A-T	Ataxia Teleangiectasia
ALL	Acute lymphoblastic leukaemia
AML	Acute myeloid leukaemia
BMF	Bone marrow failure
BS	Bloom’s syndrome
CBC	Complete blood count
CBL-syndrome	Casitas B-lineage lymphoma
CHH	Cartilage hair hypoplasia
CMMRD	Constitutional Mismatch Repair Immunodeficiency
CNS	Central nervous system
CPS	Cancer Predisposition Syndrome
CT8M	Constitutional trisomy 8 mosaicism
DBA	Diamond Blackfan anaemia
DC	Dyskeratosis Congenita
DLBCL	Diffuse large B-cell lymphoma
DNA	Deoxyribonucleic acid
DS	Down syndrome
ENT	Ear, Nose and Throat
FA	Fanconi Anaemia
FISH	Fluorescence in-situ hybridization
HL	Hodgkin lymphoma
HNPCC	Hereditary non-polyposis colorectal carcinoma
HSCT	Haematopoietic stem cell transplantation
hTP53rc	Heritable TP53-related cancer syndrome
IBMFS	Inherited bone marrow failure syndrome
ICL	Interstrand crosslink
JMML	Juvenile myelomonocytic leukaemia
KS	Klinefelter syndrome
LFS	Li-Fraumeni syndrome
LIMC	Low- and middle-income country
MDS	Myelodysplastic syndrome
miRNA	Micro-RNA
ML-DS	Myeloid leukaemia of Down syndrome
MPD	Myeloproliferative disorder
MPN	Myeloproliferative neoplasm
MPNST	Malignant peripheral nerve sheath tumour
MSI	Microsatellite instability
NBS	Nijmegen Breakage syndrome
NER	Nucleotide excision repair
NF1	Neurofibromatosis type 1
NGS	Next-generation sequencing
NHL	Non-Hodgkin lymphoma
NK	Natural killer (cell)
NS	Noonan syndrome
OS	Overall survival
P/LP	Pathogenic/Likely pathogenic
PDE	Potentially druggable event
PID	Primary immunodeficiency disease
RNA	Ribonucleic acid
SCE	Sister chromatid exchange
SDS	Schwachman Diamond syndrome
TAM	Transient abnormal myelopoiesis
UDP	Uniparental disomy
VUS	Variant of unknown significance
WAS	Wiskott–Aldrich syndrome
WBMRI	Whole-body magnetic resonance imaging
WES	Whole exome sequencing
WGS	Whole genome sequencing
WHO	World Health Organization
WSP	World Standard Population
XP	Xeroderma Pigmentosum