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IBMDx study v0.38 DIAPH1 Chirag Patel Source IBMDx Study was removed from DIAPH1.
Mode of inheritance for gene DIAPH1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: DIAPH1 were changed from Macrothrombocytopenia and sensorineural hearing loss to DIAPH1-related sensorineural hearing loss-thrombocytopenia syndrome, MONDO:0044635
Publications for gene DIAPH1 were changed from 27707755, 27808407, 28003573, 28815995, 26912466 to 27707755, 27808407, 28003573, 28815995, 26912466
IBMDx study v0.37 ADA2 Zornitza Stark edited their review of gene: ADA2: Added comment: PMID 40864493 : Ten patients from seven kindreds presenting with a phenotype indicative of DADA2, in whom only a single pathogenic variant was identified. Studies involving ADA2 protein expression, secretion, and enzymatic activity indicate that p.G47A, p.G47R, p.G47V, p.R169Q, p.E328K, p.H424N, and p.Y453C exert a dominant negative effect on ADA2 enzymatic activity, dimerization, and/or secretion. New MOI and mechanism.; Changed publications: 24552284, 24552285, 33791889, 40864493; Changed mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
IBMDx study v0.36 ADA2 Zornitza Stark Mode of inheritance for gene: ADA2 was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
IBMDx study v0.34 TERC Zornitza Stark Mode of inheritance for gene: TERC was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
IBMDx study v0.33 TERC Zornitza Stark Tag non-coding gene tag was added to gene: TERC.
IBMDx study v0.33 ACKR1 Zornitza Stark Mode of inheritance for gene: ACKR1 was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
IBMDx study v0.31 ACKR1 Zornitza Stark gene: ACKR1 was added
gene: ACKR1 was added to IBMDx study. Sources: Expert Review
Mode of inheritance for gene: ACKR1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: ACKR1 were set to [Blood group, Duffy system] 110700; Duffy null susceptibility allele
Review for gene: ACKR1 was set to AMBER
Added comment: c.-67T>C is associated with low neutrophil counts.
Sources: Expert Review
IBMDx study v0.29 PUS1 Zornitza Stark Mode of inheritance for gene: PUS1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
IBMDx study v0.26 KLF1 Zornitza Stark Mode of inheritance for gene: KLF1 was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
IBMDx study v0.24 LIG4 Zornitza Stark Mode of inheritance for gene: LIG4 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
IBMDx study v0.22 ELANE Zornitza Stark Mode of pathogenicity for gene: ELANE was changed from to Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments
IBMDx study v0.21 ELANE Zornitza Stark Mode of inheritance for gene: ELANE was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
IBMDx study v0.18 RPA1 Zornitza Stark Mode of pathogenicity for gene: RPA1 was changed from to Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments
IBMDx study v0.17 RPA1 Zornitza Stark Mode of inheritance for gene: RPA1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
IBMDx study v0.14 RPL27 Zornitza Stark Mode of inheritance for gene: RPL27 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
IBMDx study v0.11 RPL26 Zornitza Stark Mode of pathogenicity for gene: RPL26 was changed from to None
IBMDx study v0.10 RPL26 Zornitza Stark Mode of inheritance for gene: RPL26 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
IBMDx study v0.6 FANCM Zornitza Stark Mode of inheritance for gene: FANCM was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
IBMDx study v0.3 CXCR4 Zornitza Stark Mode of inheritance for gene: CXCR4 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
IBMDx study v0.0 XRCC2 Zornitza Stark gene: XRCC2 was added
gene: XRCC2 was added to IBMDx study. Sources: IBMDx Study,Expert Review Green
Mode of inheritance for gene: XRCC2 was set to Unknown
Phenotypes for gene: XRCC2 were set to Fanconi anemia, complementation group U, MIM# 617247
IBMDx study v0.0 WRAP53 Zornitza Stark gene: WRAP53 was added
gene: WRAP53 was added to IBMDx study. Sources: IBMDx Study,Expert Review Green
Mode of inheritance for gene: WRAP53 was set to Unknown
Phenotypes for gene: WRAP53 were set to Dyskeratosis congenita, autosomal recessive 3, MIM# 613988
IBMDx study v0.0 WIPF1 Zornitza Stark gene: WIPF1 was added
gene: WIPF1 was added to IBMDx study. Sources: IBMDx Study,Expert Review Green
Mode of inheritance for gene: WIPF1 was set to Unknown
Phenotypes for gene: WIPF1 were set to Wiskott-Aldrich syndrome 2, MIM# 614493
IBMDx study v0.0 WAS Zornitza Stark gene: WAS was added
gene: WAS was added to IBMDx study. Sources: IBMDx Study,Expert Review Green
Mode of inheritance for gene: WAS was set to Unknown
Phenotypes for gene: WAS were set to Thrombocytopenia, X-linked, MIM# 313900; Wiskott-Aldrich syndrome, MIM# 301000
IBMDx study v0.0 VPS45 Zornitza Stark gene: VPS45 was added
gene: VPS45 was added to IBMDx study. Sources: IBMDx Study,Expert Review Green
Mode of inheritance for gene: VPS45 was set to Unknown
Phenotypes for gene: VPS45 were set to Neutropenia, severe congenital, 5, autosomal recessive, MIM#615285
IBMDx study v0.0 UBE2T Zornitza Stark gene: UBE2T was added
gene: UBE2T was added to IBMDx study. Sources: IBMDx Study,Expert Review Green
Mode of inheritance for gene: UBE2T was set to Unknown
Phenotypes for gene: UBE2T were set to Fanconi anemia, complementation group T, MIM# 616435
IBMDx study v0.0 TINF2 Zornitza Stark gene: TINF2 was added
gene: TINF2 was added to IBMDx study. Sources: IBMDx Study,Expert Review Green
Mode of inheritance for gene: TINF2 was set to Unknown
Phenotypes for gene: TINF2 were set to Revesz syndrome, MIM# 268130; Dyskeratosis congenita, autosomal dominant 3, MIM# 613990
IBMDx study v0.0 THPO Zornitza Stark gene: THPO was added
gene: THPO was added to IBMDx study. Sources: IBMDx Study,Expert Review Green
Mode of inheritance for gene: THPO was set to Unknown
Phenotypes for gene: THPO were set to Thrombocytopenia progressing to trilineage bone marrow failure
IBMDx study v0.0 TERT Zornitza Stark gene: TERT was added
gene: TERT was added to IBMDx study. Sources: IBMDx Study,Expert Review Green
Mode of inheritance for gene: TERT was set to Unknown
Phenotypes for gene: TERT were set to Dyskeratosis congenita, MIM# 613989; Pulmonary fibrosis and/or bone marrow failure, telomere-related, 1, MIM# 614742
IBMDx study v0.0 TERC Zornitza Stark gene: TERC was added
gene: TERC was added to IBMDx study. Sources: IBMDx Study,Expert Review Green
Mode of inheritance for gene: TERC was set to Unknown
Phenotypes for gene: TERC were set to Dyskeratosis congenita, autosomal dominant 1, MIM# 127550
IBMDx study v0.0 SRP54 Zornitza Stark gene: SRP54 was added
gene: SRP54 was added to IBMDx study. Sources: IBMDx Study,Expert Review Green
Mode of inheritance for gene: SRP54 was set to Unknown
Phenotypes for gene: SRP54 were set to Syndromic neutropenia with Shwachman-Diamond-like features
IBMDx study v0.0 SLX4 Zornitza Stark gene: SLX4 was added
gene: SLX4 was added to IBMDx study. Sources: IBMDx Study,Expert Review Green
Mode of inheritance for gene: SLX4 was set to Unknown
Phenotypes for gene: SLX4 were set to Fanconi anemia, complementation group P, MIM# 613951
IBMDx study v0.0 SLC25A38 Zornitza Stark gene: SLC25A38 was added
gene: SLC25A38 was added to IBMDx study. Sources: IBMDx Study,Expert Review Green
Mode of inheritance for gene: SLC25A38 was set to Unknown
Phenotypes for gene: SLC25A38 were set to Anemia, sideroblastic, 2, pyridoxine-refractory, MIM# 205950
IBMDx study v0.0 SLC19A2 Zornitza Stark gene: SLC19A2 was added
gene: SLC19A2 was added to IBMDx study. Sources: IBMDx Study,Expert Review Green
Mode of inheritance for gene: SLC19A2 was set to Unknown
Phenotypes for gene: SLC19A2 were set to Thiamine-responsive megaloblastic anemia syndrome, MIM# 249270
IBMDx study v0.0 SEC23B Zornitza Stark gene: SEC23B was added
gene: SEC23B was added to IBMDx study. Sources: IBMDx Study,Expert Review Green
Mode of inheritance for gene: SEC23B was set to Unknown
Phenotypes for gene: SEC23B were set to Dyserythropoietic anemia, congenital, type II , MIM#224100
IBMDx study v0.0 SBDS Zornitza Stark gene: SBDS was added
gene: SBDS was added to IBMDx study. Sources: IBMDx Study,Expert Review Green
Mode of inheritance for gene: SBDS was set to Unknown
Phenotypes for gene: SBDS were set to Shwachman-Diamond syndrome, MIM# 260400
IBMDx study v0.0 SAMD9L Zornitza Stark gene: SAMD9L was added
gene: SAMD9L was added to IBMDx study. Sources: IBMDx Study,Expert Review Green
Mode of inheritance for gene: SAMD9L was set to Unknown
Phenotypes for gene: SAMD9L were set to Ataxia-pancytopenia syndrome, MIM# 159550
IBMDx study v0.0 SAMD9 Zornitza Stark gene: SAMD9 was added
gene: SAMD9 was added to IBMDx study. Sources: IBMDx Study,Expert Review Green
Mode of inheritance for gene: SAMD9 was set to Unknown
Phenotypes for gene: SAMD9 were set to MIRAGE syndrome, MIM#617053
IBMDx study v0.0 RUNX1 Zornitza Stark gene: RUNX1 was added
gene: RUNX1 was added to IBMDx study. Sources: IBMDx Study,Expert Review Green
Mode of inheritance for gene: RUNX1 was set to Unknown
Phenotypes for gene: RUNX1 were set to Platelet disorder, familial, with associated myeloid malignancy, MIM# 601399
IBMDx study v0.0 RTEL1 Zornitza Stark gene: RTEL1 was added
gene: RTEL1 was added to IBMDx study. Sources: IBMDx Study,Expert Review Green
Mode of inheritance for gene: RTEL1 was set to Unknown
Phenotypes for gene: RTEL1 were set to Pulmonary fibrosis and/or bone marrow failure, telomere-related, 3, MIM# 616373; Dyskeratosis congenita, MIM# 615190
IBMDx study v0.0 RPS7 Zornitza Stark gene: RPS7 was added
gene: RPS7 was added to IBMDx study. Sources: IBMDx Study,Expert Review Green
Mode of inheritance for gene: RPS7 was set to Unknown
Phenotypes for gene: RPS7 were set to Diamond-Blackfan anemia 8, MIM# 612563; MONDO:0012939
IBMDx study v0.0 RPS29 Zornitza Stark gene: RPS29 was added
gene: RPS29 was added to IBMDx study. Sources: IBMDx Study,Expert Review Green
Mode of inheritance for gene: RPS29 was set to Unknown
Phenotypes for gene: RPS29 were set to Diamond-Blackfan anemia 13, MIM# 615909
IBMDx study v0.0 RPS27 Zornitza Stark gene: RPS27 was added
gene: RPS27 was added to IBMDx study. Sources: IBMDx Study,Expert Review Green
Mode of inheritance for gene: RPS27 was set to Unknown
Phenotypes for gene: RPS27 were set to Diamond-Blackfan anemia 17, MIM# 617409
IBMDx study v0.0 RPS26 Zornitza Stark gene: RPS26 was added
gene: RPS26 was added to IBMDx study. Sources: IBMDx Study,Expert Review Green
Mode of inheritance for gene: RPS26 was set to Unknown
Phenotypes for gene: RPS26 were set to MONDO:0013217; Diamond-Blackfan anemia 10, MIM# 613309
IBMDx study v0.0 RPS24 Zornitza Stark gene: RPS24 was added
gene: RPS24 was added to IBMDx study. Sources: IBMDx Study,Expert Review Green
Mode of inheritance for gene: RPS24 was set to Unknown
Phenotypes for gene: RPS24 were set to MONDO:0012529; Diamond-blackfan anemia 3, MIM# 610629
IBMDx study v0.0 RPS20 Zornitza Stark gene: RPS20 was added
gene: RPS20 was added to IBMDx study. Sources: IBMDx Study,Expert Review Green
Mode of inheritance for gene: RPS20 was set to Unknown
Phenotypes for gene: RPS20 were set to Diamond Blackfan anaemia
IBMDx study v0.0 RPS19 Zornitza Stark gene: RPS19 was added
gene: RPS19 was added to IBMDx study. Sources: IBMDx Study,Expert Review Green
Mode of inheritance for gene: RPS19 was set to Unknown
Phenotypes for gene: RPS19 were set to Diamond-Blackfan anemia 1, MIM# 105650; MONDO:0007110
IBMDx study v0.0 RPS17 Zornitza Stark gene: RPS17 was added
gene: RPS17 was added to IBMDx study. Sources: IBMDx Study,Expert Review Green
Mode of inheritance for gene: RPS17 was set to Unknown
Phenotypes for gene: RPS17 were set to Diamond-Blackfan anaemia 4, MIM# 612527; MONDO:0012924
IBMDx study v0.0 RPS10 Zornitza Stark gene: RPS10 was added
gene: RPS10 was added to IBMDx study. Sources: IBMDx Study,Expert Review Green
Mode of inheritance for gene: RPS10 was set to Unknown
Phenotypes for gene: RPS10 were set to Diamond-Blackfan anaemia 9, MIM# 613308
IBMDx study v0.0 RPL9 Zornitza Stark gene: RPL9 was added
gene: RPL9 was added to IBMDx study. Sources: IBMDx Study,Expert Review Green
Mode of inheritance for gene: RPL9 was set to Unknown
Phenotypes for gene: RPL9 were set to Diamond Blackfan anaemia
IBMDx study v0.0 RPL5 Zornitza Stark gene: RPL5 was added
gene: RPL5 was added to IBMDx study. Sources: IBMDx Study,Expert Review Green
Mode of inheritance for gene: RPL5 was set to Unknown
Phenotypes for gene: RPL5 were set to MONDO:0012937; Diamond-Blackfan anaemia 6, MIM# 612561
IBMDx study v0.0 RPL35A Zornitza Stark gene: RPL35A was added
gene: RPL35A was added to IBMDx study. Sources: IBMDx Study,Expert Review Green
Mode of inheritance for gene: RPL35A was set to Unknown
Phenotypes for gene: RPL35A were set to MONDO:0012925; Diamond-Blackfan anemia 5, MIM# 612528
IBMDx study v0.0 RPL31 Zornitza Stark gene: RPL31 was added
gene: RPL31 was added to IBMDx study. Sources: IBMDx Study,Expert Review Green
Mode of inheritance for gene: RPL31 was set to Unknown
Phenotypes for gene: RPL31 were set to Diamond Blackfan anaemia
IBMDx study v0.0 RPL27 Zornitza Stark gene: RPL27 was added
gene: RPL27 was added to IBMDx study. Sources: IBMDx Study,Expert Review Green
Mode of inheritance for gene: RPL27 was set to Unknown
Phenotypes for gene: RPL27 were set to Diamond-Blackfan anemia 16, MIM# 617408
IBMDx study v0.0 RPL26 Zornitza Stark gene: RPL26 was added
gene: RPL26 was added to IBMDx study. Sources: IBMDx Study,Expert Review Green
Mode of inheritance for gene: RPL26 was set to Unknown
Phenotypes for gene: RPL26 were set to Diamond-Blackfan anemia 11, MIM# 614900
IBMDx study v0.0 RPL15 Zornitza Stark gene: RPL15 was added
gene: RPL15 was added to IBMDx study. Sources: IBMDx Study,Expert Review Green
Mode of inheritance for gene: RPL15 was set to Unknown
Phenotypes for gene: RPL15 were set to Diamond-Blackfan anemia 12, MIM# 615550
IBMDx study v0.0 RPL11 Zornitza Stark gene: RPL11 was added
gene: RPL11 was added to IBMDx study. Sources: IBMDx Study,Expert Review Green
Mode of inheritance for gene: RPL11 was set to Unknown
Phenotypes for gene: RPL11 were set to Diamond-Blackfan anemia 7, MIM# 612562; MONDO:0012938
IBMDx study v0.0 RPA1 Zornitza Stark gene: RPA1 was added
gene: RPA1 was added to IBMDx study. Sources: IBMDx Study,Expert Review Green
Mode of inheritance for gene: RPA1 was set to Unknown
Phenotypes for gene: RPA1 were set to New TBD gene ASH 2020 St Judes
IBMDx study v0.0 RBM8A Zornitza Stark gene: RBM8A was added
gene: RBM8A was added to IBMDx study. Sources: IBMDx Study,Expert Review Green
Mode of inheritance for gene: RBM8A was set to Unknown
Phenotypes for gene: RBM8A were set to Thrombocytopenia-absent radius syndrome, MIM# 274000
IBMDx study v0.0 RAD51C Zornitza Stark gene: RAD51C was added
gene: RAD51C was added to IBMDx study. Sources: IBMDx Study,Expert Review Green
Mode of inheritance for gene: RAD51C was set to Unknown
Phenotypes for gene: RAD51C were set to Fanconi anemia, complementation group O, MIM# 613390
IBMDx study v0.0 PUS1 Zornitza Stark gene: PUS1 was added
gene: PUS1 was added to IBMDx study. Sources: IBMDx Study,Expert Review Green
Mode of inheritance for gene: PUS1 was set to Unknown
Phenotypes for gene: PUS1 were set to Myopathy, lactic acidosis, and sideroblastic anemia 1, MIM# 600462
IBMDx study v0.0 PARN Zornitza Stark gene: PARN was added
gene: PARN was added to IBMDx study. Sources: IBMDx Study,Expert Review Green
Mode of inheritance for gene: PARN was set to Unknown
Phenotypes for gene: PARN were set to Pulmonary fibrosis and/or bone marrow failure, telomere-related, 4, MIM# 616371; Dyskeratosis congenita, autosomal recessive 6, MIM# 616353
IBMDx study v0.0 PALB2 Zornitza Stark gene: PALB2 was added
gene: PALB2 was added to IBMDx study. Sources: IBMDx Study,Expert Review Green
Mode of inheritance for gene: PALB2 was set to Unknown
Phenotypes for gene: PALB2 were set to Fanconi anaemia, complementation group N, MIM# 610832
IBMDx study v0.0 NHP2 Zornitza Stark gene: NHP2 was added
gene: NHP2 was added to IBMDx study. Sources: IBMDx Study,Expert Review Green
Mode of inheritance for gene: NHP2 was set to Unknown
Phenotypes for gene: NHP2 were set to Dyskeratosis congenita, autosomal recessive 2, MIM# 613987
IBMDx study v0.0 NBEAL2 Zornitza Stark gene: NBEAL2 was added
gene: NBEAL2 was added to IBMDx study. Sources: IBMDx Study,Expert Review Green
Mode of inheritance for gene: NBEAL2 was set to Unknown
Phenotypes for gene: NBEAL2 were set to Gray platelet syndrome, MIM# 139090
IBMDx study v0.0 MYSM1 Zornitza Stark gene: MYSM1 was added
gene: MYSM1 was added to IBMDx study. Sources: IBMDx Study,Expert Review Green
Mode of inheritance for gene: MYSM1 was set to Unknown
Phenotypes for gene: MYSM1 were set to Bone marrow failure syndrome 4, MIM#618116
IBMDx study v0.0 MYH9 Zornitza Stark gene: MYH9 was added
gene: MYH9 was added to IBMDx study. Sources: IBMDx Study,Expert Review Green
Mode of inheritance for gene: MYH9 was set to Unknown
Phenotypes for gene: MYH9 were set to Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss, MIM# 155100
IBMDx study v0.0 MPL Zornitza Stark gene: MPL was added
gene: MPL was added to IBMDx study. Sources: IBMDx Study,Expert Review Green
Mode of inheritance for gene: MPL was set to Unknown
Phenotypes for gene: MPL were set to Thrombocythemia 2, MIM#601977, AD, SMu; Thrombocytopenia, congenital amegakaryocytic, MIM#604498, AR; Myelofibrosis with myeloid metaplasia, somatic, MIM#254450
IBMDx study v0.0 MECOM Zornitza Stark gene: MECOM was added
gene: MECOM was added to IBMDx study. Sources: IBMDx Study,Expert Review Green
Mode of inheritance for gene: MECOM was set to Unknown
Phenotypes for gene: MECOM were set to Radioulnar synostosis with amegakaryocytic thrombocytopenia 2, MIM#616738; Bone marrow failure without radioulnar synostosis (RUS)
IBMDx study v0.0 LYST Zornitza Stark gene: LYST was added
gene: LYST was added to IBMDx study. Sources: IBMDx Study,Expert Review Green
Mode of inheritance for gene: LYST was set to Unknown
Phenotypes for gene: LYST were set to Chediak-Higashi syndrome (CHS)
IBMDx study v0.0 LIG4 Zornitza Stark gene: LIG4 was added
gene: LIG4 was added to IBMDx study. Sources: IBMDx Study,Expert Review Green
Mode of inheritance for gene: LIG4 was set to Unknown
Phenotypes for gene: LIG4 were set to LIG4 syndrome, MIM# 606593; DNA ligase IV deficiency, MONDO:0011686
IBMDx study v0.0 KLF1 Zornitza Stark gene: KLF1 was added
gene: KLF1 was added to IBMDx study. Sources: IBMDx Study,Expert Review Green
Mode of inheritance for gene: KLF1 was set to Unknown
Phenotypes for gene: KLF1 were set to MONDO:0013355; Dyserythropoietic anaemia, congenital, type IV, MIM# 613673
IBMDx study v0.0 JAGN1 Zornitza Stark gene: JAGN1 was added
gene: JAGN1 was added to IBMDx study. Sources: IBMDx Study,Expert Review Green
Mode of inheritance for gene: JAGN1 was set to Unknown
Phenotypes for gene: JAGN1 were set to Neutropenia, severe congenital, 6, autosomal recessive, MIM# 616022
IBMDx study v0.0 ITGB3 Zornitza Stark gene: ITGB3 was added
gene: ITGB3 was added to IBMDx study. Sources: IBMDx Study,Expert Review Green
Mode of inheritance for gene: ITGB3 was set to Unknown
Phenotypes for gene: ITGB3 were set to Glanzmann thrombasthenia, Platelet-type bleeding disorder 16
IBMDx study v0.0 ITGA2B Zornitza Stark gene: ITGA2B was added
gene: ITGA2B was added to IBMDx study. Sources: IBMDx Study,Expert Review Green
Mode of inheritance for gene: ITGA2B was set to Unknown
Phenotypes for gene: ITGA2B were set to Glanzmann thrombasthenia, Platelet-type bleeding disorder 16
IBMDx study v0.0 HOXA11 Zornitza Stark gene: HOXA11 was added
gene: HOXA11 was added to IBMDx study. Sources: IBMDx Study,Expert Review Green
Mode of inheritance for gene: HOXA11 was set to Unknown
Phenotypes for gene: HOXA11 were set to Radioulnar synostosis with amegakaryocytic thrombocytopenia 1, MIM# 605432
IBMDx study v0.0 HAX1 Zornitza Stark gene: HAX1 was added
gene: HAX1 was added to IBMDx study. Sources: IBMDx Study,Expert Review Green
Mode of inheritance for gene: HAX1 was set to Unknown
Phenotypes for gene: HAX1 were set to Kostmann syndrome MONDO:0012548; Neutropaenia, severe congenital 3, autosomal recessive, MIM# 610738
IBMDx study v0.0 GP9 Zornitza Stark gene: GP9 was added
gene: GP9 was added to IBMDx study. Sources: IBMDx Study,Expert Review Green
Mode of inheritance for gene: GP9 was set to Unknown
Phenotypes for gene: GP9 were set to Bernard-Soulier syndrome (BSS)
IBMDx study v0.0 GP1BB Zornitza Stark gene: GP1BB was added
gene: GP1BB was added to IBMDx study. Sources: IBMDx Study,Expert Review Green
Mode of inheritance for gene: GP1BB was set to Unknown
Phenotypes for gene: GP1BB were set to Bernard-Soulier syndrome (BSS)
IBMDx study v0.0 GP1BA Zornitza Stark gene: GP1BA was added
gene: GP1BA was added to IBMDx study. Sources: IBMDx Study,Expert Review Green
Mode of inheritance for gene: GP1BA was set to Unknown
Phenotypes for gene: GP1BA were set to Bernard-Soulier syndrome (BSS)
IBMDx study v0.0 GLRX5 Zornitza Stark gene: GLRX5 was added
gene: GLRX5 was added to IBMDx study. Sources: IBMDx Study,Expert Review Green
Mode of inheritance for gene: GLRX5 was set to Unknown
Phenotypes for gene: GLRX5 were set to Anaemia, sideroblastic, 3, pyridoxine-refractory, MIM# 616860
IBMDx study v0.0 GFI1B Zornitza Stark gene: GFI1B was added
gene: GFI1B was added to IBMDx study. Sources: IBMDx Study,Expert Review Green
Mode of inheritance for gene: GFI1B was set to Unknown
Phenotypes for gene: GFI1B were set to Bleeding disorder, platelet-type, 17
IBMDx study v0.0 GFI1 Zornitza Stark gene: GFI1 was added
gene: GFI1 was added to IBMDx study. Sources: IBMDx Study,Expert Review Green
Mode of inheritance for gene: GFI1 was set to Unknown
Phenotypes for gene: GFI1 were set to Neutropenia, severe congenital 2, autosomal dominant, MIM# 613107
IBMDx study v0.0 GATA2 Zornitza Stark gene: GATA2 was added
gene: GATA2 was added to IBMDx study. Sources: IBMDx Study,Expert Review Green
Mode of inheritance for gene: GATA2 was set to Unknown
Phenotypes for gene: GATA2 were set to GATA2 deficiency with susceptibility to MDS/AML MONDO:0042982; Immunodeficiency 21, MIM# 614172; Emberger syndrome, MIM# 614038; Deafness-lymphoedema-leukaemia syndrome MONDO:0013540
IBMDx study v0.0 GATA1 Zornitza Stark gene: GATA1 was added
gene: GATA1 was added to IBMDx study. Sources: IBMDx Study,Expert Review Green
Mode of inheritance for gene: GATA1 was set to Unknown
Phenotypes for gene: GATA1 were set to Thrombocytopaenia, X-linked, with or without dyserythropoietic anaemia, MIM# 300367
IBMDx study v0.0 G6PC3 Zornitza Stark gene: G6PC3 was added
gene: G6PC3 was added to IBMDx study. Sources: IBMDx Study,Expert Review Green
Mode of inheritance for gene: G6PC3 was set to Unknown
Phenotypes for gene: G6PC3 were set to Dursun syndrome, MIM# 612541; MONDO:0012930; Neutropenia, severe congenital 4, autosomal recessive, MIM# 612541
IBMDx study v0.0 FLI1 Zornitza Stark gene: FLI1 was added
gene: FLI1 was added to IBMDx study. Sources: IBMDx Study,Expert Review Green
Mode of inheritance for gene: FLI1 was set to Unknown
Phenotypes for gene: FLI1 were set to Paris-Trousseau thrombocytopenia and Jacobson syndrome
IBMDx study v0.0 FANCM Zornitza Stark gene: FANCM was added
gene: FANCM was added to IBMDx study. Sources: IBMDx Study,Expert Review Green
Mode of inheritance for gene: FANCM was set to Unknown
Phenotypes for gene: FANCM were set to Fanconi anaemia
IBMDx study v0.0 FANCL Zornitza Stark gene: FANCL was added
gene: FANCL was added to IBMDx study. Sources: IBMDx Study,Expert Review Green
Mode of inheritance for gene: FANCL was set to Unknown
Phenotypes for gene: FANCL were set to Fanconi anemia, complementation group L, MIM# 614083; MONDO:0013566
IBMDx study v0.0 FANCI Zornitza Stark gene: FANCI was added
gene: FANCI was added to IBMDx study. Sources: IBMDx Study,Expert Review Green
Mode of inheritance for gene: FANCI was set to Unknown
Phenotypes for gene: FANCI were set to Fanconi anemia, complementation group I, MIM# 609053; MONDO:0012186
IBMDx study v0.0 FANCG Zornitza Stark gene: FANCG was added
gene: FANCG was added to IBMDx study. Sources: IBMDx Study,Expert Review Green
Mode of inheritance for gene: FANCG was set to Unknown
Phenotypes for gene: FANCG were set to MONDO:0013565; Fanconi anaemia, complementation group G, MIM# 614082
IBMDx study v0.0 FANCF Zornitza Stark gene: FANCF was added
gene: FANCF was added to IBMDx study. Sources: IBMDx Study,Expert Review Green
Mode of inheritance for gene: FANCF was set to Unknown
Phenotypes for gene: FANCF were set to Fanconi anaemia, complementation group F 603467; MONDO:0011325
IBMDx study v0.0 FANCE Zornitza Stark gene: FANCE was added
gene: FANCE was added to IBMDx study. Sources: IBMDx Study,Expert Review Green
Mode of inheritance for gene: FANCE was set to Unknown
Phenotypes for gene: FANCE were set to Fanconi anaemia, complementation group E, MIM# 600901; MONDO:0010953
IBMDx study v0.0 FANCD2 Zornitza Stark gene: FANCD2 was added
gene: FANCD2 was added to IBMDx study. Sources: IBMDx Study,Expert Review Green
Mode of inheritance for gene: FANCD2 was set to Unknown
Phenotypes for gene: FANCD2 were set to Fanconi anaemia, complementation group D2, MIM# 227646; MONDO:0009214
IBMDx study v0.0 FANCC Zornitza Stark gene: FANCC was added
gene: FANCC was added to IBMDx study. Sources: IBMDx Study,Expert Review Green
Mode of inheritance for gene: FANCC was set to Unknown
Phenotypes for gene: FANCC were set to MONDO:0009213; Fanconi anemia, complementation group C, MIM# 227645
IBMDx study v0.0 FANCB Zornitza Stark gene: FANCB was added
gene: FANCB was added to IBMDx study. Sources: IBMDx Study,Expert Review Green
Mode of inheritance for gene: FANCB was set to Unknown
Phenotypes for gene: FANCB were set to Fanconi anaemia, complementation group B, MIM# 300514
IBMDx study v0.0 FANCA Zornitza Stark gene: FANCA was added
gene: FANCA was added to IBMDx study. Sources: IBMDx Study,Expert Review Green
Mode of inheritance for gene: FANCA was set to Unknown
Phenotypes for gene: FANCA were set to MONDO:0009215; Fanconi anaemia, complementation group A, MIM# 227650
IBMDx study v0.0 ETV6 Zornitza Stark gene: ETV6 was added
gene: ETV6 was added to IBMDx study. Sources: IBMDx Study,Expert Review Green
Mode of inheritance for gene: ETV6 was set to Unknown
Phenotypes for gene: ETV6 were set to Thrombocytopenia 5, MIM# 616216
IBMDx study v0.0 ERCC6L2 Zornitza Stark gene: ERCC6L2 was added
gene: ERCC6L2 was added to IBMDx study. Sources: IBMDx Study,Expert Review Green
Mode of inheritance for gene: ERCC6L2 was set to Unknown
Phenotypes for gene: ERCC6L2 were set to Bone marrow failure syndrome 2, MIM# 615715
IBMDx study v0.0 ERCC4 Zornitza Stark gene: ERCC4 was added
gene: ERCC4 was added to IBMDx study. Sources: IBMDx Study,Expert Review Green
Mode of inheritance for gene: ERCC4 was set to Unknown
Phenotypes for gene: ERCC4 were set to Fanconi anemia, complementation group Q, MIM# 615272
IBMDx study v0.0 ELANE Zornitza Stark gene: ELANE was added
gene: ELANE was added to IBMDx study. Sources: IBMDx Study,Expert Review Green
Mode of inheritance for gene: ELANE was set to Unknown
Phenotypes for gene: ELANE were set to Neutropenia, severe congenital 1, autosomal dominant, MIM# 202700
IBMDx study v0.0 EFL1 Zornitza Stark gene: EFL1 was added
gene: EFL1 was added to IBMDx study. Sources: IBMDx Study,Expert Review Green
Mode of inheritance for gene: EFL1 was set to Unknown
Phenotypes for gene: EFL1 were set to Shwachman-Diamond syndrome 2, MIM# 617941
IBMDx study v0.0 DNAJC21 Zornitza Stark gene: DNAJC21 was added
gene: DNAJC21 was added to IBMDx study. Sources: IBMDx Study,Expert Review Green
Mode of inheritance for gene: DNAJC21 was set to Unknown
Phenotypes for gene: DNAJC21 were set to Bone marrow failure syndrome 3, MIM# 617052
IBMDx study v0.0 DKC1 Zornitza Stark gene: DKC1 was added
gene: DKC1 was added to IBMDx study. Sources: IBMDx Study,Expert Review Green
Mode of inheritance for gene: DKC1 was set to Unknown
Phenotypes for gene: DKC1 were set to Hoyeraal-Hreidarsson Syndrome; Dyskeratosis congenita, X-linked 305000
IBMDx study v0.0 DIAPH1 Zornitza Stark gene: DIAPH1 was added
gene: DIAPH1 was added to IBMDx study. Sources: IBMDx Study,Expert Review Green
Mode of inheritance for gene: DIAPH1 was set to Unknown
Phenotypes for gene: DIAPH1 were set to Macrothrombocytopenia and sensorineural hearing loss
IBMDx study v0.0 DDX41 Zornitza Stark gene: DDX41 was added
gene: DDX41 was added to IBMDx study. Sources: IBMDx Study,Expert Review Green
Mode of inheritance for gene: DDX41 was set to Unknown
Phenotypes for gene: DDX41 were set to {Myeloproliferative/lymphoproliferative neoplasms, familial (multiple types), susceptibility to} MIM# 616871
IBMDx study v0.0 CYCS Zornitza Stark gene: CYCS was added
gene: CYCS was added to IBMDx study. Sources: IBMDx Study,Expert Review Green
Mode of inheritance for gene: CYCS was set to Unknown
Phenotypes for gene: CYCS were set to Autosomal dominant thrombocytopenia 4
IBMDx study v0.0 CXCR4 Zornitza Stark gene: CXCR4 was added
gene: CXCR4 was added to IBMDx study. Sources: IBMDx Study,Expert Review Green
Mode of inheritance for gene: CXCR4 was set to Unknown
Phenotypes for gene: CXCR4 were set to WHIM syndrome, MIM# 193670
IBMDx study v0.0 CTC1 Zornitza Stark gene: CTC1 was added
gene: CTC1 was added to IBMDx study. Sources: IBMDx Study,Expert Review Green
Mode of inheritance for gene: CTC1 was set to Unknown
Phenotypes for gene: CTC1 were set to Cerebroretinal microangiopathy with calcifications and cysts, MIM# 612199
IBMDx study v0.0 CSF3R Zornitza Stark gene: CSF3R was added
gene: CSF3R was added to IBMDx study. Sources: IBMDx Study,Expert Review Green
Mode of inheritance for gene: CSF3R was set to Unknown
Phenotypes for gene: CSF3R were set to Neutropaenia, severe congenital, 7, autosomal recessive, MIM# 617014
IBMDx study v0.0 CDC42 Zornitza Stark gene: CDC42 was added
gene: CDC42 was added to IBMDx study. Sources: IBMDx Study,Expert Review Green
Mode of inheritance for gene: CDC42 was set to Unknown
Phenotypes for gene: CDC42 were set to Takenouchi-Kosaki syndrome with thrombocytopenia
IBMDx study v0.0 CDAN1 Zornitza Stark gene: CDAN1 was added
gene: CDAN1 was added to IBMDx study. Sources: IBMDx Study,Expert Review Green
Mode of inheritance for gene: CDAN1 was set to Unknown
Phenotypes for gene: CDAN1 were set to Dyserythropoietic anemia, congenital, type Ia, 224120
IBMDx study v0.0 C15orf41 Zornitza Stark gene: C15orf41 was added
gene: C15orf41 was added to IBMDx study. Sources: IBMDx Study,Expert Review Green
Mode of inheritance for gene: C15orf41 was set to Unknown
Phenotypes for gene: C15orf41 were set to Dyserythropoietic anemia, congenital, type Ib, MIM# 615631
IBMDx study v0.0 ANKRD26 Zornitza Stark gene: ANKRD26 was added
gene: ANKRD26 was added to IBMDx study. Sources: IBMDx Study,Expert Review Green
Mode of inheritance for gene: ANKRD26 was set to Unknown
Phenotypes for gene: ANKRD26 were set to Thrombocytopaenia 2, MIM# 188000
IBMDx study v0.0 ALAS2 Zornitza Stark gene: ALAS2 was added
gene: ALAS2 was added to IBMDx study. Sources: IBMDx Study,Expert Review Green
Mode of inheritance for gene: ALAS2 was set to Unknown
Phenotypes for gene: ALAS2 were set to Anemia, sideroblastic, 1, MIM# 300751
IBMDx study v0.0 AK2 Zornitza Stark gene: AK2 was added
gene: AK2 was added to IBMDx study. Sources: IBMDx Study,Expert Review Green
Mode of inheritance for gene: AK2 was set to Unknown
Phenotypes for gene: AK2 were set to MONDO:0009973; Reticular dysgenesis, MIM# 267500
IBMDx study v0.0 ADH5 Zornitza Stark gene: ADH5 was added
gene: ADH5 was added to IBMDx study. Sources: IBMDx Study,Expert Review Green
Mode of inheritance for gene: ADH5 was set to Unknown
Phenotypes for gene: ADH5 were set to AMED syndrome, digenic, MIM# 619151; short stature; Aplastic anaemia; myelodysplasia
IBMDx study v0.0 ADA2 Zornitza Stark gene: ADA2 was added
gene: ADA2 was added to IBMDx study. Sources: IBMDx Study,Expert Review Green
Mode of inheritance for gene: ADA2 was set to Unknown
Phenotypes for gene: ADA2 were set to Vasculitis, autoinflammation, immunodeficiency, and haematologic defects syndrome, MIM# 615688
IBMDx study v0.0 ACTN1 Zornitza Stark gene: ACTN1 was added
gene: ACTN1 was added to IBMDx study. Sources: IBMDx Study,Expert Review Green
Mode of inheritance for gene: ACTN1 was set to Unknown
Phenotypes for gene: ACTN1 were set to ACTN1 related thrombocytopenia
IBMDx study v0.0 ABCB7 Zornitza Stark gene: ABCB7 was added
gene: ABCB7 was added to IBMDx study. Sources: IBMDx Study,Expert Review Green
Mode of inheritance for gene: ABCB7 was set to Unknown
Phenotypes for gene: ABCB7 were set to Anemia, sideroblastic, with ataxia, MIM# 301310