PanelApp

Activity

Filter

Cancel
Date Panel Item Activity
256 actions
Bone Marrow Failure v1.114 RMRP Zornitza Stark Tag non-coding gene tag was added to gene: RMRP.
Bone Marrow Failure v1.113 TERC Zornitza Stark Tag non-coding gene tag was added to gene: TERC.
Bone Marrow Failure v1.111 RAD51 Bryony Thompson gene: RAD51 was added
gene: RAD51 was added to Bone Marrow Failure. Sources: Expert list
Mode of inheritance for gene: RAD51 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: RAD51 were set to 26253028; 26681308; 30907510
Phenotypes for gene: RAD51 were set to Fanconi anemia complementation group R MONDO:0014986
Review for gene: RAD51 was set to RED
Added comment: At least 3 unrelated individuals reported with Fanconi Anaemia and de novo missense variants, however, bone marrow failure was not present in any of the individuals reported.
Sources: Expert list
Bone Marrow Failure v1.106 POLA2 Sangavi Sivagnanasundram gene: POLA2 was added
gene: POLA2 was added to Bone Marrow Failure. Sources: Literature
Mode of inheritance for gene: POLA2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: POLA2 were set to 39616267
Phenotypes for gene: POLA2 were set to Telomere biology disorders; Coats plus syndrome MONDO:0012815
Added comment: New gene-disease association.

PMID: 39616267 - Five individuals from two unrelated swedish families presenting with clinical phenotype suggestive of a TBD disorder with Coats plus features including retinal and gastrointestinal telangiectasias. Affected individuals also presented with shortened telomeres.

Compound heterozygous variants were identified in both families.
Family A (Ile96Thr;Pro424Leu) - Both variants are present in gnomAD v4.1 but FAF is rare enough for AR condition [c.287 T > C, p.(Ile96Thr) - FAF 0.002%; c.1271 C > T, p.(Pro424Leu) - FAF 0.0002 %]
Family B (Ile96Thr; intragenic SNV resulting in the deletion of the 5’ terminal and exon 1) - same missense as the other family along with an SNV.

In vitro assay using CRISPR/Cas9 genome engineering into HEK293T to assess whether the p.(Ile96Thr) would affect telomere length. The subclones carrying the missense variant showed telomeric shortening of ~4kb compared to the WT subclones.
Sources: Literature
Bone Marrow Failure v1.99 KLF1 Zornitza Stark Mode of inheritance for gene: KLF1 was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Bone Marrow Failure v1.96 RPL26 Zornitza Stark edited their review of gene: RPL26: Added comment: PMID 39268718: Additional reported cases with multiple congenital anomalies - predominantly radial ray defects Article reports five individuals from one family with an intronic variant (c.-6+3_-6+25del). The variant was shown to segregate with AD pattern across 3 generations in similarly affected individuals. Reported two other unrelated individuals with de novo variants (p.Met30Cysfs*9 and c.-5-2A>G).; Changed rating: GREEN; Changed publications: 22431104, 39268718; Changed phenotypes: Diamond-Blackfan anemia 11, MIM# 614900
Bone Marrow Failure v1.95 RBSN Zornitza Stark gene: RBSN was added
gene: RBSN was added to Bone Marrow Failure. Sources: Literature
Mode of inheritance for gene: RBSN was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: RBSN were set to 29784638
Phenotypes for gene: RBSN were set to Myelofibrosis, congenital, with anemia, neutropenia, developmental delay, and ocular abnormalities, MIM# 620939
Review for gene: RBSN was set to RED
Added comment: Single family reported, 3 affected sibs, homozygous splice site variant. However, also note biallelic variants in this gene have also been associated with a neurodevelopmental syndrome in the absence of bone marrow involvement, Kariminejad-Reversade neurodevelopmental syndrome, MIM#620937. Given the overall small number of families reported, it is currently unclear whether these are two distinct disorders or part of a spectrum.
Sources: Literature
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 v1.90 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 v1.87 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 v1.85 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 v1.81 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 v1.79 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 v1.76 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 v1.74 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 v1.72 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 v1.70 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 v1.68 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 v1.66 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 v1.64 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 v1.62 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 v1.60 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 v1.58 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 v1.55 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 v1.53 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 v1.52 ELANE Zornitza Stark Mode of pathogenicity for gene: ELANE was changed from to Other
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 v1.49 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 v1.47 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 v1.44 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 v1.42 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 v1.39 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 v1.33 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 v1.27 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 v1.26 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 v1.24 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 v1.23 GATA2 Zornitza Stark Tag treatable tag was added to gene: GATA2.
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 v1.21 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 v1.19 AK2 Zornitza Stark Tag treatable tag was added to gene: AK2.
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 v1.15 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 v1.8 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 v1.5 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 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 v0.314 TERT Zornitza Stark Mode of inheritance for gene: TERT was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Bone Marrow Failure v0.311 ACD Zornitza Stark Mode of inheritance for gene: ACD was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Bone Marrow Failure v0.307 USB1 Zornitza Stark Mode of inheritance for gene: USB1 was changed from Unknown to 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 v0.302 WRAP53 Zornitza Stark Mode of inheritance for gene: WRAP53 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
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 v0.298 SBDS Zornitza Stark Mode of inheritance for gene: SBDS was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
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 v0.292 RPS10 Zornitza Stark Mode of inheritance for gene: RPS10 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Bone Marrow Failure v0.289 RPL5 Zornitza Stark Mode of inheritance for gene: RPL5 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Bone Marrow Failure v0.286 RMRP Zornitza Stark Mode of inheritance for gene: RMRP was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
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 v0.281 PALB2 Zornitza Stark Mode of inheritance for gene: PALB2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
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 v0.275 HAX1 Zornitza Stark Mode of inheritance for gene: HAX1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
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 v0.269 GFI1 Zornitza Stark Mode of inheritance for gene: GFI1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Bone Marrow Failure v0.266 GATA2 Zornitza Stark Mode of inheritance for gene: GATA2 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Bone Marrow Failure v0.264 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 v0.261 G6PC3 Zornitza Stark Mode of inheritance for gene: G6PC3 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
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 v0.255 FANCF Zornitza Stark Mode of inheritance for gene: FANCF was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
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 v0.247 ELANE Zornitza Stark Mode of inheritance for gene: ELANE was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Bone Marrow Failure v0.244 EFL1 Zornitza Stark Mode of inheritance for gene: EFL1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
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 v0.236 CTC1 Zornitza Stark Mode of inheritance for gene: CTC1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
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 v0.231 BRCA2 Zornitza Stark Mode of inheritance for gene: BRCA2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Bone Marrow Failure v0.230 ANKRD26 Zornitza Stark Tag 5'UTR tag was added to gene: ANKRD26.
Bone Marrow Failure v0.228 ANKRD26 Zornitza Stark Mode of inheritance for gene: ANKRD26 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Bone Marrow Failure v0.224 AK2 Zornitza Stark Mode of inheritance for gene: AK2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
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 v0.218 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 v0.215 RPL35A Zornitza Stark Tag SV/CNV tag was added to gene: RPL35A.
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 v0.210 FANCI Zornitza Stark Mode of inheritance for gene: FANCI was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
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 v0.204 FANCD2 Zornitza Stark Mode of inheritance for gene: FANCD2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
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 v0.198 FANCA Zornitza Stark Mode of inheritance for gene: FANCA was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
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 v0.191 RPS26 Zornitza Stark Mode of inheritance for gene: RPS26 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Bone Marrow Failure v0.188 RPS24 Zornitza Stark Mode of inheritance for gene: RPS24 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Bone Marrow Failure v0.185 RPS19 Zornitza Stark Mode of inheritance for gene: RPS19 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Bone Marrow Failure v0.182 RPL35A Zornitza Stark Mode of inheritance for gene: RPL35A was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Bone Marrow Failure v0.179 RPL27 Zornitza Stark Mode of inheritance for gene: RPL27 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Bone Marrow Failure v0.175 RPL11 Zornitza Stark Mode of inheritance for gene: RPL11 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Bone Marrow Failure v0.173 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 v0.170 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 v0.164 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 v0.162 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 v0.159 XRCC2 Zornitza Stark Mode of inheritance for gene: XRCC2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
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 v0.154 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 v0.150 SRP72 Zornitza Stark Mode of inheritance for gene: SRP72 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Bone Marrow Failure v0.148 SRP72 Zornitza Stark Tag disputed tag was added to gene: SRP72.
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 v0.143 SLX4 Zornitza Stark Mode of inheritance for gene: SLX4 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
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 v0.137 SLC25A38 Zornitza Stark Mode of inheritance for gene: SLC25A38 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
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 v0.131 SEC23B Zornitza Stark Mode of inheritance for gene: SEC23B was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
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 v0.125 RPS27 Zornitza Stark Mode of inheritance for gene: RPS27 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Bone Marrow Failure v0.122 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 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 v0.119 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 v0.116 PUS1 Zornitza Stark Mode of inheritance for gene: PUS1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
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 v0.111 NHP2 Zornitza Stark Mode of inheritance for gene: NHP2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
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 v0.105 LIG4 Zornitza Stark Mode of inheritance for gene: LIG4 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
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 v0.100 HOXA11 Zornitza Stark Mode of inheritance for gene: HOXA11 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Bone Marrow Failure v0.95 GLRX5 Zornitza Stark Mode of inheritance for gene: GLRX5 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
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 v0.89 ERCC4 Zornitza Stark Mode of inheritance for gene: ERCC4 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
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 v0.83 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 v0.79 CDAN1 Zornitza Stark Mode of inheritance for gene: CDAN1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
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 UBE2T Zornitza Stark Tag SV/CNV tag was added to gene: UBE2T.
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 FANCM Zornitza Stark Tag refuted tag was added to gene: FANCM.
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 v0.66 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 v0.63 RPS29 Zornitza Stark Mode of inheritance for gene: RPS29 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Bone Marrow Failure v0.61 MECOM Zornitza Stark Mode of pathogenicity for gene: MECOM was changed from None to Other
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 v0.53 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 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 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 v0.49 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 v0.47 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 v0.44 TERC Zornitza Stark Mode of inheritance for gene: TERC was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Bone Marrow Failure v0.40 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 v0.38 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 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 v0.35 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 v0.33 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 v0.31 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 v0.29 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 v0.26 SRP54 Zornitza Stark Mode of inheritance for gene: SRP54 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Bone Marrow Failure v0.24 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 v0.20 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 v0.17 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 v0.15 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 v0.13 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 v0.11 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 v0.9 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 v0.6 NOP10 Zornitza Stark Mode of inheritance for gene: NOP10 was changed from BIALLELIC, autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal
Bone Marrow Failure v0.4 NOP10 Zornitza Stark Mode of inheritance for gene: NOP10 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
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