Table 2.

Identification of causative genetic variants in 6 patients with inherited cytopenias other than anaemias using targeted NGS‐based panel sequencing

Patient	Type	Age (years)	Sex	Key clinical features	Key haematological features	Gene	Mutation	Type of mutation	Inheri‐tance	Final Diagnosis	Clinical relevance	Additional information
12	Thrombo‐cytopenia	8·8	F	None	Mild thrombocytopenia	RUNX1	NM_001754.4:c.493G>C p.G165R	Het, novel	AD	RUNX1‐associated thrombocytopenia	Diagnostic, impacts management	Family history inconspicuous
13	Thrombo‐cytopenia	0·9	M	Bruising	Severe macrocytic thrombocytopenia (giant platelets)	MYH9	NM_002473.4:c.287C>T p.S96L	Het	AD	MYH9‐related disorder	Diagnostic, impacts management	No hearing or renal pathologies yet
14	Leucopenia	17·8	F	Recurrent fever and aphthous lesions	Moderate neutropenia and B cell deficiency	GATA2	NM_032638.4:c.121C>G p.P41A	Het	AD	GATA2 deficiency	Diagnostic, impacts management	One episode of severe pancytopenia
15	Bicytopenia	13	M	Growth retardation, facial defects, cardiac defects	Severe hyporegenerative macrocytic anaemia, moderate leucopenia	RPL5	NM_000969.3:c.527 + 2dupT p.?	Het, novel	AD	Diamond‐Blackfan anaemia	Confirmatory	Steroid responder, but currently steroid pause (puberty); regular transfusions
16	Pancytopenia	8·3	F	Broad nasal base and epicanthic folds, cardiac defect	Moderate thrombocytopenia, mild leucopenia and mild macrocytic anaemia	FANCA	Deletion of Exons 6–31	Hom, novel	AR	Fanconi Anaemia	Confirmatory, impacts management	Twin sister has same variant and clinical presentation
17	Pancytopenia	21·4	M	Microcephaly, growth retardation, skeletal anomalies	Mild pancytopenia, mild T‐lymphopenia and severe B‐lymphopenia; MDS	NHEJ1	NM_024782.2:c.236T>C p.L79P	Hom, novel	AR	Combined immunodeficiency with MDS	Diagnostic, impacts management	MDS; initially monosomy 7, replaced by del(20)

AD, autosomal dominant; ANK1, ankyrin 1; AR, autosomal recessive; BM, bone marrow; CDA1, congenital dyserythro‐poietic anaemia type I; CDAN1, codanin 1; CHA, chronic haemolytic anaemia; Com, compound heterozygous; Con, consanguineous; EMA, eosin‐5′‐maleimide: F, female, FANCA, Fanconi anaemia complementation group A; GATA2, GATA binding protein 2; HbF, haemoglobin F; Het, heterozygous; Hom, homozygous; M, male, MDS, myelodysplastic syndrome; MYH9, myosin heavy chain 9; NGS, next generation sequencing; NHEJ1, non‐homologous end joining factor 1; PIEZO1, piezo type mechanosensitive ion channel component 1; PK, pyruvate kinase; PKLR, pyruvate kinase, liver and RBC; RPL5, ribosomal protein L5; RPS29, ribosomal protein S29; RUNX1, runt related transcription factor 1; SPTB, spectrin beta, erythrocytic; UGT1A1, UDP glucuronosyltransferase family 1 member A1.