Bone Marrow Failure Syndrome 1; Bmfs1

Clinical Features

Phenotypes and symptoms related to Bone Marrow Failure Syndrome 1; Bmfs1

  • Hearing impairment
  • Anemia
  • Pancytopenia
  • Bone marrow hypocellularity
  • Myelodysplasia
  • Aplastic anemia

Incidence and onset information

Not enough data available about incidence and published cases.


Mendelian

Accelerate your rare disease diagnosis with us

Learn more

Bone Marrow Failure Syndrome 1; Bmfs1 Recommended genes panels

Panel Name, Specifity and genes Tested/covered
Bone Marrow Failure.

By Knight Diagnostic Laboratories - Molecular Diagnostic Center Oregon Health & Science University in United States.

BRCA2, RPL35A, FANCC, RPS19, TINF2, NBN, PALB2, BRIP1, SBDS, PRF1, RAD51C, MPL, GATA1, RPS26, RPS10, RPL11, RPL5, RPS24, FANCB, DKC1 , (...)

View the complete list with 23 more genes
Specificity
3 %
Genes
100 %
Bone Marrow Failure Syndromes Panel by next-generation sequencing (NGS).

By Cincinnati Children's Hospital Medical Center Laboratory of Genetics and Genomics Cincinnati Children's Hospital Medical Center in United States.

BRCA2, SLC37A4, RPL35A, HAX1, AP3B1, TAZ, FANCC, RMRP, RPS19, TINF2, PALB2, BRIP1, GATA2, SBDS, RAD51C, MPL, RTEL1, WAS, VPS13B, GATA1 , (...)

View the complete list with 39 more genes
Specificity
2 %
Genes
100 %
Bone Marrow Failure Syndromes Deletion/Duplication Panel.

By Cincinnati Children's Hospital Medical Center Laboratory of Genetics and Genomics Cincinnati Children's Hospital Medical Center in United States.

BRCA2, SLC37A4, RPL35A, HAX1, AP3B1, TAZ, FANCC, RMRP, RPS19, TINF2, PALB2, BRIP1, GATA2, RAD51C, MPL, RTEL1, WAS, VPS13B, GATA1, RPS26 , (...)

View the complete list with 35 more genes
Specificity
2 %
Genes
100 %
SRP72 Sequencing.

By Cincinnati Children's Hospital Medical Center Laboratory of Genetics and Genomics Cincinnati Children's Hospital Medical Center in United States.

SRP72
Specificity
100 %
Genes
100 %
SRP72 Deletion/Duplication Analysis.

By Cincinnati Children's Hospital Medical Center Laboratory of Genetics and Genomics Cincinnati Children's Hospital Medical Center in United States.

SRP72
Specificity
100 %
Genes
100 %
Inherited Bone Marrow Failure Sequencing Panel.

By Genetic Services Laboratory University of Chicago in United States.

BRCA2, RUNX1, ALAS2, RPL35A, HAX1, FANCC, RPS19, TINF2, PALB2, BRIP1, GATA2, SBDS, RAD51C, MPL, RTEL1, WAS, SBF2, GATA1, RPS26, RPS10 , (...)

View the complete list with 41 more genes
Specificity
2 %
Genes
100 %
Comprehensive Hereditary Cancer Panel.

By Genetic Services Laboratory University of Chicago in United States.

BRCA1, BRCA2, VHL, APC, EPCAM, MSH2, PMS2, MSH6, MLH1, MUTYH, PTEN, RUNX1, TP53, SDHAF2, RET, SDHC, FH, SDHB, ANKRD26, TMEM127 , (...)

View the complete list with 34 more genes
Specificity
2 %
Genes
100 %
Hereditary Leukemia and Breast Cancer Panel.

By Genetic Services Laboratory University of Chicago in United States.

BRCA1, BRCA2, MSH2, PMS2, MSH6, MLH1, PTEN, RUNX1, TP53, ANKRD26, BLM, PTPN11, CBL, ATM, NBN, PALB2, CDH1, CHEK2, GATA2, PAX5 , (...)

View the complete list with 11 more genes
Specificity
4 %
Genes
100 %
Tier 1: Familial Myelodysplastic Syndrome/Acute Leukemia (MDS/AL).

By Genetic Services Laboratory University of Chicago in United States.

RUNX1, TP53, ANKRD26, GATA2, PAX5, CEBPA, RTEL1, TERC, TERT, SRP72, IKZF1, ETV6, SAMD9, SAMD9L, DDX41
Specificity
7 %
Genes
100 %
Hereditary Myeloid Malignancy and Inherited Bone Marrow Failure Panel.

By Genetic Services Laboratory University of Chicago in United States.

BRCA1, BRCA2, MSH2, PMS2, MSH6, MLH1, RUNX1, TP53, ALAS2, RPL35A, HAX1, ANKRD26, FANCC, BLM, PTPN11, RPS19, TINF2, CBL, ATM, NBN , (...)

View the complete list with 59 more genes
Specificity
2 %
Genes
100 %
Bone marrow failure syndrome 1 (sequence analysis of SRP72 gene).

By CGC Genetics in Portugal.

SRP72
Specificity
100 %
Genes
100 %
Hereditary Myelodysplastic Syndrome (MDS) /Acute Myeloid Leukemia (AML) Sequencing Panel with CNV Detection.

By PreventionGenetics PreventionGenetics in United States.

RUNX1, TP53, ANKRD26, GATA2, CEBPA, TERC, TERT, SRP72, ETV6, SAMD9L, DDX41
Specificity
10 %
Genes
100 %
Aplastic Anemia and Myelodysplastic Syndrome via the SRP72 Gene.

By PreventionGenetics PreventionGenetics in United States.

SRP72
Specificity
100 %
Genes
100 %
Bone marrow failure.

By Centogene AG - the Rare Disease Company in Germany.

SRP72
Specificity
100 %
Genes
100 %
Bone marrow failure syndromes Panel.

By CeGaT GmbH in Germany.

BRCA2, FANCC, TINF2, MRE11, NBN, PALB2, BRIP1, SBDS, PRF1, RAD51C, RTEL1, WAS, FANCB, DKC1, LYST, TERC, TERT, CSF2RA, CTC1, WRAP53 , (...)

View the complete list with 17 more genes
Specificity
3 %
Genes
100 %
SRP72.

By Fulgent Genetics Fulgent Genetics in United States.

SRP72
Specificity
100 %
Genes
100 %
Primary Immunodeficiency Panel.

By Blueprint Genetics in Finland.

PMS2, RECQL4, STAT1, SLC37A4, CASP8, CLCN7, HAX1, AP3B1, UNG, TAP1, TCN2, AK2, SLC35C1, CYBA, STAT3, ADA, MOGS, IL2RG, PNP, AIRE , (...)

View the complete list with 255 more genes
Specificity
1 %
Genes
100 %
Hereditary Leukemia Panel.

By Blueprint Genetics in Finland.

BRCA1, BRCA2, EPCAM, MSH2, PMS2, MSH6, MLH1, RUNX1, TP53, ANKRD26, BLM, BRAF, HRAS, KRAS, MAP2K1, NRAS, PTPN11, SOS1, TINF2, RIT1 , (...)

View the complete list with 19 more genes
Specificity
3 %
Genes
100 %
Comprehensive Hereditary Cancer Panel.

By Blueprint Genetics in Finland.

BRCA1, BRCA2, VHL, APC, EPCAM, MSH2, PMS2, MSH6, MLH1, MUTYH, PTEN, RECQL4, RUNX1, TP53, HNF1A, WT1, SDHAF2, RET, SDHC, RAF1 , (...)

View the complete list with 126 more genes
Specificity
1 %
Genes
100 %
Comprehensive Hematology Panel.

By Blueprint Genetics in Finland.

BRCA1, BRCA2, F2, F5, HFE, EPCAM, MSH2, PMS2, MSH6, MLH1, RECQL4, RUNX1, TP53, YARS2, PC, HBB, TYRP1, OCA2, AMN, SLC45A2 , (...)

View the complete list with 219 more genes
Specificity
1 %
Genes
100 %
Bone Marrow Failure Syndrome Panel.

By Blueprint Genetics in Finland.

BRCA1, BRCA2, EPCAM, MSH2, PMS2, MSH6, MLH1, RECQL4, RUNX1, TP53, SLC37A4, DTNBP1, HPS1, BLOC1S3, HPS6, HPS5, HPS4, HPS3, RPL35A, HAX1 , (...)

View the complete list with 102 more genes
Specificity
1 %
Genes
100 %
Congenital Neutropenia Panel.

By Blueprint Genetics in Finland.

SLC37A4, HAX1, GATA2, SBDS, WAS, VPS13B, ACTB, CTSC, LYST, CSF2RA, SRP72, CSF3R, IFNGR2, ELANE, G6PC3, VPS45, GFI1, LAMTOR2, RAC2, JAGN1 , (...)

View the complete list with 6 more genes
Specificity
4 %
Genes
100 %
Inherited Bone Marrow Failure Panel.

By NeoGenomics Laboratories NeoGenomics Laboratories, Inc. in United States.

BRCA2, RUNX1, RPL35A, HAX1, FANCC, RPS19, TINF2, PALB2, BRIP1, GATA2, SBDS, CEBPA, RAD51C, MPL, RTEL1, WAS, GATA1, RPS26, RPS10, RPL11 , (...)

View the complete list with 38 more genes
Specificity
2 %
Genes
100 %
Bone Marrow Failure Related Disorders , Panel Massive Sequencing (NGS) 59 Genes.

By Reference Laboratory Genetics in Spain.

BRCA2, SLC37A4, RPL35A, HAX1, AP3B1, TAZ, FANCC, RMRP, RPS19, TINF2, PALB2, BRIP1, GATA2, SBDS, RAD51C, MPL, WAS, VPS13B, GATA1, RPS26 , (...)

View the complete list with 38 more genes
Specificity
2 %
Genes
100 %

Alternate names

Bone Marrow Failure Syndrome 1; Bmfs1 Is also known as ;autosomal dominant aplastic anemia and myelodysplasia.



If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like WAARDENBURG SYNDROME, TYPE 2D; WS2D LYMPHEDEMA-DISTICHIASIS SYNDROME DYSTONIA 11, MYOCLONIC; DYT11 SPINOCEREBELLAR ATAXIA 17; SCA17 SCHIMMELPENNING-FEUERSTEIN-MIMS SYNDROME; SFM

Need help with a diagnosis?

Learn more about how to achieve it with Mendelian


Learn more