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

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

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

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

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

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

7 reviewers

  • Ellen McDonagh (Genomics England Curator)

    Group: other
    Workplace: other

  • Richard Scott (North Thames GMC/UCL)

    Group: NHS Genomic Medicine Centre
    Workplace: NHS clinical service

  • emma baple (South West GMC)

    Group: NHS Genomic Medicine Centre
    Workplace: NHS clinical service

  • Rebecca Foulger (Genomics England curator)

    Group: Other
    Workplace: Other

  • Louise Daugherty (Genomics England Curator)

    Group: Other
    Workplace: Other

  • BRIDGE consortium (NIHRBR-RD)

    Group: Other
    Workplace: Other

  • Helen Brittain (Genomics England Curator)

    Group: Other
    Workplace: Other

202 Entities

163 reviewed, 41 green

List Entity Reviews Mode of inheritance Details
202 Entitiess
Green Green List (high evidence)
ALAS2
1 review
1 green
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Sources
  • Eligibility statement prior genetic testing
  • Illumina TruGenome Clinical Sequencing Services
  • UKGTN
Phenotypes
  • Anemia, sideroblastic, X-linked, 300751Protoporphyria, erythropoietic, X-linked, 300752
  • Sideroblastic Anemia and Ataxia
  • Sideroblastic anaemia
  • ANEMIA, HEREDITARYSIDEROBLASTIC X-linked
Tags
Green Green List (high evidence)
BRCA2
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Illumina TruGenome Clinical Sequencing Services
  • UKGTN
Phenotypes
  • Fanconi Anemia
  • {Breast-ovarian cancer, familial, 2}, 612555Fanconi anemia, complementation group D1, 605724Prostate cancer, 176807{Breast cancer, male, susceptibility to}, 114480Wilms tumor, 194070{Medulloblastoma}, 155255{Glioblastoma 3}, 613029{Pre-B-cell acute lymphoblastic leukemia}Pancreatic cancer, 613347
  • Fanconi anemia
  • {Breast-ovarian cancer, familial, 2}, 612555
  • Fanconi anemia, complementation group D1, 605724
  • Prostate cancer, 176807
  • {Breast cancer, male, susceptibility to}, 114480
  • Wilms tumor, 194070
  • {Medulloblastoma}, 155255
  • {Glioblastoma 3}, 613029
  • Pancreatic cancer, 613347
  • Fanconi Anaemia
Tags
Green Green List (high evidence)
BRIP1
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Illumina TruGenome Clinical Sequencing Services
  • UKGTN
Phenotypes
  • Fanconi Anemia
  • ?Breast cancer, early-onset, 114480Fanconi anemia, complementation group J, 609054
  • Fanconi anemia
  • ?Breast cancer, early-onset, 114480
  • Fanconi anemia, complementation group J, 609054
  • Fanconi Anaemia
Tags
Green Green List (high evidence)
CDAN1
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Eligibility statement prior genetic testing
  • Illumina TruGenome Clinical Sequencing Services
  • UKGTN
Phenotypes
  • Congenital Dyserythropoietic Anemia
  • Anemia,congenitaldyserythropoietic,typeI,224120
  • ANEMIA, CONGENITAL DYSERYTHROPOIETIC, TYPE I
Tags
Green Green List (high evidence)
DKC1
1 review
1 green
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Sources
  • Eligibility statement prior genetic testing
  • Emory Genetics Laboratory
  • Expert list
  • Radboud University Medical Center, Nijmegen
  • UKGTN
Phenotypes
  • Dyskeratosis congenita
  • Dyskeratosis congenita, X-linked, 305000
  • Dyskeratosis Congenita, X-linked
  • DYSKERATOSIS CONGENITA, X-LINKED
  • Inherited Bone Marrow Failure Syndromes
Tags
Green Green List (high evidence)
FANCA
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Illumina TruGenome Clinical Sequencing Services
  • UKGTN
Phenotypes
  • Fanconi Anemia
  • Fanconi anemia, complementation group A, 227650
  • Fanconi anemia
  • Fanconi Anaemia
Tags
Green Green List (high evidence)
FANCB
1 review
1 green
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Sources
  • Emory Genetics Laboratory
  • Expert list
  • Illumina TruGenome Clinical Sequencing Services
  • Radboud University Medical Center, Nijmegen
  • UKGTN
Phenotypes
  • Fanconi anemia
  • Fanconi anemia, complementation group B, 300514
  • Fanconi Anemia, X-Linked
  • Fanconi Anemia Type B
  • Fanconi Anaemia
Tags
Green Green List (high evidence)
FANCC
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Illumina TruGenome Clinical Sequencing Services
  • UKGTN
Phenotypes
  • Fanconi Anemia
  • Fanconi anemia, complementation group C, 227645
  • Fanconi anemia
  • Fanconi Anaemia
Tags
Green Green List (high evidence)
FANCD2
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Illumina TruGenome Clinical Sequencing Services
  • UKGTN
Phenotypes
  • Fanconi Anemia
  • Fanconi anemia, complementation group D2, 227646
  • Fanconi anemia
  • Fanconi Anaemia
Tags
Green Green List (high evidence)
FANCE
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Illumina TruGenome Clinical Sequencing Services
  • UKGTN
Phenotypes
  • Fanconi Anemia
  • Fanconi anemia, complementation group E, 600901
  • Fanconi anemia
  • Fanconi Anaemia
Tags
Green Green List (high evidence)
FANCF
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Illumina TruGenome Clinical Sequencing Services
  • UKGTN
Phenotypes
  • Fanconi Anemia
  • Fanconi anemia, complementation group F, 603467
  • Fanconi anemia
  • Fanconi Anaemia
Tags
Green Green List (high evidence)
FANCG
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Illumina TruGenome Clinical Sequencing Services
  • UKGTN
Phenotypes
  • Fanconi Anemia
  • Fanconi anemia, complementation group G, 614082
  • Fanconi anemia
  • Fanconi Anaemia
Tags
Green Green List (high evidence)
FANCI
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Illumina TruGenome Clinical Sequencing Services
  • UKGTN
Phenotypes
  • Fanconi Anemia
  • Fanconi anemia, complementation group I, 609053
  • Fanconi anemia
  • Fanconi Anaemia
Tags
Green Green List (high evidence)
FANCL
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Illumina TruGenome Clinical Sequencing Services
  • UKGTN
Phenotypes
  • Fanconi Anemia
  • Fanconi anemia, complementation group L, 614083
  • Fanconi anemia
  • Fanconi Anaemia
Tags
Green Green List (high evidence)
G6PC3
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Illumina TruGenome Clinical Sequencing Services
  • Radboud University Medical Center, Nijmegen
  • UKGTN
Phenotypes
  • Inherited Bone Marrow Failure Syndromes - Neutropenia
  • Severe congenital neutropenic
  • Neutropenia, Severe Congenital, 4 Autosomal Dominant
  • Neutropenia, severe congenital 4, autosomal recessive, 612541Dursun syndrome, 612541
  • Severe Congenital Neutropenia
Tags
Green Green List (high evidence)
G6PD
1 review
1 green
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Sources
  • Emory Genetics Laboratory
  • Illumina TruGenome Clinical Sequencing Services
  • Radboud University Medical Center, Nijmegen
  • UKGTN
Phenotypes
  • Hemolytic anemia due to G6PD deficiencyFavism, 134700{Resistance to malaria due to G6PD deficiency}, 611162
  • Glucose-6-Phosphate Dehydrogenase Deficiency
  • Hemolytic anemia due to G6PD deficiency
Tags
Green Green List (high evidence)
GATA2
1 review
1 green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert list
  • Illumina TruGenome Clinical Sequencing Services
  • Radboud University Medical Center, Nijmegen
  • UKGTN
Phenotypes
  • Inherited Bone Marrow Failure Syndromes - GATA2 deficiencies
  • Familial MDS (Myelodysplastic syndromes)
  • Dendritic cell, monocyte, B lymphocyte, and natural killer lymphocyte deficiency, 614172
  • Emberger syndrome, 614038
  • {Myelodysplastic syndrome, susceptibility to}, 614286
  • {Leukemia, acute myeloid, susceptibility to}, 601626
  • Primary Lymphedema with Myelodysplasia
  • Immunodeficiency 21
  • Leukemia, Acute Myeloid
  • Lymphedema, Primary, With Myelodysplasia
  • Myelodysplastic Syndrome
  • Dendritic Cell, Monocyte, B Lymphocyte, And Natural Killer Lymphocyte Deficiency
Tags
Green Green List (high evidence)
GFI1
1 review
1 green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert list
  • Illumina TruGenome Clinical Sequencing Services
  • Radboud University Medical Center, Nijmegen
  • UKGTN
Phenotypes
  • Inherited Bone Marrow Failure Syndromes - Neutropenia
  • Severe congenital neutropenic
  • Neutropenia, Severe Congenital, 2 Autosomal Dominant
  • Neutropenia, Nonimmune Chronic Idiopathic, Of Adults
  • Neutropenia, severe congenital 2, autosomal dominant, 613107
Tags
Green Green List (high evidence)
HAX1
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Illumina TruGenome Clinical Sequencing Services
  • Radboud University Medical Center, Nijmegen
  • UKGTN
Phenotypes
  • Inherited Bone Marrow Failure Syndromes - Neutropenia
  • Severe congenital neutropenic
  • Neutropenia, Severe Congenital, 3 Autosomal Dominant
  • Neutropenia, severe congenital 3, autosomal recessive, 610738
Tags
Green Green List (high evidence)
KLF1
1 review
1 green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Illumina TruGenome Clinical Sequencing Services
  • Radboud University Medical Center, Nijmegen
  • UKGTN
Phenotypes
  • Congenital Dyserythropoietic Anemia
  • Bloodgroup Lutheraninhibitor,111150[Hereditarypersistenceoffetalhemoglobin],613566Anemia,dyserythropoieticcongenital,typeIV,613673
  • Anemia, dyserythropoietic congenital, type IV
Tags
Green Green List (high evidence)
MPL
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Illumina TruGenome Clinical Sequencing Services
  • Radboud University Medical Center, Nijmegen
  • UKGTN
Phenotypes
  • Inherited Bone Marrow Failure Syndromes - Thrombocytopenia
  • Congenital amegkaryocytic thrombocytopenia
  • Congenital Amegakaryocytic Thrombocytopenia
  • Amegakaryocytic Thrombocytopenia, Congenital
Tags
Green Green List (high evidence)
NHP2
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Illumina TruGenome Clinical Sequencing Services
  • Radboud University Medical Center, Nijmegen
  • UKGTN
Phenotypes
  • Inherited Bone Marrow Failure Syndromes
  • Dyskeratosis congenita
  • Dyskeratosis congenita, autosomal recessive 2, 613987
  • Dyskeratosis Congenita, Recessive
  • Dyskeratosis Congenita, Autosomal Recessive, 2
  • DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE, 2
Tags
Green Green List (high evidence)
NOP10
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Illumina TruGenome Clinical Sequencing Services
  • Radboud University Medical Center, Nijmegen
  • UKGTN
Phenotypes
  • Inherited Bone Marrow Failure Syndromes
  • Dyskeratosis congenita
  • Dyskeratosis congenita, autosomal recessive 1, 224230
  • Dyskeratosis Congenita, Recessive
  • Dyskeratosis Congenita, Autosomal Recessive, 1
  • DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE, 1
Tags
Green Green List (high evidence)
PALB2
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Illumina TruGenome Clinical Sequencing Services
  • UKGTN
Phenotypes
  • Fanconi Anemia
  • Fanconi anemia, complementation group N, 610832{Breast cancer, susceptibility to}, 114480{Pancreatic cancer, susceptibility to, 3}, 613348
  • Fanconi anemia
  • Fanconi anemia, complementation group N, 610832
  • {Breast cancer, susceptibility to}, 114480
  • {Pancreatic cancer, susceptibility to, 3}, 613348
  • Fanconi Anaemia
Tags
Green Green List (high evidence)
RPL11
1 review
1 green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert list
  • Illumina TruGenome Clinical Sequencing Services
  • Radboud University Medical Center, Nijmegen
  • UKGTN
Phenotypes
  • Inherited Bone Marrow Failure Syndromes
  • Diamond Blackfan anemia
  • Diamond-Blackfan Anemia
  • Diamond-Blackfan anemia 7, 612562
  • Diamond_Blackfan Anemia 7
  • DIAMOND-BLACKFAN ANEMIA 7
Tags
Green Green List (high evidence)
RPL35A
1 review
1 green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert list
  • Illumina TruGenome Clinical Sequencing Services
  • Radboud University Medical Center, Nijmegen
  • UKGTN
Phenotypes
  • Inherited Bone Marrow Failure Syndromes
  • Diamond Blackfan anemia
  • Diamond-Blackfan Anemia
  • Diamond-Blackfan anemia 5, 612528
  • Diamond_Blackfan Anemia 5
  • DIAMOND-BLACKFAN ANEMIA 5
Tags
Green Green List (high evidence)
RPL5
1 review
1 green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert list
  • Illumina TruGenome Clinical Sequencing Services
  • Radboud University Medical Center, Nijmegen
  • UKGTN
Phenotypes
  • Inherited Bone Marrow Failure Syndromes
  • Diamond Blackfan anemia
  • Diamond-Blackfan Anemia
  • Diamond-Blackfan anemia 6, 612561
  • Diamond_Blackfan Anemia 6
  • DIAMOND-BLACKFAN ANEMIA 6
Tags
Green Green List (high evidence)
RPS10
1 review
1 green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert list
  • Illumina TruGenome Clinical Sequencing Services
  • Radboud University Medical Center, Nijmegen
  • UKGTN
Phenotypes
  • Inherited Bone Marrow Failure Syndromes
  • Diamond Blackfan anemia
  • Diamond-Blackfan Anemia
  • Diamond-Blackfan anemia 9, 613308
  • Diamond_Blackfan Anemia 9
  • DIAMOND-BLACKFAN ANEMIA 9
Tags
Green Green List (high evidence)
RPS19
1 review
1 green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert list
  • Illumina TruGenome Clinical Sequencing Services
  • Radboud University Medical Center, Nijmegen
  • UKGTN
Phenotypes
  • Inherited Bone Marrow Failure Syndromes
  • Diamond Blackfan anemia
  • Diamond-Blackfan Anemia
  • Diamond-Blackfan anemia 1, 105650
  • Diamond_Blackfan Anemia
  • DIAMOND-BLACKFAN ANEMIA 1
Tags
Green Green List (high evidence)
RPS24
1 review
1 green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert list
  • Illumina TruGenome Clinical Sequencing Services
  • Radboud University Medical Center, Nijmegen
  • UKGTN
Phenotypes
  • Inherited Bone Marrow Failure Syndromes
  • Diamond Blackfan anemia
  • Diamond-Blackfan Anemia
  • Diamond-blackfan anemia 3, 610629
  • Diamond_Blackfan Anemia 3
  • DIAMOND-BLACKFAN ANEMIA 3
Tags
Green Green List (high evidence)
RPS26
1 review
1 green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert list
  • Illumina TruGenome Clinical Sequencing Services
  • Radboud University Medical Center, Nijmegen
  • UKGTN
Phenotypes
  • Inherited Bone Marrow Failure Syndromes
  • Diamond Blackfan anemia
  • Diamond-Blackfan Anemia
  • Diamond-Blackfan anemia 10, 613309
  • Diamond_Blackfan Anemia 10
  • Diamond-Blackfan anemia 10
Tags
Green Green List (high evidence)
RPS7
1 review
1 green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert list
  • Illumina TruGenome Clinical Sequencing Services
  • Radboud University Medical Center, Nijmegen
  • UKGTN
Phenotypes
  • Inherited Bone Marrow Failure Syndromes
  • Diamond Blackfan anemia
  • Diamond-Blackfan Anemia
  • Diamond-Blackfan anemia 8, 612563
  • Diamond_Blackfan Anemia 8
  • DIAMOND-BLACKFAN ANEMIA 8
Tags
Green Green List (high evidence)
SEC23B
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Emory Genetics Laboratory
  • Illumina TruGenome Clinical Sequencing Services
  • Radboud University Medical Center, Nijmegen
  • UKGTN
Phenotypes
  • Congenital dyserythropoietic anemia type II
  • Congenital Dyserythropoietic Anemia
  • Anemia,dyserythropoieticcongenital,typeII,224100
  • ANEMIA, DYSERYTHROPOIETIC CONGENITAL, TYPE II
Tags
Green Green List (high evidence)
SLC25A38
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Eligibility statement prior genetic testing
  • Radboud University Medical Center, Nijmegen
  • UKGTN
Phenotypes
  • Anemia, sideroblastic, pyridoxine-refractory, autosomal recessive, 205950
  • Hereditary Sideroblastic Anemia
  • Sideroblastic anaemia
  • ANEMIA, SIDEROBLASTIC, PYRIDOXINE-REFRACTORY, AUTOSOMAL RECESSIVE
Tags
Green Green List (high evidence)
SLX4
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Illumina TruGenome Clinical Sequencing Services
  • UKGTN
Phenotypes
  • Fanconi Anemia
  • Fanconi anemia, complementation group P, 613951
  • Fanconi anemia
  • Fanconi Anaemia
Tags
Green Green List (high evidence)
SRP72
1 review
1 green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert list
  • Illumina TruGenome Clinical Sequencing Services
  • Radboud University Medical Center, Nijmegen
  • UKGTN
Phenotypes
  • Inherited Bone Marrow Failure Syndromes - Aplastic Anaemia
  • Bone Marrow Failure, Familial
  • Bone marrow failure, familial, 614675
  • Familial Bone Marrow Failure
  • Familial MDS (Myelodysplastic syndromes)
  • Bone Marrow Failure, Familial
Tags
Green Green List (high evidence)
TCN2
3 reviews
2 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Transcobalamin II deficiency
  • can have a presentation similar to severe combined immunodeficiency
  • pancytopenia
  • neutropenic colitis
  • Agammaglobulinemia
  • megaloblastic bone marrow
  • thrombocytopenia
  • neutropenia
  • failure to thrive
  • hypotonia, myoclonic like movements, pallor, purpura, anaemia, thrombocytopenia, megaloblastosis, aplastic bone marrow.
Tags
Green Green List (high evidence)
TERT
2 reviews
1 green
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Eligibility statement prior genetic testing
  • Expert list
  • Illumina TruGenome Clinical Sequencing Services
  • Radboud University Medical Center, Nijmegen
  • UKGTN
Phenotypes
  • Aplastic Anemia
  • {Bone marrow failure, telomere-related, 1}, 614742
  • {Dyskeratosis congenita, autosomal recessive 4}, 613989
  • {Dyskeratosis congenita, autosomal dominant 2}, 613989
  • {Coronary artery disease}
  • {Pulmonary fibrosis, telomere-related, 1}, 614742
  • {Leukemia, acute myeloid}, 601626
  • {Melanoma, cutaneous malignant, 9}, 615134
  • Inherited Bone Marrow Failure Syndromes
  • Inherited Bone Marrow Failure Syndromes - Aplastic Anaemia
  • Telomere Related Pulmonary Fibrosis And/Or Bone Marrow Failure 1
  • Dyskeratosis congenita
  • {Bone marrow failure, telomere-related, 1}, 614742
  • {Dyskeratosis congenita, autosomal recessive 4}, 613989
  • {Dyskeratosis congenita, autosomal dominant 2}, 613989
  • {Coronary artery disease
  • {Pulmonary fibrosis, telomere-related, 1}, 614742
  • {Melanoma, cutaneous malignant, 9}, 615134
  • Dyskeratosis Congenita, Recessive
  • Dyskeratosis Congenita, Autosomal Dominant, 2
  • Telomere-Related Pulmonary Fibrosis And/Or Bone Marrow Failure-2
  • Bone marrow failure, telomere-related, 1
Tags
Green Green List (high evidence)
TINF2
1 review
1 green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Illumina TruGenome Clinical Sequencing Services
  • Radboud University Medical Center, Nijmegen
  • UKGTN
Phenotypes
  • Inherited Bone Marrow Failure Syndromes
  • Inherited Bone Marrow Failure Syndromes - Aplastic Anaemia
  • Revesz Syndrome
  • Dyskeratosis congenita, autosomal dominant 3, 613990
  • Revesz syndrome, 268130
  • Revesz Syndrome
  • Dyskeratosis congenita
  • Dyskeratosis Congenita, Dominant
  • Dyskeratosis Congenita, Autosomal Dominant, 3
  • DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT, 3
Tags
Green Green List (high evidence)
TMPRSS6
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Illumina TruGenome Clinical Sequencing Services
  • Radboud University Medical Center, Nijmegen
  • UKGTN
Phenotypes
  • Iron-Refractory Iron Deficiency Anemia
  • Iron refractoryirondeficiencyanemia,206200
Tags
Green Green List (high evidence)
WRAP53
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Illumina TruGenome Clinical Sequencing Services
  • Radboud University Medical Center, Nijmegen
  • UKGTN
Phenotypes
  • Inherited Bone Marrow Failure Syndromes
  • Dyskeratosis congenita
  • Dyskeratosis congenita, autosomal recessive 3, 613988
  • Dyskeratosis Congenita, Recessive
  • Dyskeratosis Congenita, Autosomal Recessive, 3
Tags
Amber Amber List (moderate evidence)
ABCB7
2 reviews
2 green
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Sources
  • Illumina TruGenome Clinical Sequencing Services
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Sideroblastic Anemia and Ataxia
  • Anemia, sideroblastic, with ataxia, 301310
Tags
Amber Amber List (moderate evidence)
ANKRD26
0 reviews
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert list
  • Illumina TruGenome Clinical Sequencing Services
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Thrombocytopenia 2, 188000
  • Congenital amegkaryocytic thrombocytopenia
Tags
Amber Amber List (moderate evidence)
BAAT
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Illumina TruGenome Clinical Sequencing Services
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Hypercholanemia, familial, 607748
  • Hypercholanemia
Tags
Amber Amber List (moderate evidence)
COX4I2
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Illumina TruGenome Clinical Sequencing Services
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Exocrine Pancreatic Insufficiency, Dyserythropoietic Anemia, andCalvarial Hyperostosis
  • Exocrine pancreatic insufficiency, dyserythropoietic anemia, and calvarial hyperostosis, 612714
Tags
Amber Amber List (moderate evidence)
CTC1
2 reviews
2 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Illumina TruGenome Clinical Sequencing Services
  • UKGTN
Phenotypes
  • Inherited Bone Marrow Failure Syndromes
  • Dyskeratosis congenita
  • Dyskeratosis Congenita, Recessive
  • Cerebroretinal microangiopathy with calcifications and cysts/CTC1 related Dyskeratosis Congenita
Tags
Amber Amber List (moderate evidence)
CUBN
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Illumina TruGenome Clinical Sequencing Services
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Megaloblastic anemia-1, Finnish type, 261100
  • Megaloblastic Anemia
Tags
Amber Amber List (moderate evidence)
CYCS
0 reviews
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Illumina TruGenome Clinical Sequencing Services
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Thrombocytopenia 4, 612004
Tags
Amber Amber List (moderate evidence)
ELANE
2 reviews
2 green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert list
  • Radboud University Medical Center, Nijmegen
  • UKGTN
Phenotypes
  • Cyclic Neutropenia (AD)
  • Neutropenia, Severe Congital 1, Autosomal Dominant
  • Severe congenital neutropenic
  • Neutropenia, Severe Congenital, 1 Autosomal Dominant
  • Cyclic Neutropenia
  • Neutropenia, cyclic, 162800Neutropenia, severe congenital 1, autosomal dominant, 202700
Tags
Amber Amber List (moderate evidence)
GATA1
2 reviews
2 green
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Sources
  • Eligibility statement prior genetic testing
  • Radboud University Medical Center, Nijmegen
  • UKGTN
Phenotypes
  • Thrombocytopenia, X-linked, with or without dyserythropoietic anemia, 300367
  • Congenital Dyserythropoietic Anemia
  • Familial MDS (Myelodysplastic syndromes)
  • Anemia, X-linked, with/without neutropenia and/or platelet abnormalities
  • Inherited Bone Marrow Failure Syndromes
  • Thrombocytopenia,X linked,withorwithoutdyserythropoieticanemia,300367Leukemia,megakaryoblastic,withorwithoutDownsyndrome,somatic,190685Thrombocytopeniawithbeta thalassemia,X linked,314050Anemia,X linked,with/withoutneutropeniaand/orplateletabnormalities,300835
Tags
Amber Amber List (moderate evidence)
MASTL
0 reviews
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Illumina TruGenome Clinical Sequencing Services
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Thrombocytopenia
Tags
Amber Amber List (moderate evidence)
PUS1
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Illumina TruGenome Clinical Sequencing Services
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Myopathy, Lactic Acidosis, and Sideroblastic Anemia
  • Mitochondrialmyopathyandsideroblasticanemia1,600462
Tags
Amber Amber List (moderate evidence)
RAD51C
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Expert list
  • Illumina TruGenome Clinical Sequencing Services
  • UKGTN
Phenotypes
  • Fanconi Anemia
  • Fanconi anemia, complementation group O, 613390{Breast-ovarian cancer, familial, susceptibility to, 3}, 613399
  • Fanconi anemia
  • Fanconi anemia, complementation group O, 613390
  • {Breast-ovarian cancer, familial, susceptibility to, 3}, 613399
  • Fanconi Anaemia
Tags
  • watchlist
Amber Amber List (moderate evidence)
RBM8A
1 review
Not set
Sources
  • Radboud University Medical Center, Nijmegen
  • UKGTN
Phenotypes
  • Thrombocytopenia Absent-Radius Syndrome
Tags
Amber Amber List (moderate evidence)
RPS17
2 reviews
2 green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert list
  • Radboud University Medical Center, Nijmegen
  • UKGTN
Phenotypes
  • Inherited Bone Marrow Failure Syndromes
  • Diamond Blackfan anemia
  • Diamond-Blackfan anemia 4, 612527
  • Diamond_Blackfan Anemia 4
  • DIAMOND-BLACKFAN ANEMIA 4
Tags
Amber Amber List (moderate evidence)
RTEL1
2 reviews
2 green
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert list
  • Radboud University Medical Center, Nijmegen
  • UKGTN
Phenotypes
  • Dyskeratosis Congenita, Autosomal Dominant, 4
  • Dyskeratosis Congenita, Autosomal Recessive, 5
  • Dyskeratosis congenita
  • Dyskeratosis congenita, autosomal recessive 5, 615190
  • Dyskeratosis congenita, autosomal dominant 4, 615190
  • Dyskeratosis Congenita, Autosomal Recessive, 5
Tags
Amber Amber List (moderate evidence)
SBDS
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Eligibility statement prior genetic testing
  • Expert list
  • Radboud University Medical Center, Nijmegen
  • UKGTN
Phenotypes
  • Inherited Bone Marrow Failure Syndromes - Aplastic Anaemia
  • Shwachman_Diamond Syndrome
  • Shwachman-Bodian-Diamond syndrome
  • Shwachman Diamond syndrome (SDS)
  • Shwachman-Bodian-Diamond syndrome, 260400
  • Shwachman-Diamond Syndrome
  • SHWACHMAN-DIAMOND SYNDROME
Tags
Amber Amber List (moderate evidence)
SLC11A2
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Illumina TruGenome Clinical Sequencing Services
  • UKGTN
Phenotypes
  • Hypochromic Microcytic Anemia with Iron Overload
Tags
Amber Amber List (moderate evidence)
SLC19A2
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Illumina TruGenome Clinical Sequencing Services
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Thiamine-Responsive Megaloblastic Anemia
  • Thiamine responsivemegaloblasticanemiasyndrome,249270
Tags
Amber Amber List (moderate evidence)
WAS
1 review
1 green
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Sources
  • Expert list
  • Radboud University Medical Center, Nijmegen
  • UKGTN
Phenotypes
  • Wiskott-Aldrich syndrome, 301000
  • Thrombocytopenia, X-linked, 313900Neutropenia, severe congenital, X-linked, 300299
  • Thrombocytopenia, X-linked, intermittent, 313900
  • Wiskot Aldrich syndrome
  • Wiskott-Aldrich syndrome, 301000
  • Thrombocytopenia, X-linked, 313900
  • Neutropenia, severe congenital, X-linked, 300299
  • Thrombocytopenia, X-linked, intermittent, 313900
  • Neutropenia, Severe Congenital, X-Linked
  • Thrombocytopenia 1
  • Wiskott-Aldrich Syndrome
  • Inherited Bone Marrow Failure Syndromes - Neutropenia
  • Inherited Bone Marrow Failure Syndromes - Thrombocytopenia
Tags
Amber Amber List (moderate evidence)
YARS2
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Illumina TruGenome Clinical Sequencing Services
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Hereditary Sideroblastic Anemia with Myopathy and Lactic Acidosis
  • Myopathy,lacticacidosis,andsideroblasticanemia2,613561
Tags
Red Red List (low evidence)
ABL1
1 review
1 green
Unknown
Sources
  • BRIDGE consortium (NIHRBR-RD)
Phenotypes
  • Chronic Myeloid Leukemia (CML)
Tags
Red Red List (low evidence)
ACSL6
0 reviews
Not set
Sources
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Myelodysplastic syndrome
  • Myelogenous leukemia, acute
Tags
Red Red List (low evidence)
ADAMTS13
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Illumina TruGenome Clinical Sequencing Services
Phenotypes
  • Familial Thrombotic Thrombocytopenia Purpura
Tags
Red Red List (low evidence)
AK1
0 reviews
Not set
Sources
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Hemolytic anemia due to adenylate kinase deficiency, 612631
Tags
Red Red List (low evidence)
ALDOA
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • BRIDGE consortium (NIHRBR-RD)
Phenotypes
  • Enzyme Disorder
  • Glycogen storage disease
Tags
Red Red List (low evidence)
AMN
0 reviews
Not set
Sources
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Megaloblastic anemia-1, Norwegian type, 261100
Tags
Red Red List (low evidence)
ANK1
1 review
1 green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • BRIDGE consortium (NIHRBR-RD)
Phenotypes
  • RBC membrane abnormality
  • Spherocytosis
Tags
Red Red List (low evidence)
ANKRD34A
1 review
Not set
Sources
  • UKGTN
Phenotypes
  • Thrombocytopenia Absent-Radius Syndrome
Tags
Red Red List (low evidence)
ANKRD35
1 review
Not set
Sources
  • UKGTN
Phenotypes
  • Thrombocytopenia Absent-Radius Syndrome
Tags
Red Red List (low evidence)
ARHGAP26
1 review
1 green
Unknown
Sources
  • BRIDGE consortium (NIHRBR-RD)
Phenotypes
  • Myelodysplastic syndrome (MDS), Paediatric
Tags
Red Red List (low evidence)
ASXL1
1 review
1 green
Not set
Sources
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Bohring-Opitz syndrome, 605039
  • Myelodysplastic syndrome, somatic, 614286
Tags
Red Red List (low evidence)
ATRX
1 review
1 green
Unknown
Sources
  • BRIDGE consortium (NIHRBR-RD)
Phenotypes
  • Myelodysplastic syndrome (MDS), Adult
Tags
Red Red List (low evidence)
BCOR
1 review
1 green
Unknown
Sources
  • BRIDGE consortium (NIHRBR-RD)
Phenotypes
  • Acute myeloid leukaemia (AML)
Tags
Red Red List (low evidence)
BCORL1
1 review
1 green
Unknown
Sources
  • BRIDGE consortium (NIHRBR-RD)
Phenotypes
  • Acute myeloid leukaemia (AML)
Tags
Red Red List (low evidence)
BRAF
1 review
1 green
Unknown
Sources
  • BRIDGE consortium (NIHRBR-RD)
Phenotypes
  • Rasopathies
  • Leukaemia
  • Lymphoma
  • Hairy cell leukemia (HCL)
Tags
Red Red List (low evidence)
BRCA1
1 review
1 green
Unknown
Sources
  • BRIDGE consortium (NIHRBR-RD)
Phenotypes
  • Fanconi anemia
Tags
Red Red List (low evidence)
C15orf41
2 reviews
2 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Eligibility statement prior genetic testing
  • UKGTN
Phenotypes
  • Congenital Dyserythropoietic Anemia
  • N/A
Tags
Red Red List (low evidence)
CALR
1 review
1 green
Unknown
Sources
  • BRIDGE consortium (NIHRBR-RD)
Phenotypes
  • Myelofibrosis
  • Essential thrombocythemia (ET)
Tags
Red Red List (low evidence)
CBL
1 review
1 green
Unknown
Sources
  • BRIDGE consortium (NIHRBR-RD)
Phenotypes
  • Myelodysplastic syndrome (MDS), Paediatric
Tags
Red Red List (low evidence)
CBLB
1 review
1 green
Unknown
Sources
  • BRIDGE consortium (NIHRBR-RD)
Phenotypes
  • Acute myeloid leukaemia (AML)
Tags
Red Red List (low evidence)
CBLC
1 review
1 green
Unknown
Sources
  • BRIDGE consortium (NIHRBR-RD)
Phenotypes
  • Chronic Myeloid Leukemia (CML)
Tags
Red Red List (low evidence)
CD36
0 reviews
Not set
Sources
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • [Macrothrombocytopenia] (1)
Tags
Red Red List (low evidence)
CD59
0 reviews
Not set
Sources
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Hemolytic anemia, CD59-mediated, with or without immune-mediated polyneuropathy, 612300
Tags
Red Red List (low evidence)
CDKN2A
1 review
1 green
Unknown
Sources
  • BRIDGE consortium (NIHRBR-RD)
Phenotypes
  • Acute lymphoblastic leukemia (ALL)
Tags
Red Red List (low evidence)
CEBPA
2 reviews
1 green
Not set
Sources
  • Expert list
Phenotypes
  • Familial MDS (Myelodysplastic syndromes)
Tags
Red Red List (low evidence)
CSF3R
1 review
1 green
Not set
Sources
  • Expert list
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Severe congenital neutropenic
  • Neutrophilia, hereditary, 162830
Tags
Red Red List (low evidence)
CUX1
1 review
1 green
Unknown
Sources
  • BRIDGE consortium (NIHRBR-RD)
Phenotypes
  • Acute myeloid leukaemia (AML)
Tags
Red Red List (low evidence)
CXCR4
1 review
1 green
Not set
Sources
  • Expert list
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • WHIM sydrome
  • WHIM syndrome, 193670
  • Myelokathexis, isolated
Tags
Red Red List (low evidence)
DHFR
0 reviews
Not set
Sources
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Megaloblastic anemia due to dihydrofolate reductase deficiency, 613839
Tags
Red Red List (low evidence)
DNMT3A
1 review
1 green
Unknown
Sources
  • BRIDGE consortium (NIHRBR-RD)
Phenotypes
  • Myelodysplastic syndrome (MDS), Paediatric
Tags
Red Red List (low evidence)
ENO1
1 review
1 green
Unknown
Sources
  • BRIDGE consortium (NIHRBR-RD)
Phenotypes
  • Enzyme Disorder
  • Enolase deficiency
Tags
Red Red List (low evidence)
EPB41
1 review
1 green
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • BRIDGE consortium (NIHRBR-RD)
Phenotypes
  • RBC membrane abnormality
  • Elliptocytosis
Tags
Red Red List (low evidence)
EPB42
1 review
1 green
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • BRIDGE consortium (NIHRBR-RD)
Phenotypes
  • RBC membrane abnormality
  • Elliptocytosis
Tags
Red Red List (low evidence)
EPHX1
0 reviews
Not set
Sources
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • ?Fetal hydantoin syndromeDiphenylhydantoin toxicityHypercholanemia, familial, 607748{Preeclampsia, susceptibility to}, 189800
Tags
Red Red List (low evidence)
ERCC4
2 reviews
1 green
Not set
Sources
  • Literature
  • UKGTN
Phenotypes
  • Fanconi anemia, complementation group Q, 615272Xeroderma pigmentosum, type F/Cockayne syndrome, 278760
  • Xeroderma pigmentosum, group F, 278760
  • XFE progeroid syndrome, 610965
  • Fanconi anemia, complementation group Q, 615272
  • Xeroderma pigmentosum, type F/Cockayne syndrome, 278760
  • Fanconi Anaemia
Tags
Red Red List (low evidence)
ERCC6L2
0 reviews
Not set
Sources
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Bone marrow failure syndrome 2, 615715 (3)
Tags
Red Red List (low evidence)
EZH2
1 review
1 green
Unknown
Sources
  • BRIDGE consortium (NIHRBR-RD)
Phenotypes
  • Myelodysplastic syndrome (MDS), Paediatric
Tags
Red Red List (low evidence)
FANCM
3 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Expert list
  • Illumina TruGenome Clinical Sequencing Services
  • UKGTN
Phenotypes
  • Fanconi Anemia
  • Fanconi anemia, complementation group M, 614087
  • Fanconi anemia
  • Fanconi Anaemia
Tags
  • drug-toxicity
Red Red List (low evidence)
FBXW7
1 review
1 green
Unknown
Sources
  • BRIDGE consortium (NIHRBR-RD)
Phenotypes
  • Acute lymphoblastic leukemia (ALL)
Tags
Red Red List (low evidence)
FCGR3B
0 reviews
Not set
Sources
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Neutropenia,alloimmuneneonatal
Tags
Red Red List (low evidence)
FLT3
1 review
1 green
Unknown
Sources
  • BRIDGE consortium (NIHRBR-RD)
Phenotypes
  • Myelodysplastic syndrome (MDS), Paediatric
Tags
Red Red List (low evidence)
GCLC
1 review
1 green
Not set
Sources
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Hemolytic anemia due to gamma-glutamylcysteine synthetase deficiency, 230450{Myocardial infarction, susceptibility to}, 608446
Tags
Red Red List (low evidence)
GLRX5
0 reviews
Not set
Sources
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Anemia, sideroblastic, pyridoxine-refractory, autosomal recessive, 205950
Tags
Red Red List (low evidence)
GNAS
1 review
1 green
Unknown
Sources
  • BRIDGE consortium (NIHRBR-RD)
Phenotypes
  • Acute myeloid leukaemia (AML)
Tags
Red Red List (low evidence)
GNRHR2
1 review
Not set
Sources
  • UKGTN
Phenotypes
  • Thrombocytopenia Absent-Radius Syndrome
Tags
  • locus-type-pseudogene
Red Red List (low evidence)
GPI
1 review
1 green
Not set
Sources
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Hemolytic anemia, nonspherocytic, due to glucose phosphate isomerase deficiency, 613470
Tags
Red Red List (low evidence)
GPX1
1 review
1 green
Not set
Sources
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Hemolytic anemia due to glutathione peroxidase deficiency, 614164
Tags
Red Red List (low evidence)
GSR
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • BRIDGE consortium (NIHRBR-RD)
Phenotypes
  • Enzyme Disorder
  • Hemolytic anemia due to glutathione reductase deficiency
Tags
Red Red List (low evidence)
GSS
1 review
1 green
Not set
Sources
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Hemolytic anemia due to glutathione synthetase deficiency, 231900Glutathione synthetase deficiency, 266130
Tags
Red Red List (low evidence)
HBA1
1 review
1 green
Not set
Sources
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • 5' zeta pseudozeta pseudoalpha alpha 2 alpha 1 3'Thalassemias,alpha ,604131Methemoglobinemias,alpha Erythremias,alpha Heinzbodyanemias,alpha ,140700HemoglobinHdisease,nondeletional,613978
Tags
Red Red List (low evidence)
HBA2
1 review
1 green
Not set
Sources
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Thalassemia,alpha ,604131Heinzbodyanemia,140700ErythrocytosisHypochromicmicrocyticanemiaHemoglobinHdisease,nondeletional,613978
Tags
Red Red List (low evidence)
HBB
1 review
1 green
Not set
Sources
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Sicklecellanemia,603903Thalassemias,beta ,613985Erythremias,beta Methemoglobinemias,beta Heinzbodyanemias,beta ,140700Thalassemia beta,dominantinclusion body,603902Hereditarypersistenceoffetalhemoglobin,141749Delta betathalassemia,141749{Malaria,resistanceto},611162
Tags
Red Red List (low evidence)
HBD
0 reviews
Not set
Sources
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Thalassemia,delta ThalassemiaduetoHbLepore
Tags
Red Red List (low evidence)
HBG1
1 review
1 green
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • BRIDGE consortium (NIHRBR-RD)
Phenotypes
  • Globin Disorder
Tags
Red Red List (low evidence)
HBG2
1 review
1 green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • BRIDGE consortium (NIHRBR-RD)
Phenotypes
  • Globin Disorder
Tags
Red Red List (low evidence)
HEPH
0 reviews
Not set
Sources
  • UKGTN
Tags
Red Red List (low evidence)
HFE2
2 reviews
Not set
Sources
  • UKGTN
Phenotypes
  • Thrombocytopenia Absent-Radius Syndrome
Tags
  • new-gene-name
Red Red List (low evidence)
HK1
1 review
1 green
Not set
Sources
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Hemolytic anemia due to hexokinase deficiency, 235700Neuropathy, hereditary motor and sensory, Russe type, 605285
Tags
Red Red List (low evidence)
HOXA11
0 reviews
Not set
Sources
  • Expert list
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Congenital amegkaryocytic thrombocytopenia
  • Radioulnar synostosis with amegakaryocytic thrombocytopenia, 605432 -3
Tags
Red Red List (low evidence)
HRAS
1 review
1 green
Unknown
Sources
  • BRIDGE consortium (NIHRBR-RD)
Phenotypes
  • Myelodysplastic syndrome (MDS), Adult
Tags
Red Red List (low evidence)
IDH1
1 review
1 green
Unknown
Sources
  • BRIDGE consortium (NIHRBR-RD)
Phenotypes
  • Acute myeloid leukaemia (AML)
Tags
Red Red List (low evidence)
IDH2
1 review
1 green
Unknown
Sources
  • BRIDGE consortium (NIHRBR-RD)
Phenotypes
  • Acute myeloid leukaemia (AML)
Tags
Red Red List (low evidence)
IFNG
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Illumina TruGenome Clinical Sequencing Services
Phenotypes
  • Aplastic Anemia
Tags
Red Red List (low evidence)
IKZF1
1 review
1 green
Unknown
Sources
  • BRIDGE consortium (NIHRBR-RD)
Phenotypes
  • Acute lymphoblastic leukemia (ALL)
Tags
Red Red List (low evidence)
IRF1
0 reviews
Not set
Sources
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Myelodysplastic syndrome, preleukemic
  • Myelogenous leukemia, acute
  • Gastric cancer, somatic, 613659
  • Nonsmall cell lung cancer, somatic, 211980
Tags
Red Red List (low evidence)
ITGA10
1 review
Not set
Sources
  • UKGTN
Phenotypes
  • Thrombocytopenia Absent-Radius Syndrome
Tags
Red Red List (low evidence)
ITGA2B
0 reviews
Not set
Sources
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • BAK platelet antigen Glanzmann thrombasthenia, 273800
Tags
Red Red List (low evidence)
ITGB3
0 reviews
Not set
Sources
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • PL(A) platelet antigen Glanzmann thrombasthenia, 273800
Tags
Red Red List (low evidence)
JAK2
1 review
1 green
Unknown
Sources
  • BRIDGE consortium (NIHRBR-RD)
Phenotypes
  • Myeloproliferative neoplasms (MPN)
  • Acute myeloid leukaemia (AML)
Tags
Red Red List (low evidence)
JAK3
1 review
1 green
Unknown
Sources
  • BRIDGE consortium (NIHRBR-RD)
Phenotypes
  • Myelodysplastic syndrome (MDS), Paediatric
Tags
Red Red List (low evidence)
KDM6A
1 review
1 green
Unknown
Sources
  • BRIDGE consortium (NIHRBR-RD)
Phenotypes
  • Acute myeloid leukaemia (AML)
Tags
Red Red List (low evidence)
KIF23
1 review
1 green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • UKGTN
Phenotypes
  • DYSERYTHROPOIETIC ANEMIA, CONGENITAL, TYPE III CDA III
Tags
Red Red List (low evidence)
KIT
1 review
1 green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • BRIDGE consortium (NIHRBR-RD)
Phenotypes
  • Acute myeloid leukaemia (AML)
Tags
Red Red List (low evidence)
KMT2A
1 review
1 green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • BRIDGE consortium (NIHRBR-RD)
Phenotypes
  • Acute myeloid leukaemia (AML)
Tags
Red Red List (low evidence)
KRAS
1 review
1 green
Unknown
Sources
  • BRIDGE consortium (NIHRBR-RD)
Phenotypes
  • Myelodysplastic syndrome (MDS), Paediatric
Tags
Red Red List (low evidence)
LIX1L
1 review
Not set
Sources
  • UKGTN
Phenotypes
  • Thrombocytopenia Absent-Radius Syndrome
Tags
Red Red List (low evidence)
LPIN2
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • BRIDGE consortium (NIHRBR-RD)
Phenotypes
  • Microcytic anemia
  • Congenital dyserythropoietic anemia (CDA)
  • Majeed syndrome
Tags
Red Red List (low evidence)
MTR
0 reviews
Not set
Sources
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Homocystinuria-megaloblastic anemia, cblG complementation type, 250940{Neural tube defects, folate-sensitive, susceptibility to}, 601634
Tags
Red Red List (low evidence)
MTRR
0 reviews
Not set
Sources
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Homocystinuria-megaloblastic anemia, cbl E type, 236270{Neural tube defects, folate-sensitive, susceptibility to}, 601634
Tags
Red Red List (low evidence)
MYD88
1 review
1 green
Not set
Sources
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Pyogenic bacterial infections, recurrent, due to MYD88 deficiency, 612260
  • Macroglobulinemia, Waldenstrom, somatic, 153600
Tags
Red Red List (low evidence)
MYH9
0 reviews
Not set
Sources
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • May-Hegglin anomaly, 155100Fechtner syndrome, 153640Sebastian syndrome, 605249Deafness, autosomal dominant 17, 603622Epstein syndrome, 153650Macrothrombocytopenia and progressive sensorineural deafness, 600208
Tags
Red Red List (low evidence)
NBN
0 reviews
Not set
Sources
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Aplastic anemia, 609135
  • Leukemia, acute lymphoblastic, 613065
  • Nijmegen breakage syndrome, 251260
Tags
Red Red List (low evidence)
NF1
1 review
1 green
Unknown
Sources
  • BRIDGE consortium (NIHRBR-RD)
Phenotypes
  • Myelodysplastic syndrome (MDS), Paediatric
Tags
Red Red List (low evidence)
NOTCH1
1 review
1 green
Unknown
Sources
  • BRIDGE consortium (NIHRBR-RD)
Phenotypes
  • Acute lymphoblastic leukemia (ALL)
Tags
Red Red List (low evidence)
NPM1
1 review
1 green
Unknown
Sources
  • BRIDGE consortium (NIHRBR-RD)
Phenotypes
  • Acute myeloid leukaemia (AML)
Tags
Red Red List (low evidence)
NRAS
1 review
1 green
Unknown
Sources
  • BRIDGE consortium (NIHRBR-RD)
Phenotypes
  • Myelodysplastic syndrome (MDS), Paediatric
Tags
Red Red List (low evidence)
NT5C3A
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • UKGTN
Phenotypes
  • HEMOLYTIC ANEMIA DUE TO UMPH1 DEFICIENCY
Tags
Red Red List (low evidence)
NUDT1
1 review
Not set
Sources
  • UKGTN
Phenotypes
  • Thrombocytopenia Absent-Radius Syndrome
Tags
Red Red List (low evidence)
PDGFRA
1 review
1 green
Unknown
Sources
  • BRIDGE consortium (NIHRBR-RD)
Phenotypes
  • Eos leukaemia
  • Chronic eosinophilic leukaemia
Tags
Red Red List (low evidence)
PEX11B
1 review
Not set
Sources
  • UKGTN
Phenotypes
  • Thrombocytopenia Absent-Radius Syndrome
Tags
Red Red List (low evidence)
PFKM
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • BRIDGE consortium (NIHRBR-RD)
Phenotypes
  • Enzyme Disorder
  • Glycogen storage disease
Tags
Red Red List (low evidence)
PHF6
1 review
1 green
Unknown
Sources
  • BRIDGE consortium (NIHRBR-RD)
Phenotypes
  • Acute myeloid leukaemia (AML)
Tags
Red Red List (low evidence)
PIAS3
1 review
Not set
Sources
  • UKGTN
Phenotypes
  • Thrombocytopenia Absent-Radius Syndrome
Tags
Red Red List (low evidence)
PIEZO1
1 review
1 green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • BRIDGE consortium (NIHRBR-RD)
Phenotypes
  • Stomatocytosis
  • Dehydrated hereditary stomatocytosis
Tags
Red Red List (low evidence)
PIGA
0 reviews
Not set
Sources
  • Eligibility statement prior genetic testing
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Paroxysmal nocturnal hemoglobinuria, somatic, 300818
Tags
Red Red List (low evidence)
PIGT
0 reviews
Not set
Sources
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • ?Multiple congenital anomalies-hypotonia-seizures syndrome 3, 615398
  • ?Paroxysmal nocturnal hemoglobinuria 2, 615399
Tags
Red Red List (low evidence)
PKLR
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • UKGTN
Phenotypes
  • PYRUVATE KINASE DEFICIENCY
Tags
Red Red List (low evidence)
POLR3GL
1 review
Not set
Sources
  • UKGTN
Phenotypes
  • Thrombocytopenia Absent-Radius Syndrome
Tags
Red Red List (low evidence)
PRKG1
1 review
1 green
Unknown
Sources
  • BRIDGE consortium (NIHRBR-RD)
Phenotypes
  • Enzyme Disorder
Tags
Red Red List (low evidence)
PTEN
1 review
1 green
Unknown
Sources
  • BRIDGE consortium (NIHRBR-RD)
Phenotypes
  • Myelodysplastic syndrome (MDS), Adult
  • Myelodysplastic syndrome (MDS), Paediatric
  • Acute myeloid leukaemia (AML)
Tags
Red Red List (low evidence)
PTPN11
1 review
1 green
Unknown
Sources
  • BRIDGE consortium (NIHRBR-RD)
Phenotypes
  • Myelodysplastic syndrome (MDS), Paediatric
Tags
Red Red List (low evidence)
RAC2
0 reviews
Not set
Sources
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Neutrophil immunodeficiency syndrome, 608203
Tags
Red Red List (low evidence)
RAD21
1 review
1 green
Unknown
Sources
  • BRIDGE consortium (NIHRBR-RD)
Phenotypes
  • Acute myeloid leukaemia (AML)
  • Especially in Down syndrome AML
Tags
Red Red List (low evidence)
RHAG
1 review
1 green
Not set
Sources
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Anemia,hemolytic,Rh null,regulatortype,268150Rh modsyndrome
Tags
Red Red List (low evidence)
RMRP
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • BRIDGE consortium (NIHRBR-RD)
Phenotypes
  • Severe congenital neutropenia
  • Cartilage-hair hypoplasia
Tags
Red Red List (low evidence)
RPL15
1 review
1 green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • BRIDGE consortium (NIHRBR-RD)
Phenotypes
  • Diamond Blackfan Anaemia (DBA)
Tags
Red Red List (low evidence)
RPL19
1 review
1 green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • UKGTN
Phenotypes
  • Diamond-Blackfan anemia 12
Tags
Red Red List (low evidence)
RPL26
1 review
1 green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert list
Phenotypes
  • Diamond Blackfan anemia
  • DIAMOND-BLACKFAN ANEMIA 11
Tags
Red Red List (low evidence)
RPL27
1 review
1 green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • UKGTN
Phenotypes
  • Diamond-Blackfan anemia
Tags
Red Red List (low evidence)
RPL9
1 review
1 green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • UKGTN
Phenotypes
  • Diamond-Blackfan anemia
Tags
Red Red List (low evidence)
RPS14
1 review
1 green
Not set
Sources
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Macrocyticanemia,refractory,dueto5qdeletion,somatic,153550 3
  • Macrocytic anemia, refractory, due to 5q deletion, somatic, 153550 -3
Tags
Red Red List (low evidence)
RPS27
1 review
1 green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • UKGTN
Phenotypes
  • Diamond-Blackfan anemia
Tags
Red Red List (low evidence)
RPS29
1 review
1 green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert list
Phenotypes
  • Diamond Blackfan anemia
  • Diamond-Blackfan anemia
Tags
Red Red List (low evidence)
RUNX1
1 review
1 green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert list
  • UKGTN
Phenotypes
  • Inherited Bone Marrow Failure Syndromes - Thrombocytopenia
  • Familial MDS (Myelodysplastic syndromes)
  • Platelet Disorder, Familial, With Associated Myeloid Malignancy
Tags
Red Red List (low evidence)
SETBP1
1 review
1 green
Unknown
Sources
  • BRIDGE consortium (NIHRBR-RD)
Phenotypes
  • Myelodysplastic syndrome (MDS), Paediatric
Tags
Red Red List (low evidence)
SF3B1
1 review
1 green
Not set
Sources
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Myelodysplastic syndrome, somatic, 614286
Tags
Red Red List (low evidence)
SH3BP1
1 review
1 green
Unknown
Sources
  • BRIDGE consortium (NIHRBR-RD)
Phenotypes
  • Myelodysplastic syndrome (MDS), Paediatric
Tags
Red Red List (low evidence)
SLC2A1
1 review
1 green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • BRIDGE consortium (NIHRBR-RD)
Phenotypes
  • Stomatocytosis
  • Pyridoxine-refractory sideroblastic anemia
Tags
Red Red List (low evidence)
SLC34A1
0 reviews
Not set
Sources
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Nephrolithiasis/osteoporosis, hypophosphatemic, 1, 612286
  • Fanconi renotubular syndrome 2, 613388
Tags
Red Red List (low evidence)
SLC4A1
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Illumina TruGenome Clinical Sequencing Services
Phenotypes
  • Hemolytic Anemia
Tags
Red Red List (low evidence)
SMC1A
1 review
1 green
Unknown
Sources
  • BRIDGE consortium (NIHRBR-RD)
Phenotypes
  • Acute myeloid leukaemia (AML)
  • Especially in Down syndrome AML
Tags
Red Red List (low evidence)
SMC3
1 review
1 green
Unknown
Sources
  • BRIDGE consortium (NIHRBR-RD)
Phenotypes
  • Acute myeloid leukaemia (AML)
  • Especially in Down syndrome AML
Tags
Red Red List (low evidence)
SPTA1
1 review
1 green
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • BRIDGE consortium (NIHRBR-RD)
Phenotypes
  • RBC membrane abnormality
  • Elliptocytosis (MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown)
  • Pyropoikilocytosis (BIALLELIC, autosomal or pseudoautosomal)
  • Spherocytosis (BIALLELIC, autosomal or pseudoautosomal)
Tags
Red Red List (low evidence)
SPTB
1 review
1 green
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • BRIDGE consortium (NIHRBR-RD)
Phenotypes
  • RBC membrane abnormality
  • Elliptocytosis (MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown)
  • Spherocytosis (BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Tags
Red Red List (low evidence)
SRSF2
1 review
1 green
Unknown
Sources
  • BRIDGE consortium (NIHRBR-RD)
Phenotypes
  • Myelodysplastic syndrome (MDS), Paediatric
Tags
Red Red List (low evidence)
STAG2
1 review
1 green
Unknown
Sources
  • BRIDGE consortium (NIHRBR-RD)
Phenotypes
  • Acute myeloid leukaemia (AML)
  • Especially in Down syndrome AML
Tags
Red Red List (low evidence)
TAZ
0 reviews
Not set
Sources
  • UKGTN
Phenotypes
  • Barth Syndrome
Tags
Red Red List (low evidence)
TERC
2 reviews
1 green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Eligibility statement prior genetic testing
  • Expert list
  • UKGTN
Phenotypes
  • Inherited Bone Marrow Failure Syndromes
  • Inherited Bone Marrow Failure Syndromes - Aplastic Anaemia
  • Telomere_Related Pulmonary Fibrosis And/Or Bone Marrow Failure_2
  • Dyskeratosis congenita
  • Dyskeratosis Congenita, Autosomal Dominant, 1
  • Telomere_Related Pulmonary Fibrosis And/Or Bone Marrow Failure_1
  • DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT, 1
Tags
  • locus-type-rna-misc
Red Red List (low evidence)
TET2
1 review
1 green
Not set
Sources
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Myelodysplastic syndrome, somatic, 614286
Tags
Red Red List (low evidence)
TF
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • UKGTN
Tags
Red Red List (low evidence)
TP53
1 review
1 green
Unknown
Sources
  • BRIDGE consortium (NIHRBR-RD)
Phenotypes
  • Myelodysplastic syndrome (MDS), Paediatric
Tags
Red Red List (low evidence)
TPI1
1 review
1 green
Not set
Sources
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Hemolytic anemia due to triosephosphate isomerase deficiency
Tags
Red Red List (low evidence)
TUBB1
0 reviews
Not set
Sources
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Macrothrombocytopenia, autosomal dominant, TUBB1-related, 613112
Tags
Red Red List (low evidence)
TXNIP
1 review
Not set
Sources
  • UKGTN
Phenotypes
  • Thrombocytopenia Absent-Radius Syndrome
Tags
Red Red List (low evidence)
U2AF1
2 reviews
1 green
Unknown
Sources
  • Expert Review Red
Phenotypes
  • Acute myeloid leukaemia (AML)
  • Myelodysplastic syndrome (MDS)
Tags
Red Red List (low evidence)
UBE2T
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • BRIDGE consortium (NIHRBR-RD)
Phenotypes
  • Fanconi anemia
Tags
Red Red List (low evidence)
USB1
1 review
1 green
Not set
Sources
  • Expert list
Phenotypes
  • Dyskeratosis congenita
Tags
Red Red List (low evidence)
VPS45
1 review
1 green
Not set
Sources
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Neutropenia,severecongenital,5,autosomalrecessive,615285
Tags
Red Red List (low evidence)
WIPF1
0 reviews
Not set
Sources
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Wiskott-Aldrich syndrome 2, 614493
Tags
Red Red List (low evidence)
WT1
1 review
1 green
Unknown
Sources
  • BRIDGE consortium (NIHRBR-RD)
Phenotypes
  • Acute myeloid leukaemia (AML)
Tags
Red Red List (low evidence)
ZRSR2
1 review
1 green
Unknown
Sources
  • BRIDGE consortium (NIHRBR-RD)
Phenotypes
  • Acute myeloid leukaemia (AML)
  • Chronic Myeloid Leukemia (CML)
Tags

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