services
  • Radboud University Medical Center, Nijmegen
  • UKGTN
Phenotypes
  • Inherited Bone Marrow Failure Syndromes
  • Diamond Blackfan anemia
  • Diamond-Blackfan Anemia
  • Diamond-blackfan anemia 3, 610629
  • Diamond_Blackfan Anemia 3
  • DIAMOND-BLACKFAN ANEMIA 3
Tags
  • deletions
Green Green List (high evidence)
RPS26
2 reviews
1 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Expert list
  • Illumina TruGenome Clinical Sequencing Services
  • Radboud University Medical Center, Nijmegen
  • UKGTN
Phenotypes
  • Inherited Bone Marrow Failure Syndromes
  • Diamond Blackfan anemia
  • Diamond-Blackfan Anemia
  • Diamond-Blackfan anemia 10, 613309
  • Diamond_Blackfan Anemia 10
  • Diamond-Blackfan anemia 10
Tags
Green Green List (high evidence)
RPS7
2 reviews
1 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Expert list
  • Illumina TruGenome Clinical Sequencing Services
  • Radboud University Medical Center, Nijmegen
  • UKGTN
Phenotypes
  • Inherited Bone Marrow Failure Syndromes
  • Diamond Blackfan anemia
  • Diamond-Blackfan Anemia
  • Diamond-Blackfan anemia 8, 612563
  • Diamond_Blackfan Anemia 8
  • DIAMOND-BLACKFAN ANEMIA 8
Tags
Green Green List (high evidence)
RTEL1
2 reviews
2 green
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert list
  • 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 Review Green
  • Expert list
  • 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
  • Congenital dyserythropoietic anemia type II
  • Congenital Dyserythropoietic Anemia
  • Anemia, dyserythropoieticcongenital, type II, 224100
  • ANEMIA, DYSERYTHROPOIETIC CONGENITAL, TYPE II
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 Review Green
  • Expert list
  • 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
2 reviews
1 green
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • Expert Review Green
  • UKGTN
Phenotypes
  • Barth syndrome 302060
Tags
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 Review Green
  • Expert list
  • Illumina TruGenome Clinical Sequencing Services
  • Radboud University Medical Center, Nijmegen
  • UKGTN
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
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 Review Green
  • Expert list
  • 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)
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
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 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
  • 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 Review Amber
  • Expert list
  • 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-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
  • Expert Review Amber
  • Expert list
  • Illumina TruGenome Clinical Sequencing Services
  • Radboud University Medical Center, Nijmegen
  • UKGTN
Phenotypes
  • Dyskeratosis congenita, autosomal recessive 2 613987
Tags
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 Review Amber
  • Expert list
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 Review Amber
  • Expert list
  • UKGTN
Phenotypes
  • Inherited Bone Marrow Failure Syndromes
  • Inherited Bone Marrow Failure Syndromes - Aplastic Anaemia
  • Telomere_Related Pulmonary Fibrosis And/Or Bone Marrow Failure_2
  • Dyskeratosis congenita
  • Dyskeratosis Congenita, Autosomal Dominant, 1
  • Telomere_Related Pulmonary Fibrosis And/Or Bone Marrow Failure_1
  • DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT, 1
Tags
  • locus-type-rna-misc
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
  • Inherited Bone Marrow Failure Syndromes
  • Inherited Bone Marrow Failure Syndromes - Aplastic Anaemia
  • Revesz Syndrome
  • Dyskeratosis congenita, autosomal dominant 3, 613990
  • Revesz syndrome, 268130
  • Revesz Syndrome
  • Dyskeratosis congenita
  • Dyskeratosis Congenita, Dominant
  • Dyskeratosis Congenita, Autosomal Dominant, 3
  • DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT, 3
Tags
Amber Amber List (moderate evidence)
WRAP53
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Expert list
  • Illumina TruGenome Clinical Sequencing Services
  • Radboud University Medical Center, Nijmegen
  • UKGTN
Phenotypes
  • Inherited Bone Marrow Failure Syndromes
  • Dyskeratosis congenita
  • Dyskeratosis congenita, autosomal recessive 3, 613988
  • Dyskeratosis Congenita, Recessive
  • Dyskeratosis Congenita, Autosomal Recessive, 3
Tags
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)
ADA2
2 reviews
1 red
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Red
  • Literature
Phenotypes
  • DBA
  • Diamond-Blackfan Anemia
Tags
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
  • 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, 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 Review Red
  • Expert list
  • 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
  • Globin Disorder
  • Fetal hemoglobin quantitative trait locus 1, 141749
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
  • Globin Disorder
  • Cyanosis, transient neonatal, 613977
  • Fetal hemoglobin quantitative trait locus 1,141749
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
  • 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
  • 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 Review Red
  • Expert list
  • 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)
NPM1
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)
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 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
  • 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
  • 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 Review Red
  • Expert list
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 Review Red
  • Expert list
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 Review Red
  • Expert list
  • 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
  • ?Diamond-Blackfan anemia 17, 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 Review Red
  • Expert list
  • UKGTN
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
  • 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 Review Red
  • Expert list
  • Illumina TruGenome Clinical Sequencing Services
  • Radboud University Medical Center, Nijmegen
  • UKGTN
Phenotypes
  • Inherited Bone Marrow Failure Syndromes - Aplastic Anaemia
  • Bone Marrow Failure, Familial
  • Bone marrow failure, familial, 614675
  • Familial Bone Marrow Failure
  • Familial MDS (Myelodysplastic syndromes)
  • Bone Marrow Failure, Familial
Tags
  • 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 Review Red
  • Expert list
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

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