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Bone Marrow Failure v1.93 ERG Zornitza Stark Classified gene: ERG as Green List (high evidence)
Bone Marrow Failure v1.93 ERG Zornitza Stark Gene: erg has been classified as Green List (High Evidence).
Bone Marrow Failure v1.92 ERG Hamish Scott reviewed gene: ERG: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: cytopenia, Thrombocytopenia, MDS, Lymphedema; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes
Bone Marrow Failure v1.92 FLT3LG Ain Roesley Marked gene: FLT3LG as ready
Bone Marrow Failure v1.92 FLT3LG Ain Roesley Gene: flt3lg has been classified as Red List (Low Evidence).
Bone Marrow Failure v1.92 FLT3LG Ain Roesley gene: FLT3LG was added
gene: FLT3LG was added to Bone Marrow Failure. Sources: Literature
Mode of inheritance for gene: FLT3LG was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: FLT3LG were set to 38701783
Phenotypes for gene: FLT3LG were set to Increased susceptibility to infections
Review for gene: FLT3LG was set to RED
gene: FLT3LG was marked as current diagnostic
Added comment: 3x sibs from a consanguineous family with a homozygous frameshift variant p.(Ser118Alafs*23)
recurrent infections and hypoplastic bone marrow with marked reduction in HPSCs
KO mice recapitulated BM findings

over a period of 5 (P1), 9 (P2), and 19 (P3) years of follow-up, all 3 were found to have moderate anaemia.
Total platelet counts and morphology decreased in 2 siblings.
Total WBC oscillated between low and normal
Eosinophils, basophils were in normal range
Neutrophils were in the lower part of the control range, ocassiannly lower
total lymphocyte counts were normal
Sources: Literature
Bone Marrow Failure v1.91 LIG4 Santosh Varughese reviewed gene: LIG4: Rating: GREEN; Mode of pathogenicity: Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments; Publications: 11779494, 16088910, 15333585, 20133615; Phenotypes: LIG4 syndrome, DNA ligase IV deficiency; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Bone Marrow Failure v1.91 GATA1 Santosh Varughese reviewed gene: GATA1: Rating: GREEN; Mode of pathogenicity: Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments; Publications: 14656875; Phenotypes: Thrombocytopaenia, X-linked, with or without dyserythropoietic anaemia; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females; Current diagnostic: yes
Bone Marrow Failure v1.91 GALE Santosh Varughese reviewed gene: GALE: Rating: GREEN; Mode of pathogenicity: Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments; Publications: 30247636' 34159722, 36395340; Phenotypes: Thrombocytopenia 12; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Bone Marrow Failure v1.91 G6PC3 Santosh Varughese reviewed gene: G6PC3: Rating: GREEN; Mode of pathogenicity: Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments; Publications: 19118303, 20799326, 25492228, 17318259, 20616219; Phenotypes: Neutropaenia, severe congenital 4, autosomal recessive, Dursun syndrome; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Bone Marrow Failure v1.91 FANCL Santosh Varughese reviewed gene: FANCL: Rating: GREEN; Mode of pathogenicity: Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments; Publications: 19405097, 25754594, 33394227, 33224012; Phenotypes: Fanconi anemia, complementation group L; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Bone Marrow Failure v1.91 FANCI Santosh Varughese reviewed gene: FANCI: Rating: GREEN; Mode of pathogenicity: Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments; Publications: 17452773; Phenotypes: Fanconi anemia, complementation group I; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Bone Marrow Failure v1.91 FANCG Santosh Varughese reviewed gene: FANCG: Rating: GREEN; Mode of pathogenicity: Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments; Publications: 9806548, 12552564; Phenotypes: Fanconi anaemia, complementation group G; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Bone Marrow Failure v1.91 FANCF Santosh Varughese reviewed gene: FANCF: Rating: GREEN; Mode of pathogenicity: Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments; Publications: 10615118, 31288759; Phenotypes: Fanconi anaemia, complementation group F; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Bone Marrow Failure v1.91 FANCE Santosh Varughese reviewed gene: FANCE: Rating: GREEN; Mode of pathogenicity: Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments; Publications: 11001585, 31586946, 7662964, 9382107, 9147877, 10205272; Phenotypes: Fanconi anaemia, complementation group E; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Bone Marrow Failure v1.91 FANCD2 Santosh Varughese reviewed gene: FANCD2: Rating: GREEN; Mode of pathogenicity: Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments; Publications: 17436244; Phenotypes: Fanconi anaemia, complementation group D2; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Bone Marrow Failure v1.91 FANCC Santosh Varughese reviewed gene: FANCC: Rating: GREEN; Mode of pathogenicity: Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments; Publications: 31044565, 30792206, 28717661; Phenotypes: Fanconi anemia, complementation group C; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Bone Marrow Failure v1.91 FANCB Santosh Varughese reviewed gene: FANCB: Rating: GREEN; Mode of pathogenicity: Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments; Publications: 15502827; Phenotypes: Fanconi anaemia, complementation group B; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females; Current diagnostic: yes
Bone Marrow Failure v1.91 FANCA Santosh Varughese reviewed gene: FANCA: Rating: GREEN; Mode of pathogenicity: Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments; Publications: 10094191; Phenotypes: Fanconi anaemia, complementation group A; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Bone Marrow Failure v1.91 ETV6 Santosh Varughese reviewed gene: ETV6: Rating: GREEN; Mode of pathogenicity: Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments; Publications: 25581430, 25807284; Phenotypes: Thrombocytopenia 5; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes
Bone Marrow Failure v1.91 ERCC6L2 Santosh Varughese reviewed gene: ERCC6L2: Rating: GREEN; Mode of pathogenicity: Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments; Publications: 24507776, 27185855; Phenotypes: Bone marrow failure syndrome 2; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Bone Marrow Failure v1.91 ERCC4 Santosh Varughese reviewed gene: ERCC4: Rating: GREEN; Mode of pathogenicity: Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments; Publications: 23623386; Phenotypes: Fanconi anemia, complementation group Q; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Bone Marrow Failure v1.91 ELANE Santosh Varughese reviewed gene: ELANE: Rating: GREEN; Mode of pathogenicity: Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments; Publications: 19036076, 3124897, 33968054; Phenotypes: Neutropaenia, severe congenital 1, autosomal dominant; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes
Bone Marrow Failure v1.91 EFL1 Santosh Varughese reviewed gene: EFL1: Rating: GREEN; Mode of pathogenicity: None; Publications: 28331068, 31151987; Phenotypes: Shwachman-Diamond syndrome 2; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Bone Marrow Failure v1.91 DUT Santosh Varughese reviewed gene: DUT: Rating: GREEN; Mode of pathogenicity: None; Publications: 28073829, 35611808; Phenotypes: Bone marrow failure and diabetes mellitus syndrome; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Bone Marrow Failure v1.91 DNASE2 Santosh Varughese reviewed gene: DNASE2: Rating: GREEN; Mode of pathogenicity: None; Publications: 29259162, 31775019; Phenotypes: Autoinflammatory-pancytopenia syndrome; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Bone Marrow Failure v1.91 DNAJC21 Santosh Varughese reviewed gene: DNAJC21: Rating: GREEN; Mode of pathogenicity: None; Publications: 29700810, 28062395, 27346687; Phenotypes: Bone marrow failure syndrome 3; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Bone Marrow Failure v1.91 DKC1 Santosh Varughese reviewed gene: DKC1: Rating: GREEN; Mode of pathogenicity: None; Publications: 31269755, 26951492, 29081935, 25940403; Phenotypes: Dyskeratosis congenita, X-linked 305000, Hoyeraal-Hreidarsson Syndrome; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females; Current diagnostic: yes
Bone Marrow Failure v1.91 DDX41 Santosh Varughese reviewed gene: DDX41: Rating: GREEN; Mode of pathogenicity: Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments; Publications: 10607561, 26712909, 25920683; Phenotypes: MYELOPROLIFERATIVE/LYMPHOPROLIFERATIVE NEOPLASMS, FAMILIAL (MULTIPLE TYPES), SUSCEPTIBILITY TO; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes
Bone Marrow Failure v1.91 DCLRE1B Santosh Varughese reviewed gene: DCLRE1B: Rating: GREEN; Mode of pathogenicity: None; Publications: 10699141, 20479256, 35007328; Phenotypes: Dyskeratosis congenita, autosomal recessive 8; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Bone Marrow Failure v1.91 CTC1 Santosh Varughese reviewed gene: CTC1: Rating: ; Mode of pathogenicity: None; Publications: 22267198, 22387016; Phenotypes: Cerebroretinal microangiopathy with calcifications and cysts; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Bone Marrow Failure v1.91 CSF3R Santosh Varughese reviewed gene: CSF3R: Rating: GREEN; Mode of pathogenicity: None; Publications: 24753537, 26324699, 33511998, 32966608; Phenotypes: Neutropaenia, severe congenital, 7, autosomal recessive; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Bone Marrow Failure v1.91 CLPB Santosh Varughese reviewed gene: CLPB: Rating: GREEN; Mode of pathogenicity: None; Publications: 34115842, 25597510, 25597511; Phenotypes: 3-@METHYLGLUTACONIC ACIDURIA, TYPE VIIB, 3-@METHYLGLUTACONIC ACIDURIA, TYPE VIIA, NEUTROPENIA, SEVERE CONGENITAL, 9, AUTOSOMAL DOMINANT; Mode of inheritance: BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal; Current diagnostic: yes
Bone Marrow Failure v1.91 CDAN1 Santosh Varughese reviewed gene: CDAN1: Rating: GREEN; Mode of pathogenicity: Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments; Publications: 32518175; Phenotypes: Dyserythropoietic anemia, congenital, type Ia; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Bone Marrow Failure v1.91 C15orf41 Santosh Varughese reviewed gene: C15orf41: Rating: GREEN; Mode of pathogenicity: Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments; Publications: 23716552, 32293259, 31191338, 29885034; Phenotypes: Dyserythropoietic anemia, congenital, type Ib; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Bone Marrow Failure v1.91 BRIP1 Santosh Varughese reviewed gene: BRIP1: Rating: GREEN; Mode of pathogenicity: Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments; Publications: 27107905; Phenotypes: Fanconi anaemia, complementation group J; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Bone Marrow Failure v1.91 BRCA2 Santosh Varughese reviewed gene: BRCA2: Rating: ; Mode of pathogenicity: Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments; Publications: 16825431; Phenotypes: Fanconi anaemia, complementation group D1; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Bone Marrow Failure v1.91 BRCA1 Santosh Varughese reviewed gene: BRCA1: Rating: GREEN; Mode of pathogenicity: Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments; Publications: 23269703, 29133208, 25472942, 29712865; Phenotypes: Fanconi anemia, complementation group S; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Bone Marrow Failure v1.91 ANKRD26 Santosh Varughese reviewed gene: ANKRD26: Rating: GREEN; Mode of pathogenicity: Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments; Publications: Thrombocytopaenia 2; Phenotypes: 21211618; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes
Bone Marrow Failure v1.91 ALAS2 Santosh Varughese reviewed gene: ALAS2: Rating: GREEN; Mode of pathogenicity: Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments; Publications: 10029606; Phenotypes: Anemia, sideroblastic, 1; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females; Current diagnostic: yes
Bone Marrow Failure v1.91 AK2 Santosh Varughese reviewed gene: AK2: Rating: GREEN; Mode of pathogenicity: Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments; Publications: 19043417, 19043416; Phenotypes: Reticular dysgenesis; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Bone Marrow Failure v1.91 ADA2 Santosh Varughese edited their review of gene: ADA2: Changed mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Bone Marrow Failure v1.91 ACD Santosh Varughese edited their review of gene: ACD: Changed mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Bone Marrow Failure v1.91 ADH5 Santosh Varughese reviewed gene: ADH5: Rating: GREEN; Mode of pathogenicity: Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments; Publications: 33147438; Phenotypes: AMED syndrome, digenic, Aplastic anaemia, myelodysplasia, short stature; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Bone Marrow Failure v1.91 ADA2 Santosh Varughese reviewed gene: ADA2: Rating: GREEN; Mode of pathogenicity: None; Publications: 25075847, 30406060, 12804991, 24552285, 10756095, 31652311, 26867732, 15926889, 20147294, 24552284; Phenotypes: VASCULITIS, AUTOINFLAMMATION, IMMUNODEFICIENCY, AND HEMATOLOGIC DEFECTS SYNDROME, SNEDDON SYNDROME; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes
Bone Marrow Failure v1.91 ACTB Santosh Varughese reviewed gene: ACTB: Rating: GREEN; Mode of pathogenicity: None; Publications: 32170967, 24458642, 28347698, 28487785, 29220674, 11311002, 23756437, 2837653, 31970217, 10928857, 12325076; Phenotypes: Dystonia-Deafness Syndrome 1, Baraitser-Winter Syndrome 1, Becker Nevus Syndrome and Becker Nevi, Congenital Smooth Muscle Hamartoma with or without Hemihypertrophy, Thrombocytopenia 8 with Dysmorphic Features and Developmental Delay; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes
Bone Marrow Failure v1.91 ACD Santosh Varughese reviewed gene: ACD: Rating: GREEN; Mode of pathogenicity: Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments; Publications: 25205116, 15537664, 25233904, 15181449, 18535244, 23103865, 17237768, 17237767, 15231715; Phenotypes: Dyskeratosis Congenita; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes
Bone Marrow Failure v1.91 ABCB7 Santosh Varughese reviewed gene: ABCB7: Rating: GREEN; Mode of pathogenicity: Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments; Publications: PMID: 8040304, 23835273, 25835712, 7825602, 7581394, 8566952, 11748843, 7825602; Phenotypes: ANEMIA, SIDEROBLASTIC, AND SPINOCEREBELLAR ATAXIA; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females; Current diagnostic: yes
Bone Marrow Failure v1.91 LCP1 Zornitza Stark Marked gene: LCP1 as ready
Bone Marrow Failure v1.91 LCP1 Zornitza Stark Gene: lcp1 has been classified as Amber List (Moderate Evidence).
Bone Marrow Failure v1.91 LCP1 Zornitza Stark Classified gene: LCP1 as Amber List (moderate evidence)
Bone Marrow Failure v1.91 LCP1 Zornitza Stark Gene: lcp1 has been classified as Amber List (Moderate Evidence).
Bone Marrow Failure v1.90 LCP1 Zornitza Stark gene: LCP1 was added
gene: LCP1 was added to Bone Marrow Failure. Sources: Literature
Mode of inheritance for gene: LCP1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: LCP1 were set to 38710235
Phenotypes for gene: LCP1 were set to Bone marrow failure syndrome, MONDO:0000159, LCP1-related
Review for gene: LCP1 was set to AMBER
Added comment: 3 individuals from single kindred presenting with fevers, recurrent infections ,lymphopenia, neutropenia and thrombocytopenia. Murine model with similar phenotype. heterozygous LCP1c.740 -1G>A splice site variant hypothesized to cause dominant negative mode of inheritance
Sources: Literature
Bone Marrow Failure v1.89 ELANE Zornitza Stark Mode of pathogenicity for gene: ELANE was changed from Other to Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments
Bone Marrow Failure v1.88 ELANE Zornitza Stark edited their review of gene: ELANE: Changed mode of pathogenicity: Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments
Bone Marrow Failure v1.88 GALE Zornitza Stark Marked gene: GALE as ready
Bone Marrow Failure v1.88 GALE Zornitza Stark Gene: gale has been classified as Green List (High Evidence).
Bone Marrow Failure v1.88 GALE Zornitza Stark Classified gene: GALE as Green List (high evidence)
Bone Marrow Failure v1.88 GALE Zornitza Stark Gene: gale has been classified as Green List (High Evidence).
Bone Marrow Failure v1.87 GALE Zornitza Stark gene: GALE was added
gene: GALE was added to Bone Marrow Failure. Sources: Expert Review
Mode of inheritance for gene: GALE was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: GALE were set to 30247636; 34159722; 36395340
Phenotypes for gene: GALE were set to Thrombocytopenia 12, syndromic, MIM#620776
Review for gene: GALE was set to GREEN
Added comment: 10 individuals from 5 families reported with bi-allelic variants in this gene and congenital thrombocytopenia resulting in increased bleeding. Platelets were enlarged (macrothrombocytopenia) and/or gray and had functional defects. Some individuals have infection-induced leukopenia or anaemia and pancytopenia. Additional more variable features have also been reported, including mitral valve malformations, pyloric stenosis, and impaired intellectual development.
Sources: Expert Review
Bone Marrow Failure v1.86 SH2B3 Ain Roesley Marked gene: SH2B3 as ready
Bone Marrow Failure v1.86 SH2B3 Ain Roesley Gene: sh2b3 has been classified as Green List (High Evidence).
Bone Marrow Failure v1.86 SH2B3 Ain Roesley Classified gene: SH2B3 as Green List (high evidence)
Bone Marrow Failure v1.86 SH2B3 Ain Roesley Gene: sh2b3 has been classified as Green List (High Evidence).
Bone Marrow Failure v1.85 SH2B3 Ain Roesley gene: SH2B3 was added
gene: SH2B3 was added to Bone Marrow Failure. Sources: Literature
Mode of inheritance for gene: SH2B3 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Publications for gene: SH2B3 were set to 37206266; 23908464; 38152053; 37206266; 38152053
Phenotypes for gene: SH2B3 were set to Predisposition to haematological malignancies; Myeloproliferation and multi-organ autoimmunity; juvenile myelomonocytic leukemia MONDO:001190, SH2B3-related
Review for gene: SH2B3 was set to GREEN
gene: SH2B3 was marked as current diagnostic
Added comment: PMID:37206266
2x families
- hom missense variant Val402Met:
functional performed on patient's fibroblasts demonstrated increased basal pSTAT5, pSTAT3 and increased pJAK2 + pSTAT5 after stimulation with IL-3, GH, GM-CSF and EPO

- hom fs Arg148Profs*40
functional performed in zebrafish demonstrated increased number of macrophages and thrombocytes

PMID:23908464;
1 fam with 2 affecteds with dev delay + autoimmunity + (1x) ALL, hom for Asp231Gly fs*3

PMID:38152053;
JMML cohort - 2x hom missense + 2x het PTCs
Sources: Literature
Bone Marrow Failure v1.84 ERG Zornitza Stark Phenotypes for gene: ERG were changed from https://ash.confex.com/ash/2023/webprogram/Paper191986.html to Myelodysplasia syndrome, MONDO:0018881, ERG-related
Bone Marrow Failure v1.83 ERG Zornitza Stark Publications for gene: ERG were set to
Bone Marrow Failure v1.82 ERG Zornitza Stark edited their review of gene: ERG: Changed phenotypes: Myelodysplasia syndrome, MONDO:0018881, ERG-related
Bone Marrow Failure v1.82 ERG Zornitza Stark edited their review of gene: ERG: Changed publications: https://ash.confex.com/ash/2023/webprogram/Paper191986.html
Bone Marrow Failure v1.82 ERG Zornitza Stark changed review comment from: Conference abstract:

15 heterozygous variants in the ERG gene, 13 of which are missense and 2 truncating variants, in 17 individuals with cytopenia and/or HM (mainly myeloid) or lympheedema. Onset of hematological symptoms ranged from birth to 38 years for truncating and constrained ETS domain variants.
Sources: Literature; to: Conference abstract:

15 heterozygous variants in the ERG gene, 13 of which are missense and 2 truncating variants, in 17 individuals with cytopenia and/or HM (mainly myeloid) or lymphoedema. Onset of hematological symptoms ranged from birth to 38 years for truncating and constrained ETS domain variants.
Sources: Literature
Bone Marrow Failure v1.82 ERG Zornitza Stark Marked gene: ERG as ready
Bone Marrow Failure v1.82 ERG Zornitza Stark Gene: erg has been classified as Amber List (Moderate Evidence).
Bone Marrow Failure v1.82 ERG Zornitza Stark Classified gene: ERG as Amber List (moderate evidence)
Bone Marrow Failure v1.82 ERG Zornitza Stark Gene: erg has been classified as Amber List (Moderate Evidence).
Bone Marrow Failure v1.81 ERG Zornitza Stark gene: ERG was added
gene: ERG was added to Bone Marrow Failure. Sources: Literature
Mode of inheritance for gene: ERG was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: ERG were set to https://ash.confex.com/ash/2023/webprogram/Paper191986.html
Review for gene: ERG was set to AMBER
Added comment: Conference abstract:

15 heterozygous variants in the ERG gene, 13 of which are missense and 2 truncating variants, in 17 individuals with cytopenia and/or HM (mainly myeloid) or lympheedema. Onset of hematological symptoms ranged from birth to 38 years for truncating and constrained ETS domain variants.
Sources: Literature
Bone Marrow Failure v1.80 RAP1B Zornitza Stark Phenotypes for gene: RAP1B were changed from Syndromic disease, MONDO:0002254, RAP1B-related to Thrombocytopenia 1 with multiple congenital anomalies and dysmorphic facies, MIM# 620654
Bone Marrow Failure v1.79 RAP1B Zornitza Stark edited their review of gene: RAP1B: Changed phenotypes: Thrombocytopenia 1 with multiple congenital anomalies and dysmorphic facies, MIM# 620654
Bone Marrow Failure v1.79 RPS15A Zornitza Stark Marked gene: RPS15A as ready
Bone Marrow Failure v1.79 RPS15A Zornitza Stark Gene: rps15a has been classified as Red List (Low Evidence).
Bone Marrow Failure v1.79 RPL35 Zornitza Stark Marked gene: RPL35 as ready
Bone Marrow Failure v1.79 RPL35 Zornitza Stark Gene: rpl35 has been classified as Red List (Low Evidence).
Bone Marrow Failure v1.79 RPS28 Zornitza Stark Marked gene: RPS28 as ready
Bone Marrow Failure v1.79 RPS28 Zornitza Stark Gene: rps28 has been classified as Amber List (Moderate Evidence).
Bone Marrow Failure v1.79 RPL8 Zornitza Stark Marked gene: RPL8 as ready
Bone Marrow Failure v1.79 RPL8 Zornitza Stark Gene: rpl8 has been classified as Amber List (Moderate Evidence).
Bone Marrow Failure v1.79 RPL18 Zornitza Stark Marked gene: RPL18 as ready
Bone Marrow Failure v1.79 RPL18 Zornitza Stark Gene: rpl18 has been classified as Amber List (Moderate Evidence).
Bone Marrow Failure v1.79 TBXAS1 Zornitza Stark Marked gene: TBXAS1 as ready
Bone Marrow Failure v1.79 TBXAS1 Zornitza Stark Gene: tbxas1 has been classified as Green List (High Evidence).
Bone Marrow Failure v1.79 DNASE2 Zornitza Stark Marked gene: DNASE2 as ready
Bone Marrow Failure v1.79 DNASE2 Zornitza Stark Gene: dnase2 has been classified as Green List (High Evidence).
Bone Marrow Failure v1.79 MPIG6B Zornitza Stark Marked gene: MPIG6B as ready
Bone Marrow Failure v1.79 MPIG6B Zornitza Stark Gene: mpig6b has been classified as Green List (High Evidence).
Bone Marrow Failure v1.79 ACTB Zornitza Stark Marked gene: ACTB as ready
Bone Marrow Failure v1.79 ACTB Zornitza Stark Gene: actb has been classified as Green List (High Evidence).
Bone Marrow Failure v1.79 TCN2 Zornitza Stark Marked gene: TCN2 as ready
Bone Marrow Failure v1.79 TCN2 Zornitza Stark Gene: tcn2 has been classified as Green List (High Evidence).
Bone Marrow Failure v1.79 NBN Zornitza Stark Marked gene: NBN as ready
Bone Marrow Failure v1.79 NBN Zornitza Stark Gene: nbn has been classified as Green List (High Evidence).
Bone Marrow Failure v1.79 RPS15A Chirag Patel gene: RPS15A was added
gene: RPS15A was added to Bone Marrow Failure. Sources: Expert list
Mode of inheritance for gene: RPS15A was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: RPS15A were set to PMID: 27909223
Phenotypes for gene: RPS15A were set to Diamond-Blackfan anemia 20, MIM# 618313
Review for gene: RPS15A was set to RED
Added comment: Single family reported.
Sources: Expert list
Bone Marrow Failure v1.78 RPL35 Chirag Patel gene: RPL35 was added
gene: RPL35 was added to Bone Marrow Failure. Sources: Expert list
Mode of inheritance for gene: RPL35 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: RPL35 were set to PMID: 28280134
Phenotypes for gene: RPL35 were set to Diamond-Blackfan anemia 19, MIM# 618312
Review for gene: RPL35 was set to RED
Added comment: Single family reported.
Sources: Expert list
Bone Marrow Failure v1.77 RPS28 Chirag Patel Classified gene: RPS28 as Amber List (moderate evidence)
Bone Marrow Failure v1.77 RPS28 Chirag Patel Gene: rps28 has been classified as Amber List (Moderate Evidence).
Bone Marrow Failure v1.76 RPS28 Chirag Patel gene: RPS28 was added
gene: RPS28 was added to Bone Marrow Failure. Sources: Expert list
Mode of inheritance for gene: RPS28 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: RPS28 were set to PMID: 24942156
Phenotypes for gene: RPS28 were set to Diamond Blackfan anemia 15 with mandibulofacial dysostosis, MIM# 606164
Review for gene: RPS28 was set to AMBER
Added comment: Two individuals reported in 2014, none since.
Sources: Expert list
Bone Marrow Failure v1.75 RPL8 Chirag Patel Classified gene: RPL8 as Amber List (moderate evidence)
Bone Marrow Failure v1.75 RPL8 Chirag Patel Gene: rpl8 has been classified as Amber List (Moderate Evidence).
Bone Marrow Failure v1.74 RPL8 Chirag Patel gene: RPL8 was added
gene: RPL8 was added to Bone Marrow Failure. Sources: Literature
Mode of inheritance for gene: RPL8 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: RPL8 were set to PMID: 25424902, 34961992
Phenotypes for gene: RPL8 were set to Diamond-Blackfan anemia MONDO:0015253
Review for gene: RPL8 was set to AMBER
Added comment: 2 unrelated DBA cases with de novo missense variants, and functional studies in lymphoblastoid cells and yeast models demonstrate the 2 missense variants are functionally deficient proteins that affect ribosome production.
Sources: Literature
Bone Marrow Failure v1.73 RPL18 Chirag Patel Classified gene: RPL18 as Amber List (moderate evidence)
Bone Marrow Failure v1.73 RPL18 Chirag Patel Gene: rpl18 has been classified as Amber List (Moderate Evidence).
Bone Marrow Failure v1.72 RPL18 Chirag Patel gene: RPL18 was added
gene: RPL18 was added to Bone Marrow Failure. Sources: Expert list
Mode of inheritance for gene: RPL18 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: RPL18 were set to PMID: 28280134, 32075953
Phenotypes for gene: RPL18 were set to Diamond-Blackfan anemia 18, MIM# 618310
Review for gene: RPL18 was set to AMBER
Added comment: One family and a zebrafish model.
Sources: Expert list
Bone Marrow Failure v1.71 TBXAS1 Chirag Patel Classified gene: TBXAS1 as Green List (high evidence)
Bone Marrow Failure v1.71 TBXAS1 Chirag Patel Gene: tbxas1 has been classified as Green List (High Evidence).
Bone Marrow Failure v1.70 TBXAS1 Chirag Patel gene: TBXAS1 was added
gene: TBXAS1 was added to Bone Marrow Failure. Sources: Expert list
Mode of inheritance for gene: TBXAS1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: TBXAS1 were set to PMID: 18264100
Phenotypes for gene: TBXAS1 were set to Ghosal hematodiaphyseal syndrome, MIM#231095
Review for gene: TBXAS1 was set to GREEN
gene: TBXAS1 was marked as current diagnostic
Added comment: Ghosal hematodiaphyseal dysplasia (GHDD) is an autosomal recessive disorder characterized by increased bone density with predominant diaphyseal involvement and aregenerative corticosteroid-sensitive anemia. Cases with severe anemia, leukopenia, thrombocytopenia, and hypocellular bone marrow.
Sources: Expert list
Bone Marrow Failure v1.69 DNASE2 Chirag Patel Classified gene: DNASE2 as Green List (high evidence)
Bone Marrow Failure v1.69 DNASE2 Chirag Patel Gene: dnase2 has been classified as Green List (High Evidence).
Bone Marrow Failure v1.68 DNASE2 Chirag Patel gene: DNASE2 was added
gene: DNASE2 was added to Bone Marrow Failure. Sources: Expert list
Mode of inheritance for gene: DNASE2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: DNASE2 were set to PMID: 29259162, 31775019
Phenotypes for gene: DNASE2 were set to Autoinflammatory-pancytopenia syndrome, MIM#619858
Review for gene: DNASE2 was set to GREEN
gene: DNASE2 was marked as current diagnostic
Added comment: Autoinflammatory-pancytopenia syndrome (AIPCS) is an autosomal recessive disorder characterized by severe anemia and thrombocytopenia apparent from early infancy, hepatosplenomegaly, and recurrent fevers associated with a hyperinflammatory state. Additional systemic features may include chronic diarrhea, proteinuria with renal disease, liver fibrosis with elevated liver enzymes, deforming arthropathy, and vasculitic skin lesions. Some patients may have motor delay or learning difficulties associated with subcortical white matter lesions on brain imaging.
Sources: Expert list
Bone Marrow Failure v1.67 MPIG6B Chirag Patel Classified gene: MPIG6B as Green List (high evidence)
Bone Marrow Failure v1.67 MPIG6B Chirag Patel Gene: mpig6b has been classified as Green List (High Evidence).
Bone Marrow Failure v1.66 MPIG6B Chirag Patel gene: MPIG6B was added
gene: MPIG6B was added to Bone Marrow Failure. Sources: Expert list
Mode of inheritance for gene: MPIG6B was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: MPIG6B were set to PMID: 31276734, 29898956, 27743390
Phenotypes for gene: MPIG6B were set to Thrombocytopenia, anemia, and myelofibrosis, MIM# 617441
Review for gene: MPIG6B was set to GREEN
gene: MPIG6B was marked as current diagnostic
Added comment: Six families reported.
Sources: Expert list
Bone Marrow Failure v1.65 ACTB Chirag Patel Classified gene: ACTB as Green List (high evidence)
Bone Marrow Failure v1.65 ACTB Chirag Patel Gene: actb has been classified as Green List (High Evidence).
Bone Marrow Failure v1.64 ACTB Chirag Patel gene: ACTB was added
gene: ACTB was added to Bone Marrow Failure. Sources: Expert list
Mode of inheritance for gene: ACTB was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: ACTB were set to PMID: 30315159
Phenotypes for gene: ACTB were set to Thrombocytopenia 8, with dysmorphic features and developmental delay, MIM# 620475
Review for gene: ACTB was set to GREEN
gene: ACTB was marked as current diagnostic
Added comment: Six unrelated individuals reported with heterozygous variants clustered in the 3'-coding region of ACTB (exons 5 and 6) and clinical features distinct from BWCFF, including mild developmental disability, microcephaly, and thrombocytopenia with platelet anisotropy.
Sources: Expert list
Bone Marrow Failure v1.63 TCN2 Chirag Patel Classified gene: TCN2 as Green List (high evidence)
Bone Marrow Failure v1.63 TCN2 Chirag Patel Gene: tcn2 has been classified as Green List (High Evidence).
Bone Marrow Failure v1.63 TCN2 Chirag Patel Classified gene: TCN2 as Green List (high evidence)
Bone Marrow Failure v1.63 TCN2 Chirag Patel Gene: tcn2 has been classified as Green List (High Evidence).
Bone Marrow Failure v1.62 TCN2 Chirag Patel gene: TCN2 was added
gene: TCN2 was added to Bone Marrow Failure. Sources: Expert list
Mode of inheritance for gene: TCN2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: TCN2 were set to PMID: 24305960, 7980584, 7849710, 20352340, 18956254, 32841161, 33023511, 30124850
Phenotypes for gene: TCN2 were set to Transcobalamin II deficiency, MIM#275350
Review for gene: TCN2 was set to GREEN
gene: TCN2 was marked as current diagnostic
Added comment: 26 pathogenic TCN2 variants have been reported in over 40 individuals; Bi-allelic (deletions, insertions, nonsense, mutations) variants have been reported; multiple mouse models

Transcobalamin II deficiency is characterised by early onset (infancy) failure to thrive, megaloblastic anaemia, immunodeficiency and pancytopaenia. Other features include methylmalonic aciduria, recurrent infections, hypogammaglobulinaemia, pallor, hypotonia and vomiting and diarrhoea. Treatment with cobalamin (B12) may be of clinical benefit, but left untreated may result in intellectual disability and neurologic abnormalities.
Sources: Expert list
Bone Marrow Failure v1.61 NBN Chirag Patel Classified gene: NBN as Green List (high evidence)
Bone Marrow Failure v1.61 NBN Chirag Patel Gene: nbn has been classified as Green List (High Evidence).
Bone Marrow Failure v1.60 NBN Chirag Patel gene: NBN was added
gene: NBN was added to Bone Marrow Failure. Sources: Expert list
Mode of inheritance for gene: NBN was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: NBN were set to PMID: 11325820, 15338273, 33488600, 33082212
Phenotypes for gene: NBN were set to Nijmegen breakage syndrome, MIM#251260; Aplastic anemia, MIM#609135; Leukemia, acute lymphoblastic, MIM#613065
Review for gene: NBN was set to GREEN
gene: NBN was marked as current diagnostic
Added comment: The Nijmegen breakage syndrome and the phenotypically indistinguishable Berlin breakage syndrome are autosomal recessive chromosomal instability syndromes characterized by microcephaly, growth retardation, immunodeficiency, and predisposition to cancer. >100 patients reported.
Sources: Expert list
Bone Marrow Failure v1.59 POT1 Zornitza Stark Marked gene: POT1 as ready
Bone Marrow Failure v1.59 POT1 Zornitza Stark Gene: pot1 has been classified as Green List (High Evidence).
Bone Marrow Failure v1.59 POT1 Zornitza Stark Classified gene: POT1 as Green List (high evidence)
Bone Marrow Failure v1.59 POT1 Zornitza Stark Gene: pot1 has been classified as Green List (High Evidence).
Bone Marrow Failure v1.58 POT1 Bryony Thompson gene: POT1 was added
gene: POT1 was added to Bone Marrow Failure. Sources: Expert list
Mode of inheritance for gene: POT1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: POT1 were set to 33119245
Phenotypes for gene: POT1 were set to Hereditary neoplastic syndrome, MONDO:0015356, POT1-related
Review for gene: POT1 was set to GREEN
gene: POT1 was marked as current diagnostic
Added comment: Well-established telomere disorder with a variety of solid and haematological malignancies reported. The mechanism of disease is loss of function leading to overall telomere lengthening, and resulting in fragile and dysfunctional telomeres.
Sources: Expert list
Bone Marrow Failure v1.56 MDM4 Bryony Thompson Marked gene: MDM4 as ready
Bone Marrow Failure v1.56 MDM4 Bryony Thompson Gene: mdm4 has been classified as Amber List (Moderate Evidence).
Bone Marrow Failure v1.56 MDM4 Bryony Thompson Classified gene: MDM4 as Amber List (moderate evidence)
Bone Marrow Failure v1.56 MDM4 Bryony Thompson Gene: mdm4 has been classified as Amber List (Moderate Evidence).
Bone Marrow Failure v1.55 MDM4 Bryony Thompson gene: MDM4 was added
gene: MDM4 was added to Bone Marrow Failure. Sources: Other
Mode of inheritance for gene: MDM4 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: MDM4 were set to 32300648; 33104793
Phenotypes for gene: MDM4 were set to bone marrow failure syndrome MONDO:0000159, MDM4-related
Review for gene: MDM4 was set to AMBER
Added comment: A single family was reported to segregate a missense variant (p.Thr454Met) with features suggestive of dyskeratosis congenita, e.g., bone marrow hypocellularity, short telomeres, tongue squamous cell carcinoma, and acute myeloid leukemia. A mouse model of p.Thr454Met showed increased p53 activity, decreased telomere length, and bone marrow failure.
Sources: Other
Bone Marrow Failure v1.54 POLE Seb Lunke Marked gene: POLE as ready
Bone Marrow Failure v1.54 POLE Seb Lunke Gene: pole has been classified as Red List (Low Evidence).
Bone Marrow Failure v1.54 POLE Seb Lunke Classified gene: POLE as Red List (low evidence)
Bone Marrow Failure v1.54 POLE Seb Lunke Gene: pole has been classified as Red List (Low Evidence).
Bone Marrow Failure v1.53 POLE Lilian Downie gene: POLE was added
gene: POLE was added to Bone Marrow Failure. Sources: Literature
Mode of inheritance for gene: POLE was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: POLE were set to PMID: 37833059
Phenotypes for gene: POLE were set to MONDO:0002254 syndromic disease
Review for gene: POLE was set to RED
Added comment: 2 sibs with compound heterozygous high impact variants with combined features of previously reported phenotypes (IMAGe and FILS) with this gene and new feature of congenital anaemia that evolved into myelodysplastic syndrome. Both had growth failure and epicanthic folds. Some functional work on human cells and a fish model to provide evidence of role in haematopoiesis.
Sources: Literature
Bone Marrow Failure v1.53 ELANE Zornitza Stark Publications for gene: ELANE were set to 19036076
Bone Marrow Failure v1.52 ELANE Zornitza Stark Mode of pathogenicity for gene: ELANE was changed from to Other
Bone Marrow Failure v1.51 ELANE Zornitza Stark edited their review of gene: ELANE: Added comment: The disease mechanism is unclear; however, considering current evidence it is unlikely that haploinsufficiency is a disease mechanism, and it is likely that the cause of neutropenia is not the lack of neutrophil elastase itself, but protease malfunction (PMID: 33968054)

According to ClinGen, there is little evidence for haploinsufficiency. gnomAD pLI score is zero and there are NMD predicted variants in the population.

Entire gene deletion is not described in the context of neutropenia, including deletion of 19p terminal (encompassing ELANE) (PMID: 33968054).

Maturation arrest, the failure of the marrow myeloid progenitors to form mature neutrophils, is a consistent feature of ELANE associated congenital neutropenia. Knock-out of the mutant allele in hematopoietic stem cells derived from SCN patients restores neutrophils maturation (PMID: 3124897).; Changed mode of pathogenicity: Other; Changed publications: 19036076, 3124897, 33968054
Bone Marrow Failure v1.51 SLC30A7 Zornitza Stark Marked gene: SLC30A7 as ready
Bone Marrow Failure v1.51 SLC30A7 Zornitza Stark Gene: slc30a7 has been classified as Red List (Low Evidence).
Bone Marrow Failure v1.51 SLC30A7 Zornitza Stark gene: SLC30A7 was added
gene: SLC30A7 was added to Bone Marrow Failure. Sources: Expert Review
Mode of inheritance for gene: SLC30A7 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SLC30A7 were set to 36821639
Phenotypes for gene: SLC30A7 were set to Ziegler-Huang syndrome, MIM# 620501
Review for gene: SLC30A7 was set to RED
Added comment: Two sibs reported with compound het variants in this gene and severe growth failure, testicular hypoplasia and progressive bone marrow failure.
Sources: Expert Review
Bone Marrow Failure v1.50 RAP1B Zornitza Stark Marked gene: RAP1B as ready
Bone Marrow Failure v1.50 RAP1B Zornitza Stark Gene: rap1b has been classified as Amber List (Moderate Evidence).
Bone Marrow Failure v1.50 RAP1B Zornitza Stark Classified gene: RAP1B as Amber List (moderate evidence)
Bone Marrow Failure v1.50 RAP1B Zornitza Stark Gene: rap1b has been classified as Amber List (Moderate Evidence).
Bone Marrow Failure v1.49 RAP1B Zornitza Stark gene: RAP1B was added
gene: RAP1B was added to Bone Marrow Failure. Sources: Expert list
Mode of inheritance for gene: RAP1B was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: RAP1B were set to 35451551; 32627184; 26280580
Phenotypes for gene: RAP1B were set to Syndromic disease, MONDO:0002254, RAP1B-related
Review for gene: RAP1B was set to AMBER
Added comment: PMID: 32627184 describes 2 patients.
36 yo patient of non-consanguineous parents. Had unclear pancytopenia, multiple congenital malformations, mild intellectual disability, endocrine disorders (short stature with growth hormone deficiency), dysmorphism and other features. Parents and sibling unaffected.
13 yo of non-consanguineous parents with thrombocytopenia, multiple congenital anomalies and learning difficulties. He had normal developmental milestones, walk was achieved at 14 months and there was no speech delay. He attended mainstream school with auxiliary help because of learning difficulties with graphism, syntaxic comprehension, logical reasoning and attention deficit. Parents and siblings unaffected.

PMID: 26280580 describes another patient with variant in RAP1B. The clinical features can be found in supplementary table 2. The table lists ID, but doesn't say severity and lists a host of other features including short stature, facial dysmorphism and skeletal findings. Cytopenia is not a feature for this patient.

PMID 35451551: New patient reported with mild intellectual disability, bicuspid aortic valve, dilation of aortic root and ascending aorta, hearing loss, and long‐standing thrombocytopenia with lymphopenia. Found to have a novel, missense mutation in RAP1B (p.Ala59Gly) - neighbouring amino acid to one of the previously reported variants.
Sources: Expert list
Bone Marrow Failure v1.48 THPO Zornitza Stark Marked gene: THPO as ready
Bone Marrow Failure v1.48 THPO Zornitza Stark Gene: thpo has been classified as Green List (High Evidence).
Bone Marrow Failure v1.48 THPO Zornitza Stark Classified gene: THPO as Green List (high evidence)
Bone Marrow Failure v1.48 THPO Zornitza Stark Gene: thpo has been classified as Green List (High Evidence).
Bone Marrow Failure v1.47 THPO Zornitza Stark gene: THPO was added
gene: THPO was added to Bone Marrow Failure. Sources: Expert Review
Mode of inheritance for gene: THPO was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: THPO were set to 24085763; 28559357; 29191945; 36226497
Phenotypes for gene: THPO were set to Amegakaryocytic thrombocytopenia, congenital, 2, MIM# 620481
Review for gene: THPO was set to GREEN
Added comment: 5 families reported with bi-allelic variants and thrombocytopenia with progression to pancytopenia, aplastic anemia, and bone marrow failure.
Sources: Expert Review
Bone Marrow Failure v1.46 GFI1 Zornitza Stark Tag treatable tag was added to gene: GFI1.
Bone Marrow Failure v1.46 CLPB Zornitza Stark Marked gene: CLPB as ready
Bone Marrow Failure v1.46 CLPB Zornitza Stark Gene: clpb has been classified as Green List (High Evidence).
Bone Marrow Failure v1.46 CLPB Zornitza Stark Phenotypes for gene: CLPB were changed from congenital neutropenia, 3-methylglutaconic aciduria, cataracts, severe psychomotor regression during febrile episodes, epilepsy to 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
Bone Marrow Failure v1.45 CLPB Zornitza Stark Classified gene: CLPB as Green List (high evidence)
Bone Marrow Failure v1.45 CLPB Zornitza Stark Gene: clpb has been classified as Green List (High Evidence).
Bone Marrow Failure v1.44 CLPB Pasquale Barbaro gene: CLPB was added
gene: CLPB was added to Bone Marrow Failure. Sources: Expert list
Mode of inheritance for gene: CLPB was set to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Publications for gene: CLPB were set to PMID: 34115842, 25597510, 25597511
Phenotypes for gene: CLPB were set to congenital neutropenia, 3-methylglutaconic aciduria, cataracts, severe psychomotor regression during febrile episodes, epilepsy
Penetrance for gene: CLPB were set to unknown
Mode of pathogenicity for gene: CLPB was set to Other
Review for gene: CLPB was set to GREEN
Added comment: Biallelic variants identified have been loss of function, and cause a severe syndrome associated with 3-MGA, cataracts, developmental delay, epilepsy. Heterozygous variants have been found in one paper (Warren et al) in 10 patients with non-syndromic congenital neutropenia and appear to cause a dominant negative effect.
Sources: Expert list
Bone Marrow Failure v1.44 NOP10 Zornitza Stark Phenotypes for gene: NOP10 were changed from Dyskeratosis congenita, autosomal recessive 1, MIM#224230 to Dyskeratosis congenita, autosomal recessive 1, MIM#224230; Pulmonary fibrosis and/or bone marrow failure syndrome, telomere-related, 9, MIM# 620400
Bone Marrow Failure v1.43 NOP10 Zornitza Stark Publications for gene: NOP10 were set to 17507419
Bone Marrow Failure v1.42 NOP10 Zornitza Stark Mode of inheritance for gene: NOP10 was changed from BIALLELIC, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Bone Marrow Failure v1.41 NOP10 Zornitza Stark edited their review of gene: NOP10: Added comment: PMID 32139460: multiplex family with 4 affected individuals and heterozygous variant in NOP10.; Changed rating: AMBER; Changed publications: 17507419, 32139460; Changed phenotypes: Dyskeratosis congenita, autosomal recessive 1, MIM#224230, Pulmonary fibrosis and/or bone marrow failure syndrome, telomere-related, 9, MIM# 620400; Changed mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Bone Marrow Failure v1.41 NAF1 Zornitza Stark Phenotypes for gene: NAF1 were changed from Pulmonary fibrosis and/or bone marrow failure, telomere-related MONDO:0000148 to Pulmonary fibrosis and/or bone marrow failure syndrome, telomere-related, 7, MIM# 620365
Bone Marrow Failure v1.40 NAF1 Zornitza Stark reviewed gene: NAF1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Pulmonary fibrosis and/or bone marrow failure syndrome, telomere-related, 7, MIM# 620365; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Bone Marrow Failure v1.40 ZCCHC8 Bryony Thompson Marked gene: ZCCHC8 as ready
Bone Marrow Failure v1.40 ZCCHC8 Bryony Thompson Gene: zcchc8 has been classified as Amber List (Moderate Evidence).
Bone Marrow Failure v1.40 ZCCHC8 Bryony Thompson Classified gene: ZCCHC8 as Amber List (moderate evidence)
Bone Marrow Failure v1.40 ZCCHC8 Bryony Thompson Gene: zcchc8 has been classified as Amber List (Moderate Evidence).
Bone Marrow Failure v1.39 ZCCHC8 Bryony Thompson gene: ZCCHC8 was added
gene: ZCCHC8 was added to Bone Marrow Failure. Sources: Literature
Mode of inheritance for gene: ZCCHC8 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: ZCCHC8 were set to 31488579
Phenotypes for gene: ZCCHC8 were set to Pulmonary fibrosis and/or bone marrow failure, telomere-related MONDO:0000148
Review for gene: ZCCHC8 was set to AMBER
Added comment: A missense variant (P186L) segregates over 3 generations in a single family, and supporting in vitro assays and mouse model.
Sources: Literature
Bone Marrow Failure v1.38 NOP10 Bryony Thompson Classified gene: NOP10 as Amber List (moderate evidence)
Bone Marrow Failure v1.38 NOP10 Bryony Thompson Gene: nop10 has been classified as Amber List (Moderate Evidence).
Bone Marrow Failure v1.37 NOP10 Bryony Thompson reviewed gene: NOP10: Rating: AMBER; Mode of pathogenicity: None; Publications: 17507419, 32554502; Phenotypes: Dyskeratosis congenita, autosomal recessive 1, MIM#224230, Telomere syndrome MONDO:0100137; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Bone Marrow Failure v1.37 ACD Bryony Thompson Phenotypes for gene: ACD were changed from Dyskeratosis congenita, MIM# 616553 to telomere syndrome MONDO:0100137; dyskeratosis congenita, autosomal dominant 6 MONDO:0014690; Hoyeraal-Hreidarsson syndrome MONDO:0018045
Bone Marrow Failure v1.36 ACD Bryony Thompson Publications for gene: ACD were set to 25205116; 25233904
Bone Marrow Failure v1.35 ACD Bryony Thompson Classified gene: ACD as Green List (high evidence)
Bone Marrow Failure v1.35 ACD Bryony Thompson Gene: acd has been classified as Green List (High Evidence).
Bone Marrow Failure v1.34 ACD Bryony Thompson reviewed gene: ACD: Rating: GREEN; Mode of pathogenicity: None; Publications: 27807141, 31515401, 30995915, 27528712, 25205116, 24316971, 30064976, 33446513, 25233904; Phenotypes: telomere syndrome MONDO:0100137, dyskeratosis congenita, autosomal dominant 6 MONDO:0014690, Hoyeraal-Hreidarsson syndrome MONDO:0018045; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Bone Marrow Failure v1.34 NAF1 Bryony Thompson Marked gene: NAF1 as ready
Bone Marrow Failure v1.34 NAF1 Bryony Thompson Gene: naf1 has been classified as Green List (High Evidence).
Bone Marrow Failure v1.34 NAF1 Bryony Thompson Classified gene: NAF1 as Green List (high evidence)
Bone Marrow Failure v1.34 NAF1 Bryony Thompson Added comment: Comment on list classification: Included because of the increased risk for progressive bone marrow failure associated with telomere biology disorders
Bone Marrow Failure v1.34 NAF1 Bryony Thompson Gene: naf1 has been classified as Green List (High Evidence).
Bone Marrow Failure v1.33 NAF1 Bryony Thompson gene: NAF1 was added
gene: NAF1 was added to Bone Marrow Failure. Sources: Literature
Mode of inheritance for gene: NAF1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: NAF1 were set to 27510903
Phenotypes for gene: NAF1 were set to Pulmonary fibrosis and/or bone marrow failure, telomere-related MONDO:0000148
Review for gene: NAF1 was set to GREEN
Added comment: At least 3 probands/families with telomere-related pulmonary fibrosis and a supporting mouse model
PMID: 27510903 - 5 individuals from 2 unrelated families with pulmonary fibrosis-emphysema and extrapulmonary manifestations including myelodysplastic syndrome and liver disease, with LoF variants. Truncated NAF1 was detected in cells derived from patients, and, in cells in which a frameshift mutation was introduced by genome editing telomerase RNA levels were reduced. Shortened telomere length also segregated with the variants. A Naf1+/- mouse model had reduced telomerase RNA levels

ClinVar - 1 nonsense and 2 splice site variants (ID: 2443185, 1338525, 2443184) called LP by the Genetic Services Laboratory, University of Chicago but no clinical details were provided
- SCV002547372.1 - Garcia Pulmonary Genetics Research Laboratory, Columbia University Irving Medical Center - at least one individual with pulmonary fibrosis and leukocyte telomere length (by qPCR) less than 10th percentile age-adjusted
Sources: Literature
Bone Marrow Failure v1.32 SRP54 Raja Vasireddy reviewed gene: SRP54: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 29914977; Phenotypes: Neutropenia, promyelocytic maturation arrest, neurodevelopmental delay, exocrine pancreatic insuffciency.; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Bone Marrow Failure v1.32 SRPRA Zornitza Stark Marked gene: SRPRA as ready
Bone Marrow Failure v1.32 SRPRA Zornitza Stark Gene: srpra has been classified as Amber List (Moderate Evidence).
Bone Marrow Failure v1.32 SRPRA Zornitza Stark Phenotypes for gene: SRPRA were changed from neutropenia; myeloid maturation arrest; exocrine pancreatic insufficiency; growth deficiency to Schwachman-Diamond syndrome MONDO:0009833, SRPA-related
Bone Marrow Failure v1.31 SRPRA Zornitza Stark Classified gene: SRPRA as Amber List (moderate evidence)
Bone Marrow Failure v1.31 SRPRA Zornitza Stark Gene: srpra has been classified as Amber List (Moderate Evidence).
Bone Marrow Failure v1.30 SRPRA Zornitza Stark reviewed gene: SRPRA: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: Schwachman-Diamond syndrome MONDO:0009833, SRPA-relatted; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Bone Marrow Failure v1.30 SRP19 Zornitza Stark Classified gene: SRP19 as Amber List (moderate evidence)
Bone Marrow Failure v1.30 SRP19 Zornitza Stark Gene: srp19 has been classified as Amber List (Moderate Evidence).
Bone Marrow Failure v1.29 SRP19 Zornitza Stark edited their review of gene: SRP19: Added comment: Five individuals from two branches of a consanguineous family, good segregation data. Zebrafish model.; Changed rating: AMBER
Bone Marrow Failure v1.29 SRP19 Zornitza Stark Marked gene: SRP19 as ready
Bone Marrow Failure v1.29 SRP19 Zornitza Stark Gene: srp19 has been classified as Red List (Low Evidence).
Bone Marrow Failure v1.29 SRP19 Zornitza Stark Phenotypes for gene: SRP19 were changed from Neutropenia, MONDO:0001475, SRP19-related to Neutropenia, MONDO:0001475, SRP19-related
Bone Marrow Failure v1.29 SRP19 Zornitza Stark Phenotypes for gene: SRP19 were changed from neutropenia; myeloid maturation arrest; growth deficiency to Neutropenia, MONDO:0001475, SRP19-related
Bone Marrow Failure v1.28 SRP19 Zornitza Stark Classified gene: SRP19 as Red List (low evidence)
Bone Marrow Failure v1.28 SRP19 Zornitza Stark Gene: srp19 has been classified as Red List (Low Evidence).
Bone Marrow Failure v1.27 SRP19 Zornitza Stark reviewed gene: SRP19: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Neutropenia, MONDO:0001475, SRP19-related; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Bone Marrow Failure v1.27 SRP19 Pasquale Barbaro gene: SRP19 was added
gene: SRP19 was added to Bone Marrow Failure. Sources: Literature
Mode of inheritance for gene: SRP19 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SRP19 were set to PMID: 36223592
Phenotypes for gene: SRP19 were set to neutropenia; myeloid maturation arrest; growth deficiency
Penetrance for gene: SRP19 were set to unknown
Review for gene: SRP19 was set to RED
Added comment: One kindred reported
Sources: Literature
Bone Marrow Failure v1.27 SRPRA Pasquale Barbaro gene: SRPRA was added
gene: SRPRA was added to Bone Marrow Failure. Sources: Literature
Mode of inheritance for gene: SRPRA was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: SRPRA were set to PMID: 36223592
Phenotypes for gene: SRPRA were set to neutropenia; myeloid maturation arrest; exocrine pancreatic insufficiency; growth deficiency
Penetrance for gene: SRPRA were set to unknown
Review for gene: SRPRA was set to RED
Added comment: One patient reported with functional data
Sources: Literature
Bone Marrow Failure v1.27 MBD4 Zornitza Stark Marked gene: MBD4 as ready
Bone Marrow Failure v1.27 MBD4 Zornitza Stark Gene: mbd4 has been classified as Green List (High Evidence).
Bone Marrow Failure v1.27 MBD4 Zornitza Stark Classified gene: MBD4 as Green List (high evidence)
Bone Marrow Failure v1.27 MBD4 Zornitza Stark Gene: mbd4 has been classified as Green List (High Evidence).
Bone Marrow Failure v1.26 MBD4 Krithika Murali changed review comment from: Associated with AML, myelodysplastic syndrome, pancytopenia, polyposis. D/W Meg Wall - suitable for bone marrow failure gene list as Green gene.

PMID: 30049810 - 34 yo F initially presented with pancytopenia, subsequent diagnosis of AML with myelodysplasia-related changes was made on bone marrow examination

PMID:35381620 (reviewed by Dr Chern Lim): A 37-year-old man presented with symptomatic anaemia and pancytopenia, a diagnosis of myelodysplastic syndrome with ring sideroblasts and multilineage dysplasia (MDS-RS-MLD) was made on bone marrow biopsy, patient has a homozygous missense variant in the germline.

PMID:35460607: Biallelic loss-of-function germline variants in four families with five individuals with adenomatous colorectal polyposis, acute myeloid leukemia, and uveal melanoma. Presentation also included myelodysplastic syndrome in an individual which is associated with low blood counts.
Sources: Literature, Expert Review; to: Associated with AML, myelodysplastic syndrome, pancytopenia, polyposis. D/W Meg Wall - suitable for bone marrow failure gene list as Green gene.

PMID: 30049810 - 34 yo F initially presented with pancytopenia, subsequent diagnosis of AML with myelodysplasia-related changes was made on bone marrow examination

PMID:35381620 (reviewed by Dr Chern Lim): A 37-year-old man presented with symptomatic anaemia and pancytopenia, a diagnosis of myelodysplastic syndrome with ring sideroblasts and multilineage dysplasia (MDS-RS-MLD) was made on bone marrow biopsy, patient has a homozygous missense variant in the germline.

PMID:35460607: Biallelic loss-of-function germline variants in four families with five individuals with adenomatous colorectal polyposis, acute myeloid leukemia, and uveal melanoma. Presentation also included myelodysplastic syndrome in an individual.

Sources: Literature, Expert Review
Bone Marrow Failure v1.26 MBD4 Krithika Murali changed review comment from: Associated with AML, myelodysplastic syndrome, pancytopenia, polyposis. D/W Meg Wall - suitable for bone marrow failure gene list as Green gene.

PMID: 30049810 - 34 yo F initially presented with pancytopenia, subsequent diagnosis of AML with myelodysplasia-related changes was made on bone marrow examination

PMID:35381620 (reviewed by Dr Chern Lim): A 37-year-old man presented with symptomatic anaemia and pancytopenia, a diagnosis of myelodysplastic syndrome with ring sideroblasts and multilineage dysplasia (MDS-RS-MLD) was made on bone marrow biopsy, patient has a homozygous missense variant in the germline.

PMID:35460607: Biallelic loss-of-function germline variants in four families with five individuals with adenomatous colorectal polyposis, acute myeloid leukemia, and uveal melanoma. Presentation also included myelodysplastic syndrome in an individual which is associated with low blood counts.
Sources: Literature, Expert Review; to: Associated with AML, myelodysplastic syndrome, pancytopenia, polyposis. D/W Meg Wall - suitable for bone marrow failure gene list as Green gene.

PMID: 30049810 - 34 yo F initially presented with pancytopenia, subsequent diagnosis of AML with myelodysplasia-related changes was made on bone marrow examination

PMID:35381620 (reviewed by Dr Chern Lim): A 37-year-old man presented with symptomatic anaemia and pancytopenia, a diagnosis of myelodysplastic syndrome with ring sideroblasts and multilineage dysplasia (MDS-RS-MLD) was made on bone marrow biopsy, patient has a homozygous missense variant in the germline.

PMID:35460607: Biallelic loss-of-function germline variants in four families with five individuals with adenomatous colorectal polyposis, acute myeloid leukemia, and uveal melanoma. Presentation also included myelodysplastic syndrome in an individual which is associated with low blood counts.
Sources: Literature, Expert Review
Bone Marrow Failure v1.26 MBD4 Krithika Murali gene: MBD4 was added
gene: MBD4 was added to Bone Marrow Failure. Sources: Literature,Expert Review
Mode of inheritance for gene: MBD4 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: MBD4 were set to PMID: 30049810; PMID:35460607; PMID:35381620
Phenotypes for gene: MBD4 were set to Tumor predisposition syndrome 2 - MIM#619975; Adenomatous colorectal polyposis, myelodysplastic syndrome, acute myeloid leukemia, and uveal melanoma
Review for gene: MBD4 was set to GREEN
Added comment: Associated with AML, myelodysplastic syndrome, pancytopenia, polyposis. D/W Meg Wall - suitable for bone marrow failure gene list as Green gene.

PMID: 30049810 - 34 yo F initially presented with pancytopenia, subsequent diagnosis of AML with myelodysplasia-related changes was made on bone marrow examination

PMID:35381620 (reviewed by Dr Chern Lim): A 37-year-old man presented with symptomatic anaemia and pancytopenia, a diagnosis of myelodysplastic syndrome with ring sideroblasts and multilineage dysplasia (MDS-RS-MLD) was made on bone marrow biopsy, patient has a homozygous missense variant in the germline.

PMID:35460607: Biallelic loss-of-function germline variants in four families with five individuals with adenomatous colorectal polyposis, acute myeloid leukemia, and uveal melanoma. Presentation also included myelodysplastic syndrome in an individual which is associated with low blood counts.
Sources: Literature, Expert Review
Bone Marrow Failure v1.26 DCLRE1B Zornitza Stark Marked gene: DCLRE1B as ready
Bone Marrow Failure v1.26 DCLRE1B Zornitza Stark Gene: dclre1b has been classified as Green List (High Evidence).
Bone Marrow Failure v1.26 DCLRE1B Zornitza Stark Phenotypes for gene: DCLRE1B were changed from Dyskeratosis congenita, autosomal recessive 8 to Dyskeratosis congenita, autosomal recessive 8, MIM# 620133
Bone Marrow Failure v1.25 DCLRE1B Zornitza Stark Classified gene: DCLRE1B as Green List (high evidence)
Bone Marrow Failure v1.25 DCLRE1B Zornitza Stark Gene: dclre1b has been classified as Green List (High Evidence).
Bone Marrow Failure v1.24 DCLRE1B Manny Jacobs gene: DCLRE1B was added
gene: DCLRE1B was added to Bone Marrow Failure. Sources: Literature
Mode of inheritance for gene: DCLRE1B was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: DCLRE1B were set to 10699141; 20479256; 35007328
Phenotypes for gene: DCLRE1B were set to Dyskeratosis congenita, autosomal recessive 8
Review for gene: DCLRE1B was set to GREEN
Added comment: PMID 35007328
3 unrelated individuals with progressive bone marrow failure in early childhood. Other variable features reported: growth restriction, mild microcephaly (-2.5 SD), facial dysmorphism, and speech delay or learning difficulties, one patient with mucocutaneous features. Two individuals developed esophageal strictures and the third developed inflammatory ulcerative colitis.
2 patients chet for truncating/missense variant
1 patient hom for missense variant
Patient cell lines demonstrated telomere fragility and instability and an increase in spontaneous radial chromosomes, chromosome breaks and sister chromatid exchanges, as well as reduced cell survival. CRISPR introduction of one WT allele in one patient complemented DNA repair defects.

PMID: 20479256
One individual with Hoyeraal-Hreidarsson syndrome reported with shortened transcript in DCLRE1B of the patient’s cells; not seen in controls or other HH patients. Shortened transcript identified caused by intra-exonic splice of exon 4 leading to out-of-frame deletion causing premature stop codon (denoted splice variant “Apollo-Δ”) No molecular origin of splice variant could be identified and only linked to HH is by this one reported patient and the known DCLRE1B (SNM1B) role in telomere protection.
Sources: Literature
Bone Marrow Failure v1.24 Bryony Thompson Panel types changed to Victorian Clinical Genetics Services; Royal Melbourne Hospital; Rare Disease
Bone Marrow Failure v1.23 GATA2 Zornitza Stark Tag treatable tag was added to gene: GATA2.
Bone Marrow Failure v1.23 HEATR3 Zornitza Stark Phenotypes for gene: HEATR3 were changed from Diamond Blackfan anaemia MONDO:0015253, HEATR3 related to Diamond-Blackfan anaemia 21, MIM# 620072
Bone Marrow Failure v1.22 HEATR3 Zornitza Stark reviewed gene: HEATR3: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Diamond-Blackfan anaemia 21, MIM# 620072; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Bone Marrow Failure v1.22 VPS45 Zornitza Stark Tag treatable tag was added to gene: VPS45.
Bone Marrow Failure v1.22 BRIP1 Zornitza Stark Tag treatable tag was added to gene: BRIP1.
Bone Marrow Failure v1.22 DUT Alison Yeung Marked gene: DUT as ready
Bone Marrow Failure v1.22 DUT Alison Yeung Gene: dut has been classified as Green List (High Evidence).
Bone Marrow Failure v1.22 DUT Alison Yeung Classified gene: DUT as Green List (high evidence)
Bone Marrow Failure v1.22 DUT Alison Yeung Gene: dut has been classified as Green List (High Evidence).
Bone Marrow Failure v1.21 DUT Daniel Flanagan gene: DUT was added
gene: DUT was added to Bone Marrow Failure. Sources: Expert list
Mode of inheritance for gene: DUT was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: DUT were set to 28073829; 35611808
Phenotypes for gene: DUT were set to Bone marrow failure and diabetes mellitus syndrome (MIM#620044)
Review for gene: DUT was set to AMBER
Added comment: Homozygous missense (p.(Tyr142Cys)) identified in eight affected individuals from four unrelated consanguineous families (French, Egyptian, two Libyan) with diabetes and bone marrow failure. DUT silencing in human and rat pancreatic b-cells results in apoptosis via the intrinsic cell death pathway.

p.(Tyr142Cys) has 11 heterozygotes and no homozygotes in gnomAD.
Sources: Expert list
Bone Marrow Failure v1.21 MYSM1 Zornitza Stark Tag treatable tag was added to gene: MYSM1.
Bone Marrow Failure v1.21 LIG4 Zornitza Stark Tag treatable tag was added to gene: LIG4.
Bone Marrow Failure v1.21 TYMS Zornitza Stark Tag digenic tag was added to gene: TYMS.
Bone Marrow Failure v1.21 TYMS Zornitza Stark Phenotypes for gene: TYMS were changed from Dyskeratosis congenita MONDO:0015780 to Dyskeratosis congenita, digenic, MIM#620040
Bone Marrow Failure v1.20 TYMS Zornitza Stark edited their review of gene: TYMS: Changed phenotypes: Dyskeratosis congenita, digenic, MIM#620040
Bone Marrow Failure v1.20 Zornitza Stark HPO terms changed from to Abnormality of multiple cell lineages of the bone marrow, HP:0012145
List of related panels changed from to Abnormality of multiple cell lineages of the bone marrow; HP:0012145
Bone Marrow Failure v1.19 AK2 Zornitza Stark Tag treatable tag was added to gene: AK2.
Bone Marrow Failure v1.19 TYMS Zornitza Stark Marked gene: TYMS as ready
Bone Marrow Failure v1.19 TYMS Zornitza Stark Gene: tyms has been classified as Amber List (Moderate Evidence).
Bone Marrow Failure v1.19 TYMS Zornitza Stark Classified gene: TYMS as Amber List (moderate evidence)
Bone Marrow Failure v1.19 TYMS Zornitza Stark Gene: tyms has been classified as Amber List (Moderate Evidence).
Bone Marrow Failure v1.18 TYMS Zornitza Stark reviewed gene: TYMS: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: Dyskeratosis congenita MONDO:0015780; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Bone Marrow Failure v1.18 TYMS Lucy Spencer gene: TYMS was added
gene: TYMS was added to Bone Marrow Failure. Sources: Literature
Mode of inheritance for gene: TYMS was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: TYMS were set to 35931051
Phenotypes for gene: TYMS were set to Dyskeratosis congenita MONDO:0015780
Review for gene: TYMS was set to RED
Added comment: 8 families with dyskeratosis congenita and heterozygous variants in TYMS. 4 PTCs, 2 missense and 1 splice (2 families had the same frameshift). However in all families 1 unaffected parent was also heterozygous for the same TYSM variant.

The other parent in 3 of these families was then shown to carry a heterozygous variant in ENOSF1 which each affected child was also heterozygous for. ENOSF1 has been shown to modify TYMS expression at the RNA level by acting as an antisense molecule to TYMS. ENOSF1 partially overlaps TYMS on chromosome 18 and is transcribed in the opposite direction to TYMS. This paper is suggesting digenic inheritance.

The TYMS wild type parent from another family was seen to have a TYMSOS variant which was also observed along with the TYMS variant in their 2 affected children.

Immunoblotting showed a stark reduction in TYMS protein level in the cells of affected probands when compared to the parent carrier, wild-type parent, and the controls.

Lymphoblastoid cells from affected probands have severe TYMS deficiency, altered cellular deoxyribonucleotide triphosphate pools, and hypersensitivity to the TYMS-specific inhibitor 5-fluorouracil. These defects in the nucleotide metabolism pathway resulted in genotoxic stress, defective transcription, and abnormal telomere maintenance. Gene-rescue studies in cells from affected probands revealed that post-transcriptional epistatic silencing of TYMS is occurring via elevated ENOSF1.
Sources: Literature
Bone Marrow Failure v1.18 GATA1 Zornitza Stark edited their review of gene: GATA1: Changed phenotypes: Thrombocytopaenia, X-linked, with or without dyserythropoietic anaemia, MIM# 300367
Bone Marrow Failure v1.18 GATA1 Zornitza Stark edited their review of gene: GATA1: Changed phenotypes: Thrombocytopenia, X-linked, with or without dyserythropoietic anemia, MIM# 300367, Haemolytic anemia due to elevated adenosine deaminase 301083
Bone Marrow Failure v1.18 PTPN13 Zornitza Stark Marked gene: PTPN13 as ready
Bone Marrow Failure v1.18 PTPN13 Zornitza Stark Gene: ptpn13 has been classified as Amber List (Moderate Evidence).
Bone Marrow Failure v1.18 PTPN13 Zornitza Stark Classified gene: PTPN13 as Amber List (moderate evidence)
Bone Marrow Failure v1.18 PTPN13 Zornitza Stark Gene: ptpn13 has been classified as Amber List (Moderate Evidence).
Bone Marrow Failure v1.17 HEATR3 Zornitza Stark Marked gene: HEATR3 as ready
Bone Marrow Failure v1.17 HEATR3 Zornitza Stark Gene: heatr3 has been classified as Green List (High Evidence).
Bone Marrow Failure v1.17 HEATR3 Zornitza Stark Phenotypes for gene: HEATR3 were changed from Bone marrow failure, short stature, facial and acromelic dysmorphic features, and mild intellectual disability to Diamond Blackfan anaemia MONDO:0015253, HEATR3 related
Bone Marrow Failure v1.16 HEATR3 Zornitza Stark Classified gene: HEATR3 as Green List (high evidence)
Bone Marrow Failure v1.16 HEATR3 Zornitza Stark Gene: heatr3 has been classified as Green List (High Evidence).
Bone Marrow Failure v1.15 PTPN13 Ain Roesley gene: PTPN13 was added
gene: PTPN13 was added to Bone Marrow Failure. Sources: Literature
Mode of inheritance for gene: PTPN13 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: PTPN13 were set to 35643866
Phenotypes for gene: PTPN13 were set to bone marrow failure syndrome MONDO#0000159, PTPN13-related
Review for gene: PTPN13 was set to AMBER
gene: PTPN13 was marked as current diagnostic
Added comment: 2 families

Family A: 3 affecteds only 2 sequenced. Hom for a missense
3/3 Anaemia, 1x thrombocytopaenia, 1x severe neutropaenia, bone marrow with pure red cell aplasia
noted that the sibling who wasn't sequenced had normal bone marrow morphology

Family B: Chet for a missense and inframe del of 1 amino acid
Persistent hypogammaglobulinemia after transplant (at least 14 months after) with normal blood counts and Pre-B ALL with MLL rearrangement

In vitro studies of individual variants were LoF, including defective erythroid and megakaryocytic differentiation, consistent with anaemia and thrombocytopaenia reported in family A
Sources: Literature
Bone Marrow Failure v1.15 PTPN13 Ain Roesley gene: PTPN13 was added
gene: PTPN13 was added to Bone Marrow Failure. Sources: Literature
Mode of inheritance for gene: PTPN13 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: PTPN13 were set to 35643866
Phenotypes for gene: PTPN13 were set to bone marrow failure syndrome MONDO#0000159, PTPN13-related
Review for gene: PTPN13 was set to AMBER
gene: PTPN13 was marked as current diagnostic
Added comment: 2 families

Family A: 3 affecteds only 2 sequenced. Hom for a missense
3/3 Anaemia, 1x thrombocytopaenia, 1x severe neutropaenia, bone marrow with pure red cell aplasia
noted that the sibling who wasn't sequenced had normal bone marrow morphology

Family B: Chet for a missense and inframe del of 1 amino acid
Persistent hypogammaglobulinemia after transplant (at least 14 months after) with normal blood counts and Pre-B ALL with MLL rearrangement

In vitro studies of individual variants were LoF, including defective erythroid and megakaryocytic differentiation, consistent with anaemia and thrombocytopaenia reported in family A
Sources: Literature
Bone Marrow Failure v1.14 HEATR3 Chern Lim gene: HEATR3 was added
gene: HEATR3 was added to Bone Marrow Failure. Sources: Literature
Mode of inheritance for gene: HEATR3 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: HEATR3 were set to PMID: 35213692
Phenotypes for gene: HEATR3 were set to Bone marrow failure, short stature, facial and acromelic dysmorphic features, and mild intellectual disability
Review for gene: HEATR3 was set to GREEN
gene: HEATR3 was marked as current diagnostic
Added comment: PMID: 35213692:
- 4 unrelated individuals with biallelic HEATR3 variants (missense and splice site variants), exhibiting bone marrow failure, short stature, facial and acromelic dysmorphic features, and mild intellectual disability.
- Functional analysis showed HEATR3 variants destabilised the protein, resulting in a reduction of nuclear uL18 and impaired ribosome biogenesis.
Sources: Literature
Bone Marrow Failure v1.14 TLR8 Zornitza Stark Phenotypes for gene: TLR8 were changed from Immunodeficiency; bone marrow failure to Immunodeficiency 98 with autoinflammation, X-linked, MIM# 301078
Bone Marrow Failure v1.13 TLR8 Zornitza Stark edited their review of gene: TLR8: Changed phenotypes: Immunodeficiency 98 with autoinflammation, X-linked, MIM# 301078
Bone Marrow Failure v1.13 KIF23 Zornitza Stark Phenotypes for gene: KIF23 were changed from Anaemia, congenital dyserythropoietic, type IIIA 105600 to Anaemia, congenital dyserythropoietic, type IIIA 105600
Bone Marrow Failure v1.12 KIF23 Zornitza Stark Phenotypes for gene: KIF23 were changed from Congenital dyserythropoietic anemia type III to Anaemia, congenital dyserythropoietic, type IIIA 105600
Bone Marrow Failure v1.12 KIF23 Zornitza Stark Publications for gene: KIF23 were set to 23570799
Bone Marrow Failure v1.11 KIF23 Zornitza Stark Classified gene: KIF23 as Amber List (moderate evidence)
Bone Marrow Failure v1.11 KIF23 Zornitza Stark Gene: kif23 has been classified as Amber List (Moderate Evidence).
Bone Marrow Failure v1.10 KIF23 Zornitza Stark edited their review of gene: KIF23: Added comment: Second individual reported, elongation variant.; Changed rating: AMBER; Changed publications: 23570799, 33159567; Changed phenotypes: Anaemia, congenital dyserythropoietic, type IIIA 105600
Bone Marrow Failure v1.10 RPA1 Zornitza Stark Phenotypes for gene: RPA1 were changed from Bone marrow failure; T- and B-cell lymphopaenia; pulmonary fibrosis; skin manifestations; short telomeres to 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
Bone Marrow Failure v1.9 RPA1 Zornitza Stark edited their review of gene: RPA1: Changed 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
Bone Marrow Failure v1.9 RPA1 Zornitza Stark Marked gene: RPA1 as ready
Bone Marrow Failure v1.9 RPA1 Zornitza Stark Gene: rpa1 has been classified as Green List (High Evidence).
Bone Marrow Failure v1.9 RPA1 Zornitza Stark Classified gene: RPA1 as Green List (high evidence)
Bone Marrow Failure v1.9 RPA1 Zornitza Stark Gene: rpa1 has been classified as Green List (High Evidence).
Bone Marrow Failure v1.8 RPA1 Zornitza Stark gene: RPA1 was added
gene: RPA1 was added to Bone Marrow Failure. Sources: Literature
Mode of inheritance for gene: RPA1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: RPA1 were set to 34767620
Phenotypes for gene: RPA1 were set to Bone marrow failure; T- and B-cell lymphopaenia; pulmonary fibrosis; skin manifestations; short telomeres
Mode of pathogenicity for gene: RPA1 was set to Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments
Review for gene: RPA1 was set to GREEN
Added comment: 4 individuals with gain of function variants with bone marrow failure, myelodysplastic syndrome, T- and B-cell lymphopaenia, pulmonary fibrosis, or skin manifestations reported.
Sources: Literature
Bone Marrow Failure v1.7 MPL Zornitza Stark Phenotypes for gene: MPL were changed from Myelofibrosis with myeloid metaplasia, somatic, MIM#2544503; Thrombocythemia 2, MIM#601977, AD, SMu; Thrombocytopenia, congenital amegakaryocytic, MIM#604498, AR to Myelofibrosis with myeloid metaplasia, somatic, MIM#254450; Thrombocythemia 2, MIM#601977, AD, SMu; Thrombocytopenia, congenital amegakaryocytic, MIM#604498, AR
Bone Marrow Failure v1.6 MPL Zornitza Stark edited their review of gene: MPL: Changed phenotypes: Myelofibrosis with myeloid metaplasia, somatic, MIM#254450, Thrombocythemia 2, MIM#601977, AD, SMu, Thrombocytopenia, congenital amegakaryocytic, MIM#604498, AR
Bone Marrow Failure v1.6 GIMAP5 Zornitza Stark Marked gene: GIMAP5 as ready
Bone Marrow Failure v1.6 GIMAP5 Zornitza Stark Gene: gimap5 has been classified as Green List (High Evidence).
Bone Marrow Failure v1.6 GIMAP5 Zornitza Stark Classified gene: GIMAP5 as Green List (high evidence)
Bone Marrow Failure v1.6 GIMAP5 Zornitza Stark Gene: gimap5 has been classified as Green List (High Evidence).
Bone Marrow Failure v1.5 GIMAP5 Zornitza Stark gene: GIMAP5 was added
gene: GIMAP5 was added to Bone Marrow Failure. Sources: Expert list
Mode of inheritance for gene: GIMAP5 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: GIMAP5 were set to 33956074
Phenotypes for gene: GIMAP5 were set to Portal hypertension, noncirrhotic, 2, MIM# 619463
Review for gene: GIMAP5 was set to GREEN
Added comment: 8 individuals from 4 unrelated families reported with onset of disease in the first decade of life. Clinical features included jaundice, hyperbilirubinaemia, pancytopaenia, including neutropaenia, lymphopaenia, and thrombocytopaenia, hepatosplenomegaly, and oesophageal varices. Some individuals had recurrent infections or features suggestive of an immunodeficiency. Liver biopsy was notable for the absence of cirrhosis and the presence of nodular regeneration.
Sources: Expert list
Bone Marrow Failure v1.4 CSF3R Zornitza Stark Phenotypes for gene: CSF3R were changed from Neutropenia, severe congenital, 7, autosomal recessive, MIM# 617014 to Neutropaenia, severe congenital, 7, autosomal recessive, MIM# 617014
Bone Marrow Failure v1.3 CSF3R Zornitza Stark Publications for gene: CSF3R were set to 24753537; 26324699
Bone Marrow Failure v1.2 CSF3R Zornitza Stark edited their review of gene: CSF3R: Changed publications: 24753537, 26324699, 33511998, 32966608; Changed phenotypes: Neutropenia, severe congenital, 7, autosomal recessive, MIM# 617014
Bone Marrow Failure v1.2 CSF3R Zornitza Stark changed review comment from: Three unrelated families reported.
Sources: Expert list; to: At least 5 unrelated families reported. Some reports of progression to myelodysplasia.
Sources: Expert list
Bone Marrow Failure v1.2 AK2 Zornitza Stark Phenotypes for gene: AK2 were changed from Reticular dysgenesis, MIM# 267500 to Reticular dysgenesis, MIM# 267500; MONDO:0009973
Bone Marrow Failure v1.1 AK2 Zornitza Stark Publications for gene: AK2 were set to 19043416; 19043417
Bone Marrow Failure v1.1 AK2 Zornitza Stark Publications for gene: AK2 were set to 19043416; 19043417
Bone Marrow Failure v1.1 AK2 Zornitza Stark Publications for gene: AK2 were set to 19043416
Bone Marrow Failure v1.0 AK2 Zornitza Stark edited their review of gene: AK2: Changed publications: 19043416, 19043417
Bone Marrow Failure v1.0 AK2 Zornitza Stark changed review comment from: Well established gene-disease association.; to: Well established gene-disease association.

PMID: 19043417 (2009). 6 affected individuals from 5 unrelated families (3 of the families showed evidence of consanguinity). Homozygous (5 individuals) and compound heterozygous (1 individual) variants in the AK2 gene. Variants included missense, deletion and inframe indel, resulting in protein LoF. Available parents were sequenced and found heterozygous for the variants, supporting bi-allelic inheritance.

PMID: 19043416 (2009). 7 affected individuals from 6 unrelated families (2 separate consanguineous & 4 non-consanguineous families). Homozygous and compound heterozygous variants detected (missense, deletion, inframe indel), resulting in protein LoF. Reticular dysgenesis phenotype including Leukopenia, lymphopenia and agranulocytosis in all affected individuals and sensorineural deafness in 7 individuals.
Bone Marrow Failure v1.0 AK2 Zornitza Stark edited their review of gene: AK2: Changed phenotypes: Reticular dysgenesis, MIM# 267500, MONDO:0009973
Bone Marrow Failure v1.0 Zornitza Stark promoted panel to version 1.0
Bone Marrow Failure v0.319 TINF2 Zornitza Stark Marked gene: TINF2 as ready
Bone Marrow Failure v0.319 TINF2 Zornitza Stark Gene: tinf2 has been classified as Green List (High Evidence).
Bone Marrow Failure v0.319 TINF2 Zornitza Stark Phenotypes for gene: TINF2 were changed from to Dyskeratosis congenita, autosomal dominant 3, MIM# 613990; Revesz syndrome, MIM# 268130
Bone Marrow Failure v0.318 TINF2 Zornitza Stark Publications for gene: TINF2 were set to
Bone Marrow Failure v0.317 TINF2 Zornitza Stark Mode of inheritance for gene: TINF2 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Bone Marrow Failure v0.316 TINF2 Zornitza Stark reviewed gene: TINF2: Rating: GREEN; Mode of pathogenicity: None; Publications: 18669893, 21199492, 18252230, 21477109, 33097095; Phenotypes: Dyskeratosis congenita, autosomal dominant 3, MIM# 613990, Revesz syndrome, MIM# 268130; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Bone Marrow Failure v0.316 TERT Zornitza Stark Marked gene: TERT as ready
Bone Marrow Failure v0.316 TERT Zornitza Stark Gene: tert has been classified as Green List (High Evidence).
Bone Marrow Failure v0.316 TERT Zornitza Stark Phenotypes for gene: TERT were changed from to Dyskeratosis congenita, MIM# 613989; Pulmonary fibrosis and/or bone marrow failure, telomere-related, 1, MIM# 614742
Bone Marrow Failure v0.315 TERT Zornitza Stark Publications for gene: TERT were set to
Bone Marrow Failure v0.314 TERT Zornitza Stark Mode of inheritance for gene: TERT was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Bone Marrow Failure v0.313 TERT Zornitza Stark reviewed gene: TERT: Rating: GREEN; Mode of pathogenicity: None; Publications: 16247010, 15814878; Phenotypes: Dyskeratosis congenita, MIM# 613989, Pulmonary fibrosis and/or bone marrow failure, telomere-related, 1, MIM# 614742; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Bone Marrow Failure v0.313 KLF1 Zornitza Stark Marked gene: KLF1 as ready
Bone Marrow Failure v0.313 KLF1 Zornitza Stark Gene: klf1 has been classified as Green List (High Evidence).
Bone Marrow Failure v0.313 ACD Zornitza Stark Marked gene: ACD as ready
Bone Marrow Failure v0.313 ACD Zornitza Stark Gene: acd has been classified as Red List (Low Evidence).
Bone Marrow Failure v0.313 ACD Zornitza Stark Phenotypes for gene: ACD were changed from to Dyskeratosis congenita, MIM# 616553
Bone Marrow Failure v0.312 ACD Zornitza Stark Publications for gene: ACD were set to
Bone Marrow Failure v0.311 ACD Zornitza Stark Mode of inheritance for gene: ACD was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Bone Marrow Failure v0.310 ACD Zornitza Stark Classified gene: ACD as Red List (low evidence)
Bone Marrow Failure v0.310 ACD Zornitza Stark Gene: acd has been classified as Red List (Low Evidence).
Bone Marrow Failure v0.309 ACD Zornitza Stark reviewed gene: ACD: Rating: RED; Mode of pathogenicity: None; Publications: 25205116, 25233904; Phenotypes: Dyskeratosis congenita, MIM# 616553; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Bone Marrow Failure v0.309 USB1 Zornitza Stark Marked gene: USB1 as ready
Bone Marrow Failure v0.309 USB1 Zornitza Stark Gene: usb1 has been classified as Green List (High Evidence).
Bone Marrow Failure v0.309 USB1 Zornitza Stark Phenotypes for gene: USB1 were changed from to Poikiloderma with neutropaenia, MIM# 604173; MONDO:0011405
Bone Marrow Failure v0.308 USB1 Zornitza Stark Publications for gene: USB1 were set to
Bone Marrow Failure v0.307 USB1 Zornitza Stark Mode of inheritance for gene: USB1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Bone Marrow Failure v0.306 USB1 Zornitza Stark reviewed gene: USB1: Rating: GREEN; Mode of pathogenicity: None; Publications: 20004881, 20503306, 34004352, 33624217, 33111394, 32936385, 32620997, 31522452; Phenotypes: Poikiloderma with neutropaenia, MIM# 604173, MONDO:0011405; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Bone Marrow Failure v0.306 WAS Zornitza Stark Marked gene: WAS as ready
Bone Marrow Failure v0.306 WAS Zornitza Stark Gene: was has been classified as Green List (High Evidence).
Bone Marrow Failure v0.306 WAS Zornitza Stark Phenotypes for gene: WAS were changed from to Wiskott-Aldrich syndrome, MIM# 301000; Thrombocytopenia, X-linked, MIM# 313900
Bone Marrow Failure v0.305 WAS Zornitza Stark Mode of inheritance for gene: WAS was changed from Unknown to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Bone Marrow Failure v0.304 WRAP53 Zornitza Stark Marked gene: WRAP53 as ready
Bone Marrow Failure v0.304 WRAP53 Zornitza Stark Gene: wrap53 has been classified as Green List (High Evidence).
Bone Marrow Failure v0.304 WRAP53 Zornitza Stark Phenotypes for gene: WRAP53 were changed from to Dyskeratosis congenita, autosomal recessive 3, MIM# 613988
Bone Marrow Failure v0.303 WRAP53 Zornitza Stark Publications for gene: WRAP53 were set to
Bone Marrow Failure v0.302 WRAP53 Zornitza Stark Mode of inheritance for gene: WRAP53 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Bone Marrow Failure v0.301 WRAP53 Zornitza Stark reviewed gene: WRAP53: Rating: GREEN; Mode of pathogenicity: None; Publications: 21205863, 32303682, 29514627; Phenotypes: Dyskeratosis congenita, autosomal recessive 3, MIM# 613988; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Bone Marrow Failure v0.301 TAZ Zornitza Stark Marked gene: TAZ as ready
Bone Marrow Failure v0.301 TAZ Zornitza Stark Gene: taz has been classified as Green List (High Evidence).
Bone Marrow Failure v0.301 TAZ Zornitza Stark Phenotypes for gene: TAZ were changed from to Barth syndrome, MIM# 302060
Bone Marrow Failure v0.300 TAZ Zornitza Stark Mode of inheritance for gene: TAZ was changed from Unknown to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Bone Marrow Failure v0.299 TAZ Zornitza Stark reviewed gene: TAZ: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Barth syndrome, MIM# 302060; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Bone Marrow Failure v0.299 SBDS Zornitza Stark Marked gene: SBDS as ready
Bone Marrow Failure v0.299 SBDS Zornitza Stark Gene: sbds has been classified as Green List (High Evidence).
Bone Marrow Failure v0.299 SBDS Zornitza Stark Phenotypes for gene: SBDS were changed from to Shwachman-Diamond syndrome, MIM# 260400
Bone Marrow Failure v0.298 SBDS Zornitza Stark Mode of inheritance for gene: SBDS was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Bone Marrow Failure v0.297 SBDS Zornitza Stark reviewed gene: SBDS: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Shwachman-Diamond syndrome, MIM# 260400; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Bone Marrow Failure v0.297 RTEL1 Zornitza Stark Marked gene: RTEL1 as ready
Bone Marrow Failure v0.297 RTEL1 Zornitza Stark Gene: rtel1 has been classified as Green List (High Evidence).
Bone Marrow Failure v0.297 RTEL1 Zornitza Stark Phenotypes for gene: RTEL1 were changed from to Dyskeratosis congenita, MIM# 615190; Pulmonary fibrosis and/or bone marrow failure, telomere-related, 3, MIM# 616373
Bone Marrow Failure v0.296 RTEL1 Zornitza Stark Publications for gene: RTEL1 were set to
Bone Marrow Failure v0.295 RTEL1 Zornitza Stark Mode of inheritance for gene: RTEL1 was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Bone Marrow Failure v0.294 RTEL1 Zornitza Stark reviewed gene: RTEL1: Rating: GREEN; Mode of pathogenicity: None; Publications: 23453664, 23329068, 25848748, 25607374, 15210109; Phenotypes: Dyskeratosis congenita, MIM# 615190, Pulmonary fibrosis and/or bone marrow failure, telomere-related, 3, MIM# 616373; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Bone Marrow Failure v0.294 RPS10 Zornitza Stark Marked gene: RPS10 as ready
Bone Marrow Failure v0.294 RPS10 Zornitza Stark Gene: rps10 has been classified as Green List (High Evidence).
Bone Marrow Failure v0.294 RPS10 Zornitza Stark Phenotypes for gene: RPS10 were changed from to Diamond-Blackfan anaemia 9, MIM# 613308
Bone Marrow Failure v0.293 RPS10 Zornitza Stark Publications for gene: RPS10 were set to
Bone Marrow Failure v0.292 RPS10 Zornitza Stark Mode of inheritance for gene: RPS10 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Bone Marrow Failure v0.291 RPL5 Zornitza Stark Marked gene: RPL5 as ready
Bone Marrow Failure v0.291 RPL5 Zornitza Stark Gene: rpl5 has been classified as Green List (High Evidence).
Bone Marrow Failure v0.291 RPL5 Zornitza Stark Phenotypes for gene: RPL5 were changed from to Diamond-Blackfan anaemia 6, MIM# 612561; MONDO:0012937
Bone Marrow Failure v0.290 RPL5 Zornitza Stark Publications for gene: RPL5 were set to
Bone Marrow Failure v0.289 RPL5 Zornitza Stark Mode of inheritance for gene: RPL5 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Bone Marrow Failure v0.287 RMRP Zornitza Stark Marked gene: RMRP as ready
Bone Marrow Failure v0.287 RMRP Zornitza Stark Gene: rmrp has been classified as Green List (High Evidence).
Bone Marrow Failure v0.287 RMRP Zornitza Stark Phenotypes for gene: RMRP were changed from to Cartilage-hair hypoplasia, MIM# 250250
Bone Marrow Failure v0.286 RMRP Zornitza Stark Mode of inheritance for gene: RMRP was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Bone Marrow Failure v0.285 RMRP Zornitza Stark reviewed gene: RMRP: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Cartilage-hair hypoplasia, MIM# 250250; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Bone Marrow Failure v0.285 PARN Zornitza Stark Marked gene: PARN as ready
Bone Marrow Failure v0.285 PARN Zornitza Stark Gene: parn has been classified as Green List (High Evidence).
Bone Marrow Failure v0.285 PARN Zornitza Stark Phenotypes for gene: PARN were changed from to Dyskeratosis congenita, autosomal recessive 6, MIM# 616353; Pulmonary fibrosis and/or bone marrow failure, telomere-related, 4, MIM# 616371
Bone Marrow Failure v0.284 PARN Zornitza Stark Publications for gene: PARN were set to
Bone Marrow Failure v0.283 PARN Zornitza Stark Mode of inheritance for gene: PARN was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Bone Marrow Failure v0.282 PARN Zornitza Stark reviewed gene: PARN: Rating: GREEN; Mode of pathogenicity: None; Publications: 25893599, 26342108, 25848748; Phenotypes: Dyskeratosis congenita, autosomal recessive 6, MIM# 616353, Pulmonary fibrosis and/or bone marrow failure, telomere-related, 4, MIM# 616371; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Bone Marrow Failure v0.282 PALB2 Zornitza Stark Marked gene: PALB2 as ready
Bone Marrow Failure v0.282 PALB2 Zornitza Stark Gene: palb2 has been classified as Green List (High Evidence).
Bone Marrow Failure v0.282 PALB2 Zornitza Stark Phenotypes for gene: PALB2 were changed from to Fanconi anaemia, complementation group N, MIM# 610832
Bone Marrow Failure v0.281 PALB2 Zornitza Stark Mode of inheritance for gene: PALB2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Bone Marrow Failure v0.280 KLF1 Zornitza Stark Phenotypes for gene: KLF1 were changed from to Dyserythropoietic anaemia, congenital, type IV, MIM# 613673; MONDO:0013355
Bone Marrow Failure v0.279 KLF1 Zornitza Stark Publications for gene: KLF1 were set to
Bone Marrow Failure v0.278 KLF1 Zornitza Stark Mode of inheritance for gene: KLF1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Bone Marrow Failure v0.277 KLF1 Zornitza Stark reviewed gene: KLF1: Rating: GREEN; Mode of pathogenicity: None; Publications: 21055716, 33339573, 32815883, 32221653, 32032242, 31818881; Phenotypes: Dyserythropoietic anaemia, congenital, type IV, MIM# 613673, MONDO:0013355; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Bone Marrow Failure v0.277 HAX1 Zornitza Stark Marked gene: HAX1 as ready
Bone Marrow Failure v0.277 HAX1 Zornitza Stark Gene: hax1 has been classified as Green List (High Evidence).
Bone Marrow Failure v0.277 HAX1 Zornitza Stark Phenotypes for gene: HAX1 were changed from to Neutropaenia, severe congenital 3, autosomal recessive, MIM# 610738; Kostmann syndrome MONDO:0012548
Bone Marrow Failure v0.276 HAX1 Zornitza Stark Publications for gene: HAX1 were set to
Bone Marrow Failure v0.275 HAX1 Zornitza Stark Mode of inheritance for gene: HAX1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Bone Marrow Failure v0.274 HAX1 Zornitza Stark reviewed gene: HAX1: Rating: GREEN; Mode of pathogenicity: None; Publications: 17187068, 18611981, 19036076; Phenotypes: Neutropaenia, severe congenital 3, autosomal recessive, MIM# 610738, Kostmann syndrome MONDO:0012548; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Bone Marrow Failure v0.274 NBEAL2 Zornitza Stark Marked gene: NBEAL2 as ready
Bone Marrow Failure v0.274 NBEAL2 Zornitza Stark Gene: nbeal2 has been classified as Green List (High Evidence).
Bone Marrow Failure v0.274 NBEAL2 Zornitza Stark Phenotypes for gene: NBEAL2 were changed from to Gray platelet syndrome, MIM# 139090
Bone Marrow Failure v0.273 NBEAL2 Zornitza Stark Publications for gene: NBEAL2 were set to
Bone Marrow Failure v0.272 NBEAL2 Zornitza Stark Mode of inheritance for gene: NBEAL2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Bone Marrow Failure v0.271 GFI1 Zornitza Stark Marked gene: GFI1 as ready
Bone Marrow Failure v0.271 GFI1 Zornitza Stark Gene: gfi1 has been classified as Green List (High Evidence).
Bone Marrow Failure v0.271 GFI1 Zornitza Stark Phenotypes for gene: GFI1 were changed from to Neutropaenia, severe congenital 2, autosomal dominant, MIM# 613107
Bone Marrow Failure v0.270 GFI1 Zornitza Stark Publications for gene: GFI1 were set to
Bone Marrow Failure v0.269 GFI1 Zornitza Stark Mode of inheritance for gene: GFI1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Bone Marrow Failure v0.268 GFI1 Zornitza Stark reviewed gene: GFI1: Rating: GREEN; Mode of pathogenicity: None; Publications: 12778173, 20560965, 11810106, 22684987; Phenotypes: Neutropaenia, severe congenital 2, autosomal dominant, MIM# 613107; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Bone Marrow Failure v0.268 GATA2 Zornitza Stark Marked gene: GATA2 as ready
Bone Marrow Failure v0.268 GATA2 Zornitza Stark Gene: gata2 has been classified as Green List (High Evidence).
Bone Marrow Failure v0.268 GATA2 Zornitza Stark Phenotypes for gene: GATA2 were changed from to Immunodeficiency 21, MIM# 614172; GATA2 deficiency with susceptibility to MDS/AML MONDO:0042982; Emberger syndrome, MIM# 614038; Deafness-lymphoedema-leukaemia syndrome MONDO:0013540
Bone Marrow Failure v0.267 GATA2 Zornitza Stark Publications for gene: GATA2 were set to
Bone Marrow Failure v0.266 GATA2 Zornitza Stark Mode of inheritance for gene: GATA2 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Bone Marrow Failure v0.265 GATA2 Zornitza Stark edited their review of gene: GATA2: Changed phenotypes: Immunodeficiency 21, MIM# 614172, MONDO:0042982, Emberger syndrome, MIM# 614038, MONDO:0013540
Bone Marrow Failure v0.265 GATA2 Zornitza Stark changed review comment from: This primary immunodeficiency, designated IMD21, DCML, or MONOMAC, is characterized by profoundly decreased or absent monocytes, B lymphocytes, natural killer (NK) lymphocytes, and circulating and tissue dendritic cells (DCs), with little or no effect on T-cell numbers. Clinical features of IMD21 are variable and include susceptibility to disseminated nontuberculous mycobacterial infections, papillomavirus infections, opportunistic fungal infections, and pulmonary alveolar proteinosis.

Bone marrow hypocellularity and dysplasia of myeloid, erythroid, and megakaryocytic lineages are present in most individuals, as are karyotypic abnormalities, including monosomy 7 and trisomy 8. In the absence of cytogenetic abnormalities or overt dysplasia, hypoplastic bone marrow may initially be diagnosed as aplastic anaemia.

Less common manifestations of GATA2 deficiency include lymphedema and sensorineural hearing loss, a phenotype usually termed 'Emberger syndrome'.

Over 20 unrelated individuals reported.; to: This primary immunodeficiency, designated IMD21, DCML, or MONOMAC, is characterized by profoundly decreased or absent monocytes, B lymphocytes, natural killer (NK) lymphocytes, and circulating and tissue dendritic cells (DCs), with little or no effect on T-cell numbers. Clinical features of IMD21 are variable and include susceptibility to disseminated nontuberculous mycobacterial infections, papillomavirus infections, opportunistic fungal infections, and pulmonary alveolar proteinosis.

Bone marrow hypocellularity and dysplasia of myeloid, erythroid, and megakaryocytic lineages are present in most individuals, as are karyotypic abnormalities, including monosomy 7 and trisomy 8. In the absence of cytogenetic abnormalities or overt dysplasia, hypoplastic bone marrow may initially be diagnosed as aplastic anaemia.

Less common manifestations of GATA2 deficiency include lymphoedema and sensorineural hearing loss, a phenotype usually termed 'Emberger syndrome'.

Over 20 unrelated individuals reported.
Bone Marrow Failure v0.265 GATA2 Zornitza Stark reviewed gene: GATA2: Rating: GREEN; Mode of pathogenicity: None; Publications: 21670465, 21242295, 21892158; Phenotypes: Immunodeficiency 21, MIM# 614172; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Bone Marrow Failure v0.265 GATA1 Zornitza Stark Marked gene: GATA1 as ready
Bone Marrow Failure v0.265 GATA1 Zornitza Stark Gene: gata1 has been classified as Green List (High Evidence).
Bone Marrow Failure v0.265 GATA1 Zornitza Stark Phenotypes for gene: GATA1 were changed from to Thrombocytopaenia, X-linked, with or without dyserythropoietic anaemia, MIM# 300367
Bone Marrow Failure v0.264 GATA1 Zornitza Stark Mode of inheritance for gene: GATA1 was changed from Unknown to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Bone Marrow Failure v0.263 G6PC3 Zornitza Stark edited their review of gene: G6PC3: Changed phenotypes: Neutropaenia, severe congenital 4, autosomal recessive, MIM# 612541, MONDO:0012930, Dursun syndrome, MIM# 612541
Bone Marrow Failure v0.263 G6PC3 Zornitza Stark Marked gene: G6PC3 as ready
Bone Marrow Failure v0.263 G6PC3 Zornitza Stark Gene: g6pc3 has been classified as Green List (High Evidence).
Bone Marrow Failure v0.263 G6PC3 Zornitza Stark Phenotypes for gene: G6PC3 were changed from to Neutropaenia, severe congenital 4, autosomal recessive, MIM# 612541; MONDO:0012930; Dursun syndrome, MIM# 612541
Bone Marrow Failure v0.262 G6PC3 Zornitza Stark Publications for gene: G6PC3 were set to
Bone Marrow Failure v0.261 G6PC3 Zornitza Stark Mode of inheritance for gene: G6PC3 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Bone Marrow Failure v0.260 G6PC3 Zornitza Stark reviewed gene: G6PC3: Rating: GREEN; Mode of pathogenicity: None; Publications: 19118303, 20799326, 25492228, 17318259, 20616219; Phenotypes: Neutropenia, severe congenital 4, autosomal recessive, MIM# 612541, MONDO:0012930, Dursun syndrome, MIM# 612541; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Bone Marrow Failure v0.260 FANCG Zornitza Stark Marked gene: FANCG as ready
Bone Marrow Failure v0.260 FANCG Zornitza Stark Gene: fancg has been classified as Green List (High Evidence).
Bone Marrow Failure v0.260 FANCG Zornitza Stark Phenotypes for gene: FANCG were changed from to Fanconi anaemia, complementation group G, MIM# 614082; MONDO:0013565
Bone Marrow Failure v0.259 FANCG Zornitza Stark Publications for gene: FANCG were set to
Bone Marrow Failure v0.258 FANCG Zornitza Stark Mode of inheritance for gene: FANCG was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Bone Marrow Failure v0.257 FANCF Zornitza Stark Marked gene: FANCF as ready
Bone Marrow Failure v0.257 FANCF Zornitza Stark Gene: fancf has been classified as Green List (High Evidence).
Bone Marrow Failure v0.257 FANCF Zornitza Stark Phenotypes for gene: FANCF were changed from to Fanconi anaemia, complementation group F 603467; MONDO:0011325
Bone Marrow Failure v0.256 FANCF Zornitza Stark Publications for gene: FANCF were set to
Bone Marrow Failure v0.255 FANCF Zornitza Stark Mode of inheritance for gene: FANCF was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Bone Marrow Failure v0.252 FANCB Zornitza Stark Marked gene: FANCB as ready
Bone Marrow Failure v0.252 FANCB Zornitza Stark Gene: fancb has been classified as Green List (High Evidence).
Bone Marrow Failure v0.252 FANCB Zornitza Stark Phenotypes for gene: FANCB were changed from to Fanconi anaemia, complementation group B, MIM# 300514
Bone Marrow Failure v0.251 FANCB Zornitza Stark Publications for gene: FANCB were set to
Bone Marrow Failure v0.250 FANCB Zornitza Stark Mode of inheritance for gene: FANCB was changed from Unknown to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Bone Marrow Failure v0.249 FANCB Zornitza Stark reviewed gene: FANCB: Rating: GREEN; Mode of pathogenicity: None; Publications: 15502827; Phenotypes: Fanconi anaemia, complementation group B, MIM# 300514; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Bone Marrow Failure v0.249 ELANE Zornitza Stark Marked gene: ELANE as ready
Bone Marrow Failure v0.249 ELANE Zornitza Stark Gene: elane has been classified as Green List (High Evidence).
Bone Marrow Failure v0.249 ELANE Zornitza Stark Phenotypes for gene: ELANE were changed from to Neutropaenia, severe congenital 1, autosomal dominant, MIM# 202700
Bone Marrow Failure v0.248 ELANE Zornitza Stark Publications for gene: ELANE were set to
Bone Marrow Failure v0.247 ELANE Zornitza Stark Mode of inheritance for gene: ELANE was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Bone Marrow Failure v0.246 ELANE Zornitza Stark edited their review of gene: ELANE: Changed publications: 19036076
Bone Marrow Failure v0.246 ELANE Zornitza Stark reviewed gene: ELANE: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Neutropaenia, severe congenital 1, autosomal dominant, MIM# 202700; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Bone Marrow Failure v0.246 CTC1 Zornitza Stark Marked gene: CTC1 as ready
Bone Marrow Failure v0.246 CTC1 Zornitza Stark Gene: ctc1 has been classified as Green List (High Evidence).
Bone Marrow Failure v0.246 EFL1 Zornitza Stark Marked gene: EFL1 as ready
Bone Marrow Failure v0.246 EFL1 Zornitza Stark Gene: efl1 has been classified as Green List (High Evidence).
Bone Marrow Failure v0.246 EFL1 Zornitza Stark Phenotypes for gene: EFL1 were changed from to Shwachman-Diamond syndrome 2, MIM# 617941
Bone Marrow Failure v0.245 EFL1 Zornitza Stark Publications for gene: EFL1 were set to
Bone Marrow Failure v0.244 EFL1 Zornitza Stark Mode of inheritance for gene: EFL1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Bone Marrow Failure v0.243 EFL1 Zornitza Stark reviewed gene: EFL1: Rating: GREEN; Mode of pathogenicity: None; Publications: 28331068, 31151987; Phenotypes: Shwachman-Diamond syndrome 2, MIM# 617941; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Bone Marrow Failure v0.243 CXCR4 Zornitza Stark Marked gene: CXCR4 as ready
Bone Marrow Failure v0.243 CXCR4 Zornitza Stark Gene: cxcr4 has been classified as Amber List (Moderate Evidence).
Bone Marrow Failure v0.243 CXCR4 Zornitza Stark Phenotypes for gene: CXCR4 were changed from to WHIM syndrome, MIM# 193670
Bone Marrow Failure v0.242 CXCR4 Zornitza Stark Publications for gene: CXCR4 were set to
Bone Marrow Failure v0.241 CXCR4 Zornitza Stark Mode of inheritance for gene: CXCR4 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Bone Marrow Failure v0.240 CXCR4 Zornitza Stark Classified gene: CXCR4 as Amber List (moderate evidence)
Bone Marrow Failure v0.240 CXCR4 Zornitza Stark Gene: cxcr4 has been classified as Amber List (Moderate Evidence).
Bone Marrow Failure v0.239 CXCR4 Zornitza Stark reviewed gene: CXCR4: Rating: AMBER; Mode of pathogenicity: None; Publications: 12692554; Phenotypes: WHIM syndrome, MIM# 193670; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Bone Marrow Failure v0.239 CTC1 Zornitza Stark Phenotypes for gene: CTC1 were changed from Cerebroretinal microangiopathy with calcifications and cysts, MIM# 612199 to Cerebroretinal microangiopathy with calcifications and cysts, MIM# 612199
Bone Marrow Failure v0.238 CTC1 Zornitza Stark Phenotypes for gene: CTC1 were changed from Cerebroretinal microangiopathy with calcifications and cysts, MIM# 612199 to Cerebroretinal microangiopathy with calcifications and cysts, MIM# 612199
Bone Marrow Failure v0.238 CTC1 Zornitza Stark Phenotypes for gene: CTC1 were changed from to Cerebroretinal microangiopathy with calcifications and cysts, MIM# 612199
Bone Marrow Failure v0.237 CTC1 Zornitza Stark Publications for gene: CTC1 were set to
Bone Marrow Failure v0.236 CTC1 Zornitza Stark Mode of inheritance for gene: CTC1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Bone Marrow Failure v0.235 CTC1 Zornitza Stark edited their review of gene: CTC1: Changed phenotypes: Cerebroretinal microangiopathy with calcifications and cysts, MIM# 612199
Bone Marrow Failure v0.235 CTC1 Zornitza Stark reviewed gene: CTC1: Rating: GREEN; Mode of pathogenicity: None; Publications: 22267198, 22387016; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Bone Marrow Failure v0.235 BRIP1 Zornitza Stark Marked gene: BRIP1 as ready
Bone Marrow Failure v0.235 BRIP1 Zornitza Stark Gene: brip1 has been classified as Green List (High Evidence).
Bone Marrow Failure v0.235 BRIP1 Zornitza Stark Phenotypes for gene: BRIP1 were changed from to Fanconi anaemia, complementation group J, MIM# 609054
Bone Marrow Failure v0.234 BRIP1 Zornitza Stark Publications for gene: BRIP1 were set to
Bone Marrow Failure v0.233 BRIP1 Zornitza Stark Mode of inheritance for gene: BRIP1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Bone Marrow Failure v0.232 BRIP1 Zornitza Stark reviewed gene: BRIP1: Rating: GREEN; Mode of pathogenicity: None; Publications: 27107905; Phenotypes: Fanconi anaemia, complementation group J, MIM# 609054; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Bone Marrow Failure v0.232 BRCA2 Zornitza Stark Marked gene: BRCA2 as ready
Bone Marrow Failure v0.232 BRCA2 Zornitza Stark Gene: brca2 has been classified as Green List (High Evidence).
Bone Marrow Failure v0.232 BRCA2 Zornitza Stark Phenotypes for gene: BRCA2 were changed from to Fanconi anaemia, complementation group D1, MIM# 605724
Bone Marrow Failure v0.231 BRCA2 Zornitza Stark Mode of inheritance for gene: BRCA2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Bone Marrow Failure v0.230 BRCA2 Zornitza Stark reviewed gene: BRCA2: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Fanconi anemia, complementation group D1, MIM# 605724; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Bone Marrow Failure v0.230 ANKRD26 Zornitza Stark Tag 5'UTR tag was added to gene: ANKRD26.
Bone Marrow Failure v0.230 ANKRD26 Zornitza Stark Marked gene: ANKRD26 as ready
Bone Marrow Failure v0.230 ANKRD26 Zornitza Stark Gene: ankrd26 has been classified as Green List (High Evidence).
Bone Marrow Failure v0.230 ANKRD26 Zornitza Stark Phenotypes for gene: ANKRD26 were changed from to Thrombocytopaenia 2, MIM# 188000
Bone Marrow Failure v0.229 ANKRD26 Zornitza Stark Publications for gene: ANKRD26 were set to
Bone Marrow Failure v0.228 ANKRD26 Zornitza Stark Mode of inheritance for gene: ANKRD26 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Bone Marrow Failure v0.227 ANKRD26 Zornitza Stark reviewed gene: ANKRD26: Rating: GREEN; Mode of pathogenicity: None; Publications: 21211618; Phenotypes: Thrombocytopaenia 2, MIM# 188000; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Bone Marrow Failure v0.226 AK2 Zornitza Stark Marked gene: AK2 as ready
Bone Marrow Failure v0.226 AK2 Zornitza Stark Gene: ak2 has been classified as Green List (High Evidence).
Bone Marrow Failure v0.226 AK2 Zornitza Stark Phenotypes for gene: AK2 were changed from to Reticular dysgenesis, MIM# 267500
Bone Marrow Failure v0.225 AK2 Zornitza Stark Publications for gene: AK2 were set to
Bone Marrow Failure v0.224 AK2 Zornitza Stark Mode of inheritance for gene: AK2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Bone Marrow Failure v0.223 ADA2 Zornitza Stark Marked gene: ADA2 as ready
Bone Marrow Failure v0.223 ADA2 Zornitza Stark Gene: ada2 has been classified as Green List (High Evidence).
Bone Marrow Failure v0.223 ADA2 Zornitza Stark Phenotypes for gene: ADA2 were changed from to Vasculitis, autoinflammation, immunodeficiency, and haematologic defects syndrome, MIM# 615688
Bone Marrow Failure v0.222 ADA2 Zornitza Stark Publications for gene: ADA2 were set to
Bone Marrow Failure v0.221 ADA2 Zornitza Stark Mode of inheritance for gene: ADA2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Bone Marrow Failure v0.220 ADA2 Zornitza Stark Tag founder tag was added to gene: ADA2.
Bone Marrow Failure v0.220 ADA2 Zornitza Stark reviewed gene: ADA2: Rating: GREEN; Mode of pathogenicity: None; Publications: 24552284, 24552285, 33791889; Phenotypes: Vasculitis, autoinflammation, immunodeficiency, and haematologic defects syndrome, MIM# 615688; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Bone Marrow Failure v0.220 DKC1 Zornitza Stark Marked gene: DKC1 as ready
Bone Marrow Failure v0.220 DKC1 Zornitza Stark Gene: dkc1 has been classified as Green List (High Evidence).
Bone Marrow Failure v0.220 DKC1 Zornitza Stark Phenotypes for gene: DKC1 were changed from to Dyskeratosis congenita, X-linked 305000; Hoyeraal-Hreidarsson Syndrome
Bone Marrow Failure v0.219 DKC1 Zornitza Stark Publications for gene: DKC1 were set to
Bone Marrow Failure v0.218 DKC1 Zornitza Stark Mode of inheritance for gene: DKC1 was changed from Unknown to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Bone Marrow Failure v0.217 DKC1 Zornitza Stark reviewed gene: DKC1: Rating: GREEN; Mode of pathogenicity: None; Publications: 31269755, 26951492, 29081935, 25940403; Phenotypes: Dyskeratosis congenita, X-linked 305000, Hoyeraal-Hreidarsson Syndrome; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Bone Marrow Failure v0.217 RPS17 Zornitza Stark Phenotypes for gene: RPS17 were changed from Diamond-Blackfan anemia 4, MIM# 612527 to Diamond-Blackfan anaemia 4, MIM# 612527; MONDO:0012924
Bone Marrow Failure v0.216 RPL35A Zornitza Stark Phenotypes for gene: RPL35A were changed from Diamond-Blackfan anemia 5, MIM# 612528 to Diamond-Blackfan anemia 5, MIM# 612528; MONDO:0012925
Bone Marrow Failure v0.215 RPL35A Zornitza Stark Tag SV/CNV tag was added to gene: RPL35A.
Bone Marrow Failure v0.215 FANCL Zornitza Stark Marked gene: FANCL as ready
Bone Marrow Failure v0.215 FANCL Zornitza Stark Gene: fancl has been classified as Green List (High Evidence).
Bone Marrow Failure v0.215 FANCL Zornitza Stark Phenotypes for gene: FANCL were changed from to Fanconi anemia, complementation group L, MIM# 614083; MONDO:0013566
Bone Marrow Failure v0.214 FANCL Zornitza Stark Publications for gene: FANCL were set to
Bone Marrow Failure v0.213 FANCL Zornitza Stark Mode of inheritance for gene: FANCL was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Bone Marrow Failure v0.212 FANCL Zornitza Stark reviewed gene: FANCL: Rating: GREEN; Mode of pathogenicity: None; Publications: 19405097, 25754594, 33394227, 33224012; Phenotypes: Fanconi anemia, complementation group L, MIM# 614083, MONDO:0013566; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Bone Marrow Failure v0.212 FANCI Zornitza Stark Marked gene: FANCI as ready
Bone Marrow Failure v0.212 FANCI Zornitza Stark Gene: fanci has been classified as Green List (High Evidence).
Bone Marrow Failure v0.212 FANCI Zornitza Stark Phenotypes for gene: FANCI were changed from to Fanconi anemia, complementation group I, MIM# 609053; MONDO:0012186
Bone Marrow Failure v0.211 FANCI Zornitza Stark Publications for gene: FANCI were set to
Bone Marrow Failure v0.210 FANCI Zornitza Stark Mode of inheritance for gene: FANCI was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Bone Marrow Failure v0.209 FANCI Zornitza Stark reviewed gene: FANCI: Rating: GREEN; Mode of pathogenicity: None; Publications: 17452773; Phenotypes: Fanconi anemia, complementation group I, MIM# 609053, MONDO:0012186; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Bone Marrow Failure v0.209 FANCE Zornitza Stark Marked gene: FANCE as ready
Bone Marrow Failure v0.209 FANCE Zornitza Stark Gene: fance has been classified as Green List (High Evidence).
Bone Marrow Failure v0.209 FANCE Zornitza Stark Phenotypes for gene: FANCE were changed from to Fanconi anaemia, complementation group E, MIM# 600901; MONDO:0010953
Bone Marrow Failure v0.208 FANCE Zornitza Stark Publications for gene: FANCE were set to
Bone Marrow Failure v0.207 FANCE Zornitza Stark Mode of inheritance for gene: FANCE was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Bone Marrow Failure v0.206 FANCE Zornitza Stark reviewed gene: FANCE: Rating: GREEN; Mode of pathogenicity: None; Publications: 11001585, 31586946, 7662964, 9382107, 9147877, 10205272; Phenotypes: Fanconi anaemia, complementation group E, MIM# 600901, MONDO:0010953; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Bone Marrow Failure v0.206 FANCD2 Zornitza Stark Marked gene: FANCD2 as ready
Bone Marrow Failure v0.206 FANCD2 Zornitza Stark Gene: fancd2 has been classified as Green List (High Evidence).
Bone Marrow Failure v0.206 FANCD2 Zornitza Stark Phenotypes for gene: FANCD2 were changed from to Fanconi anaemia, complementation group D2, MIM# 227646; MONDO:0009214
Bone Marrow Failure v0.205 FANCD2 Zornitza Stark Publications for gene: FANCD2 were set to
Bone Marrow Failure v0.204 FANCD2 Zornitza Stark Mode of inheritance for gene: FANCD2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Bone Marrow Failure v0.203 FANCD2 Zornitza Stark reviewed gene: FANCD2: Rating: GREEN; Mode of pathogenicity: None; Publications: 17436244; Phenotypes: Fanconi anaemia, complementation group D2, MIM# 227646, MONDO:0009214; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Bone Marrow Failure v0.203 FANCC Zornitza Stark Marked gene: FANCC as ready
Bone Marrow Failure v0.203 FANCC Zornitza Stark Gene: fancc has been classified as Green List (High Evidence).
Bone Marrow Failure v0.203 FANCC Zornitza Stark Phenotypes for gene: FANCC were changed from to Fanconi anemia, complementation group C, MIM# 227645; MONDO:0009213
Bone Marrow Failure v0.202 FANCC Zornitza Stark Publications for gene: FANCC were set to
Bone Marrow Failure v0.201 FANCC Zornitza Stark Mode of inheritance for gene: FANCC was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Bone Marrow Failure v0.200 FANCC Zornitza Stark reviewed gene: FANCC: Rating: GREEN; Mode of pathogenicity: None; Publications: 31044565, 30792206, 28717661; Phenotypes: Fanconi anemia, complementation group C, MIM# 227645, MONDO:0009213; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Bone Marrow Failure v0.200 FANCA Zornitza Stark Marked gene: FANCA as ready
Bone Marrow Failure v0.200 FANCA Zornitza Stark Gene: fanca has been classified as Green List (High Evidence).
Bone Marrow Failure v0.200 FANCA Zornitza Stark Phenotypes for gene: FANCA were changed from to Fanconi anaemia, complementation group A, MIM# 227650; MONDO:0009215
Bone Marrow Failure v0.199 FANCA Zornitza Stark Publications for gene: FANCA were set to
Bone Marrow Failure v0.198 FANCA Zornitza Stark Mode of inheritance for gene: FANCA was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Bone Marrow Failure v0.197 FANCA Zornitza Stark reviewed gene: FANCA: Rating: GREEN; Mode of pathogenicity: None; Publications: 10094191; Phenotypes: Fanconi anaemia, complementation group A, MIM# 227650, MONDO:0009215; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Bone Marrow Failure v0.197 LIG4 Zornitza Stark Phenotypes for gene: LIG4 were changed from LIG4 syndrome, MIM# 606593 to LIG4 syndrome, MIM# 606593; DNA ligase IV deficiency, MONDO:0011686
Bone Marrow Failure v0.196 RPS7 Zornitza Stark Marked gene: RPS7 as ready
Bone Marrow Failure v0.196 RPS7 Zornitza Stark Gene: rps7 has been classified as Green List (High Evidence).
Bone Marrow Failure v0.196 RPS7 Zornitza Stark Phenotypes for gene: RPS7 were changed from to Diamond-Blackfan anemia 8, MIM# 612563; MONDO:0012939
Bone Marrow Failure v0.195 RPS7 Zornitza Stark Publications for gene: RPS7 were set to
Bone Marrow Failure v0.194 RPS7 Zornitza Stark Mode of inheritance for gene: RPS7 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Bone Marrow Failure v0.193 RPS7 Zornitza Stark reviewed gene: RPS7: Rating: GREEN; Mode of pathogenicity: None; Publications: 19061985, 23718193, 27882484, 32772263; Phenotypes: Diamond-Blackfan anemia 8, MIM# 612563, MONDO:0012939; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Bone Marrow Failure v0.193 RPS26 Zornitza Stark Marked gene: RPS26 as ready
Bone Marrow Failure v0.193 RPS26 Zornitza Stark Gene: rps26 has been classified as Green List (High Evidence).
Bone Marrow Failure v0.193 RPS26 Zornitza Stark Phenotypes for gene: RPS26 were changed from to Diamond-Blackfan anemia 10, MIM# 613309; MONDO:0013217
Bone Marrow Failure v0.192 RPS26 Zornitza Stark Publications for gene: RPS26 were set to
Bone Marrow Failure v0.191 RPS26 Zornitza Stark Mode of inheritance for gene: RPS26 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Bone Marrow Failure v0.190 RPS26 Zornitza Stark reviewed gene: RPS26: Rating: GREEN; Mode of pathogenicity: None; Publications: 20116044, 23812780, 24942156; Phenotypes: Diamond-Blackfan anemia 10, MIM# 613309, MONDO:0013217; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Bone Marrow Failure v0.190 RPS24 Zornitza Stark Marked gene: RPS24 as ready
Bone Marrow Failure v0.190 RPS24 Zornitza Stark Gene: rps24 has been classified as Green List (High Evidence).
Bone Marrow Failure v0.190 RPS24 Zornitza Stark Phenotypes for gene: RPS24 were changed from to Diamond-blackfan anemia 3, MIM# 610629; MONDO:0012529
Bone Marrow Failure v0.189 RPS24 Zornitza Stark Publications for gene: RPS24 were set to
Bone Marrow Failure v0.188 RPS24 Zornitza Stark Mode of inheritance for gene: RPS24 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Bone Marrow Failure v0.187 RPS24 Zornitza Stark reviewed gene: RPS24: Rating: GREEN; Mode of pathogenicity: None; Publications: 17186470, 23812780, 25946618; Phenotypes: Diamond-blackfan anemia 3, MIM# 610629, MONDO:0012529; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Bone Marrow Failure v0.187 RPS19 Zornitza Stark Marked gene: RPS19 as ready
Bone Marrow Failure v0.187 RPS19 Zornitza Stark Gene: rps19 has been classified as Green List (High Evidence).
Bone Marrow Failure v0.187 RPS19 Zornitza Stark Phenotypes for gene: RPS19 were changed from to Diamond-Blackfan anemia 1, MIM# 105650; MONDO:0007110
Bone Marrow Failure v0.186 RPS19 Zornitza Stark Publications for gene: RPS19 were set to
Bone Marrow Failure v0.185 RPS19 Zornitza Stark Mode of inheritance for gene: RPS19 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Bone Marrow Failure v0.184 RPS19 Zornitza Stark reviewed gene: RPS19: Rating: GREEN; Mode of pathogenicity: None; Publications: 9988267, 10590074; Phenotypes: Diamond-Blackfan anemia 1, MIM# 105650; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Bone Marrow Failure v0.184 RPL35A Zornitza Stark Marked gene: RPL35A as ready
Bone Marrow Failure v0.184 RPL35A Zornitza Stark Gene: rpl35a has been classified as Green List (High Evidence).
Bone Marrow Failure v0.184 RPL35A Zornitza Stark Phenotypes for gene: RPL35A were changed from to Diamond-Blackfan anemia 5, MIM# 612528
Bone Marrow Failure v0.183 RPL35A Zornitza Stark Publications for gene: RPL35A were set to
Bone Marrow Failure v0.182 RPL35A Zornitza Stark Mode of inheritance for gene: RPL35A was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Bone Marrow Failure v0.181 RPL35A Zornitza Stark reviewed gene: RPL35A: Rating: GREEN; Mode of pathogenicity: None; Publications: 18535205, 32241839; Phenotypes: Diamond-Blackfan anemia 5, MIM# 612528; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Bone Marrow Failure v0.181 RPL27 Zornitza Stark Marked gene: RPL27 as ready
Bone Marrow Failure v0.181 RPL27 Zornitza Stark Gene: rpl27 has been classified as Red List (Low Evidence).
Bone Marrow Failure v0.181 RPL27 Zornitza Stark Phenotypes for gene: RPL27 were changed from to Diamond-Blackfan anemia 16, MIM# 617408
Bone Marrow Failure v0.180 RPL27 Zornitza Stark Publications for gene: RPL27 were set to
Bone Marrow Failure v0.179 RPL27 Zornitza Stark Mode of inheritance for gene: RPL27 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Bone Marrow Failure v0.178 RPL27 Zornitza Stark Classified gene: RPL27 as Red List (low evidence)
Bone Marrow Failure v0.178 RPL27 Zornitza Stark Gene: rpl27 has been classified as Red List (Low Evidence).
Bone Marrow Failure v0.177 RPL27 Zornitza Stark reviewed gene: RPL27: Rating: RED; Mode of pathogenicity: None; Publications: 25424902; Phenotypes: Diamond-Blackfan anemia 16, MIM# 617408; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Bone Marrow Failure v0.177 RPL11 Zornitza Stark Marked gene: RPL11 as ready
Bone Marrow Failure v0.177 RPL11 Zornitza Stark Gene: rpl11 has been classified as Green List (High Evidence).
Bone Marrow Failure v0.177 RPL11 Zornitza Stark Phenotypes for gene: RPL11 were changed from to Diamond-Blackfan anemia 7, MIM# 612562; MONDO:0012938
Bone Marrow Failure v0.176 RPL11 Zornitza Stark Publications for gene: RPL11 were set to
Bone Marrow Failure v0.175 RPL11 Zornitza Stark Mode of inheritance for gene: RPL11 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Bone Marrow Failure v0.174 RPL11 Zornitza Stark reviewed gene: RPL11: Rating: GREEN; Mode of pathogenicity: None; Publications: 19061985; Phenotypes: Diamond-Blackfan anemia 7, MIM# 612562, MONDO:0012938; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Bone Marrow Failure v0.174 TLR8 Zornitza Stark Marked gene: TLR8 as ready
Bone Marrow Failure v0.174 TLR8 Zornitza Stark Gene: tlr8 has been classified as Green List (High Evidence).
Bone Marrow Failure v0.174 TLR8 Zornitza Stark Classified gene: TLR8 as Green List (high evidence)
Bone Marrow Failure v0.174 TLR8 Zornitza Stark Gene: tlr8 has been classified as Green List (High Evidence).
Bone Marrow Failure v0.173 TLR8 Zornitza Stark gene: TLR8 was added
gene: TLR8 was added to Bone Marrow Failure. Sources: Literature
somatic tags were added to gene: TLR8.
Mode of inheritance for gene: TLR8 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Publications for gene: TLR8 were set to 33512449
Phenotypes for gene: TLR8 were set to Immunodeficiency; bone marrow failure
Mode of pathogenicity for gene: TLR8 was set to Other
Review for gene: TLR8 was set to GREEN
Added comment: Six unrelated males reported with a phenotype comprising neutropaenia, infections, lymphoproliferation, humoral immune defects, and in some cases bone marrow failure. Three different variants reported, the variant was somatic in 5/6 individuals. GoF mechanism demonstrated.
Sources: Literature
Bone Marrow Failure v0.172 ADH5 Zornitza Stark Phenotypes for gene: ADH5 were changed from Aplastic anaemia; myelodysplasia; short stature to AMED syndrome, digenic, MIM# 619151; Aplastic anaemia; myelodysplasia; short stature
Bone Marrow Failure v0.171 ADH5 Zornitza Stark edited their review of gene: ADH5: Changed phenotypes: AMED syndrome, digenic, MIM# 619151, Aplastic anaemia, myelodysplasia, short stature
Bone Marrow Failure v0.171 ADH5 Zornitza Stark Marked gene: ADH5 as ready
Bone Marrow Failure v0.171 ADH5 Zornitza Stark Gene: adh5 has been classified as Green List (High Evidence).
Bone Marrow Failure v0.171 ADH5 Zornitza Stark Classified gene: ADH5 as Green List (high evidence)
Bone Marrow Failure v0.171 ADH5 Zornitza Stark Gene: adh5 has been classified as Green List (High Evidence).
Bone Marrow Failure v0.170 ADH5 Zornitza Stark gene: ADH5 was added
gene: ADH5 was added to Bone Marrow Failure. Sources: Literature
Mode of inheritance for gene: ADH5 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ADH5 were set to 33147438
Phenotypes for gene: ADH5 were set to Aplastic anaemia; myelodysplasia; short stature
Review for gene: ADH5 was set to GREEN
Added comment: 7 individuals reported with bi-allelic variants in this gene and a Fanconi syndrome-like phenotype. All had aplastic anaemia, 4 developed a myelodysplastic syndrome, and one developed AML. Short stature and abnormal skin pigmentation were additional features.

Note, all also had the ALDH2*2 allele, which is common in East Asian populations, and may be contributory.

Extensive experimental data.
Sources: Literature
Bone Marrow Failure v0.169 STN1 Zornitza Stark Publications for gene: STN1 were set to 27432940
Bone Marrow Failure v0.168 STN1 Zornitza Stark Marked gene: STN1 as ready
Bone Marrow Failure v0.168 STN1 Zornitza Stark Added comment: Comment when marking as ready: Promoted to Green, highly specific constellation of features.
Bone Marrow Failure v0.168 STN1 Zornitza Stark Gene: stn1 has been classified as Green List (High Evidence).
Bone Marrow Failure v0.168 STN1 Zornitza Stark Classified gene: STN1 as Green List (high evidence)
Bone Marrow Failure v0.168 STN1 Zornitza Stark Gene: stn1 has been classified as Green List (High Evidence).
Bone Marrow Failure v0.167 STN1 Sue White reviewed gene: STN1: Rating: GREEN; Mode of pathogenicity: None; Publications: 32627942; Phenotypes: Coats-plus syndrome, intracranial calcification, retinal telangiactasia, bone marrow failure; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Bone Marrow Failure v0.167 RPL9 Zornitza Stark Publications for gene: RPL9 were set to 29114930; 20116044
Bone Marrow Failure v0.166 RPL9 Zornitza Stark Classified gene: RPL9 as Amber List (moderate evidence)
Bone Marrow Failure v0.166 RPL9 Zornitza Stark Gene: rpl9 has been classified as Amber List (Moderate Evidence).
Bone Marrow Failure v0.165 RPL9 Zornitza Stark edited their review of gene: RPL9: Added comment: New publication, second individual reported with same c.-2+1G>C variant in the 5′UTR of RPL9, deleterious effect demonstrated, functional data, upgrade to Amber:

PMID: 31799629 (2020) - Female infant diagnosed with Diamond-Blackfan anaemia carrying a de novo variant (c.-2+1G>C) in the 5′UTR of RPL9, predicted to affect the donor splice site of exon 1. Phenotypic overlap can be seen with the previously reported case with the same variant, including colitis, thumb anomaly, and microcephaly. Functional studies showed the variant impairs processing of pre-rRNA during ribosome biogenesis, stabilises TP53 and impairs the proliferation and differentiation of erythroid cells. Zebrafish models of RPL9 LoF recapitulate the anaemia phenotype.; Changed rating: AMBER; Changed publications: 29114930, 20116044, 31799629
Bone Marrow Failure v0.165 RPS20 Zornitza Stark Marked gene: RPS20 as ready
Bone Marrow Failure v0.165 RPS20 Zornitza Stark Gene: rps20 has been classified as Amber List (Moderate Evidence).
Bone Marrow Failure v0.165 RPS20 Zornitza Stark Classified gene: RPS20 as Amber List (moderate evidence)
Bone Marrow Failure v0.165 RPS20 Zornitza Stark Gene: rps20 has been classified as Amber List (Moderate Evidence).
Bone Marrow Failure v0.164 RPS20 Zornitza Stark gene: RPS20 was added
gene: RPS20 was added to Bone Marrow Failure. Sources: Literature
Mode of inheritance for gene: RPS20 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: RPS20 were set to 32790018
Phenotypes for gene: RPS20 were set to Diamond Blackfan anaemia
Review for gene: RPS20 was set to AMBER
Added comment: Two unrelated cases where a de novo variant involving Ile84 (Ile84Ser and Ile84Asn), and reduce the RPS20 protein level in patient cells. Yeast models with mutation of the cognate residue resulted in defects in growth, ribosome biogenesis, and polysome formation. Loss of function may not be the mechanism of disease, because loss of function variants appear to be exclusively associated with familial colorectal cancer without the DBA phenotype.
Sources: Literature
Bone Marrow Failure v0.163 C15orf41 Zornitza Stark Marked gene: C15orf41 as ready
Bone Marrow Failure v0.163 C15orf41 Zornitza Stark Gene: c15orf41 has been classified as Green List (High Evidence).
Bone Marrow Failure v0.163 C15orf41 Zornitza Stark Classified gene: C15orf41 as Green List (high evidence)
Bone Marrow Failure v0.163 C15orf41 Zornitza Stark Gene: c15orf41 has been classified as Green List (High Evidence).
Bone Marrow Failure v0.162 C15orf41 Zornitza Stark gene: C15orf41 was added
gene: C15orf41 was added to Bone Marrow Failure. Sources: Expert list
Mode of inheritance for gene: C15orf41 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: C15orf41 were set to 23716552; 32293259; 31191338; 29885034
Phenotypes for gene: C15orf41 were set to Dyserythropoietic anemia, congenital, type Ib, MIM# 615631
Review for gene: C15orf41 was set to GREEN
Added comment: At least 6 families reported, functional data.
Sources: Expert list
Bone Marrow Failure v0.161 XRCC2 Zornitza Stark Marked gene: XRCC2 as ready
Bone Marrow Failure v0.161 XRCC2 Zornitza Stark Gene: xrcc2 has been classified as Amber List (Moderate Evidence).
Bone Marrow Failure v0.161 XRCC2 Zornitza Stark Phenotypes for gene: XRCC2 were changed from to Fanconi anemia, complementation group U, MIM# 617247
Bone Marrow Failure v0.160 XRCC2 Zornitza Stark Publications for gene: XRCC2 were set to
Bone Marrow Failure v0.159 XRCC2 Zornitza Stark Mode of inheritance for gene: XRCC2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Bone Marrow Failure v0.158 XRCC2 Zornitza Stark Classified gene: XRCC2 as Amber List (moderate evidence)
Bone Marrow Failure v0.158 XRCC2 Zornitza Stark Gene: xrcc2 has been classified as Amber List (Moderate Evidence).
Bone Marrow Failure v0.157 XRCC2 Zornitza Stark reviewed gene: XRCC2: Rating: AMBER; Mode of pathogenicity: None; Publications: 27208205, 22232082, 11118202; Phenotypes: Fanconi anemia, complementation group U, MIM# 617247; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Bone Marrow Failure v0.157 WIPF1 Zornitza Stark Marked gene: WIPF1 as ready
Bone Marrow Failure v0.157 WIPF1 Zornitza Stark Gene: wipf1 has been classified as Green List (High Evidence).
Bone Marrow Failure v0.157 WIPF1 Zornitza Stark Classified gene: WIPF1 as Green List (high evidence)
Bone Marrow Failure v0.157 WIPF1 Zornitza Stark Gene: wipf1 has been classified as Green List (High Evidence).
Bone Marrow Failure v0.156 WIPF1 Zornitza Stark gene: WIPF1 was added
gene: WIPF1 was added to Bone Marrow Failure. Sources: Expert list
Mode of inheritance for gene: WIPF1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: WIPF1 were set to 27742395; 11869681; 22231303; 14757742; 9405671
Phenotypes for gene: WIPF1 were set to Wiskott-Aldrich syndrome 2, MIM# 614493
Review for gene: WIPF1 was set to GREEN
Added comment: Two unrelated families reported, one with 4 affected individuals. Extensive functional data.
Sources: Expert list
Bone Marrow Failure v0.155 TSR2 Zornitza Stark Marked gene: TSR2 as ready
Bone Marrow Failure v0.155 TSR2 Zornitza Stark Gene: tsr2 has been classified as Red List (Low Evidence).
Bone Marrow Failure v0.155 TSR2 Zornitza Stark Phenotypes for gene: TSR2 were changed from to Diamond-Blackfan anemia 14 with mandibulofacial dysostosis, MIM# 300946
Bone Marrow Failure v0.154 TSR2 Zornitza Stark Publications for gene: TSR2 were set to
Bone Marrow Failure v0.154 TSR2 Zornitza Stark Mode of inheritance for gene: TSR2 was changed from Unknown to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Bone Marrow Failure v0.153 TSR2 Zornitza Stark Classified gene: TSR2 as Red List (low evidence)
Bone Marrow Failure v0.153 TSR2 Zornitza Stark Gene: tsr2 has been classified as Red List (Low Evidence).
Bone Marrow Failure v0.152 TSR2 Zornitza Stark reviewed gene: TSR2: Rating: RED; Mode of pathogenicity: None; Publications: 24942156; Phenotypes: Diamond-Blackfan anemia 14 with mandibulofacial dysostosis, MIM# 300946; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Bone Marrow Failure v0.152 SRP72 Zornitza Stark Marked gene: SRP72 as ready
Bone Marrow Failure v0.152 SRP72 Zornitza Stark Gene: srp72 has been classified as Amber List (Moderate Evidence).
Bone Marrow Failure v0.152 SRP72 Zornitza Stark Phenotypes for gene: SRP72 were changed from to Bone marrow failure syndrome 1, MIM# 614675
Bone Marrow Failure v0.151 SRP72 Zornitza Stark Publications for gene: SRP72 were set to
Bone Marrow Failure v0.150 SRP72 Zornitza Stark Mode of inheritance for gene: SRP72 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Bone Marrow Failure v0.149 SRP72 Zornitza Stark Classified gene: SRP72 as Amber List (moderate evidence)
Bone Marrow Failure v0.149 SRP72 Zornitza Stark Gene: srp72 has been classified as Amber List (Moderate Evidence).
Bone Marrow Failure v0.148 SRP72 Zornitza Stark Tag disputed tag was added to gene: SRP72.
Bone Marrow Failure v0.148 SRP72 Zornitza Stark reviewed gene: SRP72: Rating: AMBER; Mode of pathogenicity: None; Publications: 22541560, 31254415; Phenotypes: Bone marrow failure syndrome 1, MIM# 614675; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Bone Marrow Failure v0.148 SMARCAL1 Zornitza Stark Marked gene: SMARCAL1 as ready
Bone Marrow Failure v0.148 SMARCAL1 Zornitza Stark Gene: smarcal1 has been classified as Green List (High Evidence).
Bone Marrow Failure v0.148 SMARCAL1 Zornitza Stark Phenotypes for gene: SMARCAL1 were changed from to Schimke immunoosseous dysplasia, MIM# 242900
Bone Marrow Failure v0.147 SMARCAL1 Zornitza Stark Publications for gene: SMARCAL1 were set to
Bone Marrow Failure v0.146 SMARCAL1 Zornitza Stark Mode of inheritance for gene: SMARCAL1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Bone Marrow Failure v0.145 SMARCAL1 Zornitza Stark reviewed gene: SMARCAL1: Rating: GREEN; Mode of pathogenicity: None; Publications: 11799392, 17089404; Phenotypes: Schimke immunoosseous dysplasia, MIM# 242900; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Bone Marrow Failure v0.145 SLX4 Zornitza Stark Marked gene: SLX4 as ready
Bone Marrow Failure v0.145 SLX4 Zornitza Stark Gene: slx4 has been classified as Green List (High Evidence).
Bone Marrow Failure v0.145 SLX4 Zornitza Stark Phenotypes for gene: SLX4 were changed from to Fanconi anemia, complementation group P, MIM# 613951
Bone Marrow Failure v0.144 SLX4 Zornitza Stark Publications for gene: SLX4 were set to
Bone Marrow Failure v0.143 SLX4 Zornitza Stark Mode of inheritance for gene: SLX4 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Bone Marrow Failure v0.142 SLX4 Zornitza Stark reviewed gene: SLX4: Rating: GREEN; Mode of pathogenicity: None; Publications: 21240275, 21240277; Phenotypes: Fanconi anemia, complementation group P, MIM# 613951; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Bone Marrow Failure v0.142 SLC37A4 Zornitza Stark Marked gene: SLC37A4 as ready
Bone Marrow Failure v0.142 SLC37A4 Zornitza Stark Gene: slc37a4 has been classified as Green List (High Evidence).
Bone Marrow Failure v0.142 SLC37A4 Zornitza Stark Phenotypes for gene: SLC37A4 were changed from to Glycogen storage disease Ib, MIM# 232220
Bone Marrow Failure v0.141 SLC37A4 Zornitza Stark Publications for gene: SLC37A4 were set to
Bone Marrow Failure v0.140 SLC37A4 Zornitza Stark Mode of inheritance for gene: SLC37A4 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Bone Marrow Failure v0.139 SLC37A4 Zornitza Stark reviewed gene: SLC37A4: Rating: GREEN; Mode of pathogenicity: None; Publications: 31788408, 31536830; Phenotypes: Glycogen storage disease Ib, MIM# 232220; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Bone Marrow Failure v0.139 SLC25A38 Zornitza Stark Marked gene: SLC25A38 as ready
Bone Marrow Failure v0.139 SLC25A38 Zornitza Stark Gene: slc25a38 has been classified as Green List (High Evidence).
Bone Marrow Failure v0.139 SLC25A38 Zornitza Stark Phenotypes for gene: SLC25A38 were changed from to Anemia, sideroblastic, 2, pyridoxine-refractory, MIM# 205950
Bone Marrow Failure v0.138 SLC25A38 Zornitza Stark Publications for gene: SLC25A38 were set to
Bone Marrow Failure v0.137 SLC25A38 Zornitza Stark Mode of inheritance for gene: SLC25A38 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Bone Marrow Failure v0.136 SLC25A38 Zornitza Stark reviewed gene: SLC25A38: Rating: GREEN; Mode of pathogenicity: None; Publications: 19412178; Phenotypes: Anemia, sideroblastic, 2, pyridoxine-refractory, MIM# 205950; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Bone Marrow Failure v0.136 SLC19A2 Zornitza Stark Marked gene: SLC19A2 as ready
Bone Marrow Failure v0.136 SLC19A2 Zornitza Stark Gene: slc19a2 has been classified as Green List (High Evidence).
Bone Marrow Failure v0.136 SLC19A2 Zornitza Stark Phenotypes for gene: SLC19A2 were changed from to Thiamine-responsive megaloblastic anemia syndrome, MIM# 249270
Bone Marrow Failure v0.135 SLC19A2 Zornitza Stark Publications for gene: SLC19A2 were set to
Bone Marrow Failure v0.134 SLC19A2 Zornitza Stark Mode of inheritance for gene: SLC19A2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Bone Marrow Failure v0.133 SLC19A2 Zornitza Stark reviewed gene: SLC19A2: Rating: GREEN; Mode of pathogenicity: None; Publications: 10391221, 10978358; Phenotypes: Thiamine-responsive megaloblastic anemia syndrome, MIM# 249270; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Bone Marrow Failure v0.133 SEC23B Zornitza Stark Marked gene: SEC23B as ready
Bone Marrow Failure v0.133 SEC23B Zornitza Stark Gene: sec23b has been classified as Green List (High Evidence).
Bone Marrow Failure v0.133 SEC23B Zornitza Stark Phenotypes for gene: SEC23B were changed from to Dyserythropoietic anemia, congenital, type II , MIM#224100
Bone Marrow Failure v0.132 SEC23B Zornitza Stark Publications for gene: SEC23B were set to
Bone Marrow Failure v0.131 SEC23B Zornitza Stark Mode of inheritance for gene: SEC23B was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Bone Marrow Failure v0.130 SEC23B Zornitza Stark reviewed gene: SEC23B: Rating: GREEN; Mode of pathogenicity: None; Publications: 19561605, 19621418; Phenotypes: Dyserythropoietic anemia, congenital, type II , MIM#224100; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Bone Marrow Failure v0.130 RUNX1 Zornitza Stark Marked gene: RUNX1 as ready
Bone Marrow Failure v0.130 RUNX1 Zornitza Stark Gene: runx1 has been classified as Green List (High Evidence).
Bone Marrow Failure v0.130 RUNX1 Zornitza Stark Phenotypes for gene: RUNX1 were changed from to Platelet disorder, familial, with associated myeloid malignancy, MIM# 601399
Bone Marrow Failure v0.129 RUNX1 Zornitza Stark Publications for gene: RUNX1 were set to
Bone Marrow Failure v0.128 RUNX1 Zornitza Stark Mode of inheritance for gene: RUNX1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Bone Marrow Failure v0.127 RUNX1 Zornitza Stark reviewed gene: RUNX1: Rating: GREEN; Mode of pathogenicity: None; Publications: 10508512, 11830488; Phenotypes: Platelet disorder, familial, with associated myeloid malignancy, MIM# 601399; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Bone Marrow Failure v0.127 RPS27 Zornitza Stark Marked gene: RPS27 as ready
Bone Marrow Failure v0.127 RPS27 Zornitza Stark Gene: rps27 has been classified as Red List (Low Evidence).
Bone Marrow Failure v0.127 RPS27 Zornitza Stark Phenotypes for gene: RPS27 were changed from to Diamond-Blackfan anemia 17, MIM# 617409
Bone Marrow Failure v0.126 RPS27 Zornitza Stark Publications for gene: RPS27 were set to
Bone Marrow Failure v0.125 RPS27 Zornitza Stark Mode of inheritance for gene: RPS27 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Bone Marrow Failure v0.124 RPS27 Zornitza Stark Classified gene: RPS27 as Red List (low evidence)
Bone Marrow Failure v0.124 RPS27 Zornitza Stark Gene: rps27 has been classified as Red List (Low Evidence).
Bone Marrow Failure v0.123 RPS27 Zornitza Stark reviewed gene: RPS27: Rating: RED; Mode of pathogenicity: None; Publications: 25424902; Phenotypes: Diamond-Blackfan anemia 17, MIM# 617409; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Bone Marrow Failure v0.123 RPS17 Zornitza Stark Marked gene: RPS17 as ready
Bone Marrow Failure v0.123 RPS17 Zornitza Stark Gene: rps17 has been classified as Green List (High Evidence).
Bone Marrow Failure v0.123 RPS17 Zornitza Stark Classified gene: RPS17 as Green List (high evidence)
Bone Marrow Failure v0.123 RPS17 Zornitza Stark Gene: rps17 has been classified as Green List (High Evidence).
Bone Marrow Failure v0.122 RPS17 Zornitza Stark gene: RPS17 was added
gene: RPS17 was added to Bone Marrow Failure. Sources: Expert list
Mode of inheritance for gene: RPS17 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: RPS17 were set to 17647292; 19061985; 23812780; 23718193
Phenotypes for gene: RPS17 were set to Diamond-Blackfan anemia 4, MIM# 612527
Review for gene: RPS17 was set to GREEN
Added comment: Diamond-Blackfan anemia (DBA) is an inherited red blood cell aplasia that usually presents in the first year of life. The main features are normochromic macrocytic anaemia, reticulocytopaenia, and nearly absent erythroid progenitors in the bone marrow. Individuals show growth retardation, and approximately 30 to 50% have craniofacial, upper limb, heart, and urinary system congenital malformations. The majority have increased mean corpuscular volume, elevated erythrocyte adenosine deaminase activity, and persistence of haemoglobin F. However, some do not exhibit these findings, and even in the same family, symptoms can vary between affected family members. At least 5 families reported with variants in this gene.
Sources: Expert list
Bone Marrow Failure v0.121 RPL9 Zornitza Stark Marked gene: RPL9 as ready
Bone Marrow Failure v0.121 RPL9 Zornitza Stark Gene: rpl9 has been classified as Red List (Low Evidence).
Bone Marrow Failure v0.121 RPL9 Zornitza Stark gene: RPL9 was added
gene: RPL9 was added to Bone Marrow Failure. Sources: Expert list
Mode of inheritance for gene: RPL9 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: RPL9 were set to 29114930; 20116044
Phenotypes for gene: RPL9 were set to Diamond Blackfan anaemia
Review for gene: RPL9 was set to RED
Added comment: PMID: 29114930, de novo splice site variant, c.-2+1G>C, functional impact of this variant is likely deleterious but not proven. Inherited missense variant reported in PMID 20116044, p.Arg125Ser is present in 31 hets in gnomad.
Sources: Expert list
Bone Marrow Failure v0.120 RPL31 Zornitza Stark Marked gene: RPL31 as ready
Bone Marrow Failure v0.120 RPL31 Zornitza Stark Gene: rpl31 has been classified as Amber List (Moderate Evidence).
Bone Marrow Failure v0.120 RPL31 Zornitza Stark Classified gene: RPL31 as Amber List (moderate evidence)
Bone Marrow Failure v0.120 RPL31 Zornitza Stark Gene: rpl31 has been classified as Amber List (Moderate Evidence).
Bone Marrow Failure v0.119 RPL31 Zornitza Stark gene: RPL31 was added
gene: RPL31 was added to Bone Marrow Failure. Sources: Expert list
Mode of inheritance for gene: RPL31 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: RPL31 were set to 25042156; 25424902
Phenotypes for gene: RPL31 were set to Diamond Blackfan anaemia
Review for gene: RPL31 was set to AMBER
Added comment: Three individuals reported with DBA phenotype and variants in this gene: one with a large, multi-gene deletion which is de novo. One with a de novo splice site variant that does not disrupt the coding sequence, but is predicted to generate 2 open-reading frames (ORF) upstream of the RPL31 ORF and was thus postulated to impair translation of RPL31 mRNA (arguably a VOUS). The third individual was reported in PMID 25042156 with a missense variant, no segregation or functional data available, this variant is a VOUS.
Sources: Expert list
Bone Marrow Failure v0.118 PUS1 Zornitza Stark Marked gene: PUS1 as ready
Bone Marrow Failure v0.118 PUS1 Zornitza Stark Gene: pus1 has been classified as Green List (High Evidence).
Bone Marrow Failure v0.118 PUS1 Zornitza Stark Phenotypes for gene: PUS1 were changed from to Myopathy, lactic acidosis, and sideroblastic anemia 1, MIM# 600462
Bone Marrow Failure v0.117 PUS1 Zornitza Stark Publications for gene: PUS1 were set to
Bone Marrow Failure v0.116 PUS1 Zornitza Stark Mode of inheritance for gene: PUS1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Bone Marrow Failure v0.115 PUS1 Zornitza Stark reviewed gene: PUS1: Rating: GREEN; Mode of pathogenicity: None; Publications: 25227147, 17056637, 15108122, 32287105, 31641589, 28832011; Phenotypes: Myopathy, lactic acidosis, and sideroblastic anemia 1, MIM# 600462; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Bone Marrow Failure v0.115 PSTPIP1 Zornitza Stark Marked gene: PSTPIP1 as ready
Bone Marrow Failure v0.115 PSTPIP1 Zornitza Stark Gene: pstpip1 has been classified as Green List (High Evidence).
Bone Marrow Failure v0.115 PSTPIP1 Zornitza Stark Phenotypes for gene: PSTPIP1 were changed from to Pyogenic sterile arthritis, pyoderma gangrenosum, and acne, MIM# 604416
Bone Marrow Failure v0.114 PSTPIP1 Zornitza Stark Mode of inheritance for gene: PSTPIP1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Bone Marrow Failure v0.113 PSTPIP1 Zornitza Stark reviewed gene: PSTPIP1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Pyogenic sterile arthritis, pyoderma gangrenosum, and acne, MIM# 604416; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Bone Marrow Failure v0.113 NPM1 Zornitza Stark reviewed gene: NPM1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Dyskeratosis congenita; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Bone Marrow Failure v0.113 NHP2 Zornitza Stark Marked gene: NHP2 as ready
Bone Marrow Failure v0.113 NHP2 Zornitza Stark Gene: nhp2 has been classified as Green List (High Evidence).
Bone Marrow Failure v0.113 NHP2 Zornitza Stark Phenotypes for gene: NHP2 were changed from to Dyskeratosis congenita, autosomal recessive 2, MIM# 613987
Bone Marrow Failure v0.112 NHP2 Zornitza Stark Publications for gene: NHP2 were set to
Bone Marrow Failure v0.111 NHP2 Zornitza Stark Mode of inheritance for gene: NHP2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Bone Marrow Failure v0.110 NHP2 Zornitza Stark edited their review of gene: NHP2: Changed rating: GREEN; Changed mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Bone Marrow Failure v0.110 NHP2 Zornitza Stark reviewed gene: NHP2: Rating: ; Mode of pathogenicity: None; Publications: 18523010, 31985013; Phenotypes: Dyskeratosis congenita, autosomal recessive 2, MIM# 613987; Mode of inheritance: None
Bone Marrow Failure v0.110 MYH9 Zornitza Stark Marked gene: MYH9 as ready
Bone Marrow Failure v0.110 MYH9 Zornitza Stark Gene: myh9 has been classified as Green List (High Evidence).
Bone Marrow Failure v0.110 MYH9 Zornitza Stark Phenotypes for gene: MYH9 were changed from to Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss, MIM# 155100
Bone Marrow Failure v0.109 MYH9 Zornitza Stark Publications for gene: MYH9 were set to
Bone Marrow Failure v0.108 MYH9 Zornitza Stark Mode of inheritance for gene: MYH9 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Bone Marrow Failure v0.107 MYH9 Zornitza Stark reviewed gene: MYH9: Rating: GREEN; Mode of pathogenicity: None; Publications: 10973259, 10973260; Phenotypes: Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss, MIM# 155100; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Bone Marrow Failure v0.107 LIG4 Zornitza Stark Marked gene: LIG4 as ready
Bone Marrow Failure v0.107 LIG4 Zornitza Stark Gene: lig4 has been classified as Green List (High Evidence).
Bone Marrow Failure v0.107 LIG4 Zornitza Stark Phenotypes for gene: LIG4 were changed from to LIG4 syndrome, MIM# 606593
Bone Marrow Failure v0.106 LIG4 Zornitza Stark Publications for gene: LIG4 were set to
Bone Marrow Failure v0.105 LIG4 Zornitza Stark Mode of inheritance for gene: LIG4 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Bone Marrow Failure v0.104 LIG4 Zornitza Stark reviewed gene: LIG4: Rating: GREEN; Mode of pathogenicity: None; Publications: 11779494, 16088910, 15333585, 20133615; Phenotypes: LIG4 syndrome, MIM# 606593; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Bone Marrow Failure v0.104 KIF23 Zornitza Stark Marked gene: KIF23 as ready
Bone Marrow Failure v0.104 KIF23 Zornitza Stark Gene: kif23 has been classified as Red List (Low Evidence).
Bone Marrow Failure v0.104 KIF23 Zornitza Stark gene: KIF23 was added
gene: KIF23 was added to Bone Marrow Failure. Sources: Expert list
Mode of inheritance for gene: KIF23 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: KIF23 were set to 23570799
Phenotypes for gene: KIF23 were set to Congenital dyserythropoietic anemia type III
Review for gene: KIF23 was set to RED
Added comment: Single family reported only.
Sources: Expert list
Bone Marrow Failure v0.103 HOXA11 Zornitza Stark Publications for gene: HOXA11 were set to 11101832
Bone Marrow Failure v0.102 HOXA11 Zornitza Stark edited their review of gene: HOXA11: Changed publications: 11101832, 16765069
Bone Marrow Failure v0.102 HOXA11 Zornitza Stark Marked gene: HOXA11 as ready
Bone Marrow Failure v0.102 HOXA11 Zornitza Stark Gene: hoxa11 has been classified as Amber List (Moderate Evidence).
Bone Marrow Failure v0.102 HOXA11 Zornitza Stark Phenotypes for gene: HOXA11 were changed from to Radioulnar synostosis with amegakaryocytic thrombocytopenia 1, MIM# 605432
Bone Marrow Failure v0.101 HOXA11 Zornitza Stark Publications for gene: HOXA11 were set to
Bone Marrow Failure v0.100 HOXA11 Zornitza Stark Mode of inheritance for gene: HOXA11 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Bone Marrow Failure v0.99 HOXA11 Zornitza Stark Classified gene: HOXA11 as Amber List (moderate evidence)
Bone Marrow Failure v0.99 HOXA11 Zornitza Stark Gene: hoxa11 has been classified as Amber List (Moderate Evidence).
Bone Marrow Failure v0.98 HOXA11 Zornitza Stark reviewed gene: HOXA11: Rating: AMBER; Mode of pathogenicity: None; Publications: 11101832; Phenotypes: Radioulnar synostosis with amegakaryocytic thrombocytopenia 1, MIM# 605432; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Bone Marrow Failure v0.98 Zornitza Stark removed gene:GP1BA from the panel
Bone Marrow Failure v0.97 GLRX5 Zornitza Stark Marked gene: GLRX5 as ready
Bone Marrow Failure v0.97 GLRX5 Zornitza Stark Gene: glrx5 has been classified as Green List (High Evidence).
Bone Marrow Failure v0.97 GLRX5 Zornitza Stark Phenotypes for gene: GLRX5 were changed from to Anaemia, sideroblastic, 3, pyridoxine-refractory, MIM# 616860
Bone Marrow Failure v0.96 GLRX5 Zornitza Stark Publications for gene: GLRX5 were set to
Bone Marrow Failure v0.95 GLRX5 Zornitza Stark Mode of inheritance for gene: GLRX5 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Bone Marrow Failure v0.94 GLRX5 Zornitza Stark reviewed gene: GLRX5: Rating: GREEN; Mode of pathogenicity: None; Publications: 17485548, 25342667, 30660387; Phenotypes: Anaemia, sideroblastic, 3, pyridoxine-refractory, MIM# 616860; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Bone Marrow Failure v0.94 FECH Zornitza Stark Marked gene: FECH as ready
Bone Marrow Failure v0.94 FECH Zornitza Stark Gene: fech has been classified as Red List (Low Evidence).
Bone Marrow Failure v0.94 FECH Zornitza Stark Phenotypes for gene: FECH were changed from to Protoporphyria, erythropoietic, 1, MIM# 177000
Bone Marrow Failure v0.93 FECH Zornitza Stark Mode of inheritance for gene: FECH was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Bone Marrow Failure v0.92 FECH Zornitza Stark Classified gene: FECH as Red List (low evidence)
Bone Marrow Failure v0.92 FECH Zornitza Stark Gene: fech has been classified as Red List (Low Evidence).
Bone Marrow Failure v0.91 FECH Zornitza Stark reviewed gene: FECH: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Protoporphyria, erythropoietic, 1, MIM# 177000; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Bone Marrow Failure v0.91 ERCC4 Zornitza Stark Marked gene: ERCC4 as ready
Bone Marrow Failure v0.91 ERCC4 Zornitza Stark Gene: ercc4 has been classified as Green List (High Evidence).
Bone Marrow Failure v0.91 ERCC4 Zornitza Stark Phenotypes for gene: ERCC4 were changed from to Fanconi anemia, complementation group Q, MIM# 615272
Bone Marrow Failure v0.90 ERCC4 Zornitza Stark Publications for gene: ERCC4 were set to
Bone Marrow Failure v0.89 ERCC4 Zornitza Stark Mode of inheritance for gene: ERCC4 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Bone Marrow Failure v0.88 ERCC4 Zornitza Stark reviewed gene: ERCC4: Rating: GREEN; Mode of pathogenicity: None; Publications: 23623386; Phenotypes: Fanconi anemia, complementation group Q, MIM# 615272; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Bone Marrow Failure v0.88 DDX41 Zornitza Stark edited their review of gene: DDX41: Added comment: Approximately half of individuals reported in this cohort experienced cytopaenia in the years preceding the diagnosis of a malignancy.; Changed publications: 31698430, 31484648; Changed phenotypes: {Myeloproliferative/lymphoproliferative neoplasms, familial (multiple types), susceptibility to} MIM# 616871
Bone Marrow Failure v0.88 ALAS2 Zornitza Stark Marked gene: ALAS2 as ready
Bone Marrow Failure v0.88 ALAS2 Zornitza Stark Gene: alas2 has been classified as Green List (High Evidence).
Bone Marrow Failure v0.88 ALAS2 Zornitza Stark Phenotypes for gene: ALAS2 were changed from to Anemia, sideroblastic, 1, MIM# 300751
Bone Marrow Failure v0.87 ALAS2 Zornitza Stark Publications for gene: ALAS2 were set to
Bone Marrow Failure v0.86 ALAS2 Zornitza Stark Mode of inheritance for gene: ALAS2 was changed from Unknown to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Bone Marrow Failure v0.85 ALAS2 Zornitza Stark reviewed gene: ALAS2: Rating: GREEN; Mode of pathogenicity: None; Publications: 10029606; Phenotypes: Anemia, sideroblastic, 1, MIM# 300751; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Bone Marrow Failure v0.85 AK2 Zornitza Stark reviewed gene: AK2: Rating: GREEN; Mode of pathogenicity: None; Publications: 19043416; Phenotypes: Reticular dysgenesis, MIM# 267500; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Bone Marrow Failure v0.85 ABCB7 Zornitza Stark Marked gene: ABCB7 as ready
Bone Marrow Failure v0.85 ABCB7 Zornitza Stark Gene: abcb7 has been classified as Green List (High Evidence).
Bone Marrow Failure v0.85 ABCB7 Zornitza Stark Phenotypes for gene: ABCB7 were changed from to Anemia, sideroblastic, with ataxia, MIM# 301310
Bone Marrow Failure v0.84 ABCB7 Zornitza Stark Publications for gene: ABCB7 were set to
Bone Marrow Failure v0.83 ABCB7 Zornitza Stark Mode of inheritance for gene: ABCB7 was changed from Unknown to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Bone Marrow Failure v0.82 ABCB7 Zornitza Stark reviewed gene: ABCB7: Rating: GREEN; Mode of pathogenicity: None; Publications: 10196363; Phenotypes: Anemia, sideroblastic, with ataxia, MIM# 301310; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Bone Marrow Failure v0.82 MYSM1 Zornitza Stark Publications for gene: MYSM1 were set to 24288411; 28115216; 26220525
Bone Marrow Failure v0.81 MYSM1 Zornitza Stark changed review comment from: Aarly-onset anaemia, leukopaenia, and decreased B cells, may have thrombocytopaenia or variable additional non-haematologic features, such as facial dysmorphism, skeletal anomalies, and mild developmental delay. At least 4 unrelated families reported.
Sources: Expert list; to: Early-onset anaemia, leukopaenia, and decreased B cells, may have thrombocytopaenia or variable additional non-haematologic features, such as facial dysmorphism, skeletal anomalies, and mild developmental delay. At least 4 unrelated families reported.
Sources: Expert list
Bone Marrow Failure v0.81 MYSM1 Zornitza Stark changed review comment from: early-onset anaemia, leukopaenia, and decreased B cells, may have thrombocytopaenia or variable additional non-haematologic features, such as facial dysmorphism, skeletal anomalies, and mild developmental delay. At least 4 unrelated families reported.
Sources: Expert list; to: Aarly-onset anaemia, leukopaenia, and decreased B cells, may have thrombocytopaenia or variable additional non-haematologic features, such as facial dysmorphism, skeletal anomalies, and mild developmental delay. At least 4 unrelated families reported.
Sources: Expert list
Bone Marrow Failure v0.81 MYSM1 Zornitza Stark changed review comment from: early-onset anaemia, leukopaenia, and decreased B cells, may have thrombocytopaenia or variable additional non-haematologic features, such as facial dysmorphism, skeletal anomalies, and mild developmental delay
Sources: Expert list; to: early-onset anaemia, leukopaenia, and decreased B cells, may have thrombocytopaenia or variable additional non-haematologic features, such as facial dysmorphism, skeletal anomalies, and mild developmental delay. At least 4 unrelated families reported.
Sources: Expert list
Bone Marrow Failure v0.81 MYSM1 Zornitza Stark edited their review of gene: MYSM1: Changed publications: 24288411, 28115216, 26220525, 32640305
Bone Marrow Failure v0.81 CDAN1 Zornitza Stark Marked gene: CDAN1 as ready
Bone Marrow Failure v0.81 CDAN1 Zornitza Stark Gene: cdan1 has been classified as Green List (High Evidence).
Bone Marrow Failure v0.81 CDAN1 Zornitza Stark Phenotypes for gene: CDAN1 were changed from to Dyserythropoietic anemia, congenital, type Ia, 224120
Bone Marrow Failure v0.80 CDAN1 Zornitza Stark Publications for gene: CDAN1 were set to
Bone Marrow Failure v0.79 CDAN1 Zornitza Stark Mode of inheritance for gene: CDAN1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Bone Marrow Failure v0.78 CDAN1 Zornitza Stark reviewed gene: CDAN1: Rating: GREEN; Mode of pathogenicity: None; Publications: 32518175; Phenotypes: Dyserythropoietic anemia, congenital, type Ia, 224120; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Bone Marrow Failure v0.78 RAD51C Zornitza Stark Marked gene: RAD51C as ready
Bone Marrow Failure v0.78 RAD51C Zornitza Stark Gene: rad51c has been classified as Green List (High Evidence).
Bone Marrow Failure v0.78 RAD51C Zornitza Stark Phenotypes for gene: RAD51C were changed from to Fanconi anemia, complementation group O, MIM# 613390
Bone Marrow Failure v0.77 RAD51C Zornitza Stark Publications for gene: RAD51C were set to
Bone Marrow Failure v0.76 RAD51C Zornitza Stark Mode of inheritance for gene: RAD51C was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Bone Marrow Failure v0.75 RAD51C Zornitza Stark reviewed gene: RAD51C: Rating: GREEN; Mode of pathogenicity: None; Publications: 20400963, 29278735; Phenotypes: Fanconi anemia, complementation group O, MIM# 613390; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Bone Marrow Failure v0.75 UBE2T Zornitza Stark Tag SV/CNV tag was added to gene: UBE2T.
Bone Marrow Failure v0.75 UBE2T Zornitza Stark Classified gene: UBE2T as Green List (high evidence)
Bone Marrow Failure v0.75 UBE2T Zornitza Stark Gene: ube2t has been classified as Green List (High Evidence).
Bone Marrow Failure v0.74 UBE2T Zornitza Stark edited their review of gene: UBE2T: Added comment: Additional family reported, upgrade to Green.; Changed rating: GREEN; Changed publications: 26046368, 32646888; Changed phenotypes: Fanconi anemia, complementation group T, MIM# 616435
Bone Marrow Failure v0.74 MPL Zornitza Stark Marked gene: MPL as ready
Bone Marrow Failure v0.74 MPL Zornitza Stark Gene: mpl has been classified as Green List (High Evidence).
Bone Marrow Failure v0.74 MPL Zornitza Stark Phenotypes for gene: MPL were changed from to Myelofibrosis with myeloid metaplasia, somatic, MIM#2544503; Thrombocythemia 2, MIM#601977, AD, SMu; Thrombocytopenia, congenital amegakaryocytic, MIM#604498, AR
Bone Marrow Failure v0.73 MPL Zornitza Stark Publications for gene: MPL were set to
Bone Marrow Failure v0.72 MPL Zornitza Stark Mode of inheritance for gene: MPL was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Bone Marrow Failure v0.71 MPL Zornitza Stark reviewed gene: MPL: Rating: GREEN; Mode of pathogenicity: None; Publications: 28955303, 26423830; Phenotypes: Myelofibrosis with myeloid metaplasia, somatic, MIM#2544503, Thrombocythemia 2, MIM#601977, AD, SMu, Thrombocytopenia, congenital amegakaryocytic, MIM#604498, AR; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Bone Marrow Failure v0.71 FANCM Zornitza Stark Tag refuted tag was added to gene: FANCM.
Bone Marrow Failure v0.71 FANCM Zornitza Stark Marked gene: FANCM as ready
Bone Marrow Failure v0.71 FANCM Zornitza Stark Gene: fancm has been classified as Red List (Low Evidence).
Bone Marrow Failure v0.71 FANCM Zornitza Stark Phenotypes for gene: FANCM were changed from to Fanconi anaemia
Bone Marrow Failure v0.70 FANCM Zornitza Stark Publications for gene: FANCM were set to
Bone Marrow Failure v0.69 FANCM Zornitza Stark Mode of inheritance for gene: FANCM was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Bone Marrow Failure v0.68 FANCM Zornitza Stark Classified gene: FANCM as Red List (low evidence)
Bone Marrow Failure v0.68 FANCM Zornitza Stark Gene: fancm has been classified as Red List (Low Evidence).
Bone Marrow Failure v0.67 FANCM Zornitza Stark reviewed gene: FANCM: Rating: RED; Mode of pathogenicity: None; Publications: 28837162; Phenotypes: Fanconi anaemia; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Bone Marrow Failure v0.67 RBM8A Zornitza Stark Marked gene: RBM8A as ready
Bone Marrow Failure v0.67 RBM8A Zornitza Stark Gene: rbm8a has been classified as Green List (High Evidence).
Bone Marrow Failure v0.67 RBM8A Zornitza Stark Phenotypes for gene: RBM8A were changed from to Thrombocytopenia-absent radius syndrome, MIM# 274000
Bone Marrow Failure v0.66 RBM8A Zornitza Stark Mode of inheritance for gene: RBM8A was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Bone Marrow Failure v0.65 RBM8A Zornitza Stark Tag SV/CNV tag was added to gene: RBM8A.
Bone Marrow Failure v0.65 RBM8A Zornitza Stark reviewed gene: RBM8A: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Thrombocytopenia-absent radius syndrome, MIM# 274000; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Bone Marrow Failure v0.65 RPS29 Zornitza Stark Marked gene: RPS29 as ready
Bone Marrow Failure v0.65 RPS29 Zornitza Stark Gene: rps29 has been classified as Amber List (Moderate Evidence).
Bone Marrow Failure v0.65 RPS29 Zornitza Stark Phenotypes for gene: RPS29 were changed from to Diamond-Blackfan anemia 13, MIM# 615909
Bone Marrow Failure v0.64 RPS29 Zornitza Stark Publications for gene: RPS29 were set to
Bone Marrow Failure v0.63 RPS29 Zornitza Stark Mode of inheritance for gene: RPS29 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Bone Marrow Failure v0.62 RPS29 Zornitza Stark Classified gene: RPS29 as Amber List (moderate evidence)
Bone Marrow Failure v0.62 RPS29 Zornitza Stark Gene: rps29 has been classified as Amber List (Moderate Evidence).
Bone Marrow Failure v0.61 RPS29 Zornitza Stark reviewed gene: RPS29: Rating: AMBER; Mode of pathogenicity: None; Publications: 24829207; Phenotypes: Diamond-Blackfan anemia 13, MIM# 615909; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Bone Marrow Failure v0.61 MECOM Zornitza Stark Mode of pathogenicity for gene: MECOM was changed from None to Other
Bone Marrow Failure v0.60 MECOM Ain Roesley changed review comment from: PMID: 29146883; 6 unrelated individuals with heamatological defects without RUS. de novo variants cause severe aplastic anemia (AA) occuring within the first months of life that requries hematopoietic stem cel transplatation (HSCT).
Mutational spectrum: 2 missense, 2 frameshifts, 1 nonsense and 1 splice; to: PMID: 29146883; 5 unrelated individuals with heamatological defects without RUS. de novo variants cause severe aplastic anemia (AA) occuring within the first months of life that requries hematopoietic stem cel transplatation (HSCT).
Mutational spectrum: 1 missense, 2 frameshifts, 1 nonsense and 1 splice
Bone Marrow Failure v0.60 MECOM Zornitza Stark Phenotypes for gene: MECOM were changed from Radioulnar synostosis with amegakaryocytic thrombocytopenia 2, MIM#616738 to Radioulnar synostosis with amegakaryocytic thrombocytopenia 2, MIM#616738; Bone marrow failure without radioulnar synostosis (RUS)
Bone Marrow Failure v0.59 MECOM Zornitza Stark Publications for gene: MECOM were set to 26581901; 29519864
Bone Marrow Failure v0.58 MECOM Ain Roesley reviewed gene: MECOM: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 29146883; Phenotypes: bone marrow failure without radioulnar synostosis (RUS); Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Bone Marrow Failure v0.56 TP53 Zornitza Stark Marked gene: TP53 as ready
Bone Marrow Failure v0.56 TP53 Zornitza Stark Gene: tp53 has been classified as Amber List (Moderate Evidence).
Bone Marrow Failure v0.56 TP53 Zornitza Stark Classified gene: TP53 as Amber List (moderate evidence)
Bone Marrow Failure v0.56 TP53 Zornitza Stark Gene: tp53 has been classified as Amber List (Moderate Evidence).
Bone Marrow Failure v0.55 TP53 Zornitza Stark gene: TP53 was added
gene: TP53 was added to Bone Marrow Failure. Sources: Expert list
Mode of inheritance for gene: TP53 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: TP53 were set to 30146126; 24013501; 23770245
Phenotypes for gene: TP53 were set to Bone marrow failure syndrome 5, MIM# 618165
Mode of pathogenicity for gene: TP53 was set to Other
Review for gene: TP53 was set to AMBER
Added comment: Two unrelated individuals with de novo variants in this gene, both resulted in the same truncation of the protein with a loss of 32 residues from the C-terminal end (Ser362AlafsTer8). The deletion is postulated to compromise binding of negative transcriptional regulators, resulting in augmented p53 function, not loss of function. Mouse models with animals lacking the C-terminal end of Tp53 show similar abnormalities.
Sources: Expert list
Bone Marrow Failure v0.54 SAMD9L Zornitza Stark Marked gene: SAMD9L as ready
Bone Marrow Failure v0.54 SAMD9L Zornitza Stark Gene: samd9l has been classified as Green List (High Evidence).
Bone Marrow Failure v0.54 SAMD9L Zornitza Stark Classified gene: SAMD9L as Green List (high evidence)
Bone Marrow Failure v0.54 SAMD9L Zornitza Stark Gene: samd9l has been classified as Green List (High Evidence).
Bone Marrow Failure v0.53 SAMD9L Zornitza Stark gene: SAMD9L was added
gene: SAMD9L was added to Bone Marrow Failure. Sources: Expert list
Mode of inheritance for gene: SAMD9L was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: SAMD9L were set to 27259050; 30923096; 30322869
Phenotypes for gene: SAMD9L were set to Ataxia-pancytopenia syndrome, MIM# 159550
Mode of pathogenicity for gene: SAMD9L was set to Other
Review for gene: SAMD9L was set to GREEN
Added comment: At least three unrelated families reported, some postulate GoF whereas others postulate LoF as mechanism.
Sources: Expert list
Bone Marrow Failure v0.52 RFWD3 Zornitza Stark Marked gene: RFWD3 as ready
Bone Marrow Failure v0.52 RFWD3 Zornitza Stark Gene: rfwd3 has been classified as Red List (Low Evidence).
Bone Marrow Failure v0.52 RFWD3 Zornitza Stark gene: RFWD3 was added
gene: RFWD3 was added to Bone Marrow Failure. Sources: Expert list
Mode of inheritance for gene: RFWD3 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: RFWD3 were set to 28691929
Phenotypes for gene: RFWD3 were set to Fanconi anemia, complementation group W, MIM# 617784
Review for gene: RFWD3 was set to RED
Added comment: Single family reported, functional data
Sources: Expert list
Bone Marrow Failure v0.51 MAD2L2 Zornitza Stark Marked gene: MAD2L2 as ready
Bone Marrow Failure v0.51 MAD2L2 Zornitza Stark Gene: mad2l2 has been classified as Red List (Low Evidence).
Bone Marrow Failure v0.51 MAD2L2 Zornitza Stark gene: MAD2L2 was added
gene: MAD2L2 was added to Bone Marrow Failure. Sources: Expert list
Mode of inheritance for gene: MAD2L2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: MAD2L2 were set to 27500492
Phenotypes for gene: MAD2L2 were set to Fanconi anemia, complementation group V, MIM# 617243
Review for gene: MAD2L2 was set to RED
Added comment: Single family reported.
Sources: Expert list
Bone Marrow Failure v0.50 UBE2T Zornitza Stark Marked gene: UBE2T as ready
Bone Marrow Failure v0.50 UBE2T Zornitza Stark Gene: ube2t has been classified as Amber List (Moderate Evidence).
Bone Marrow Failure v0.50 UBE2T Zornitza Stark Classified gene: UBE2T as Amber List (moderate evidence)
Bone Marrow Failure v0.50 UBE2T Zornitza Stark Gene: ube2t has been classified as Amber List (Moderate Evidence).
Bone Marrow Failure v0.49 UBE2T Zornitza Stark gene: UBE2T was added
gene: UBE2T was added to Bone Marrow Failure. Sources: Expert list
Mode of inheritance for gene: UBE2T was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: UBE2T were set to 26046368
Phenotypes for gene: UBE2T were set to Fanconi anemia, complementation group T, MIM# 616435
Review for gene: UBE2T was set to AMBER
Added comment: Two unrelated families reported, one of the variants was a large deletion.
Sources: Expert list
Bone Marrow Failure v0.48 BRCA1 Zornitza Stark Marked gene: BRCA1 as ready
Bone Marrow Failure v0.48 BRCA1 Zornitza Stark Gene: brca1 has been classified as Green List (High Evidence).
Bone Marrow Failure v0.48 BRCA1 Zornitza Stark Classified gene: BRCA1 as Green List (high evidence)
Bone Marrow Failure v0.48 BRCA1 Zornitza Stark Gene: brca1 has been classified as Green List (High Evidence).
Bone Marrow Failure v0.47 BRCA1 Zornitza Stark gene: BRCA1 was added
gene: BRCA1 was added to Bone Marrow Failure. Sources: Expert list
Mode of inheritance for gene: BRCA1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: BRCA1 were set to 23269703; 29133208; 25472942; 29712865
Phenotypes for gene: BRCA1 were set to Fanconi anemia, complementation group S, MIM# 617883
Review for gene: BRCA1 was set to GREEN
Added comment: At least 5 unrelated families with bi-allelic variants reported and FA phenotype.
Sources: Expert list
Bone Marrow Failure v0.46 MECOM Zornitza Stark Publications for gene: MECOM were set to 26581901
Bone Marrow Failure v0.45 MECOM Kristin Rigbye reviewed gene: MECOM: Rating: GREEN; Mode of pathogenicity: Other; Publications: 26581901, 29519864; Phenotypes: Radioulnar synostosis with amegakaryocytic thrombocytopenia 2, 616738; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Bone Marrow Failure v0.45 TERC Zornitza Stark Marked gene: TERC as ready
Bone Marrow Failure v0.45 TERC Zornitza Stark Gene: terc has been classified as Green List (High Evidence).
Bone Marrow Failure v0.45 TERC Zornitza Stark Phenotypes for gene: TERC were changed from to Dyskeratosis congenita, autosomal dominant 1, MIM# 127550
Bone Marrow Failure v0.44 TERC Zornitza Stark Mode of inheritance for gene: TERC was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Bone Marrow Failure v0.43 TERC Zornitza Stark reviewed gene: TERC: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Dyskeratosis congenita, autosomal dominant 1, MIM# 127550; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Bone Marrow Failure v0.43 Zornitza Stark removed gene:TCIRG1 from the panel
Bone Marrow Failure v0.41 VPS45 Zornitza Stark Marked gene: VPS45 as ready
Bone Marrow Failure v0.41 VPS45 Zornitza Stark Gene: vps45 has been classified as Green List (High Evidence).
Bone Marrow Failure v0.41 VPS45 Zornitza Stark Classified gene: VPS45 as Green List (high evidence)
Bone Marrow Failure v0.41 VPS45 Zornitza Stark Gene: vps45 has been classified as Green List (High Evidence).
Bone Marrow Failure v0.40 VPS45 Zornitza Stark gene: VPS45 was added
gene: VPS45 was added to Bone Marrow Failure. Sources: Expert list
Mode of inheritance for gene: VPS45 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: VPS45 were set to 23599270; 23738510
Phenotypes for gene: VPS45 were set to Neutropenia, severe congenital, 5, autosomal recessive, MIM#615285
Review for gene: VPS45 was set to GREEN
gene: VPS45 was marked as current diagnostic
Added comment: Same homozygous missense variant, p.Thr224Asn, identified in 6 Middle Eastern families. A different variant, p.Glu238Lys, identified in another family. Zebrafish model.
Sources: Expert list
Bone Marrow Failure v0.39 TCIRG1 Zornitza Stark Marked gene: TCIRG1 as ready
Bone Marrow Failure v0.39 TCIRG1 Zornitza Stark Gene: tcirg1 has been classified as Green List (High Evidence).
Bone Marrow Failure v0.39 TCIRG1 Zornitza Stark Classified gene: TCIRG1 as Green List (high evidence)
Bone Marrow Failure v0.39 TCIRG1 Zornitza Stark Gene: tcirg1 has been classified as Green List (High Evidence).
Bone Marrow Failure v0.38 TCIRG1 Zornitza Stark gene: TCIRG1 was added
gene: TCIRG1 was added to Bone Marrow Failure. Sources: Expert list
Mode of inheritance for gene: TCIRG1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: TCIRG1 were set to Osteopetrosis, autosomal recessive 1, MIM# 259700
Review for gene: TCIRG1 was set to GREEN
gene: TCIRG1 was marked as current diagnostic
Added comment: Pancytopaenia is a presenting feature.
Sources: Expert list
Bone Marrow Failure v0.37 RPL26 Zornitza Stark Marked gene: RPL26 as ready
Bone Marrow Failure v0.37 RPL26 Zornitza Stark Gene: rpl26 has been classified as Red List (Low Evidence).
Bone Marrow Failure v0.37 RPL26 Zornitza Stark gene: RPL26 was added
gene: RPL26 was added to Bone Marrow Failure. Sources: Expert list
Mode of inheritance for gene: RPL26 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: RPL26 were set to 22431104
Phenotypes for gene: RPL26 were set to Diamond-Blackfan anemia 11, MIM# 614900
Review for gene: RPL26 was set to RED
Added comment: Single reported individual.
Sources: Expert list
Bone Marrow Failure v0.36 RPL15 Zornitza Stark Marked gene: RPL15 as ready
Bone Marrow Failure v0.36 RPL15 Zornitza Stark Gene: rpl15 has been classified as Green List (High Evidence).
Bone Marrow Failure v0.36 RPL15 Zornitza Stark Classified gene: RPL15 as Green List (high evidence)
Bone Marrow Failure v0.36 RPL15 Zornitza Stark Gene: rpl15 has been classified as Green List (High Evidence).
Bone Marrow Failure v0.35 RPL15 Zornitza Stark gene: RPL15 was added
gene: RPL15 was added to Bone Marrow Failure. Sources: Expert list
Mode of inheritance for gene: RPL15 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: RPL15 were set to 23812780; 29599205
Phenotypes for gene: RPL15 were set to Diamond-Blackfan anemia 12, MIM# 615550
Review for gene: RPL15 was set to GREEN
gene: RPL15 was marked as current diagnostic
Added comment: 7 unrelated individuals reported to date.
Sources: Expert list
Bone Marrow Failure v0.34 JAGN1 Zornitza Stark Marked gene: JAGN1 as ready
Bone Marrow Failure v0.34 JAGN1 Zornitza Stark Gene: jagn1 has been classified as Green List (High Evidence).
Bone Marrow Failure v0.34 JAGN1 Zornitza Stark Classified gene: JAGN1 as Green List (high evidence)
Bone Marrow Failure v0.34 JAGN1 Zornitza Stark Gene: jagn1 has been classified as Green List (High Evidence).
Bone Marrow Failure v0.33 JAGN1 Zornitza Stark gene: JAGN1 was added
gene: JAGN1 was added to Bone Marrow Failure. Sources: Expert list
Mode of inheritance for gene: JAGN1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: JAGN1 were set to 25129144
Phenotypes for gene: JAGN1 were set to Neutropenia, severe congenital, 6, autosomal recessive, MIM# 616022
Review for gene: JAGN1 was set to GREEN
gene: JAGN1 was marked as current diagnostic
Added comment: Fourteen individuals from 9 families reported.
Sources: Expert list
Bone Marrow Failure v0.32 ETV6 Zornitza Stark Marked gene: ETV6 as ready
Bone Marrow Failure v0.32 ETV6 Zornitza Stark Gene: etv6 has been classified as Green List (High Evidence).
Bone Marrow Failure v0.32 ETV6 Zornitza Stark Classified gene: ETV6 as Green List (high evidence)
Bone Marrow Failure v0.32 ETV6 Zornitza Stark Gene: etv6 has been classified as Green List (High Evidence).
Bone Marrow Failure v0.31 ETV6 Zornitza Stark gene: ETV6 was added
gene: ETV6 was added to Bone Marrow Failure. Sources: Expert list
Mode of inheritance for gene: ETV6 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: ETV6 were set to 25581430; 25807284
Phenotypes for gene: ETV6 were set to Thrombocytopenia 5, MIM# 616216
Review for gene: ETV6 was set to GREEN
gene: ETV6 was marked as current diagnostic
Added comment: At least 6 unrelated families reported.
Sources: Expert list
Bone Marrow Failure v0.30 CSF3R Zornitza Stark Marked gene: CSF3R as ready
Bone Marrow Failure v0.30 CSF3R Zornitza Stark Gene: csf3r has been classified as Green List (High Evidence).
Bone Marrow Failure v0.30 CSF3R Zornitza Stark Classified gene: CSF3R as Green List (high evidence)
Bone Marrow Failure v0.30 CSF3R Zornitza Stark Gene: csf3r has been classified as Green List (High Evidence).
Bone Marrow Failure v0.29 CSF3R Zornitza Stark gene: CSF3R was added
gene: CSF3R was added to Bone Marrow Failure. Sources: Expert list
Mode of inheritance for gene: CSF3R was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: CSF3R were set to 24753537; 26324699
Phenotypes for gene: CSF3R were set to Neutropenia, severe congenital, 7, autosomal recessive, MIM# 617014
Review for gene: CSF3R was set to GREEN
gene: CSF3R was marked as current diagnostic
Added comment: Three unrelated families reported.
Sources: Expert list
Bone Marrow Failure v0.28 SRP54 Zornitza Stark Marked gene: SRP54 as ready
Bone Marrow Failure v0.28 SRP54 Zornitza Stark Gene: srp54 has been classified as Green List (High Evidence).
Bone Marrow Failure v0.28 SRP54 Zornitza Stark Phenotypes for gene: SRP54 were changed from to Syndromic neutropenia with Shwachman-Diamond-like features
Bone Marrow Failure v0.27 SRP54 Zornitza Stark Publications for gene: SRP54 were set to
Bone Marrow Failure v0.26 SRP54 Zornitza Stark Mode of inheritance for gene: SRP54 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Bone Marrow Failure v0.25 SRP54 Zornitza Stark reviewed gene: SRP54: Rating: GREEN; Mode of pathogenicity: None; Publications: 28972538; Phenotypes: Syndromic neutropenia with Shwachman-Diamond-like features; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Bone Marrow Failure v0.25 DDX41 Zornitza Stark Marked gene: DDX41 as ready
Bone Marrow Failure v0.25 DDX41 Zornitza Stark Gene: ddx41 has been classified as Green List (High Evidence).
Bone Marrow Failure v0.25 DDX41 Zornitza Stark Classified gene: DDX41 as Green List (high evidence)
Bone Marrow Failure v0.25 DDX41 Zornitza Stark Gene: ddx41 has been classified as Green List (High Evidence).
Bone Marrow Failure v0.24 DDX41 Zornitza Stark gene: DDX41 was added
gene: DDX41 was added to Bone Marrow Failure. Sources: Expert list
Mode of inheritance for gene: DDX41 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: DDX41 were set to {Myeloproliferative/lymphoproliferative neoplasms, familial (multiple types), susceptibility to} MIM# 616871
Review for gene: DDX41 was set to GREEN
Added comment: Adult-onset disorder, often initially presents with myelodysplasia +/- a range of haematological malignancies. Reduced penetrance.
Sources: Expert list
Bone Marrow Failure v0.23 Zornitza Stark Panel types changed to Victorian Clinical Genetics Services; Rare Disease
Bone Marrow Failure v0.22 Zornitza Stark Panel name changed from Bone Marrow Failure_VCGS to Bone Marrow Failure
Panel types changed to Victorian Clinical Genetics Services
Bone Marrow Failure v0.21 STN1 Zornitza Stark Marked gene: STN1 as ready
Bone Marrow Failure v0.21 STN1 Zornitza Stark Gene: stn1 has been classified as Amber List (Moderate Evidence).
Bone Marrow Failure v0.21 STN1 Zornitza Stark Classified gene: STN1 as Amber List (moderate evidence)
Bone Marrow Failure v0.21 STN1 Zornitza Stark Gene: stn1 has been classified as Amber List (Moderate Evidence).
Bone Marrow Failure v0.20 STN1 Zornitza Stark gene: STN1 was added
gene: STN1 was added to Bone Marrow Failure_VCGS. Sources: Expert list
Mode of inheritance for gene: STN1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: STN1 were set to 27432940
Phenotypes for gene: STN1 were set to Cerebroretinal microangiopathy with calcification and cysts 2, MIM#617341
Review for gene: STN1 was set to AMBER
Added comment: Two unrelated individuals reported with a multisystem disorder characterised by premature ageing, pancytopaenia, hypocellular bone marrow, osteopaenia, liver fibrosis, vascular telangiectasia, intracranial calcifications and leukodystrophy.
Sources: Expert list
Bone Marrow Failure v0.19 SAMD9 Zornitza Stark Marked gene: SAMD9 as ready
Bone Marrow Failure v0.19 SAMD9 Zornitza Stark Gene: samd9 has been classified as Green List (High Evidence).
Bone Marrow Failure v0.19 SAMD9 Zornitza Stark Classified gene: SAMD9 as Green List (high evidence)
Bone Marrow Failure v0.19 SAMD9 Zornitza Stark Gene: samd9 has been classified as Green List (High Evidence).
Bone Marrow Failure v0.18 SAMD9 Zornitza Stark Classified gene: SAMD9 as Green List (high evidence)
Bone Marrow Failure v0.18 SAMD9 Zornitza Stark Gene: samd9 has been classified as Green List (High Evidence).
Bone Marrow Failure v0.17 SAMD9 Zornitza Stark gene: SAMD9 was added
gene: SAMD9 was added to Bone Marrow Failure_VCGS. Sources: Expert list
Mode of inheritance for gene: SAMD9 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: SAMD9 were set to 27182967
Phenotypes for gene: SAMD9 were set to MIRAGE syndrome, MIM#617053
Review for gene: SAMD9 was set to GREEN
Added comment: Four molecularly confirmed individuals from three families. Anaemia, thrombocytopaenia, leukopaenia and recurrent infections.
Sources: Expert list
Bone Marrow Failure v0.16 MYSM1 Zornitza Stark Marked gene: MYSM1 as ready
Bone Marrow Failure v0.16 MYSM1 Zornitza Stark Gene: mysm1 has been classified as Green List (High Evidence).
Bone Marrow Failure v0.16 MYSM1 Zornitza Stark Classified gene: MYSM1 as Green List (high evidence)
Bone Marrow Failure v0.16 MYSM1 Zornitza Stark Gene: mysm1 has been classified as Green List (High Evidence).
Bone Marrow Failure v0.15 MYSM1 Zornitza Stark gene: MYSM1 was added
gene: MYSM1 was added to Bone Marrow Failure_VCGS. Sources: Expert list
Mode of inheritance for gene: MYSM1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: MYSM1 were set to 24288411; 28115216; 26220525
Phenotypes for gene: MYSM1 were set to Bone marrow failure syndrome 4, MIM#618116
Review for gene: MYSM1 was set to GREEN
Added comment: early-onset anaemia, leukopaenia, and decreased B cells, may have thrombocytopaenia or variable additional non-haematologic features, such as facial dysmorphism, skeletal anomalies, and mild developmental delay
Sources: Expert list
Bone Marrow Failure v0.14 ERCC6L2 Zornitza Stark Marked gene: ERCC6L2 as ready
Bone Marrow Failure v0.14 ERCC6L2 Zornitza Stark Gene: ercc6l2 has been classified as Green List (High Evidence).
Bone Marrow Failure v0.14 ERCC6L2 Zornitza Stark Classified gene: ERCC6L2 as Green List (high evidence)
Bone Marrow Failure v0.14 ERCC6L2 Zornitza Stark Gene: ercc6l2 has been classified as Green List (High Evidence).
Bone Marrow Failure v0.13 ERCC6L2 Zornitza Stark gene: ERCC6L2 was added
gene: ERCC6L2 was added to Bone Marrow Failure_VCGS. Sources: Expert list
Mode of inheritance for gene: ERCC6L2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ERCC6L2 were set to 24507776; 27185855
Phenotypes for gene: ERCC6L2 were set to Bone marrow failure syndrome 2, MIM# 615715
Review for gene: ERCC6L2 was set to GREEN
Added comment: Trilineage bone marrow failure, learning disabilities, and microcephaly. Three consanguineous families reported, two with the same truncating variant.
Sources: Expert list
Bone Marrow Failure v0.12 DNAJC21 Zornitza Stark Marked gene: DNAJC21 as ready
Bone Marrow Failure v0.12 DNAJC21 Zornitza Stark Gene: dnajc21 has been classified as Green List (High Evidence).
Bone Marrow Failure v0.12 DNAJC21 Zornitza Stark Classified gene: DNAJC21 as Green List (high evidence)
Bone Marrow Failure v0.12 DNAJC21 Zornitza Stark Gene: dnajc21 has been classified as Green List (High Evidence).
Bone Marrow Failure v0.11 DNAJC21 Zornitza Stark gene: DNAJC21 was added
gene: DNAJC21 was added to Bone Marrow Failure_VCGS. Sources: Expert list
Mode of inheritance for gene: DNAJC21 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: DNAJC21 were set to 29700810; 28062395; 27346687
Phenotypes for gene: DNAJC21 were set to Bone marrow failure syndrome 3, MIM# 617052
Review for gene: DNAJC21 was set to GREEN
Added comment: Onset of pancytopenia in early childhood; variable nonspecific somatic abnormalities, including poor growth, microcephaly, and skin anomalies.
Sources: Expert list
Bone Marrow Failure v0.10 NPM1 Sue White Classified gene: NPM1 as Green List (high evidence)
Bone Marrow Failure v0.10 NPM1 Sue White Gene: npm1 has been classified as Green List (High Evidence).
Bone Marrow Failure v0.9 NPM1 Sue White Marked gene: NPM1 as ready
Bone Marrow Failure v0.9 NPM1 Sue White Gene: npm1 has been classified as Red List (Low Evidence).
Bone Marrow Failure v0.9 NPM1 Sue White gene: NPM1 was added
gene: NPM1 was added to Bone Marrow Failure_VCGS. Sources: Literature
Mode of inheritance for gene: NPM1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: NPM1 were set to 31570891
Phenotypes for gene: NPM1 were set to radial ray defects; short stature; nail dsytrophy; bone marrow failure
Penetrance for gene: NPM1 were set to unknown
Mode of pathogenicity for gene: NPM1 was set to Other
Review for gene: NPM1 was set to GREEN
Added comment: heterozygous presumed LOF variants cause a dyskeratosis congenita phenotype
Sources: Literature
Bone Marrow Failure v0.8 NOP10 Zornitza Stark Marked gene: NOP10 as ready
Bone Marrow Failure v0.8 NOP10 Zornitza Stark Gene: nop10 has been classified as Red List (Low Evidence).
Bone Marrow Failure v0.8 NOP10 Zornitza Stark Phenotypes for gene: NOP10 were changed from to Dyskeratosis congenita, autosomal recessive 1, MIM#224230
Bone Marrow Failure v0.7 NOP10 Zornitza Stark Publications for gene: NOP10 were set to 17507419
Bone Marrow Failure v0.6 NOP10 Zornitza Stark Mode of inheritance for gene: NOP10 was changed from BIALLELIC, autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal
Bone Marrow Failure v0.5 NOP10 Zornitza Stark Classified gene: NOP10 as Red List (low evidence)
Bone Marrow Failure v0.5 NOP10 Zornitza Stark Gene: nop10 has been classified as Red List (Low Evidence).
Bone Marrow Failure v0.4 NOP10 Zornitza Stark Publications for gene: NOP10 were set to
Bone Marrow Failure v0.4 NOP10 Zornitza Stark Mode of inheritance for gene: NOP10 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Bone Marrow Failure v0.4 NOP10 Zornitza Stark Classified gene: NOP10 as Red List (low evidence)
Bone Marrow Failure v0.4 NOP10 Zornitza Stark Gene: nop10 has been classified as Red List (Low Evidence).
Bone Marrow Failure v0.3 NOP10 Zornitza Stark reviewed gene: NOP10: Rating: RED; Mode of pathogenicity: None; Publications: 17507419; Phenotypes: Dyskeratosis congenita, autosomal recessive 1, MIM#224230; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Bone Marrow Failure v0.3 MASTL Zornitza Stark Marked gene: MASTL as ready
Bone Marrow Failure v0.3 MASTL Zornitza Stark Gene: mastl has been classified as Amber List (Moderate Evidence).
Bone Marrow Failure v0.3 MASTL Zornitza Stark Classified gene: MASTL as Amber List (moderate evidence)
Bone Marrow Failure v0.3 MASTL Zornitza Stark Gene: mastl has been classified as Amber List (Moderate Evidence).
Bone Marrow Failure v0.2 MASTL Zornitza Stark reviewed gene: MASTL: Rating: AMBER; Mode of pathogenicity: None; Publications: 12890928, 26136524; Phenotypes: Thrombocytopaenia, Aplastic anaemia; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Bone Marrow Failure v0.2 MECOM Zornitza Stark Classified gene: MECOM as Green List (high evidence)
Bone Marrow Failure v0.2 MECOM Zornitza Stark Gene: mecom has been classified as Green List (High Evidence).
Bone Marrow Failure v0.1 MECOM Zornitza Stark Marked gene: MECOM as ready
Bone Marrow Failure v0.1 MECOM Zornitza Stark Gene: mecom has been classified as Red List (Low Evidence).
Bone Marrow Failure v0.1 MECOM Zornitza Stark gene: MECOM was added
gene: MECOM was added to Bone Marrow Failure_VCGS. Sources: Expert Review
Mode of inheritance for gene: MECOM was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: MECOM were set to 26581901
Phenotypes for gene: MECOM were set to Radioulnar synostosis with amegakaryocytic thrombocytopenia 2, MIM#616738
Review for gene: MECOM was set to GREEN
gene: MECOM was marked as current diagnostic
Added comment: Multiple affected families reported, syndromic features tend to cluster with mutations in a particular domain. Non-syndromic presentations well described.
Sources: Expert Review
Bone Marrow Failure v0.0 XRCC2 Zornitza Stark gene: XRCC2 was added
gene: XRCC2 was added to Bone Marrow Failure_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: XRCC2 was set to Unknown
Bone Marrow Failure v0.0 WRAP53 Zornitza Stark gene: WRAP53 was added
gene: WRAP53 was added to Bone Marrow Failure_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: WRAP53 was set to Unknown
Bone Marrow Failure v0.0 WAS Zornitza Stark gene: WAS was added
gene: WAS was added to Bone Marrow Failure_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: WAS was set to Unknown
Bone Marrow Failure v0.0 USB1 Zornitza Stark gene: USB1 was added
gene: USB1 was added to Bone Marrow Failure_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: USB1 was set to Unknown
Bone Marrow Failure v0.0 TSR2 Zornitza Stark gene: TSR2 was added
gene: TSR2 was added to Bone Marrow Failure_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: TSR2 was set to Unknown
Bone Marrow Failure v0.0 TINF2 Zornitza Stark gene: TINF2 was added
gene: TINF2 was added to Bone Marrow Failure_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: TINF2 was set to Unknown
Bone Marrow Failure v0.0 TERT Zornitza Stark gene: TERT was added
gene: TERT was added to Bone Marrow Failure_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: TERT was set to Unknown
Bone Marrow Failure v0.0 TERC Zornitza Stark gene: TERC was added
gene: TERC was added to Bone Marrow Failure_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: TERC was set to Unknown
Bone Marrow Failure v0.0 TAZ Zornitza Stark gene: TAZ was added
gene: TAZ was added to Bone Marrow Failure_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: TAZ was set to Unknown
Bone Marrow Failure v0.0 SRP72 Zornitza Stark gene: SRP72 was added
gene: SRP72 was added to Bone Marrow Failure_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: SRP72 was set to Unknown
Bone Marrow Failure v0.0 SRP54 Zornitza Stark gene: SRP54 was added
gene: SRP54 was added to Bone Marrow Failure_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: SRP54 was set to Unknown
Bone Marrow Failure v0.0 SMARCAL1 Zornitza Stark gene: SMARCAL1 was added
gene: SMARCAL1 was added to Bone Marrow Failure_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: SMARCAL1 was set to Unknown
Bone Marrow Failure v0.0 SLX4 Zornitza Stark gene: SLX4 was added
gene: SLX4 was added to Bone Marrow Failure_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: SLX4 was set to Unknown
Bone Marrow Failure v0.0 SLC37A4 Zornitza Stark gene: SLC37A4 was added
gene: SLC37A4 was added to Bone Marrow Failure_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: SLC37A4 was set to Unknown
Bone Marrow Failure v0.0 SLC25A38 Zornitza Stark gene: SLC25A38 was added
gene: SLC25A38 was added to Bone Marrow Failure_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: SLC25A38 was set to Unknown
Bone Marrow Failure v0.0 SLC19A2 Zornitza Stark gene: SLC19A2 was added
gene: SLC19A2 was added to Bone Marrow Failure_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: SLC19A2 was set to Unknown
Bone Marrow Failure v0.0 SEC23B Zornitza Stark gene: SEC23B was added
gene: SEC23B was added to Bone Marrow Failure_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: SEC23B was set to Unknown
Bone Marrow Failure v0.0 SBDS Zornitza Stark gene: SBDS was added
gene: SBDS was added to Bone Marrow Failure_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: SBDS was set to Unknown
Bone Marrow Failure v0.0 RUNX1 Zornitza Stark gene: RUNX1 was added
gene: RUNX1 was added to Bone Marrow Failure_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: RUNX1 was set to Unknown
Bone Marrow Failure v0.0 RTEL1 Zornitza Stark gene: RTEL1 was added
gene: RTEL1 was added to Bone Marrow Failure_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: RTEL1 was set to Unknown
Bone Marrow Failure v0.0 RPS7 Zornitza Stark gene: RPS7 was added
gene: RPS7 was added to Bone Marrow Failure_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: RPS7 was set to Unknown
Bone Marrow Failure v0.0 RPS29 Zornitza Stark gene: RPS29 was added
gene: RPS29 was added to Bone Marrow Failure_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: RPS29 was set to Unknown
Bone Marrow Failure v0.0 RPS27 Zornitza Stark gene: RPS27 was added
gene: RPS27 was added to Bone Marrow Failure_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: RPS27 was set to Unknown
Bone Marrow Failure v0.0 RPS26 Zornitza Stark gene: RPS26 was added
gene: RPS26 was added to Bone Marrow Failure_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: RPS26 was set to Unknown
Bone Marrow Failure v0.0 RPS24 Zornitza Stark gene: RPS24 was added
gene: RPS24 was added to Bone Marrow Failure_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: RPS24 was set to Unknown
Bone Marrow Failure v0.0 RPS19 Zornitza Stark gene: RPS19 was added
gene: RPS19 was added to Bone Marrow Failure_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: RPS19 was set to Unknown
Bone Marrow Failure v0.0 RPS10 Zornitza Stark gene: RPS10 was added
gene: RPS10 was added to Bone Marrow Failure_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: RPS10 was set to Unknown
Bone Marrow Failure v0.0 RPL5 Zornitza Stark gene: RPL5 was added
gene: RPL5 was added to Bone Marrow Failure_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: RPL5 was set to Unknown
Bone Marrow Failure v0.0 RPL35A Zornitza Stark gene: RPL35A was added
gene: RPL35A was added to Bone Marrow Failure_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: RPL35A was set to Unknown
Bone Marrow Failure v0.0 RPL27 Zornitza Stark gene: RPL27 was added
gene: RPL27 was added to Bone Marrow Failure_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: RPL27 was set to Unknown
Bone Marrow Failure v0.0 RPL11 Zornitza Stark gene: RPL11 was added
gene: RPL11 was added to Bone Marrow Failure_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: RPL11 was set to Unknown
Bone Marrow Failure v0.0 RMRP Zornitza Stark gene: RMRP was added
gene: RMRP was added to Bone Marrow Failure_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: RMRP was set to Unknown
Bone Marrow Failure v0.0 RBM8A Zornitza Stark gene: RBM8A was added
gene: RBM8A was added to Bone Marrow Failure_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: RBM8A was set to Unknown
Bone Marrow Failure v0.0 RAD51C Zornitza Stark gene: RAD51C was added
gene: RAD51C was added to Bone Marrow Failure_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: RAD51C was set to Unknown
Bone Marrow Failure v0.0 PUS1 Zornitza Stark gene: PUS1 was added
gene: PUS1 was added to Bone Marrow Failure_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: PUS1 was set to Unknown
Bone Marrow Failure v0.0 PSTPIP1 Zornitza Stark gene: PSTPIP1 was added
gene: PSTPIP1 was added to Bone Marrow Failure_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: PSTPIP1 was set to Unknown
Bone Marrow Failure v0.0 PARN Zornitza Stark gene: PARN was added
gene: PARN was added to Bone Marrow Failure_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: PARN was set to Unknown
Bone Marrow Failure v0.0 PALB2 Zornitza Stark gene: PALB2 was added
gene: PALB2 was added to Bone Marrow Failure_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: PALB2 was set to Unknown
Bone Marrow Failure v0.0 NOP10 Zornitza Stark gene: NOP10 was added
gene: NOP10 was added to Bone Marrow Failure_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: NOP10 was set to Unknown
Bone Marrow Failure v0.0 NHP2 Zornitza Stark gene: NHP2 was added
gene: NHP2 was added to Bone Marrow Failure_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: NHP2 was set to Unknown
Bone Marrow Failure v0.0 NBEAL2 Zornitza Stark gene: NBEAL2 was added
gene: NBEAL2 was added to Bone Marrow Failure_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: NBEAL2 was set to Unknown
Bone Marrow Failure v0.0 MYH9 Zornitza Stark gene: MYH9 was added
gene: MYH9 was added to Bone Marrow Failure_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: MYH9 was set to Unknown
Bone Marrow Failure v0.0 MPL Zornitza Stark gene: MPL was added
gene: MPL was added to Bone Marrow Failure_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: MPL was set to Unknown
Bone Marrow Failure v0.0 MASTL Zornitza Stark gene: MASTL was added
gene: MASTL was added to Bone Marrow Failure_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: MASTL was set to Unknown
Bone Marrow Failure v0.0 LIG4 Zornitza Stark gene: LIG4 was added
gene: LIG4 was added to Bone Marrow Failure_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: LIG4 was set to Unknown
Bone Marrow Failure v0.0 KLF1 Zornitza Stark gene: KLF1 was added
gene: KLF1 was added to Bone Marrow Failure_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: KLF1 was set to Unknown
Bone Marrow Failure v0.0 HOXA11 Zornitza Stark gene: HOXA11 was added
gene: HOXA11 was added to Bone Marrow Failure_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: HOXA11 was set to Unknown
Bone Marrow Failure v0.0 HAX1 Zornitza Stark gene: HAX1 was added
gene: HAX1 was added to Bone Marrow Failure_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: HAX1 was set to Unknown
Bone Marrow Failure v0.0 GP1BA Zornitza Stark gene: GP1BA was added
gene: GP1BA was added to Bone Marrow Failure_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: GP1BA was set to Unknown
Bone Marrow Failure v0.0 GLRX5 Zornitza Stark gene: GLRX5 was added
gene: GLRX5 was added to Bone Marrow Failure_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: GLRX5 was set to Unknown
Bone Marrow Failure v0.0 GFI1 Zornitza Stark gene: GFI1 was added
gene: GFI1 was added to Bone Marrow Failure_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: GFI1 was set to Unknown
Bone Marrow Failure v0.0 GATA2 Zornitza Stark gene: GATA2 was added
gene: GATA2 was added to Bone Marrow Failure_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: GATA2 was set to Unknown
Bone Marrow Failure v0.0 GATA1 Zornitza Stark gene: GATA1 was added
gene: GATA1 was added to Bone Marrow Failure_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: GATA1 was set to Unknown
Bone Marrow Failure v0.0 G6PC3 Zornitza Stark gene: G6PC3 was added
gene: G6PC3 was added to Bone Marrow Failure_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: G6PC3 was set to Unknown
Bone Marrow Failure v0.0 FECH Zornitza Stark gene: FECH was added
gene: FECH was added to Bone Marrow Failure_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: FECH was set to Unknown
Bone Marrow Failure v0.0 FANCM Zornitza Stark gene: FANCM was added
gene: FANCM was added to Bone Marrow Failure_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: FANCM was set to Unknown
Bone Marrow Failure v0.0 FANCL Zornitza Stark gene: FANCL was added
gene: FANCL was added to Bone Marrow Failure_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: FANCL was set to Unknown
Bone Marrow Failure v0.0 FANCI Zornitza Stark gene: FANCI was added
gene: FANCI was added to Bone Marrow Failure_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: FANCI was set to Unknown
Bone Marrow Failure v0.0 FANCG Zornitza Stark gene: FANCG was added
gene: FANCG was added to Bone Marrow Failure_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: FANCG was set to Unknown
Bone Marrow Failure v0.0 FANCF Zornitza Stark gene: FANCF was added
gene: FANCF was added to Bone Marrow Failure_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: FANCF was set to Unknown
Bone Marrow Failure v0.0 FANCE Zornitza Stark gene: FANCE was added
gene: FANCE was added to Bone Marrow Failure_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: FANCE was set to Unknown
Bone Marrow Failure v0.0 FANCD2 Zornitza Stark gene: FANCD2 was added
gene: FANCD2 was added to Bone Marrow Failure_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: FANCD2 was set to Unknown
Bone Marrow Failure v0.0 FANCC Zornitza Stark gene: FANCC was added
gene: FANCC was added to Bone Marrow Failure_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: FANCC was set to Unknown
Bone Marrow Failure v0.0 FANCB Zornitza Stark gene: FANCB was added
gene: FANCB was added to Bone Marrow Failure_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: FANCB was set to Unknown
Bone Marrow Failure v0.0 FANCA Zornitza Stark gene: FANCA was added
gene: FANCA was added to Bone Marrow Failure_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: FANCA was set to Unknown
Bone Marrow Failure v0.0 ERCC4 Zornitza Stark gene: ERCC4 was added
gene: ERCC4 was added to Bone Marrow Failure_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: ERCC4 was set to Unknown
Bone Marrow Failure v0.0 ELANE Zornitza Stark gene: ELANE was added
gene: ELANE was added to Bone Marrow Failure_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: ELANE was set to Unknown
Bone Marrow Failure v0.0 EFL1 Zornitza Stark gene: EFL1 was added
gene: EFL1 was added to Bone Marrow Failure_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: EFL1 was set to Unknown
Bone Marrow Failure v0.0 DKC1 Zornitza Stark gene: DKC1 was added
gene: DKC1 was added to Bone Marrow Failure_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: DKC1 was set to Unknown
Bone Marrow Failure v0.0 CXCR4 Zornitza Stark gene: CXCR4 was added
gene: CXCR4 was added to Bone Marrow Failure_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: CXCR4 was set to Unknown
Bone Marrow Failure v0.0 CTC1 Zornitza Stark gene: CTC1 was added
gene: CTC1 was added to Bone Marrow Failure_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: CTC1 was set to Unknown
Bone Marrow Failure v0.0 CDAN1 Zornitza Stark gene: CDAN1 was added
gene: CDAN1 was added to Bone Marrow Failure_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: CDAN1 was set to Unknown
Bone Marrow Failure v0.0 BRIP1 Zornitza Stark gene: BRIP1 was added
gene: BRIP1 was added to Bone Marrow Failure_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: BRIP1 was set to Unknown
Bone Marrow Failure v0.0 BRCA2 Zornitza Stark gene: BRCA2 was added
gene: BRCA2 was added to Bone Marrow Failure_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: BRCA2 was set to Unknown
Bone Marrow Failure v0.0 ANKRD26 Zornitza Stark gene: ANKRD26 was added
gene: ANKRD26 was added to Bone Marrow Failure_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: ANKRD26 was set to Unknown
Bone Marrow Failure v0.0 ALAS2 Zornitza Stark gene: ALAS2 was added
gene: ALAS2 was added to Bone Marrow Failure_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: ALAS2 was set to Unknown
Bone Marrow Failure v0.0 AK2 Zornitza Stark gene: AK2 was added
gene: AK2 was added to Bone Marrow Failure_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: AK2 was set to Unknown
Bone Marrow Failure v0.0 ADA2 Zornitza Stark gene: ADA2 was added
gene: ADA2 was added to Bone Marrow Failure_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: ADA2 was set to Unknown
Bone Marrow Failure v0.0 ACD Zornitza Stark gene: ACD was added
gene: ACD was added to Bone Marrow Failure_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: ACD was set to Unknown
Bone Marrow Failure v0.0 ABCB7 Zornitza Stark gene: ABCB7 was added
gene: ABCB7 was added to Bone Marrow Failure_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: ABCB7 was set to Unknown
Bone Marrow Failure v0.0 Zornitza Stark Added panel Bone Marrow Failure_VCGS