Early onset pancytopenia and red cell disorders (Version 0.260)

This Panel is marked as Internal

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.

Panel Activity

5 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
Catherine Snow (Genomics England)

Group: Other
Workplace: Other

101 Entities

17 reviewed, 33 green

List	Entity	Reviews	Mode of inheritance	Details
Filter Entities 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	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Eligibility statement prior genetic testing UKGTN Phenotypes Congenital Dyserythropoietic Anemia N/A Tags new-gene-name
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 list Expert Review Red 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

Early onset pancytopenia and red cell disorders (Version 0.260)

5 reviewers

101 Entities

17 reviewed, 33 green

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