Gene list version 1 – May 2019
Genes included in the next-generation sequencing panel for inherited cytopenias.
Disease Gene Notes Inheritance
Dyskeratosis congenita
Dyskeratosis congenita TERT AD, AR
Dyskeratosis congenita TERC AD
Dyskeratosis congenita TINF2 AD
Dyskeratosis congenita RTEL1 AD, AR
Dyskeratosis congenita DKC1 XLR
Dyskeratosis congenita NOP10 NOLA3 AR
Dyskeratosis congenita NHP2 NOLA2 AR
Dyskeratosis congenita WRAP53 AR
Dyskeratosis congenita CTC1 AR
Dyskeratosis congenita PARN AR
Dyskeratosis congenita ACD AD, AR
Fanconi anemia
Fanconi anemia / Familial breast FANCA AR cancer
Fanconi anemia FANCB Deletions "common" in FANC genes XLR?
Fanconi anemia FANCC Does not cover 21q22.11-q22.13 monosomy AR
Fanconi anemia AR/ AD inheritance BRCA2 FANCD1 AR for Wilms tumor, breast cancer, medulloblastoma, prostate cancer
Fanconi anemia FANCD2 AR
Fanconi anemia FANCE AR
Fanconi anemia FANCF AR
Fanconi anemia FANCG XRCC9 AR
Fanconi anemia FANCI AR
Fanconi anemia / AD Familial BRIP1 FANCJ AR breast cancer
Fanconi anemia FANCL AR
Fanconi anemia FANCM FANCM mutations in combination with FANCA? AR Gene list version 1 – May 2019
Fanconi anemia / AD Familial breast PALB2 FANCN AR cancer
Fanconi anemia / Familial breast RAD51C FANCO AR cancer
Fanconi anemia / Familial breast SLX4 FANCP AR cancer, rare
Fanconi anemia / Xeroderma ERCC4 FANCQ / XPF AR pigmentosum, group F
Fanconi anemia XRCC2 FANCR AR
Fanconi anemia, complementation UBE2T AR group T
Fanconi anemia BRCA1 AR
DCML/MonoMAC/ familial GATA2 AD AA/MDS/AML/CMML
IRF8 deficiency IRF8 AD, AR
HYOU1 deficiency (SCN+DC HYOU1 chr11: 118922614 C>G, p.A419P and AR deficiency) chr11:118924936 A>G, p.Y231H
DADA2 / Polyarteritis CECR1 AR nodosa/Sneddon syndrome
Bone marrow failure
ERCC6L2 deficiency / Bone marrow ERCC6L2 AR failure syndrome
Congenital Bone Marrow Failure SRP72 AD BMF/AA/MDS and deafness
Shwachman syndrome, AR / SBDS AR, AD Aplastic anemia, susceptibility to, AD
Thrombocytopenia
Wiskott-Aldrich syndrome / WAS XLR Thrombocytopenia / Neutropenia, severe congenital
Thrombocytopenia 4 CYCS AD
Anemia / Leukemia, GATA1 XLR megakaryoblastic, with or without Down syndrome, somatic / Thrombocytopenia with beta- thalassemia / Thrombocytopenia, Gene list version 1 – May 2019
X-linked, with or without dyserythropoietic anemia
Amegakaryocytic TP with radio- HOXA11 AD ulnar synostosis
Thrombocytopenia 2 ANKRD26 reduced platelet alpha granules AD
Bleeding disorder, platelet-type, 16 ITGB3 AD, AR / Glanzmann thrombasthenia /Thrombocytopenia, neonatal alloimmune /Purpura, posttransfusion
Familial AA / Thrombocytopenia, MPL AD, Smu, AR congenital amegakaryocytic
Familial platelet disorder /AML RUNX1 AD (FPD/AML)
Bleeding disorder, platelet-type, 17 GFI1B almost absent platelet alpha granules AD
Thrombocythemia 1 THPO AD
Thrombocytopenia with absent RBM8A Thrombocytopenias with normal-sized platelets AR radii / Does not cover 1q21.1del
Thrombocytopenia, fair complexion SBF2 c.659C>G (p.Thr220Arg) in the SBF2 (also known AR as MTMR13)
Bernard-Soulier / von Willebrand GP1BA Thrombocytopenias with large/giant platelets / AD, AR disease, platelet-type Platelet-type vWD possible
Bernard-Soulier syndrome, type B / GP1BB giGeorge/VC phenotype possible AR Giant platelet disorder, isolated
Bernard-Soulier syndrome, type C GP9 AR
Paris-Trousseau FLI1 usually 11q23ter, giant platelet alpha granules / AD hemizygous loss of FLI1
Grey platelet sdr NBEAL2 no alpha granules AR
Macrothrombocytopenia and MYH9 AD progressive sensorineural deafness / Epstein syndrome /Fechtner syndrome / May-Hegglin anomaly /Sebastian syndrome
Bleeding disorder, platelet-type, 16 ITGA2B AD, AR / Glanzmann thrombasthenia /Thrombocytopenia, neonatal alloimmune, BAK antigen related
TP with sitosterolenemia ABCG5 AR Gene list version 1 – May 2019
Sitosterolemia ABCG8 AR
Bleeding disorder, platelet-type, 15 ACTN1 AD
Filaminopathies etc. FLNA large alpha granules XLD, XLR
Macrothrombocytopenia, TUBB1 AD
Bleeding disorder, platelet-type, 19 PRKACG AR
Quebec platelet disorder PLAU TP in some, bleeding AD
Thrombocytopaenia, small-platelet FYB Thrombocytopenias with small platelets AR
AML
AML CEBPA AD
Thrombocytopenia 5 / AML, ETV6 AD somatic
Bloom syndrome BLM RECQL3 AR
STK4 deficiency / T-cell STK4 MST1 AR immunodeficiency, recurrent infections, autoimmunity, and cardiac malformations
Reticular dysgenesis AK2 AR
Cartilage-hair hypoplasia RMRP AR
Neutropenia
Severe congenital/ cyclic ELANE AD neutropenia
Poikiloderma with neutropenia USB1 C16ORF57 AR
Severe congenital neutropenia GFI1 AD
Neutropenia, severe congenital 3 HAX1 AR
severe congenital neutropenia VPS45 AR (SCN)+ myelofibrosis
Dursun syndrome / Neutropenia, G6PC3 AR severe congenital
Neutropenia, severe congenital JAGN1 AR
Barth syndrome TAZ neutropenia XLR
Neutrophilia, hereditary CSF3R AD
Cohen syndrome VPS13B COH1 AR Gene list version 1 – May 2019
WHIM syndrome CXCR4 AD
Intrinsic factor deficiency GIF AR
Transcobalamin II deficiency TCN2 AR
Diamond-Blackfan anemia
Diamond-Blackfan anemia RPS19 AD
Diamond-Blackfan anemia RPS26 possibly with mandibulofacial dysostosis AD
Diamond-Blackfan anemia RPL5 AD
Diamond-Blackfan anemia RPL11 AD
Diamond-Blackfan anemia RPS24 AD
Diamond-Blackfan anemia RPS17 AD
Diamond-Blackfan anemia TSR2 with mandibulofacial dysostosis XLR
Diamond-Blackfan anemia RPS7 AD
Diamond-Blackfan anemia RPL35A AD
Diamond-Blackfan anemia RPS10 AD
Diamond-Blackfan anemia RPS28 with mandibulofacial dysostosis AD
Diamond-Blackfan anemia RPS29 AD
Diamond-Blackfan anemia RPL15 AD
Dyserythropoietic anemia
Dyserythropoietic anemia, SEC23B CDAN2 AR congenital, type II
Dyserythropoietic anemia, CDAN1 CDAN1a AR congenital, type Ia
Dyserythropoietic anemia, C15orf41 CDAN1B AR congenital, type Ib
Dyserythropoietic anemia, KLF1 AD congenital, type IV
Majeed syndrome LPIN2 multifocal osteomyelitis and congenital AR dyserythropoietic anemia
Exocrine pancreatic insufficiency, COX4I2 AR dyserythropoietic anemia, and calvarial hyperostosis
Sideroblastic anemias Gene list version 1 – May 2019
Congenital sideroblastic anemias ALAS2 Does not cover mitochondrial PMPS/CSA XLR (CSA) / Protoporphyria, erythropoietic XLD
Myopathy, lactic acidosis, and YARS2 AR sideroblastic anemia 2
Mitochondrial myopathy and PUS1 AR sideroblastic anemia 1
Anemia, sideroblastic, pyridoxine- GLRX5 AR refractory
Anemia, sideroblastic, pyridoxine- SLC25A38 AR refractory
Sideroblastic anemia with B-cell TRNT1 AR immunodeficiency, periodic fevers, and developmental delay
Anemia, sideroblastic, with ataxia ABCB7 XLR
Thiamine-responsive megaloblastic SLC19A2 AR anemia syndrome
Congenital sideroblastic anemias HSPA9 http://m.bloodjournal.org/content/126/25/2734 AD, AR (CSA) new gene
Hemolytic anemia
Hemolytic anemia due to G6PD G6PD XLR? deficiency
Pyruvate kinase deficiency / PKLR AR hemolytic anemia
Cryohydrocytosis etc. SLC4A1 AD
Hemolytic anemia, nonspherocytic, GPI AR due to glucose phosphate isomerase deficiency
Phosphoglycerate kinase 1 PGK1 XLR deficiency
Anemia, hemolytic, due to UMPH1 NT5C3A AR deficiency
Hemolytic anemia due to adenylate AK1 AR kinase deficiency
Hemolytic anemia due to HK1 AR hexokinase deficiency / neuropathy Gene list version 1 – May 2019
Hemolytic anemia due to TPI1 AR triosephosphate isomerase deficiency
Hemolytic anemia due to GSS AR glutathione synthetase deficiency
Hereditary nonspherocytic ADA GOF suspected Smo, AR hemolytic anemias
Hemolytic anemia due to PFKL AR? phosphofructokinase deficiency
Hemolytic anemia due to GSR AR? glutathione reductase deficiency
Glycogen storage disease
Metabolic myopathy / haemolysis / ALDOA hemolytic anemia AR Glycogen storage disease XII
Glycogen storage disease Ib SLC37A4 hypoglycemia, hyperlactic acidemia, colitis AR
Glycogen storage disease VII PFKM AR
Other platelet alpha-granule deficiencies
Arthrogryposis, renal dysfunction, VPS33B AR and cholestasis 1
Specific granule deficiency CEBPE with specific granule deficiency AR
Storage diseases with severe hematological phenotype
Gaucher disease GBA AR
Gaucher disease, atypical / PSAP Gaucher AR Combined SAP deficiency / Krabbe disease, atypical / Metachromatic leukodystrophy due to SAP-b deficiency
Cholesteryl ester storage disease / LIPA Wolman/familial HLH; CESD AR Wolman disease
Other disorders with splenomegaly w/o PIDD
Hereditary hemorrhagic ENG AD telangiectasia
Telangiectasia, hereditary ACVRL1 AD hemorrhagic, type 2 Gene list version 1 – May 2019
Juvenile polyposis/hereditary SMAD4 MADH4/ also juvenile polyposis AD hemorrhagic telangiectasia syndrome / Myhre syndrome / Polyposis, juvenile intestinal
Thalassemias
Thalassemias etc. HBA2 alpha, deletions common AD
Thalassemias etc. HBA1 alpha, deletions common AD
Thalassemias etc. HBB beta, deletions common AD
Spherocytosis
Hereditary spherocytoses ANK1 AD
Spherocytosis, type 2 SPTB AD
Spherocytosis, type 3 SPTA1 AR
Spherocytosis, type 5 EPB42 AR
Hemochromatosis
Hemochromatosis HFE AR, AD
Hemochromatosis, type 2A HFE2 AR
Hemochromatosis, type 2B HAMP AR
Hemochromatosis, type 3 TFR2 AR
Hemochromatosis, type 4 SLC40A1 AD
Cystic fibrosis CFTR AR
Familial Mediterranean fever MEFV AD, AR
Wilson disease ATP7B AR
Niemann-Pick types A-D SMPD1 type A & B AR
Niemann-Pick types A-D NPC1 type C1 & D AR
Niemann-Pick types A-D NPC2 type C2 AR
Mucoplysaccharidoses
Mucoplysaccharidoses IDUA AR
Mucopolysaccharidosis II IDS XLR
Mucopolysaccharidisis type IIIA SGSH AR (Sanfilippo A)
Mucopolysaccharidosis type IIIB NAGLU AR (Sanfilippo B) Gene list version 1 – May 2019
Mucopolysaccharidosis type IIIC HGSNAT AR (Sanfilippo C)
Mucopolysaccharidosis type IIID GNS AR
Mucopolysaccharidosis IVA GALNS AR
GM1-gangliosidosis / GLB1 AR Mucopolysaccharidosis type IVB (Morquio)
Mucopolysaccharidosis type VI ARSB AR (Maroteaux-Lamy)
Mucopolysaccharidosis VII GUSB AR
Mucopolysaccharidosis type IX HYAL1 AR
Tangier disease ABCA1 AR
Lecithin-cholesterol acyltransferase LCAT severe proteinuria AR deficiency
Leukemia, acute myelomonocytic MLLT11 somatic?
Leukemia, juvenile myelomonocytic ARHGAP26 somatic?
Leukemia, juvenile myelomonocytic PTPN11 AD, somatic
Leukemia, juvenile myelomonocytic NF1 neurofibromatosis AD
Leukemia, juvenile myelomonocytic CBL AD, AR
Leukemia, juvenile myelomonocytic KRAS AD / Leukemia, acute myeloid / RAS- associated autoimmune leukoproliferative disorder
Leukemia, juvenile myelomonocytic NRAS AD / RAS-associated autoimmune lymphoproliferative syndrome type IV
Methylmalonic acidemia CD320 AR
Methylmalonic acidemia MMAB AR
Methylmalonic acidemia MUT AR
Methylmalonic acidemia MMAA AR
Methylmalonic acidemia MMADHC AR
Methylmalonic acidemia LMBRD1 AR
Methylmalonic acidemia ABCD4 AR Gene list version 1 – May 2019
Chédiak-Higashi syndrome LYST partial albinism, neurological impairment, AR bleeding diasthesis, immunodeficiency, hemophagocytic lymphohistiocytosis
Hernansky-Pudlak syndrome AP3B1 oculocutaneous albinism, microcephaly, AR thrombocytopenia, bleeding tendency, abnormal hair
Griscelli syndrome RAB27A hypomelanosis, immunde deficiency, AR neurological impairment, hemophagocytic lymphohistiocytosis
Autoimmune lymphoproliferative CTLA4 AD syndrome, type V
Thrombocytopenia MASTL one family AD
Diamond-Blackfan anemia 11 RPL26 AD
Overhydrated hereditary RHAG hemolytic anemia AD stomatocytosis
Dehydrated hereditary PIEZO1 hemolytic anemia AD stomatocytosis with or without pseudohyperkalemia and/or perinatal edema
Dehydrated hereditary KCNN4 hemolytic anemia AD stomatocytosis 2
Thrombotic thrombocytopenic ADAMTS13 hemolytic anemia AR purpura
GLUT1 deficiency syndrome 2, SLC2A1 hemolytic anemia AD childhood onset
Hemolytic anemia due to gamma- GCLC hemolytic anemia AR glutamylcysteine synthetase deficiency
Hemolytic anemia, CD59-mediate CD59 hemolytic anemia AR
Glycogen storage disease Ia G6PC AR
Glycogen storage disease III AGL AR
Autoimmune lymphoproliferative FASLG AD syndrome,
Autoimmune lymphoproliferative SH2D1A XLR syndrome,
Autoimmune lymphoproliferative CASP10 AD syndrome, Gene list version 1 – May 2019
Autoimmune lymphoproliferative PRKCD AR syndrome,
Autoimmune disease STAT3 AD
References
Sulonen AM et al. Comparison of solution-based exome capture methods for next generation sequencing. Genome Biol. 2011 Sep 28;12(9):R94.
Stenson PD et al. The Human Gene Mutation Database: building a comprehensive mutation repository for clinical and molecular genetics, diagnostic testing and personalized genomic medicine. Hum Genet (2014) 133:1-9.