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  1. Panels
  2. Congenital anaemias
This Panel is marked as Internal

Congenital anaemias (Version 0.99)

Level 3: Anaemias and red cell disorders
Level 2: Haematological disorders

Previous code: 553f959abb5a1616e5ed45b2
Description
Relevant diseases:
•	Early onset pancytopenia and red cell disorders
•	Congenital anaemias

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:
•	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
Panel Activity

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

  • Catherine Snow (Genomics England)

    Group: Other
    Workplace: Other

83 Entities

4 reviewed, 29 green

List Entity Reviews Mode of inheritance Details
83 Entitiess
Green List (high evidence)
ALAS2
0 reviews
 X-LINKED: hemizygous mutation in males, may be caused by monoallelic mutations in females
Sources
  • Eligibility statement prior genetic testing
  • Illumina TruGenome Clinical Sequencing Services
  • Radboud University Medical Center, Nijmegen
  • UKGTN
Phenotypes
  • Anemia, sideroblastic, X-linked, 300751Protoporphyria, erythropoietic, X-linked, 300752
  • Sideroblastic Anemia and Ataxia
  • Sideroblastic anaemia
Tags
Green List (high evidence)
BRCA2
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Illumina TruGenome Clinical Sequencing Services
  • Radboud University Medical Center, Nijmegen
  • 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
Tags
Green List (high evidence)
BRIP1
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Illumina TruGenome Clinical Sequencing Services
  • Radboud University Medical Center, Nijmegen
  • UKGTN
Phenotypes
  • Fanconi Anemia
  • ?Breast cancer, early-onset, 114480Fanconi anemia, complementation group J, 609054
Tags
Green List (high evidence)
CDAN1
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Eligibility statement prior genetic testing
  • Illumina TruGenome Clinical Sequencing Services
  • Radboud University Medical Center, Nijmegen
  • UKGTN
Phenotypes
  • Congenital Dyserythropoietic Anemia
  • Anemia,congenitaldyserythropoietic,typeI,224120
Tags
Green List (high evidence)
FANCA
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Illumina TruGenome Clinical Sequencing Services
  • Radboud University Medical Center, Nijmegen
  • UKGTN
Phenotypes
  • Fanconi Anemia
  • Fanconi anemia, complementation group A, 227650
Tags
Green List (high evidence)
FANCB
0 reviews
 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
  • Fanconi anemia
  • Fanconi anemia, complementation group B, 300514
  • Fanconi Anemia, X-Linked
Tags
Green List (high evidence)
FANCC
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Illumina TruGenome Clinical Sequencing Services
  • Radboud University Medical Center, Nijmegen
  • UKGTN
Phenotypes
  • Fanconi Anemia
  • Fanconi anemia, complementation group C, 227645
Tags
Green List (high evidence)
FANCD2
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Illumina TruGenome Clinical Sequencing Services
  • Radboud University Medical Center, Nijmegen
  • UKGTN
Phenotypes
  • Fanconi Anemia
  • Fanconi anemia, complementation group D2, 227646
Tags
Green List (high evidence)
FANCE
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Illumina TruGenome Clinical Sequencing Services
  • Radboud University Medical Center, Nijmegen
  • UKGTN
Phenotypes
  • Fanconi Anemia
  • Fanconi anemia, complementation group E, 600901
Tags
Green List (high evidence)
FANCF
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Illumina TruGenome Clinical Sequencing Services
  • Radboud University Medical Center, Nijmegen
  • UKGTN
Phenotypes
  • Fanconi Anemia
  • Fanconi anemia, complementation group F, 603467
Tags
Green List (high evidence)
FANCG
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Illumina TruGenome Clinical Sequencing Services
  • Radboud University Medical Center, Nijmegen
  • UKGTN
Phenotypes
  • Fanconi Anemia
  • Fanconi anemia, complementation group G, 614082
Tags
Green List (high evidence)
FANCI
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Illumina TruGenome Clinical Sequencing Services
  • Radboud University Medical Center, Nijmegen
  • UKGTN
Phenotypes
  • Fanconi Anemia
  • Fanconi anemia, complementation group I, 609053
Tags
Green List (high evidence)
FANCL
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Illumina TruGenome Clinical Sequencing Services
  • Radboud University Medical Center, Nijmegen
  • UKGTN
Phenotypes
  • Fanconi Anemia
  • Fanconi anemia, complementation group L, 614083
Tags
Green List (high evidence)
G6PD
0 reviews
 X-LINKED: hemizygous mutation in males, may be caused by monoallelic mutations in females
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
Tags
Green List (high evidence)
KLF1
0 reviews
 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
  • Bloodgroup Lutheraninhibitor,111150[Hereditarypersistenceoffetalhemoglobin],613566Anemia,dyserythropoieticcongenital,typeIV,613673
Tags
Green List (high evidence)
PALB2
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • 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
Tags
Green List (high evidence)
RAD51C
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • 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
Tags
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
Tags
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
Tags
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
Tags
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
Tags
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
Tags
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
Tags
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
Tags
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
Tags
Green List (high evidence)
SEC23B
0 reviews
 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
Tags
Green List (high evidence)
SLC25A38
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Eligibility statement prior genetic testing
  • Illumina TruGenome Clinical Sequencing Services
  • Radboud University Medical Center, Nijmegen
  • UKGTN
Phenotypes
  • Anemia, sideroblastic, pyridoxine-refractory, autosomal recessive, 205950
  • Hereditary Sideroblastic Anemia
  • Sideroblastic anaemia
Tags
Green List (high evidence)
SLX4
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Illumina TruGenome Clinical Sequencing Services
  • Radboud University Medical Center, Nijmegen
  • UKGTN
Phenotypes
  • Fanconi Anemia
  • Fanconi anemia, complementation group P, 613951
Tags
Green List (high evidence)
TMPRSS6
0 reviews
 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
  • Iron refractoryirondeficiencyanemia,206200
Tags
Amber List (moderate evidence)
ABCB7
0 reviews
 X-LINKED: hemizygous mutation in males, may be caused by monoallelic mutations in females
Sources
  • Illumina TruGenome Clinical Sequencing Services
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Sideroblastic Anemia and Ataxia
  • Anemia, sideroblastic, with ataxia, 301310
Tags
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 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 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 List (moderate evidence)
ERCC4
0 reviews
 Not set
Sources
  • Radboud University Medical Center, Nijmegen
  • UKGTN
Phenotypes
  • Fanconi anemia, complementation group Q, 615272Xeroderma pigmentosum, type F/Cockayne syndrome, 278760
Tags
Amber List (moderate evidence)
GATA1
0 reviews
 Not set
Sources
  • Eligibility statement prior genetic testing
  • Radboud University Medical Center, Nijmegen
  • UKGTN
Phenotypes
  • Thrombocytopenia,X‐linked,withorwithoutdyserythropoieticanemia,300367Leukemia,megakaryoblastic,withorwithoutDownsyndrome,somatic,190685Thrombocytopeniawithbeta‐thalassemia,X‐linked,314050Anemia,X‐linked,with/withoutneutropeniaand/orplateletabnormalities,300835
  • Congenital Dyserythropoietic Anemia
  • Thrombocytopenia,X linked,withorwithoutdyserythropoieticanemia,300367Leukemia,megakaryoblastic,withorwithoutDownsyndrome,somatic,190685Thrombocytopeniawithbeta thalassemia,X linked,314050Anemia,X linked,with/withoutneutropeniaand/orplateletabnormalities,300835
Tags
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 List (moderate evidence)
RPS17
0 reviews
 Not set
Sources
  • Expert list
  • Radboud University Medical Center, Nijmegen
  • UKGTN
Phenotypes
  • Diamond-Blackfan anemia 4, 612527
  • Diamond Blackfan anemia
Tags
Amber List (moderate evidence)
SLC11A2
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Illumina TruGenome Clinical Sequencing Services
  • UKGTN
Phenotypes
  • Hypochromic Microcytic Anemia with Iron Overload
Tags
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
  • Thiamine responsivemegaloblasticanemiasyndrome,249270
Tags
Amber List (moderate evidence)
TERT
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Illumina TruGenome Clinical Sequencing Services
  • UKGTN
Phenotypes
  • Aplastic Anemia
Tags
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 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 List (low evidence)
AMN
0 reviews
 Not set
Sources
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Megaloblastic anemia-1, Norwegian type, 261100
Tags
Red List (low evidence)
C15orf41
1 review
 Not set
Sources
  • Eligibility statement prior genetic testing
  • Expert Review Red
  • UKGTN
Phenotypes
  • Congenital Dyserythropoietic Anemia
Tags
  • new-gene-name
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 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 List (low evidence)
DKC1
0 reviews
 Not set
Sources
  • UKGTN
Tags
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 List (low evidence)
FANCM
1 review
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Illumina TruGenome Clinical Sequencing Services
  • Radboud University Medical Center, Nijmegen
  • UKGTN
Phenotypes
  • Fanconi Anemia
  • Fanconi anemia, complementation group M, 614087
Tags
Red List (low evidence)
GCLC
0 reviews
 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 List (low evidence)
GLRX5
0 reviews
 Not set
Sources
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Anemia, sideroblastic, pyridoxine-refractory, autosomal recessive, 205950
Tags
Red List (low evidence)
GPI
0 reviews
 Not set
Sources
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Hemolytic anemia, nonspherocytic, due to glucose phosphate isomerase deficiency, 613470
Tags
Red List (low evidence)
GPX1
0 reviews
 Not set
Sources
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Hemolytic anemia due to glutathione peroxidase deficiency, 614164
Tags
Red List (low evidence)
GSS
0 reviews
 Not set
Sources
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Hemolytic anemia due to glutathione synthetase deficiency, 231900Glutathione synthetase deficiency, 266130
Tags
Red List (low evidence)
HBA1
0 reviews
 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
  • 5' zeta pseudozeta pseudoalpha alpha 2 alpha 1 3'Thalassemias,alpha ,604131Methemoglobinemias,alpha Erythremias,alpha Heinzbodyanemias,alpha ,140700HemoglobinHdisease,nondeletional,613978
Tags
Red List (low evidence)
HBA2
0 reviews
 Not set
Sources
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Thalassemia,alpha‐,604131Heinzbodyanemia,140700ErythrocytosisHypochromicmicrocyticanemiaHemoglobinHdisease,nondeletional,613978
  • Thalassemia,alpha ,604131Heinzbodyanemia,140700ErythrocytosisHypochromicmicrocyticanemiaHemoglobinHdisease,nondeletional,613978
Tags
Red List (low evidence)
HBB
0 reviews
 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
  • Sicklecellanemia,603903Thalassemias,beta ,613985Erythremias,beta Methemoglobinemias,beta Heinzbodyanemias,beta ,140700Thalassemia beta,dominantinclusion body,603902Hereditarypersistenceoffetalhemoglobin,141749Delta betathalassemia,141749{Malaria,resistanceto},611162
Tags
Red List (low evidence)
HBD
0 reviews
 Not set
Sources
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Thalassemia,delta‐ ThalassemiaduetoHbLepore
  • Thalassemia,delta ThalassemiaduetoHbLepore
Tags
Red List (low evidence)
HEPH
0 reviews
 Not set
Sources
  • UKGTN
Tags
Red List (low evidence)
HK1
0 reviews
 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 List (low evidence)
IFNG
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Illumina TruGenome Clinical Sequencing Services
Phenotypes
  • Aplastic Anemia
Tags
Red List (low evidence)
KIF23
0 reviews
 Not set
Sources
  • UKGTN
Tags
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 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 List (low evidence)
NHP2
0 reviews
 Not set
Sources
  • UKGTN
Tags
Red List (low evidence)
NOP10
0 reviews
 Not set
Sources
  • UKGTN
Tags
Red List (low evidence)
NT5C3A
0 reviews
 Not set
Sources
  • UKGTN
Tags
Red List (low evidence)
PKLR
0 reviews
 Not set
Sources
  • UKGTN
Tags
Red List (low evidence)
RHAG
0 reviews
 Not set
Sources
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Anemia,hemolytic,Rh‐null,regulatortype,268150Rh‐modsyndrome
  • Anemia,hemolytic,Rh null,regulatortype,268150Rh modsyndrome
Tags
Red List (low evidence)
RPL19
0 reviews
 Not set
Sources
  • UKGTN
Tags
Red List (low evidence)
RPL26
0 reviews
 Not set
Sources
  • Expert list
  • UKGTN
Phenotypes
  • Diamond Blackfan anemia
Tags
Red List (low evidence)
RPL27
0 reviews
 Not set
Sources
  • UKGTN
Tags
Red List (low evidence)
RPL9
0 reviews
 Not set
Sources
  • UKGTN
Tags
Red List (low evidence)
RPS14
0 reviews
 Not set
Sources
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Macrocyticanemia,refractory,dueto5qdeletion,somatic,153550 ‐3
  • Macrocyticanemia,refractory,dueto5qdeletion,somatic,153550 3
Tags
Red List (low evidence)
RPS27
0 reviews
 Not set
Sources
  • UKGTN
Tags
Red List (low evidence)
RPS29
0 reviews
 Not set
Sources
  • Expert list
  • UKGTN
Phenotypes
  • Diamond Blackfan anemia
Tags
Red List (low evidence)
SBDS
0 reviews
 Not set
Sources
  • UKGTN
Tags
Red List (low evidence)
SLC4A1
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Illumina TruGenome Clinical Sequencing Services
Phenotypes
  • Hemolytic Anemia
Tags
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 List (low evidence)
TERC
1 review
 Not set
Sources
  • UKGTN
Tags
  • locus-type-rna-long-non-coding
Red List (low evidence)
TF
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • UKGTN
Tags
Red List (low evidence)
TINF2
0 reviews
 Not set
Sources
  • UKGTN
Tags
Red List (low evidence)
TPI1
0 reviews
 Not set
Sources
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Hemolytic anemia due to triosephosphate isomerase deficiency
Tags

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  • Whole panel
  • Green list (high evidence)
  • Green and Amber Genes
  • Amber Genes
  • Red list (low evidence)

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