Table 2.

List of genes and identified mutations.

Pt	Gene	OMIM nr.	Zygosity	CHR	Change in DNA	Change in protein	Detection modality	Parental occurrence	Class	Biological profile	Functional profile	Diseases associated
1	ABCG8 NM_022437.2	605460	Compound heterozygous	Chr2	c.1083G>A c.1715T>C	p.Trp361* p.Leu572Pro	HPO-terms	No	P LP	ATP-bindingcassette (ABC) transporter	Sterol homeostasis	Sitosterolemia, Gallbladder disease
2			homozygous	Chr2	c.1715T>C	p.Leu572Pro	HPO-terms	-	LP
3	ACTB NM_001101.3	102630	Heterozygous	Chr7	c.1084dup	p.Tyr362Leu fs*2	BMF-filter	-	LP	Cytoplasmic actin	cell motility, contraction, gene transcription, DNA-repair, platelet activation/aggregation	Dystonia, Juvenile-Onset, Baraitser-Winter Syndrome 1
4	FANCC NM_000136.2	613899	Homozygous	Chr9	c.67del	p.Asp23Ile fs*23	BMF-filter	-	P	DNA-repair protein	Interstrand DNA cross-link repair	Fanconi Anemia
5	GNE NM_001128227.2	603824	Compound heterozygous	Chr9	c.173C>T c.491T>C	p.Pro58Leu p.Ile146Thr	Trio-WES	Yes	P LP	Bifunctional UDP-N-acetylglucosamine 2-epimerase/N-acetylmannosamine kinase	Regulates and initiates biosynthesis of N-acetylneuraminic acid (required for normal sialylation in hematopoietic cells)	Nonaka Myopathy, Sialuria
6	HBB NM_000518.4	141900	Heterozygous, de novo	Chr11	c.425T>C	p.Leu142Pro	HPO-terms	-	P	Hemoglobin subunit	Oxygen transport, involved in megakaryocyte development and platelet production	Beta-Thalassemia, Sickle Cell Anemia.
7	MPL NM_005373.2	159530	Compound heterozygous	Chr1	c.378del c.1000T>C	p.Phe126Leufs*5 p.Cys334Arg	BMF-filter	-	P LP	Thrombopoietin receptor	Regulation of megakaryopoiesis and platelet production	Myelofibrosis, Congenital amegakaryocytic thrombocytopenia
8			Homozygous	Chr1	c.23T>G	p.Met8Arg	BMF-filter	-	LP
9	RPL35A NM_000996.2	180468	Heterozygous	Chr3	c.125A>G	p.Tyr42Cys	BMF-filter	-	P	Ribosomal protein	Proliferation and viability of hematopoietic cells	Diamond-Blackfan Anemia
10			Heterozygous	Chr3	c.82_84del	p.Leu28del	BMF-filter	-	P
11	SAMD9 NM_017654.3	610456	Heterozygous, de novo	Chr7	c.773A>C	p.Glu258Ala	BMF-filter	No	LP	Sterile alpha motif domain-containing protein	Regulator of cell proliferation, apoptosis, inflammatory signaling, endosome fusion	Mirage Syndrome, Familial tumoral calcinosis, Monosomy 7 myelodysplasia and leukemia syndrome
12	SRC NM_005417.4	190090	Heterozygous, de novo	Chr20	c.1579G>A	p.Glu527Lys	HPO-terms	No	P	Proto-oncogene tyrosine-protein kinase	Participates in embryonic development, cell growth, gene transcription, immune response, cell adhesion, cell cycle progression, apoptosis, migration, platelet activation/aggregation	Thrombocytopenia, Colorectal cancer
13	TERT NM_198253.2	187270	Compound heterozygous	Chr5	c.2005C>T c.3208G>A	p.Arg669Trp p.Val1070Met	BMF-filter	Yes	P VUS	Telomerase reverse transcriptase	Chromosomal replication	Dyskeratosis Congenita, Pulmonary fibrosis, Acute Myeloid Leukemia, Cutaneous Melanoma
14			Heterozygous, de novo	Chr5	c.1796G>A	p.Arg599Gln	BMF-filter	No	LP

CHR, chromosome; P, pathogenic; LP, likely pathogenic; VUS, variant of unknown significance.