Bone Marrow Failure (Version 2.0)

Description

Bone marrow failure (BMF) refers to the decreased production of one or more major haematopoietic lineages which leads to diminished or absent haematopoietic precursors in the bone marrow and attendant cytopaenias.

This panel was developed and is maintained by VCGS. It contains all the genes on the Peter MacCallum Bone Marrow Failure panel, as of 2/3/2020, and includes all the genes associated with telomere disorders (Dysterkeratosis Congenita).

It has been updated with the July 2024 International Union of Immunological Societies Inborn Errors of Immunity Committee classifications.

Panel Activity

20 reviewers

Kristin Rigbye (Victorian Clinical Genetics Services)
Sue White (Victorian Clinical Genetics Services)
Paul De Fazio (Victorian Clinical Genetics Services)
Manny Jacobs (Victorian Clinical Genetics Services)
Pasquale Barbaro (University of Sydney)
Raja Vasireddy (Children's Hospital at Westmead)
Ain Roesley (Victorian Clinical Genetics Services)
Sangavi Sivagnanasundram (Melbourne Health)
Lilian Downie (Victorian Clinical Genetics Services)
Daniel Flanagan (Victorian Clinical Genetics Services)
Bryony Thompson (Royal Melbourne Hospital)
Chern Lim (Victorian Clinical Genetics Services)
Lucy Spencer (Victorian Clinical Genetics Services)
Elena Savva (Victorian Clinical Genetics Services)
Santosh Varughese (University of Melbourne)
Hamish Scott (SA Pathology)
Krithika Murali (Pathology Queensland)
Sarah Milton (Victorian Clinical Genetics Services)
Zornitza Stark (Victorian Clinical Genetics Services)
chirag patel (Genetic Health Queensland)

152 Entities

152 reviewed, 116 green

List	Entity	Reviews	Mode of inheritance	Details
Filter Entities 152 Entitiess
Green Green List (high evidence)	ABCB7	2 reviews 2 green	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Green Victorian Clinical Genetics Services Disease associations Anemia, sideroblastic, with ataxia, MIM# 301310 Tags
Green Green List (high evidence)	ACD	3 reviews 2 green 1 red	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Disease associations telomere syndrome MONDO:0100137 dyskeratosis congenita, autosomal dominant 6 MONDO:0014690 Hoyeraal-Hreidarsson syndrome MONDO:0018045 Tags
Green Green List (high evidence)	ACTB	2 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert list Expert Review Green Disease associations Thrombocytopenia 8, with dysmorphic features and developmental delay, MIM# 620475 Tags
Green Green List (high evidence)	ADA2	2 reviews 2 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Disease associations Vasculitis, autoinflammation, immunodeficiency, and haematologic defects syndrome, MIM# 615688 Tags founder
Green Green List (high evidence)	ADH5	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Disease associations AMED syndrome, digenic, MIM# 619151 Aplastic anaemia myelodysplasia short stature Tags
Green Green List (high evidence)	AK2	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Disease associations Reticular dysgenesis, MIM# 267500 MONDO:0009973 Tags treatable
Green Green List (high evidence)	ALAS2	2 reviews 2 green	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Green Victorian Clinical Genetics Services Disease associations Anemia, sideroblastic, 1, MIM# 300751 Tags
Green Green List (high evidence)	ANKRD26	2 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Victorian Clinical Genetics Services Disease associations Thrombocytopaenia 2, MIM# 188000 Tags 5'UTR
Green Green List (high evidence)	BRCA1	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Disease associations Fanconi anemia, complementation group S, MIM# 617883 Tags
Green Green List (high evidence)	BRCA2	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Disease associations Fanconi anaemia, complementation group D1, MIM# 605724 Tags
Green Green List (high evidence)	BRIP1	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Disease associations Fanconi anaemia, complementation group J, MIM# 609054 Tags treatable
Green Green List (high evidence)	CDAN1	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Disease associations Dyserythropoietic anemia, congenital, type Ia, 224120 Tags
Green Green List (high evidence)	CDIN1	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Disease associations Dyserythropoietic anemia, congenital, type Ib, MIM# 615631 Tags
Green Green List (high evidence)	CLPB	2 reviews 2 green	BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal	Sources Expert list Expert Review Green Disease associations 3-methylglutaconic aciduria, type VII, with cataracts, neurologic involvement and neutropaenia, MIM# 616271 3-methylglutaconic aciduria, type VIIB, autosomal recessive, MIM# 616271 congenital neutropenia, 3-methylglutaconic aciduria, cataracts, severe psychomotor regression during febrile episodes, epilepsy Tags
Green Green List (high evidence)	CSF3R	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Disease associations Neutropaenia, severe congenital, 7, autosomal recessive, MIM# 617014 Tags
Green Green List (high evidence)	CTC1	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Disease associations Cerebroretinal microangiopathy with calcifications and cysts, MIM# 612199 Tags
Green Green List (high evidence)	DCLRE1B	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Disease associations Dyskeratosis congenita, autosomal recessive 8, MIM# 620133 Tags
Green Green List (high evidence)	DDX41	2 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert list Expert Review Green Disease associations {Myeloproliferative/lymphoproliferative neoplasms, familial (multiple types), susceptibility to} MIM# 616871 Tags
Green Green List (high evidence)	DKC1	2 reviews 2 green	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Green Victorian Clinical Genetics Services Disease associations Dyskeratosis congenita, X-linked 305000 Hoyeraal-Hreidarsson Syndrome Tags
Green Green List (high evidence)	DNAJC21	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Disease associations Bone marrow failure syndrome 3, MIM# 617052 Tags
Green Green List (high evidence)	DNASE2	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Disease associations Autoinflammatory-pancytopenia syndrome, MIM#619858 Tags
Green Green List (high evidence)	DUT	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Disease associations Bone marrow failure and diabetes mellitus syndrome (MIM#620044) Tags
Green Green List (high evidence)	EFL1	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Disease associations Shwachman-Diamond syndrome 2, MIM# 617941 Tags
Green Green List (high evidence)	ELANE	2 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Victorian Clinical Genetics Services Disease associations Neutropaenia, severe congenital 1, autosomal dominant, MIM# 202700 Tags
Green Green List (high evidence)	ERCC4	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Disease associations Fanconi anemia, complementation group Q, MIM# 615272 Tags
Green Green List (high evidence)	ERCC6L2	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Disease associations Bone marrow failure syndrome 2, MIM# 615715 Tags
Green Green List (high evidence)	ERG	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Disease associations Myelodysplasia syndrome, MONDO:0018881, ERG-related Tags
Green Green List (high evidence)	ETV6	2 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert list Expert Review Green Disease associations Thrombocytopenia 5, MIM# 616216 Tags
Green Green List (high evidence)	FAAP100	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Disease associations Fanconi anemia, complementation group X, MIM# 621258 Tags
Green Green List (high evidence)	FANCA	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Disease associations Fanconi anaemia, complementation group A, MIM# 227650 MONDO:0009215 Tags
Green Green List (high evidence)	FANCB	2 reviews 2 green	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Green Victorian Clinical Genetics Services Disease associations Fanconi anaemia, complementation group B, MIM# 300514 Tags
Green Green List (high evidence)	FANCC	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Disease associations Fanconi anemia, complementation group C, MIM# 227645 MONDO:0009213 Tags
Green Green List (high evidence)	FANCD2	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Disease associations Fanconi anaemia, complementation group D2, MIM# 227646 MONDO:0009214 Tags
Green Green List (high evidence)	FANCE	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Disease associations Fanconi anaemia, complementation group E, MIM# 600901 MONDO:0010953 Tags
Green Green List (high evidence)	FANCF	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Disease associations Fanconi anaemia, complementation group F 603467 MONDO:0011325 Tags
Green Green List (high evidence)	FANCG	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Disease associations Fanconi anaemia, complementation group G, MIM# 614082 MONDO:0013565 Tags
Green Green List (high evidence)	FANCI	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Disease associations Fanconi anemia, complementation group I, MIM# 609053 MONDO:0012186 Tags
Green Green List (high evidence)	FANCL	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Disease associations Fanconi anemia, complementation group L, MIM# 614083 MONDO:0013566 Tags
Green Green List (high evidence)	G6PC3	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Disease associations Neutropaenia, severe congenital 4, autosomal recessive, MIM# 612541 MONDO:0012930 Dursun syndrome, MIM# 612541 Tags
Green Green List (high evidence)	GALE	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Expert Review Green Disease associations Thrombocytopenia 12, syndromic, MIM#620776 Tags
Green Green List (high evidence)	GATA1	2 reviews 2 green	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert list Expert Review Green Victorian Clinical Genetics Services Disease associations Thrombocytopaenia, X-linked, with or without dyserythropoietic anaemia, MIM# 300367 Tags
Green Green List (high evidence)	GATA2	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Victorian Clinical Genetics Services Disease associations GATA2 deficiency with susceptibility to MDS/AML MONDO:0042982 Tags treatable
Green Green List (high evidence)	GFI1	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Victorian Clinical Genetics Services Disease associations Neutropaenia, severe congenital 2, autosomal dominant, MIM# 613107 Tags treatable
Green Green List (high evidence)	GIMAP5	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Disease associations Portal hypertension, noncirrhotic, 2, MIM# 619463 Tags
Green Green List (high evidence)	GLRX5	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Disease associations Anaemia, sideroblastic, 3, pyridoxine-refractory, MIM# 616860 Tags
Green Green List (high evidence)	HAX1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Disease associations Neutropaenia, severe congenital 3, autosomal recessive, MIM# 610738 Kostmann syndrome MONDO:0012548 Tags
Green Green List (high evidence)	HEATR3	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Disease associations Diamond-Blackfan anaemia 21, MIM# 620072 Tags
Green Green List (high evidence)	Chromosome 15q25 deletion syndrome ISCA-37500-Loss Region	2 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert list Expert Review Green Disease associations Chromosome 15q25 deletion syndrome MIM#614294 intellectual disability congenital abnormalities haematological abnormalities Tags
Green Green List (high evidence)	JAGN1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Disease associations Neutropenia, severe congenital, 6, autosomal recessive, MIM# 616022 Tags
Green Green List (high evidence)	KLF1	1 review 1 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Disease associations Dyserythropoietic anaemia, congenital, type IVa, MIM# 613673 MONDO:0013355 Anaemia, congenital dyserythropoietic, type IVb, MIM#620969 Tags
Green Green List (high evidence)	LCP1	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Disease associations Combined immunodeficiency, MONDO:0015131, LCP1-related Tags
Green Green List (high evidence)	LIG4	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Disease associations LIG4 syndrome, MIM# 606593 DNA ligase IV deficiency, MONDO:0011686 Tags treatable
Green Green List (high evidence)	MBD4	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Expert Review Green Literature Disease associations Tumor predisposition syndrome 2 - MIM#619975 Adenomatous colorectal polyposis, myelodysplastic syndrome, acute myeloid leukemia, and uveal melanoma Tags
Green Green List (high evidence)	MDM4	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Other Disease associations bone marrow failure syndrome 6, MONDO:0030015 Tags
Green Green List (high evidence)	MECOM	3 reviews 3 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Expert Review Green Disease associations Radioulnar synostosis with amegakaryocytic thrombocytopenia 2, MIM#616738 Bone marrow failure without radioulnar synostosis (RUS) Tags
Green Green List (high evidence)	MPIG6B	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Disease associations Thrombocytopenia, anemia, and myelofibrosis, MIM# 617441 Tags
Green Green List (high evidence)	MPL	1 review 1 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Disease associations Myelofibrosis with myeloid metaplasia, somatic, MIM#254450 Thrombocythemia 2, MIM#601977, AD, SMu Thrombocytopenia, congenital amegakaryocytic, MIM#604498, AR Tags
Green Green List (high evidence)	MYH9	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Victorian Clinical Genetics Services Disease associations Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss, MIM# 155100 Tags
Green Green List (high evidence)	MYSM1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Disease associations Bone marrow failure syndrome 4, MIM#618116 Tags treatable
Green Green List (high evidence)	NAF1	2 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Disease associations Pulmonary fibrosis and/or bone marrow failure syndrome, telomere-related, 7, MIM# 620365 Tags
Green Green List (high evidence)	NBEAL2	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Victorian Clinical Genetics Services Disease associations Gray platelet syndrome, MIM# 139090 Tags
Green Green List (high evidence)	NBN	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Disease associations Nijmegen breakage syndrome, MIM#251260 Aplastic anemia, MIM#609135 Leukemia, acute lymphoblastic, MIM#613065 Tags
Green Green List (high evidence)	NHP2	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Disease associations Dyskeratosis congenita, autosomal recessive 2, MIM# 613987 Tags
Green Green List (high evidence)	NPM1	2 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green Literature Disease associations radial ray defects short stature nail dsytrophy bone marrow failure Tags
Green Green List (high evidence)	OSM	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Disease associations bone marrow failure syndrome MONDO:0000159 Tags
Green Green List (high evidence)	PALB2	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Disease associations Fanconi anaemia, complementation group N, MIM# 610832 Tags
Green Green List (high evidence)	PARN	1 review 1 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Disease associations Dyskeratosis congenita, autosomal recessive 6, MIM# 616353 Pulmonary fibrosis and/or bone marrow failure, telomere-related, 4, MIM# 616371 Tags
Green Green List (high evidence)	POLA2	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Disease associations Telomere biology syndrome MONDO:0100137 Tags
Green Green List (high evidence)	POT1	2 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert list Expert Review Green Disease associations Telomere syndrome, MONDO:0100137, POT1-related Tags
Green Green List (high evidence)	PSTPIP1	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Victorian Clinical Genetics Services Disease associations Pyogenic sterile arthritis, pyoderma gangrenosum, and acne, MIM# 604416 Autoinflammatory syndrome with cytopenia, hyperzincemia, and hypercalprotectinemia, MIMM# 601979 Tags
Green Green List (high evidence)	PUS1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Disease associations Myopathy, lactic acidosis, and sideroblastic anemia 1, MIM# 600462 Tags
Green Green List (high evidence)	RBM8A	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Disease associations Thrombocytopenia-absent radius syndrome, MIM# 274000 Tags SV/CNV
Green Green List (high evidence)	RMRP	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Disease associations Cartilage-hair hypoplasia, MIM# 250250 Tags non-coding gene
Green Green List (high evidence)	RPA1	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Disease associations Pulmonary fibrosis and/or bone marrow failure, telomere-related, 6, MIM# 619767 Bone marrow failure T- and B-cell lymphopaenia pulmonary fibrosis skin manifestations short telomeres Tags
Green Green List (high evidence)	RPL11	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Victorian Clinical Genetics Services Disease associations Diamond-Blackfan anemia 7, MIM# 612562 MONDO:0012938 Tags
Green Green List (high evidence)	RPL15	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert list Expert Review Green Disease associations Diamond-Blackfan anemia 12, MIM# 615550 Tags
Green Green List (high evidence)	RPL17	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Disease associations Diamond-Blackfan anaemia 22, MIM# 621262 Tags
Green Green List (high evidence)	RPL26	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert list Expert Review Green Disease associations Diamond-Blackfan anemia 11, MIM# 614900 Tags
Green Green List (high evidence)	RPL35A	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Victorian Clinical Genetics Services Disease associations Diamond-Blackfan anemia 5, MIM# 612528 MONDO:0012925 Tags SV/CNV
Green Green List (high evidence)	RPL5	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Victorian Clinical Genetics Services Disease associations Diamond-Blackfan anaemia 6, MIM# 612561 MONDO:0012937 Tags
Green Green List (high evidence)	RPS10	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Victorian Clinical Genetics Services Disease associations Diamond-Blackfan anaemia 9, MIM# 613308 Tags
Green Green List (high evidence)	RPS17	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert list Expert Review Green Disease associations Diamond-Blackfan anaemia 4, MIM# 612527 MONDO:0012924 Tags
Green Green List (high evidence)	RPS19	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Victorian Clinical Genetics Services Disease associations Diamond-Blackfan anemia 1, MIM# 105650 MONDO:0007110 Tags
Green Green List (high evidence)	RPS24	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Victorian Clinical Genetics Services Disease associations Diamond-blackfan anemia 3, MIM# 610629 MONDO:0012529 Tags
Green Green List (high evidence)	RPS26	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Victorian Clinical Genetics Services Disease associations Diamond-Blackfan anemia 10, MIM# 613309 MONDO:0013217 Tags
Green Green List (high evidence)	RPS28	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert list Expert Review Green Disease associations Diamond Blackfan anaemia 15 with mandibulofacial dysostosis, MIM# 606164 Tags
Green Green List (high evidence)	RPS7	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Victorian Clinical Genetics Services Disease associations Diamond-Blackfan anemia 8, MIM# 612563 MONDO:0012939 Tags
Green Green List (high evidence)	RTEL1	1 review 1 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Disease associations Dyskeratosis congenita, MIM# 615190 Pulmonary fibrosis and/or bone marrow failure, telomere-related, 3, MIM# 616373 Tags
Green Green List (high evidence)	RUNX1	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Victorian Clinical Genetics Services Disease associations Platelet disorder, familial, with associated myeloid malignancy, MIM# 601399 Tags
Green Green List (high evidence)	SAMD9	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert list Expert Review Green Disease associations MIRAGE syndrome, MIM#617053 Tags
Green Green List (high evidence)	SAMD9L	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert list Expert Review Green Disease associations Ataxia-pancytopenia syndrome, MIM# 159550 Tags
Green Green List (high evidence)	SBDS	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Disease associations Shwachman-Diamond syndrome, MIM# 260400 Tags
Green Green List (high evidence)	SEC23B	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Disease associations Dyserythropoietic anemia, congenital, type II , MIM#224100 Tags
Green Green List (high evidence)	SH2B3	1 review 1 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Literature Disease associations Predisposition to haematological malignancies Myeloproliferation and multi-organ autoimmunity juvenile myelomonocytic leukemia MONDO:0011908, SH2B3-related Tags
Green Green List (high evidence)	SLC19A2	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Disease associations Thiamine-responsive megaloblastic anemia syndrome, MIM# 249270 Tags
Green Green List (high evidence)	SLC25A38	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Disease associations Anemia, sideroblastic, 2, pyridoxine-refractory, MIM# 205950 Tags
Green Green List (high evidence)	SLC37A4	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Victorian Clinical Genetics Services Disease associations Glycogen storage disease Ib, MIM# 232220 Tags
Green Green List (high evidence)	SLX4	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Disease associations Fanconi anemia, complementation group P, MIM# 613951 Tags
Green Green List (high evidence)	SMARCAL1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Disease associations Schimke immunoosseous dysplasia, MIM# 242900 Tags
Green Green List (high evidence)	SRP54	2 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Victorian Clinical Genetics Services Disease associations Syndromic neutropenia with Shwachman-Diamond-like features Tags
Green Green List (high evidence)	STN1	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Disease associations Cerebroretinal microangiopathy with calcification and cysts 2, MIM#617341 Tags
Green Green List (high evidence)	TAFAZZIN	1 review 1 green	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Green Victorian Clinical Genetics Services Disease associations Barth syndrome, MIM# 302060 Tags
Green Green List (high evidence)	TBXAS1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Disease associations Ghosal hematodiaphyseal syndrome, MIM#231095 Tags
Green Green List (high evidence)	TCN2	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Disease associations Transcobalamin II deficiency, MIM#275350 Tags
Green Green List (high evidence)	TERC	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Victorian Clinical Genetics Services Disease associations Dyskeratosis congenita, autosomal dominant 1, MIM# 127550 Pulmonary fibrosis and/or bone marrow failure syndrome, telomere-related, 2, MIM# 614743 Tags non-coding gene
Green Green List (high evidence)	TERT	1 review 1 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Disease associations Dyskeratosis congenita, MIM# 613989 Pulmonary fibrosis and/or bone marrow failure, telomere-related, 1, MIM# 614742 Tags
Green Green List (high evidence)	THPO	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Expert Review Green Disease associations Amegakaryocytic thrombocytopenia, congenital, 2, MIM# 620481 Tags
Green Green List (high evidence)	TINF2	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Victorian Clinical Genetics Services Disease associations Dyskeratosis congenita, autosomal dominant 3, MIM# 613990 Revesz syndrome, MIM# 268130 Tags
Green Green List (high evidence)	TLR8	1 review 1 green	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Green Literature Disease associations Immunodeficiency 98 with autoinflammation, X-linked, MIM# 301078 Tags somatic
Green Green List (high evidence)	UBE2T	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Disease associations Fanconi anemia, complementation group T, MIM# 616435 Tags SV/CNV
Green Green List (high evidence)	USB1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Disease associations Poikiloderma with neutropaenia, MIM# 604173 MONDO:0011405 Tags
Green Green List (high evidence)	VPS45	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Disease associations Neutropenia, severe congenital, 5, autosomal recessive, MIM#615285 Tags treatable
Green Green List (high evidence)	WAS	1 review 1 green	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert list Expert Review Green Victorian Clinical Genetics Services Disease associations Wiskott-Aldrich syndrome, MIM# 301000 Thrombocytopenia, X-linked, MIM# 313900 Tags
Green Green List (high evidence)	WIPF1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Disease associations Wiskott-Aldrich syndrome 2, MIM# 614493 Tags
Green Green List (high evidence)	WRAP53	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Disease associations Dyskeratosis congenita, autosomal recessive 3, MIM# 613988 Tags
Green Green List (high evidence)	ZCCHC8	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Disease associations Pulmonary fibrosis and/or bone marrow failure, telomere-related MONDO:0000148 Tags
Amber Amber List (moderate evidence)	CXCR4	1 review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Amber Victorian Clinical Genetics Services Disease associations WHIM syndrome, MIM# 193670 Tags
Amber Amber List (moderate evidence)	FLT3LG	3 reviews 2 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Disease associations Immunodeficiency 125, MIM# 620926 Tags
Amber Amber List (moderate evidence)	HOXA11	1 review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Amber Victorian Clinical Genetics Services Disease associations Radioulnar synostosis with amegakaryocytic thrombocytopenia 1, MIM# 605432 Tags
Amber Amber List (moderate evidence)	KIF23	1 review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert list Expert Review Amber Disease associations Anaemia, congenital dyserythropoietic, type IIIA 105600 Tags
Amber Amber List (moderate evidence)	MASTL	1 review	Unknown	Sources Expert Review Amber Victorian Clinical Genetics Services Tags
Amber Amber List (moderate evidence)	NOP10	2 reviews	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Amber Victorian Clinical Genetics Services Disease associations Dyskeratosis congenita, autosomal recessive 1, MIM#224230 Pulmonary fibrosis and/or bone marrow failure syndrome, telomere-related, 9, MIM# 620400 Tags
Amber Amber List (moderate evidence)	PTPN13	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Disease associations bone marrow failure syndrome MONDO#0000159, PTPN13-related Tags
Amber Amber List (moderate evidence)	RAD51C	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Victorian Clinical Genetics Services Disease associations Fanconi anemia, complementation group O, MIM# 613390 Tags
Amber Amber List (moderate evidence)	RAP1B	2 reviews	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert list Expert Review Amber Disease associations Thrombocytopenia 1 with multiple congenital anomalies and dysmorphic facies, MIM# 620654 Tags
Amber Amber List (moderate evidence)	RFWD3	2 reviews 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Amber Disease associations Fanconi anemia, complementation group W, MIM# 617784 Tags
Amber Amber List (moderate evidence)	RPL18	2 reviews	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert list Expert Review Amber Disease associations Diamond-Blackfan anemia 18, MIM# 618310 Tags
Amber Amber List (moderate evidence)	RPL27	1 review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Amber Victorian Clinical Genetics Services Disease associations Diamond-Blackfan anaemia 16, MIM# 617408 Tags
Amber Amber List (moderate evidence)	RPL31	1 review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert list Expert Review Amber Disease associations Diamond Blackfan anaemia Tags
Amber Amber List (moderate evidence)	RPL8	1 review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Amber Literature Disease associations Diamond-Blackfan anemia MONDO:0015253 Tags
Amber Amber List (moderate evidence)	RPL9	1 review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert list Expert Review Amber Disease associations Diamond Blackfan anaemia Tags
Amber Amber List (moderate evidence)	RPS20	2 reviews	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Amber Literature Disease associations Diamond Blackfan anaemia Tags
Amber Amber List (moderate evidence)	RPS29	1 review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Amber Victorian Clinical Genetics Services Disease associations Diamond-Blackfan anemia 13, MIM# 615909 Tags
Amber Amber List (moderate evidence)	SRP19	2 reviews 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Disease associations Neutropenia, MONDO:0001475, SRP19-related Tags
Amber Amber List (moderate evidence)	SRP72	1 review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Amber Victorian Clinical Genetics Services Disease associations Bone marrow failure syndrome 1, MIM# 614675 Tags disputed
Amber Amber List (moderate evidence)	SRPRA	2 reviews 1 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Amber Literature Disease associations Schwachman-Diamond syndrome MONDO:0009833, SRPA-related Tags
Amber Amber List (moderate evidence)	THRA	1 review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Expert Review Amber Disease associations Hypothyroidism, congenital, nongoitrous, 6, MIM# 614450 Tags
Amber Amber List (moderate evidence)	TP53	1 review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert list Expert Review Amber Disease associations Bone marrow failure syndrome 5, MIM# 618165 Tags
Amber Amber List (moderate evidence)	TYMS	2 reviews 1 red	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Amber Literature Disease associations Dyskeratosis congenita, digenic, MIM#620040 Tags digenic
Amber Amber List (moderate evidence)	XRCC2	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Victorian Clinical Genetics Services Disease associations Fanconi anemia, complementation group U, MIM# 617247 Tags
Red Red List (low evidence)	FANCM	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Victorian Clinical Genetics Services Disease associations Fanconi anaemia Tags refuted
Red Red List (low evidence)	FECH	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Victorian Clinical Genetics Services Disease associations Protoporphyria, erythropoietic, 1, MIM# 177000 Tags
Red Red List (low evidence)	MAD2L2	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Red Disease associations Fanconi anemia, complementation group V, MIM# 617243 Tags
Red Red List (low evidence)	POLE	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Literature Disease associations MONDO:0002254 syndromic disease Tags
Red Red List (low evidence)	RAD51	1 review 1 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert list Expert Review Red Disease associations Fanconi anemia complementation group R MONDO:0014986 Tags
Red Red List (low evidence)	RBSN	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Literature Disease associations Myelofibrosis, congenital, with anemia, neutropenia, developmental delay, and ocular abnormalities, MIM# 620939 Tags
Red Red List (low evidence)	RPA2	1 review 1 red	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Red Literature Disease associations Telomere syndrome, MONDO:0100137, RPA2-related Tags
Red Red List (low evidence)	RPL35	1 review 1 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert list Expert Review Red Disease associations Diamond-Blackfan anemia 19, MIM# 618312 Tags
Red Red List (low evidence)	RPS15A	1 review 1 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert list Expert Review Red Disease associations Diamond-Blackfan anemia 20, MIM# 618313 Tags
Red Red List (low evidence)	RPS27	1 review 1 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Red Victorian Clinical Genetics Services Disease associations Diamond-Blackfan anemia 17, MIM# 617409 Tags
Red Red List (low evidence)	SLC30A7	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Expert Review Red Disease associations Ziegler-Huang syndrome, MIM# 620501 Tags
Red Red List (low evidence)	TSR2	1 review 1 red	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Red Victorian Clinical Genetics Services Disease associations Diamond-Blackfan anemia 14 with mandibulofacial dysostosis, MIM# 300946 Tags

Bone Marrow Failure (Version 2.0)

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