Bone Marrow Failure (Version 1.93)

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 2019 International Union of Immunological Societies Committee classification, Tangye et al. (PMID: 31953710)

Panel Activity

17 reviewers

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

143 Entities

143 reviewed, 107 green

List	Entity	Reviews	Mode of inheritance	Details
Filter Entities 143 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 Phenotypes 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 Phenotypes 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 Phenotypes Thrombocytopenia 8, with dysmorphic features and developmental delay, MIM# 620475 Tags
Green Green List (high evidence)	ADA2	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes 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 Phenotypes 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 Phenotypes 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 Phenotypes 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 Phenotypes 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 Phenotypes 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 Phenotypes 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 Phenotypes Fanconi anaemia, complementation group J, MIM# 609054 Tags treatable
Green Green List (high evidence)	C15orf41	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Phenotypes Dyserythropoietic anemia, congenital, type Ib, MIM# 615631 Tags
Green Green List (high evidence)	CDAN1	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Dyserythropoietic anemia, congenital, type Ia, 224120 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 Phenotypes 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 Phenotypes 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 Phenotypes 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 Phenotypes 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 Phenotypes {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 Phenotypes 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 Phenotypes 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 Phenotypes 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 Phenotypes 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 Phenotypes 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 Phenotypes 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 Phenotypes 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 Phenotypes 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 Phenotypes 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 Phenotypes Thrombocytopenia 5, MIM# 616216 Tags
Green Green List (high evidence)	FANCA	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes 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 Phenotypes 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 Phenotypes 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 Phenotypes 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 Phenotypes 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 Phenotypes 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 Phenotypes 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 Phenotypes 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 Phenotypes 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 Phenotypes 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 Phenotypes 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 Phenotypes 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 Phenotypes Immunodeficiency 21, MIM# 614172 GATA2 deficiency with susceptibility to MDS/AML MONDO:0042982 Emberger syndrome, MIM# 614038 Deafness-lymphoedema-leukaemia syndrome MONDO:0013540 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 Phenotypes 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 Phenotypes 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 Phenotypes 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 Phenotypes 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 Phenotypes Diamond-Blackfan anaemia 21, MIM# 620072 Tags
Green Green List (high evidence)	JAGN1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Phenotypes Neutropenia, severe congenital, 6, autosomal recessive, MIM# 616022 Tags
Green Green List (high evidence)	KLF1	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Dyserythropoietic anaemia, congenital, type IV, MIM# 613673 MONDO:0013355 Tags
Green Green List (high evidence)	LIG4	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes 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 Phenotypes Tumor predisposition syndrome 2 - MIM#619975 Adenomatous colorectal polyposis, myelodysplastic syndrome, acute myeloid leukemia, and uveal melanoma Tags
Green Green List (high evidence)	MECOM	3 reviews 3 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Expert Review Green Phenotypes 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 Phenotypes 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 Phenotypes 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 Phenotypes 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 Phenotypes 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 Phenotypes 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 Phenotypes 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 Phenotypes 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 Phenotypes 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 Phenotypes radial ray defects short stature nail dsytrophy bone marrow failure Tags
Green Green List (high evidence)	PALB2	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes 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 Phenotypes 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)	POT1	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert list Expert Review Green Phenotypes Hereditary neoplastic syndrome, MONDO:0015356, 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 Phenotypes Pyogenic sterile arthritis, pyoderma gangrenosum, and acne, MIM# 604416 Tags
Green Green List (high evidence)	PUS1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Myopathy, lactic acidosis, and sideroblastic anemia 1, MIM# 600462 Tags
Green Green List (high evidence)	RAD51C	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Fanconi anemia, complementation group O, MIM# 613390 Tags
Green Green List (high evidence)	RBM8A	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes 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 Phenotypes Cartilage-hair hypoplasia, MIM# 250250 Tags
Green Green List (high evidence)	RPA1	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Phenotypes 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 Phenotypes 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 Phenotypes Diamond-Blackfan anemia 12, MIM# 615550 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 Phenotypes 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 Phenotypes 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 Phenotypes 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 Phenotypes 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 Phenotypes 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 Phenotypes 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 Phenotypes Diamond-Blackfan anemia 10, MIM# 613309 MONDO:0013217 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 Phenotypes 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 Phenotypes 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 Phenotypes 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 Phenotypes 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 Phenotypes 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 Phenotypes 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 Phenotypes 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 Phenotypes Predisposition to haematological malignancies Myeloproliferation and multi-organ autoimmunity juvenile myelomonocytic leukemia MONDO:001190, 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 Phenotypes 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 Phenotypes 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 Phenotypes 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 Phenotypes 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 Phenotypes 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 Phenotypes 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 Phenotypes Cerebroretinal microangiopathy with calcification and cysts 2, MIM#617341 Tags
Green Green List (high evidence)	TAZ	1 review 1 green	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes 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 Phenotypes 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 Phenotypes 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 Phenotypes Dyskeratosis congenita, autosomal dominant 1, MIM# 127550 Tags
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 Phenotypes 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 Phenotypes 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 Phenotypes 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 Phenotypes 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 Phenotypes 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 Phenotypes 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 Phenotypes 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 Phenotypes 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 Phenotypes 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 Phenotypes Dyskeratosis congenita, autosomal recessive 3, MIM# 613988 Tags
Amber Amber List (moderate evidence)	CXCR4	1 review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Amber Victorian Clinical Genetics Services Phenotypes WHIM syndrome, MIM# 193670 Tags
Amber Amber List (moderate evidence)	HOXA11	1 review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Amber Victorian Clinical Genetics Services Phenotypes 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 Phenotypes Anaemia, congenital dyserythropoietic, type IIIA 105600 Tags
Amber Amber List (moderate evidence)	LCP1	1 review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Amber Literature Phenotypes Bone marrow failure syndrome, MONDO:0000159, LCP1-related Tags
Amber Amber List (moderate evidence)	MASTL	1 review	Unknown	Sources Expert Review Amber Victorian Clinical Genetics Services Tags
Amber Amber List (moderate evidence)	MDM4	1 review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Amber Other Phenotypes bone marrow failure syndrome MONDO:0000159, MDM4-related Tags
Amber Amber List (moderate evidence)	NOP10	2 reviews	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Amber Victorian Clinical Genetics Services Phenotypes 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 Phenotypes bone marrow failure syndrome MONDO#0000159, PTPN13-related Tags
Amber Amber List (moderate evidence)	RAP1B	1 review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert list Expert Review Amber Phenotypes Thrombocytopenia 1 with multiple congenital anomalies and dysmorphic facies, MIM# 620654 Tags
Amber Amber List (moderate evidence)	RPL18	1 review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert list Expert Review Amber Phenotypes Diamond-Blackfan anemia 18, MIM# 618310 Tags
Amber Amber List (moderate evidence)	RPL31	1 review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert list Expert Review Amber Phenotypes Diamond Blackfan anaemia Tags
Amber Amber List (moderate evidence)	RPL8	1 review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Amber Literature Phenotypes 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 Phenotypes Diamond Blackfan anaemia Tags
Amber Amber List (moderate evidence)	RPS20	2 reviews	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Amber Literature Phenotypes Diamond Blackfan anaemia Tags
Amber Amber List (moderate evidence)	RPS28	1 review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert list Expert Review Amber Phenotypes Diamond Blackfan anemia 15 with mandibulofacial dysostosis, MIM# 606164 Tags
Amber Amber List (moderate evidence)	RPS29	1 review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Amber Victorian Clinical Genetics Services Phenotypes 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 Phenotypes 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 Phenotypes 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 Phenotypes Schwachman-Diamond syndrome MONDO:0009833, SRPA-related Tags
Amber Amber List (moderate evidence)	TP53	1 review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert list Expert Review Amber Phenotypes 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 Phenotypes 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 Phenotypes Fanconi anemia, complementation group U, MIM# 617247 Tags
Amber Amber List (moderate evidence)	ZCCHC8	1 review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Amber Literature Phenotypes Pulmonary fibrosis and/or bone marrow failure, telomere-related MONDO:0000148 Tags
Red Red List (low evidence)	FANCM	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Victorian Clinical Genetics Services Phenotypes 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 Phenotypes Protoporphyria, erythropoietic, 1, MIM# 177000 Tags
Red Red List (low evidence)	FLT3LG	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Literature Phenotypes Increased susceptibility to infections Tags
Red Red List (low evidence)	MAD2L2	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Red Phenotypes 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 Phenotypes MONDO:0002254 syndromic disease Tags
Red Red List (low evidence)	RFWD3	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Red Phenotypes Fanconi anemia, complementation group W, MIM# 617784 Tags
Red Red List (low evidence)	RPL26	1 review 1 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert list Expert Review Red Phenotypes Diamond-Blackfan anemia 11, MIM# 614900 Tags
Red Red List (low evidence)	RPL27	1 review 1 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Red Victorian Clinical Genetics Services Phenotypes Diamond-Blackfan anemia 16, MIM# 617408 Tags
Red Red List (low evidence)	RPL35	1 review 1 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert list Expert Review Red Phenotypes 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 Phenotypes 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 Phenotypes 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 Phenotypes 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 Phenotypes Diamond-Blackfan anemia 14 with mandibulofacial dysostosis, MIM# 300946 Tags

Major version comments

2021-06-19 02:37 Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics) promoted panel to 1.0
Fully reviewed and promoted to V1.

Bone Marrow Failure (Version 1.93)

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