Gene and Disorder list

The gene panel includes all those known to us to be associated with familial bone marrow failure, myelodysplasia and leukaemia. They can be subdivided into different clinical categories. These include Fanconi anaemia, dyskeratosis congenita, Shwachman Diamond syndrome, Diamond-Blackfan anaemia, congenital dyserythropoietic anaemia, severe congenital neutropenia, congenital amegakaryocytic thrombocytopenia, thrombocytopenia with absent radii and familial myelodysplasia-leukaemia.

The panel also includes recently identified genes that are associated with bone marrow failure and other non-specific extra-haematopoietic abnormalities. The field is evolving rapidly, and we will endeavour to update the gene list accordingly.


Gene symbol Diseases
BRCA2 Fanconi anemia, complementation group D1
XRCC2 Fanconi anemia, complementation group U
WRAP53 Dyskeratosis congenita 3
SRP72 Bone marrow failure syndrome 1
SLX4 Fanconi anemia, complementation group P
SEC23B Dyserythropoietic anemia, congenital, type II
SBDS Shwachman-Diamond syndrome; Aplastic anemia, susceptibility to
SAMD9L Ataxia-pancytopenia syndrome
RUNX1 Leukemia, acute myeloid; Platelet disorder, familial, with associated myeloid malignancy
RTEL1 Dyskeratosis congenita 5; Dyskeratosis congenita 4; Pulmonary fibrosis and/or bone marrow failure, telomere-related, 3
RPS7 Diamond-Blackfan anemia 8
TAZ Barth syndrome
TERC Dyskeratosis congenita 1
WAS Wiskott-Aldrich syndrome; Thrombocytopenia, Neutropenia, severe congenital
VPS45 Neutropenia, severe congenital, 5
USB1 Poikiloderma with neutropenia
UBE2T Fanconi anemia, complementation group T
TP53 Colorectal cancer; Li-Fraumeni syndrome; Hepatocellular carcinoma; Osteosarcoma; Choroid plexus papilloma,
TINF2 Dyskeratosis congenita, 3; Revesz syndrome
TERT Pulmonary fibrosis and/or bone marrow failure, telomere-related, 1; Dyskeratosis congenita 2; Dyskeratosis congenita 4, Leukemia, acute myeloid; Melanoma, cutaneous malignant, 9
RPS29 Diamond-Blackfan anemia 13
RPS28 Diamond Blackfan anemia 15 with mandibulofacial dysostosis
RAD51C Fanconi anemia, complementation group O; Breast-ovarian cancer, familial, susceptibility to, 3
PARN Dyskeratosis congenita 6; Pulmonary fibrosis and/or bone marrow failure, telomere-related, 4
PALB2 Fanconi anemia, complementation group N; Breast cancer, susceptibility to); Pancreatic cancer, susceptibility to, 3
NOP10 Dyskeratosis congenita 1
NHP2 Dyskeratosis congenita 2
MPL Thrombocytopenia, congenital amegakaryocytic; Thrombocythemia 2; Myelofibrosis with myeloid metaplasia
RBM8A Thrombocytopenia-absent radius syndrome
RPL11 Diamond-Blackfan anemia 7
RPL15 Diamond-Blackfan anemia 12
RPL26 Diamond-Blackfan anemia 11
RPL35A Diamond-Blackfan anemia 5
RPL5 Diamond-Blackfan anemia 6
RPS10 Diamond-Blackfan anemia 9
RPS17 Diamond-Blackfan anemia 4
RPS19 Diamond-Blackfan anemia 1
RPS24 Diamond-blackfan anemia 3
RPS26 Diamond-Blackfan anemia 10
LIG4 LIG4 syndrome
FANCM Fanconi anemia, complementation group A
FANCL Fanconi anemia, complementation group L
FANCI Fanconi anemia, complementation group I
FANCG Fanconi anemia, complementation group G
FANCF Fanconi anemia, complementation group F
FANCE Fanconi anemia, complementation group E
FANCD2 Fanconi anemia, complementation group D2
FANCC Fanconi anemia, complementation group C
G6PC Glycogen storage disease Ia
G6PC3 Severe congenital neutropenia 4; Dursun Syndrome
KLF1 Hereditary persistence of fetal hemoglobin; Dyserythropoietic anemia, congenital, type IV
KIF23 Dyserythropoietic anemia
JAGN1 Neutropenia, severe congenital 6
HAX1 Neutropenia, severe congenital 3
GRHL2 Deafness 28; Ectodermal dysplasia/short stature syndrome
GFI1 Severe congetial neutropenia 2; Nonimmune chronic idiopathic neutropenia of adults
GATA2 Immunodeficiency 21; Emberger syndrome
GATA1 X-linked Thrombocytopenia, with or without dyserythropoietic anemia; Thrombocytopenia with beta-thalassemia; Anemia, X-linked, with/without neutropenia and/or platelet abnormalities
FANCB Fanconi anemia, complementation group B
FANCA Fanconi anemia, complementation group A
DKC1 Dyskeratosis congenita, X-linked
DNAJC21 Bone marrow failure syndrome 3
DNAJC3 Ataxia, combined cerebellar and peripheral, with hearing loss and diabetes mellitus
ELANE Cyclic Neutropenia, Neutropenia, severe congenital
ERCC4 Xeroderma pigmentosum, group F/Cockayne syndrome; Fanconi anemia, complementation group Q
ERCC6L2 Bone marrow failure syndrome 2
ETV6 Leukemia, acute myeloid, somatic; Thrombocytopenia 5
DDX41 Familial myeloproliferative/lymphoproliferative neoplasms
CXCR4 WHIM syndrome; isolated Myelokathexis
CTC1 Cerebroretinal microangiopathy with calcifications and cysts
ACD Dyskeratosis congenita 6 and 7
ANKRD26 Thrombocytopenia 2
BRCA1 Familial Breast-ovarian cancer 1; Susceptibility to Pancreatic cancer 4
BRIP1 Early onset breast cancer; Fanconi anemia, complementation group J
C15orf41 Dyserythropoietic anemia, congenital, type Ib
CDAN1 Dyserythropoietic anemia, congenital, type Ia
CEBPA Acute myeloid leukaemia
CSF3R Neutrophilia, hereditary