Description
Inclusion criteria 
•	Anaemia on more than one occasion

Exclusion criteria:
•	Evidence that the anaemia is acquired (e.g. low B12, folate or ferritin or cytogenetic abnormalities)

Prior Genetic Testing:
•	Results should have been reviewed for all genetic tests undertaken. This includes review of available exome sequencing data, but where this is the case can be limited to genes specified within disease-relevant in silico panels. The patient is not eligible if a pathogenic variant has been identified in any gene related to their phenotype.
•	Standard local genetic testing and nationally commissioned testing for this phenotype should have been completed AND
•	Testing should be undertaken for any individual gene for which diagnostic yield is >10% for this phenotype AND
•	The following specific gene tests are advised as a means of limiting the re-discovery of recognised pathogenic variants that could be more efficiently identified through the existing catalogue of UKGTN tests: 
-	As appropriate based on presentation
e.g. Sideroblastic anaemia – ALAS2, SLC25A38;                                 Congenital Dyserythropoietic Anemia – C15orf41, CDAN1, GATA1

These requirements will be kept under continual review during the main programme and may be subject to change.

4 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

  • Louise Daugherty (Genomics England Curator)

    Group: Other
    Workplace: Other

101 Entities

16 reviewed, 33 green

List Entity Reviews Mode of inheritance Details
101 Entitiess
Green Green List (high evidence)
BRCA2
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Illumina TruGenome Clinical Sequencing Services
  • Radboud University Medical Center, Nijmegen
  • UKGTN
Phenotypes
  • 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 Anemia
  • Fanconi Anaemia
Tags
Green Green List (high evidence)
BRIP1
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Illumina TruGenome Clinical Sequencing Services
  • Radboud University Medical Center, Nijmegen
  • UKGTN
Phenotypes
  • Fanconi anemia
  • ?Breast cancer, early-onset, 114480
  • Fanconi anemia, complementation group J, 609054
  • Fanconi Anemia
  • Fanconi Anaemia
Tags
Green Green List (high evidence)
DKC1
0 reviews
X-LINKED: hemizygous mutation in males, may be caused by monoallelic mutations in females
Sources
  • 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
Tags
Green Green List (high evidence)
FANCA
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Illumina TruGenome Clinical Sequencing Services
  • Radboud University Medical Center, Nijmegen
  • UKGTN
Phenotypes
  • Fanconi anemia
  • Fanconi anemia, complementation group A, 227650
  • Fanconi Anemia
  • Fanconi Anaemia
Tags
Green Green List (high evidence)
FANCB
0 reviews
X-LINKED: hemizygous mutation in males, may be caused by monoallelic mutations in females
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
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Illumina TruGenome Clinical Sequencing Services
  • Radboud University Medical Center, Nijmegen
  • UKGTN
Phenotypes
  • Fanconi anemia
  • Fanconi anemia, complementation group C, 227645
  • Fanconi Anemia
  • Fanconi Anaemia
Tags
Green Green List (high evidence)
FANCD2
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Illumina TruGenome Clinical Sequencing Services
  • Radboud University Medical Center, Nijmegen
  • UKGTN
Phenotypes
  • Fanconi anemia
  • Fanconi anemia, complementation group D2, 227646
  • Fanconi Anemia
  • Fanconi Anaemia
Tags
Green Green List (high evidence)
FANCE
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Illumina TruGenome Clinical Sequencing Services
  • Radboud University Medical Center, Nijmegen
  • UKGTN
Phenotypes
  • Fanconi anemia
  • Fanconi anemia, complementation group E, 600901
  • Fanconi Anemia
  • Fanconi Anaemia
Tags
Green Green List (high evidence)
FANCF
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Illumina TruGenome Clinical Sequencing Services
  • Radboud University Medical Center, Nijmegen
  • UKGTN
Phenotypes
  • Fanconi anemia
  • Fanconi anemia, complementation group F, 603467
  • Fanconi Anemia
  • Fanconi Anaemia
Tags
Green Green List (high evidence)
FANCG
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Illumina TruGenome Clinical Sequencing Services
  • Radboud University Medical Center, Nijmegen
  • UKGTN
Phenotypes
  • Fanconi anemia
  • Fanconi anemia, complementation group G, 614082
  • Fanconi Anemia
  • Fanconi Anaemia
Tags
Green Green List (high evidence)
FANCI
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Illumina TruGenome Clinical Sequencing Services
  • Radboud University Medical Center, Nijmegen
  • UKGTN
Phenotypes
  • Fanconi anemia
  • Fanconi anemia, complementation group I, 609053
  • Fanconi Anemia
  • Fanconi Anaemia
Tags
Green Green List (high evidence)
FANCL
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Illumina TruGenome Clinical Sequencing Services
  • Radboud University Medical Center, Nijmegen
  • UKGTN
Phenotypes
  • Fanconi anemia
  • Fanconi anemia, complementation group L, 614083
  • Fanconi Anemia
  • Fanconi Anaemia
Tags
Green Green List (high evidence)
G6PC3
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Illumina TruGenome Clinical Sequencing Services
  • Radboud University Medical Center, Nijmegen
  • UKGTN
Phenotypes
  • 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)
GATA2
0 reviews
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert list
  • Illumina TruGenome Clinical Sequencing Services
  • Radboud University Medical Center, Nijmegen
  • UKGTN
Phenotypes
  • 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
0 reviews
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert list
  • Illumina TruGenome Clinical Sequencing Services
  • Radboud University Medical Center, Nijmegen
  • UKGTN
Phenotypes
  • 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
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Illumina TruGenome Clinical Sequencing Services
  • Radboud University Medical Center, Nijmegen
  • UKGTN
Phenotypes
  • Severe congenital neutropenic
  • Neutropenia, Severe Congenital, 3 Autosomal Dominant
  • Neutropenia, severe congenital 3, autosomal recessive, 610738
Tags
Green Green List (high evidence)
MPL
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Illumina TruGenome Clinical Sequencing Services
  • Radboud University Medical Center, Nijmegen
  • UKGTN
Phenotypes
  • Congenital Amegakaryocytic Thrombocytopenia
  • Congenital amegkaryocytic thrombocytopenia
  • Amegakaryocytic Thrombocytopenia, Congenital
Tags
Green Green List (high evidence)
NHP2
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Illumina TruGenome Clinical Sequencing Services
  • Radboud University Medical Center, Nijmegen
  • UKGTN
Phenotypes
  • 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
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Illumina TruGenome Clinical Sequencing Services
  • Radboud University Medical Center, Nijmegen
  • UKGTN
Phenotypes
  • 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
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Illumina TruGenome Clinical Sequencing Services
  • Radboud University Medical Center, Nijmegen
  • UKGTN
Phenotypes
  • Fanconi anemia
  • Fanconi anemia, complementation group N, 610832
  • {Breast cancer, susceptibility to}, 114480
  • {Pancreatic cancer, susceptibility to, 3}, 613348
  • Fanconi Anemia
  • Fanconi Anaemia
Tags
Green Green List (high evidence)
RAD51C
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Illumina TruGenome Clinical Sequencing Services
  • Radboud University Medical Center, Nijmegen
  • UKGTN
Phenotypes
  • Fanconi anemia
  • Fanconi anemia, complementation group O, 613390
  • {Breast-ovarian cancer, familial, susceptibility to, 3}, 613399
  • Fanconi Anemia
  • Fanconi Anaemia
Tags
Green Green List (high evidence)
RPL11
0 reviews
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert list
  • Illumina TruGenome Clinical Sequencing Services
  • Radboud University Medical Center, Nijmegen
  • UKGTN
Phenotypes
  • Diamond Blackfan anemia
  • Diamond-Blackfan anemia 7, 612562
  • Diamond-Blackfan Anemia
  • Diamond_Blackfan Anemia 7
  • DIAMOND-BLACKFAN ANEMIA 7
Tags
Green Green List (high evidence)
RPL35A
0 reviews
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert list
  • Illumina TruGenome Clinical Sequencing Services
  • Radboud University Medical Center, Nijmegen
  • UKGTN
Phenotypes
  • Diamond Blackfan anemia
  • Diamond-Blackfan anemia 5, 612528
  • Diamond-Blackfan Anemia
  • Diamond_Blackfan Anemia 5
  • DIAMOND-BLACKFAN ANEMIA 5
Tags
Green Green List (high evidence)
RPL5
0 reviews
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert list
  • Illumina TruGenome Clinical Sequencing Services
  • Radboud University Medical Center, Nijmegen
  • UKGTN
Phenotypes
  • Diamond Blackfan anemia
  • Diamond-Blackfan anemia 6, 612561
  • Diamond-Blackfan Anemia
  • Diamond_Blackfan Anemia 6
  • DIAMOND-BLACKFAN ANEMIA 6
Tags
Green Green List (high evidence)
RPS10
0 reviews
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert list
  • Illumina TruGenome Clinical Sequencing Services
  • Radboud University Medical Center, Nijmegen
  • UKGTN
Phenotypes
  • Diamond Blackfan anemia
  • Diamond-Blackfan anemia 9, 613308
  • Diamond-Blackfan Anemia
  • Diamond_Blackfan Anemia 9
  • DIAMOND-BLACKFAN ANEMIA 9
Tags
Green Green List (high evidence)
RPS19
0 reviews
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert list
  • Illumina TruGenome Clinical Sequencing Services
  • Radboud University Medical Center, Nijmegen
  • UKGTN
Phenotypes
  • Diamond Blackfan anemia
  • Diamond-Blackfan anemia 1, 105650
  • Diamond-Blackfan Anemia
  • Diamond_Blackfan Anemia
  • DIAMOND-BLACKFAN ANEMIA 1
Tags
Green Green List (high evidence)
RPS24
0 reviews
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert list
  • Illumina TruGenome Clinical Sequencing Services
  • Radboud University Medical Center, Nijmegen
  • UKGTN
Phenotypes
  • Diamond Blackfan anemia
  • Diamond-blackfan anemia 3, 610629
  • Diamond-Blackfan Anemia
  • Diamond_Blackfan Anemia 3
  • DIAMOND-BLACKFAN ANEMIA 3
Tags
Green Green List (high evidence)
RPS26
0 reviews
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert list
  • Illumina TruGenome Clinical Sequencing Services
  • Radboud University Medical Center, Nijmegen
  • UKGTN
Phenotypes
  • Diamond Blackfan anemia
  • Diamond-Blackfan anemia 10, 613309
  • Diamond-Blackfan Anemia
  • Diamond_Blackfan Anemia 10
  • Diamond-Blackfan anemia 10
Tags
Green Green List (high evidence)
RPS7
0 reviews
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert list
  • Illumina TruGenome Clinical Sequencing Services
  • Radboud University Medical Center, Nijmegen
  • UKGTN
Phenotypes
  • Diamond Blackfan anemia
  • Diamond-Blackfan anemia 8, 612563
  • Diamond-Blackfan Anemia
  • Diamond_Blackfan Anemia 8
  • DIAMOND-BLACKFAN ANEMIA 8
Tags
Green Green List (high evidence)
SLX4
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Illumina TruGenome Clinical Sequencing Services
  • Radboud University Medical Center, Nijmegen
  • UKGTN
Phenotypes
  • Fanconi anemia
  • Fanconi anemia, complementation group P, 613951
  • Fanconi Anemia
  • Fanconi Anaemia
Tags
Green Green List (high evidence)
TERT
0 reviews
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert list
  • Illumina TruGenome Clinical Sequencing Services
  • Radboud University Medical Center, Nijmegen
  • UKGTN
Phenotypes
  • 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
  • {Leukemia, acute myeloid}, 601626
  • {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
0 reviews
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert list
  • Illumina TruGenome Clinical Sequencing Services
  • Radboud University Medical Center, Nijmegen
  • UKGTN
Phenotypes
  • Dyskeratosis congenita
  • Dyskeratosis congenita, autosomal dominant 3, 613990
  • Revesz syndrome, 268130
  • Dyskeratosis Congenita, Dominant
  • Dyskeratosis Congenita, Autosomal Dominant, 3
  • Revesz Syndrome
  • DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT, 3
Tags
Green Green List (high evidence)
WRAP53
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Illumina TruGenome Clinical Sequencing Services
  • Radboud University Medical Center, Nijmegen
  • UKGTN
Phenotypes
  • Dyskeratosis congenita
  • Dyskeratosis congenita, autosomal recessive 3, 613988
  • Dyskeratosis Congenita, Recessive
  • Dyskeratosis Congenita, Autosomal Recessive, 3
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)
CTC1
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Illumina TruGenome Clinical Sequencing Services
  • UKGTN
Phenotypes
  • Dyskeratosis congenita
  • Dyskeratosis Congenita, Recessive
  • Cerebroretinal microangiopathy with calcifications and cysts/CTC1 related Dyskeratosis Congenita
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
0 reviews
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert list
  • Radboud University Medical Center, Nijmegen
  • UKGTN
Phenotypes
  • 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)
ERCC4
0 reviews
Not set
Sources
  • Radboud University Medical Center, Nijmegen
  • UKGTN
Phenotypes
  • 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
Amber Amber List (moderate evidence)
GATA1
0 reviews
X-LINKED: hemizygous mutation in males, may be caused by monoallelic mutations in females
Sources
  • Eligibility statement prior genetic testing
  • Expert list
  • 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
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)
RBM8A
1 review
Not set
Sources
  • Radboud University Medical Center, Nijmegen
  • UKGTN
Phenotypes
  • Thrombocytopenia Absent-Radius Syndrome
Tags
Amber Amber List (moderate evidence)
RPS17
0 reviews
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert list
  • Radboud University Medical Center, Nijmegen
  • UKGTN
Phenotypes
  • Diamond Blackfan anemia
  • Diamond-Blackfan anemia 4, 612527
  • Diamond_Blackfan Anemia 4
  • DIAMOND-BLACKFAN ANEMIA 4
Tags
Amber Amber List (moderate evidence)
RTEL1
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Radboud University Medical Center, Nijmegen
  • UKGTN
Phenotypes
  • Dyskeratosis congenita
  • Dyskeratosis congenita, autosomal recessive 5, 615190
  • Dyskeratosis congenita, autosomal dominant 4, 615190
  • Dyskeratosis Congenita, Autosomal Dominant, 4
  • Dyskeratosis Congenita, Autosomal Recessive, 5
Tags
Amber Amber List (moderate evidence)
SBDS
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Radboud University Medical Center, Nijmegen
  • UKGTN
Phenotypes
  • Shwachman Diamond syndrome (SDS)
  • Shwachman-Bodian-Diamond syndrome, 260400
  • Shwachman-Diamond Syndrome
  • SHWACHMAN-DIAMOND SYNDROME
Tags
Amber Amber List (moderate evidence)
WAS
0 reviews
X-LINKED: hemizygous mutation in males, may be caused by monoallelic mutations in females
Sources
  • Expert list
  • Radboud University Medical Center, Nijmegen
  • UKGTN
Phenotypes
  • Wiskott-Aldrich syndrome, 301000Thrombocytopenia, X-linked, 313900Neutropenia, severe congenital, X-linked, 300299Thrombocytopenia, 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
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)
ALAS2
0 reviews
X-LINKED: hemizygous mutation in males, may be caused by monoallelic mutations in females
Sources
  • Eligibility statement prior genetic testing
  • UKGTN
Phenotypes
  • Sideroblastic anaemia
  • ANEMIA, HEREDITARYSIDEROBLASTIC X-linked
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)
ASXL1
0 reviews
Not set
Sources
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Bohring-Opitz syndrome, 605039
  • Myelodysplastic syndrome, somatic, 614286
Tags
Red Red List (low evidence)
C15orf41
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Eligibility statement prior genetic testing
  • UKGTN
Phenotypes
  • Congenital Dyserythropoietic Anemia
  • N/A
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)
CDAN1
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Eligibility statement prior genetic testing
  • UKGTN
Phenotypes
  • Congenital Dyserythropoietic Anemia
  • ANEMIA, CONGENITAL DYSERYTHROPOIETIC, TYPE I
Tags
Red Red List (low evidence)
CEBPA
1 review
Not set
Sources
  • Expert list
Phenotypes
  • Familial MDS (Myelodysplastic syndromes)
Tags
Red Red List (low evidence)
CSF3R
0 reviews
Not set
Sources
  • Expert list
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Severe congenital neutropenic
  • Neutrophilia, hereditary, 162830
Tags
Red Red List (low evidence)
CXCR4
0 reviews
Not set
Sources
  • Expert list
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • WHIM sydrome
  • WHIM syndrome, 193670
  • Myelokathexis, isolated
Tags
Red Red List (low evidence)
FANCM
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Expert list
  • Illumina TruGenome Clinical Sequencing Services
  • Radboud University Medical Center, Nijmegen
  • UKGTN
Phenotypes
  • Fanconi anemia
  • Fanconi anemia, complementation group M, 614087
  • Fanconi Anemia
  • Fanconi Anaemia
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)
G6PD
0 reviews
X-LINKED: hemizygous mutation in males, may be caused by monoallelic mutations in females
Sources
  • UKGTN
Phenotypes
  • Hemolytic anemia due to G6PD deficiency
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)
HFE2
2 reviews
Not set
Sources
  • UKGTN
Phenotypes
  • Thrombocytopenia Absent-Radius Syndrome
Tags
  • new-gene-name
Red Red List (low evidence)
HOXA11
0 reviews
Not set
Sources
  • Expert list
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Radioulnar synostosis with amegakaryocytic thrombocytopenia, 605432 -3
  • Congenital amegkaryocytic thrombocytopenia
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)
KIF23
0 reviews
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • UKGTN
Phenotypes
  • DYSERYTHROPOIETIC ANEMIA, CONGENITAL, TYPE III CDA III
Tags
Red Red List (low evidence)
KLF1
0 reviews
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • UKGTN
Phenotypes
  • Anemia, dyserythropoietic congenital, type IV
Tags
Red Red List (low evidence)
LIX1L
1 review
Not set
Sources
  • UKGTN
Phenotypes
  • Thrombocytopenia Absent-Radius Syndrome
Tags
Red Red List (low evidence)
MYD88
0 reviews
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)
NT5C3A
0 reviews
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)
PEX11B
1 review
Not set
Sources
  • UKGTN
Phenotypes
  • Thrombocytopenia Absent-Radius Syndrome
Tags
Red Red List (low evidence)
PIAS3
1 review
Not set
Sources
  • UKGTN
Phenotypes
  • Thrombocytopenia Absent-Radius Syndrome
Tags
Red Red List (low evidence)
PKLR
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • UKGTN
Phenotypes
  • PYRUVATE KINASE DEFICIENCY
Tags
Red Red List (low evidence)
POLR3GL
1 review
Unknown
Sources
  • UKGTN
Phenotypes
  • Thrombocytopenia Absent-Radius Syndrome
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)
RPL19
0 reviews
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • UKGTN
Phenotypes
  • Diamond-Blackfan anemia 12
Tags
Red Red List (low evidence)
RPL26
0 reviews
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert list
  • UKGTN
Phenotypes
  • Diamond Blackfan anemia
  • DIAMOND-BLACKFAN ANEMIA 11
Tags
Red Red List (low evidence)
RPL27
0 reviews
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • UKGTN
Phenotypes
  • Diamond-Blackfan anemia
Tags
Red Red List (low evidence)
RPL9
0 reviews
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • UKGTN
Phenotypes
  • Diamond-Blackfan anemia
Tags
Red Red List (low evidence)
RPS14
0 reviews
Not set
Sources
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Macrocytic anemia, refractory, due to 5q deletion, somatic, 153550 -3
Tags
Red Red List (low evidence)
RPS27
0 reviews
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • UKGTN
Phenotypes
  • Diamond-Blackfan anemia
Tags
Red Red List (low evidence)
RPS29
0 reviews
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert list
  • UKGTN
Phenotypes
  • Diamond Blackfan anemia
  • Diamond-Blackfan anemia
Tags
Red Red List (low evidence)
RUNX1
0 reviews
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert list
  • UKGTN
Phenotypes
  • Familial MDS (Myelodysplastic syndromes)
  • Platelet Disorder, Familial, With Associated Myeloid Malignancy
Tags
Red Red List (low evidence)
SEC23B
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • UKGTN
Phenotypes
  • ANEMIA, DYSERYTHROPOIETIC CONGENITAL, TYPE II
Tags
Red Red List (low evidence)
SF3B1
0 reviews
Not set
Sources
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Myelodysplastic syndrome, somatic, 614286
Tags
Red Red List (low evidence)
SLC25A38
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Eligibility statement prior genetic testing
  • UKGTN
Phenotypes
  • Sideroblastic anaemia
  • ANEMIA, SIDEROBLASTIC, PYRIDOXINE-REFRACTORY, AUTOSOMAL RECESSIVE
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)
SRP72
0 reviews
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert list
  • UKGTN
Phenotypes
  • Familial MDS (Myelodysplastic syndromes)
  • Bone Marrow Failure, Familial
Tags
Red Red List (low evidence)
TAZ
0 reviews
Not set
Sources
  • UKGTN
Phenotypes
  • Barth Syndrome
Tags
Red Red List (low evidence)
TCN2
2 reviews
2 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • 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
Red Red List (low evidence)
TERC
1 review
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert list
  • UKGTN
Phenotypes
  • 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
0 reviews
Not set
Sources
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Myelodysplastic syndrome, somatic, 614286
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)
USB1
0 reviews
Not set
Sources
  • Expert list
Phenotypes
  • Dyskeratosis congenita
Tags
Red Red List (low evidence)
VPS45
0 reviews
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

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