St. Jude Research

DNAJC21 Database

The DNAJC21 Database is a curated repository of germline DNAJC21 variants identified in patients through published literature and case referrals. Our goal is to provide a comprehensive knowledge base for understanding DNAJC21 syndromes.

If you are interested in contributing variants, please contact wlodarskilab@stjude.org.

DNAJC21 transcript version is NM_001012339.2. Curated by Maria Munoz Martinez, MD. Last updated: 05/19/2026.

Patient ID DNAJC21 mutation (cDNA) DNAJC21 mutation (Protein) Type of mutation Zygosity Mutation origin gnomAD (v4.1.0) population frequency Year of reporting PMID Patient also reported in (PMID) Original patient ID Disease Gender (M/F) Age at first presentation Consanguinity Hematologic abnormalities Bone marrow at diagnosis Cytogenetics Skin or dental abnormalities Pancreatic insufficiency Eye abnormalities Musculoskeletal abnormalities Microcephaly or facial dysmorphism IUGR or short stature Neurological symptoms Infections Malignancy Short telomeres Co-occurring somatic mutations HSCT Outcome
P001 c.517C>T p. Arg173* nonsense Homozygous Presumed germline 0.002% 2016 27346687 29700810 Subject/individual/case 1 global bone marrow failure with pancytopenia F 3 Yes Pancytopenia NA 47-51,XX,+X,+8,+13,+21,+22 NA NA NA NA Yes Yes NA NA   No NA NA NA
P002 c.983+1G>T p.? (r.Gly299Alafs*2) splicing Homozygous Germline Absent 2016 27346687 29700810 Subject/individual/case 2 global bone marrow failure with pancytopenia F 6 Yes Pancytopenia NA NA Yes NA Yes Yes Yes Yes Yes No   No NA No Alive at 14.5 years
P003 c.94C>G p. Pro32Ala missense Homozygous Presumed germline Absent 2016 27346687 29700810 Subject/individual/case 3 global bone marrow failure with pancytopenia M 12 Yes Pancytopenia NA NA Yes NA NA NA No Yes NA NA AML-M7 No NA Yes (MSD) Died post-HSCT (TRM)
P004 c.793G>T p. Glu265* nonsense Homozygous Germline 0.0002% 2016 27346687 29700810 Subject/individual/case 4 global bone marrow failure with pancytopenia F 6 No Pancytopenia NA NA NA NA NA NA No Yes NA NA   No NA NA NA
P005 c.520C>T p. Gln174* nonsense Homozygous Germline novel 2017 28062395 29700810 Patient 1 pancytopenia/failure to thrive/pancreatic insufficiency F 2.5 Yes Pancytopenia Hypocellular, no dysplasia Normal Yes Yes Yes Yes Yes Yes Yes Yes   No NA No Alive at 14 years old
P006 c.100A>G  p.Lys34Glu missense Homozygous Germline Absent 2017 28062395 29700810 Patient 2 progressive bone marrow failure M 0 Yes Pancytopenia Hypocellular, no dysplasia Normal NA Yes No Yes NA No NA Yes   NA NA No Died at 18 months 
P007 c.100A>G  p.Lys34Glu missense Homozygous Germline Absent 2017 28062395 29700810 Patient 3 pancytopenia and severe anemia M 0 Yes Pancytopenia Hypocellular 46,XY, der(15)t(1;15)(q12;p11) NA Yes No Yes NA Yes Yes NA   NA NA Yes Died at 2.5 months post-HSCT (7years 4months), EBV+ lymphoproliferative disorder
P008 c.438-?_894+?del p.? (r.Val148Lysfs*30) deletion of exon 5 and 6 Homozygous Germline Absent 2017 28062395 29700810 Patient 4 severe aplasti anemia/pancreatic dysfunction, metaphyseal dysplasia, short stature, developmental delay M 0 NA Pancytopenia Hypocellular, no dysplasia Normal Yes Yes Yes Yes NA Yes Yes NA   NA NA Yes Alive at 11 years old
P009 c.1143_1146del (NM NR) p.Lys381fs frameshift Compound heterozygous Unknown Absent 2018 29146883 29700810 UB114 bone marrow failure and neurodevelopmental delay F 1.2 NA NA NA NA NA NA NA NA NA NA Yes NA   NA NA NA NA
P009 c.14A>G p.Tyr5Cys missense Compound heterozygous Unknown 0.001% 2018 29146883 29700810 UB114 bone marrow failure and neurodevelopmental delay F 1.2 NA NA NA NA NA NA NA NA NA NA Yes NA   NA NA NA NA
P010 c.983+1G>T p.? (r.Gly299Alafs*2) splicing Homozygous Germline Absent 2018 29146883 29700810 UB091 bone marrow failure, mycrocephaly and short stature, neurodevelopmental delay, skin abnormalities M 0.5 Yes Anemia, Thrombocytopenia NA NA Yes No No NA Yes Yes Yes No   No NA Yes (MSD) Alive at 9 months post-HSCT
P011 c.463T>C p.Trp155Arg missense Homozygous Germline Absent 2022 35298850   13.5-year-old female  thrombocytopenia and progressive pancytopenia/short stature/dysmorphia F 2 Yes Anemia, Thrombocytopenia Dysplasia NA Yes NA No Yes Yes Yes No NA   NA NA NA NA
P012 c.148C>T p.Gln50* nonsense Compound heterozygous Germline Absent 2022 35464845   8-year-old boy pancytopenia, syndromic features, short stature, neurodevelopmental delay, recurrent infections M 0.7 No Pancytopenia Defective megakaryopoiesis, frequent mature and reactive lymphocytes. Normal Yes Yes Yes Yes Yes Yes Yes Yes   Yes NA No Alive at 8 years old
P012 c.643_644delinsTTT p.Lys215Phefs*71 frameshift Compound heterozygous Germline Absent 2022 35464845   8-year-old boy pancytopenia, syndromic features, short stature, neurodevelopmental delay, recurrent infections M 0.7 No Pancytopenia Defective megakaryopoiesis, frequent mature and reactive lymphocytes. Normal Yes Yes Yes Yes Yes Yes Yes Yes   Yes NA No Alive at 8 years old
P013 c.983+1G>A p.? (r.Gly299Alafs*2) splicing Homozygous Germline 0.01% 2025 39580647   11215 thrombocytopenia and dysmorphic features M 4 Yes NA NA NA NA NA NA NA Yes Yes NA NA   NA NA NA NA
P014 c.1155dup p.Gln386Thrfs*13 frameshift Homozygous Presumed germline 0.0002% 2023 37186482   A 20 year old female persistent thrombocytopenia F 20 Yes Reported normal NA Normal Yes No No Yes Yes Yes No No   NA NA No Alive at 2 years of follow up
P015 c.100A>G p.Lys34Glu missense Homozygous Germline Absent 2018 29700810   Patient 1 pancytopenia M 0.4 NA NA Hypocellular Normal Yes NA Yes Yes Yes Yes Yes Yes   Yes NA No Alive at 12y1m
P016 c.100A>G  p.Lys34Glu missense Homozygous Germline Absent 2018 29700810   Patient 2 pancytopenia F 0.7 NA NA Hypocellular Normal Yes NA Yes Yes No Yes Yes Yes   Yes NA No Alive at 9y10m
P017 c.100A>G p.Lys34Glu missense Homozygous Germline Absent 2018 29700810   Patient 3 pancytopenia, aplastic anemia M 2.5 NA NA Hypocellular, no dysplasia del(17p13.1) Yes No Yes Yes Yes Yes Yes Yes   Yes NA No Alive at 5y7m
P018 c.100A>G  p.Lys34Glu missense Homozygous Germline Absent 2018 29700810   Patient 4 pancytopenia F 1.1 NA NA Normal marrow del(20q) Yes No No Yes Yes Yes Yes Yes   Yes NA No Alive at 5y1m
P019 c.100A>G p.Lys34Glu missense Homozygous Germline Absent 2018 29700810   Patient 5 pancytopenia, aplastic anemia F 0.2 NA NA NA Normal No No NA Yes Yes Yes No no   Yes NA No Alive at 14m, platelet transfusion dependent
P020 c.544C>T p.Arg182* nonsense Homozygous Germline 0.002% 2019 30755392   Patient 132 panctytopenia/AML M 15 NA NA NA NA NA NA NA Yes Yes Yes Yes NA AML NA NA NA NA
P021 c.661C>T  p.Arg221* nonsense Homozygous Presumed germline 0.0003% 2025 40388595   GH01_P51 thrombocytopenia, cytopenia F 30 NA Thrombocytopenia NA Normal NA NA NA NA NA NA NA NA   NA No NA NA
P022 c.983 +1G>A p.? (r.Gly299Alafs*2) splicing Homozygous Germline 0.01% 2024 38408162   5-year-old girl thrombocytopenia at birth, progressive BMF, respiratory recurrent infections and hipogammaglobulinemia F 0 Yes Pancytopenia Hyponormocellular bone marrow: erythroid line hyperplasia, relatively decreased myelopoiesis, marked decrease in megakaryopoiesis Normal Yes Yes NA Yes Yes Yes Yes Yes   NA KMT2D p.(R452Q) NA Alive at 7 years 5 months 
P023 c.98-2delA p.? splicing Homozygous Presumed germline Absent 2025 40209608   Patient 2 bone marrow failure NA 0.4 NA Anemia, Thrombocytopenia Hypocellular, no dysplasia Normal NA NA NA NA NA Yes NA NA   No NA No Alive at 2 months of follow up
P024 c.544C>T p.Arg182* nonsense Homozygous Presumed germline 0.002% 2025 40209608   Patient 5 bone marrow failure NA 0.5 NA Pancytopenia Hypocellular with dysplasia Normal NA No NA NA NA Yes NA NA   No NA No Alive under follow up for 1.5y
P025 NA NA NA Homozygous Presumed germline NA 2022 34935734   22-month-old girl  progressive BMF and chronic diarrhea, mycrocephaly and failure to thrive F 0.25 Yes Anemia Hypocellular with dysplasia NA NA NA NA Yes Yes Yes NA Yes   NA NA Yes (MSD) Alive at 18months post-ttrasplant
P026 NA NA deletion encompasing the 5'UTR and exon 1 Homozygous Presumed germline Absent 2023 37491781   Patient #23 severe aplastic anemia F NA NA NA NA NA NA NA NA NA Yes Yes Yes NA   NA NA Yes  Alive 29 months post-HSCT
P027 c.92A>C  p.His31Pro missense Homozygous Presumed germline 0.0002% 2026 41715984   Case 1 severe and worsening pancytopenia with clonal evolution, multiorgan involvement and granulomatous inflammation of the lung M 0.9 Yes Leukopenia, Thrombocytopenia Reduced trilineage hematopoyesis, no dysplasia Normal No Yes Yes Yes Yes Yes Yes NA   No TET2, IDH1 Yes (MUD) Alive in CR 30 months post-HSCT
P028 c.544C>T p.Arg182* nonsense Homozygous Presumed germline 0.002% 2026 41715984   Case 2  progressive bone marrow failure, pancreatic insufficiency and some other organ involvement M 0.6 Yes Leukopenia, Thrombocytopenia Left shift in the myeloid series and adequate megakaryopoiesis Normal Yes Yes Yes Yes No NA No NA   No No Yes Alive and transfusion independent
P029 c.793G>T p.Glu265* nonsense Homozygous Presumed germline 0.0002% 2026 41715984   Case 3 pancytopenia with spontaneous resolution and short stature  F 4 No Thrombocytopenia Hypocellular, no dysplasia Normal Yes No No Yes No Yes Yes NA   No No No NA
P030 c.895+1G>A p.? splicing homozygous Germline 0.0001% unpublished   SJD01 bone marrow failureone M 1.2 Yes Anemia, Thrombocytopenia Normocellular with dyserythropoiesis Normal Yes Yes Yes Yes Yes Yes Yes Yes   Yes NA Yes (MSD) Alive in CR 12y from diagnosis
P031 c.895+1G>A  p.? splicing homozygous Germline 0.0001% unpublished   SJD02 pancreatic insuficiency, hematologic asymptomatic F 8 Yes Reported normal Normal marrow Normal Yes Yes Yes Yes Yes No Yes No   NA NR (2023? TP53 c.818G>A;pArg273His 27.4%, TP53 c.524G>A:pArg175His 12.5% - repeated normal) No Alive at 7y from diagnosis
P032 c.1359dupA p.Gly454Argfs*5 frameshift homozygous Germline Absent unpublished   SJD03 pancytopenia M 1 Yes Pancytopenia Hypocellular with dysplasia Normal Yes Yes NA NA Yes Yes Yes Yes   NA No TP53 No Alive with stable/better counts
P033 c.983+1G>A p.? (r.Gly299Alafs*2) splicing homozygous Germline 0.01% unpublished   SJ01 aplastic anemia and pancreatic insuficiency M 2 NA Pancytopenia Variably cellular marrow with megakaryocytic hypoplasia, left-shifted myeloid maturation and mild erythroid dysplasia Normal Yes Yes NA Yes NA Yes Yes NA   NA NA Yes (MUD) Alive in CR 18.5yo
P034 c.895+1G>A  p.? splicing homozygous Germline 0.0001% unpublished   SJ02 pancytopenia/progressive bone marrow failure, syndromic features and short telomeres M 0 NA Anemia, Thrombocytopenia Decreased megakaryocytes and mild dyspoietic changes Normal Yes No NA Yes Yes Yes Yes NA   Yes NA Yes (MUD) Alive in CR 16.8 years
P035 c.485dup p.Asn163Glufs*9 nonsense Homozygous Germline Absent unpublished   HIUNJ_01 bone marrow failure M 1.5 Yes Pancytopenia Hypercellular with significant granulocytic hyperplasia and left shift Normal Yes No No Yes Yes Yes Yes Yes MDS-LB NA TP53 c.659A>G Yes (MUD) Died
P036 c.517C>T  p.Arg173* nonsense homozygous Germline 0.002% unpublished   HIUNJ_02 bone marrow failure F 0 Yes Pancytopenia Hypocellular, no dysplasia 47, XX +2 Yes No Yes No No Yes Yes No   NA NA Yes (MUD) Died
P037 c.410T>C p.Phe137Ser missense Compound heterozygous Germline 0.001% unpublished   GR01 pancytopenia in infancy, progression to MDS/MPN in adulthood, failure to thrive M 3 No Pancytopenia NA 49-51, ΧΥ, -5,+8,del(13;),+r,+2-4mar Yes Yes No No Yes Yes No No MDS/MPN NA CSF3R c.1099_1102dupCGGA, TP53 c.844C>G, TP53 c.785G>T No Died at 30 yo
P037 c.517C>T  p.Arg173* nonsense Compound heterozygous Germline 0.002% unpublished   GR01 pancytopenia in infancy, progression to MDS/MPN in adulthood, failure to thrive M 3 No Pancytopenia NA 49-51, ΧΥ, -5,+8,del(13;),+r,+2-4mar Yes Yes No No Yes Yes No No MDS/MPN NA CSF3R c.1099_1102dupCGGA, TP53 c.844C>G, TP53 c.785G>T No Died at 30 yo
P038 c.1007_1010del p.Lys336Serfs*9 frameshift Homozygous Germline Absent unpublished   LB01 progressive bone marrow failure F 1 NA Pancytopenia 2% blasts, no dysplasia. Normal no No NA no Yes Yes Yes Yes   NA No No Alive awaiting HSCT
P039 c.1007_1010del p.Lys336Serfs*9 frameshift Homozygous Germline Absent unpublished   LB02 leukopenia, thrombocytopenia NA 1.3 Yes Leukopenia, Thrombocytopenia 70-80% cellular marrow with markedly decreased megakaryocytes and 7% blasts, dysplastic features unknown NA NA NA NA NA Yes Yes Yes Yes   NA IDH1 p.Arg132Cys NA NA
P040 c.133C>T  p.Gln45* nonsense Compound heterozygous Germline Absent unpublished   SCMC_01 thrombocytopenia and progression to MDS, short stature F 4 No Leukopenia, Thrombocytopenia 70% cellularity, dyserythropoiesis and dysgranulopoiesis, micromegakaryocytes Normal NA No Yes Yes Yes Yes No No MDS-LB NA PHF6: c.381T>A
RUNX1: c.1084_1085del (VAF 42.9%)		 Yes (MUD) Dead post-HSCT at 10 years 11 months
P040 c.439-1G>A p.? splicing Compound heterozygous Germline Absent unpublished   SCMC_01 thrombocytopenia and progression to MDS, short stature F 4 No Leukopenia, Thrombocytopenia 70% cellularity, dyserythropoiesis and dysgranulopoiesis, micromegakaryocytes Normal NA No Yes Yes Yes Yes No No MDS-LB NA PHF6: c.381T>A
RUNX1: c.1084_1085del (VAF 42.9%)		 Yes (MUD) Dead post-HSCT at 10 years 11 months
P041 c.97+1G>T p.? splicing Compound heterozygous Germline 0.0006% unpublished   SCMC_02 pancytopenia and short stature F 1.3 No Pancytopenia Hypocellular, no dysplasia Normal Yes No NA No No Yes No No   NA RUNX1 c.602G>A Yes (MUCB) Alive
P041 c.984-2A>G p.? splicing Compound heterozygous Germline Absent unpublished   SCMC_02 pancytopenia and short stature F 1.3 No Pancytopenia Hypocellular, no dysplasia Normal Yes No NA No No Yes No No   NA RUNX1 c.602G>A Yes (MUCB) Alive
P042 c.406delA p.Thr136Leufs*12 frameshift Homozygous Germline 0.0002% unpublished   Monza_01 stable mild bicitopenia and systemic features M 0 Yes Leukopenia Hypocellular with dysmyelo-/dyserythropoiesis Normal Yes No Yes Yes Yes Yes Yes No   Yes TP53 c.818G>A No Alive at 16 years old
P043 c.406delA p.Thr136Leufs*12 frameshift  Homozygous Germline 0.0002% unpublished   Monza_02 stable mild bicitopenia and systemic features F 0 Yes Leukopenia Hypocellular with dyserythropoiesis Normal Yes No Yes Yes Yes Yes Yes No   Yes TP53 c.817C>G No Alive at 15 years old 
P044 c.100A>G  p.Lys34Glu missense Compound heterozygous Unknown Absent unpublished   HJ_01 bone marrow failure, pancreatic insuficiency, short stature and dysmorphic features NA 1 No Anemia, Thrombocytopenia Hypocellular with dysgranulopoiesis Normal No Yes Yes No Yes Yes No No   NA No Yes (MUD) Alive at 11 years old 
P044 c.1143_1146del p.Lys381fs frameshift Compound heterozygous Unknown Absent unpublished   HJ_01 bone marrow failure, pancreatic insuficiency, short stature and dysmorphic features NA 1 No Anemia, Thrombocytopenia Hypocellular with dysgranulopoiesis Normal No Yes Yes No Yes Yes No No   NA No Yes (MUD) Alive at 11 years old 
P045 c.532C>T p.Arg178Cys missense Compound heterozygous Presumed germline 0.0012% unpublished   HJ_02 pancreatic insuficiency and mild thrombocytopenia NA 1 No Reported normal Normal marrow Normal No Yes No Yes Yes Yes No No   No No No Alive at 15.5 years old
P045 c.983+1G>A p.? (r.Gly299Alafs*2) frameshift Compound heterozygous Presumed germline 0.01% unpublished   HJ_02 pancreatic insuficiency and mild thrombocytopenia NA 1 No Reported normal Normal marrow Normal No Yes No Yes Yes Yes No No   No No No Alive at 15.5 years old
P046 c.673G>A p.Glu225Lys missense Compound heterozygous Germline 0.002% unpublished   CH_01 autism M 8 NA Reported normal Hyponormocellular, no dysplasia Normal NA NA NA NA NA NA Yes NA   NA TET2 c.1312C>T No Alive at 11 years old
P046 c.944A>T  p.Tyr315Phe missense Compound heterozygous Presumed germline 0.02% unpublished   CH_01 autism M 8 NA Reported normal Hyponormocellular, no dysplasia Normal NA NA NA NA NA NA Yes NA   NA TET2 c.1312C>T No Alive at 11 years old

AML: acute myeloid leukemia, HSCT: hematopoietic stem cell transplantation, M7: acute megakaryoblastic leukemia subgroup of the French-American-British (FAB) classification of AML, MDS-LB: MDS with low blasts, MDS/MPN: myelodysplastic/myeloproliferative neoplasm, MDS: matched sibling donor HSCT, MUD: matched unrelated donor HSCT, TRM: treatment-related mortality