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IBMDx study v0.33 ACKR1 Zornitza Stark edited their review of gene: ACKR1: Changed mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
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 v0.32 ACKR1 Zornitza Stark Marked gene: ACKR1 as ready
IBMDx study v0.32 ACKR1 Zornitza Stark Gene: ackr1 has been classified as Amber List (Moderate Evidence).
IBMDx study v0.32 ACKR1 Zornitza Stark Classified gene: ACKR1 as Amber List (moderate evidence)
IBMDx study v0.32 ACKR1 Zornitza Stark Gene: ackr1 has been classified as Amber List (Moderate Evidence).
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 v0.30 PUS1 Zornitza Stark Marked gene: PUS1 as ready
IBMDx study v0.30 PUS1 Zornitza Stark Gene: pus1 has been classified as Green List (High Evidence).
IBMDx study v0.30 PUS1 Zornitza Stark Publications for gene: PUS1 were set to
IBMDx study v0.29 PUS1 Zornitza Stark Mode of inheritance for gene: PUS1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
IBMDx study v0.28 KLF1 Zornitza Stark Marked gene: KLF1 as ready
IBMDx study v0.28 KLF1 Zornitza Stark Gene: klf1 has been classified as Green List (High Evidence).
IBMDx study v0.28 KLF1 Zornitza Stark Phenotypes for gene: KLF1 were changed from MONDO:0013355; Dyserythropoietic anaemia, congenital, type IV, MIM# 613673 to Dyserythropoietic anaemia, congenital, type IV, MIM# 613673; MONDO:0013355; Anaemia, congenital dyserythropoietic, type IVb, MIM#620969
IBMDx study v0.27 KLF1 Zornitza Stark Publications for gene: KLF1 were set to
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 v0.25 KLF1 Zornitza Stark edited their review of gene: KLF1: Added comment: Ten individuals reported with bi-allelic variants and congenital dyserythropoietic anaemia.; Changed publications: 21055716, 33339573, 32815883, 32221653, 32032242, 31818881, 24443441, 25724378, 28361594, 34554218; Changed phenotypes: Dyserythropoietic anaemia, congenital, type IV, MIM# 613673, MONDO:0013355, Anaemia, congenital dyserythropoietic, type IVb, MIM#620969; Changed mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
IBMDx study v0.25 LIG4 Zornitza Stark Marked gene: LIG4 as ready
IBMDx study v0.25 LIG4 Zornitza Stark Gene: lig4 has been classified as Green List (High Evidence).
IBMDx study v0.25 LIG4 Zornitza Stark Publications for gene: LIG4 were set to
IBMDx study v0.24 LIG4 Zornitza Stark Mode of inheritance for gene: LIG4 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
IBMDx study v0.23 LIG4 Santosh Varughese reviewed gene: LIG4: Rating: GREEN; Mode of pathogenicity: Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments; Publications: 16088910, 9823897, 10911993, 15333585, 9809069, 12023982, 11040211, 15175260, 19451691, 17554302, 11779494; Phenotypes: LIG4 SYNDROME, MULTIPLE MYELOMA, RESISTANCE TO; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
IBMDx study v0.23 ELANE Zornitza Stark Marked gene: ELANE as ready
IBMDx study v0.23 ELANE Zornitza Stark Gene: elane has been classified as Green List (High Evidence).
IBMDx study v0.23 ELANE Zornitza Stark Publications for gene: ELANE were set to
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 v0.20 ELANE Zornitza Stark edited their review of gene: ELANE: Changed mode of pathogenicity: Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments
IBMDx study v0.20 RPA1 Zornitza Stark Marked gene: RPA1 as ready
IBMDx study v0.20 RPA1 Zornitza Stark Gene: rpa1 has been classified as Green List (High Evidence).
IBMDx study v0.20 RPA1 Zornitza Stark Phenotypes for gene: RPA1 were changed from New TBD gene ASH 2020 St Judes to Pulmonary fibrosis and/or bone marrow failure, telomere-related, 6, MIM# 619767; Bone marrow failure; T- and B-cell lymphopaenia; pulmonary fibrosis; skin manifestations; short telomeres
IBMDx study v0.19 RPA1 Zornitza Stark Publications for gene: RPA1 were set to
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 v0.16 RPA1 Zornitza Stark edited their review of gene: RPA1: Changed phenotypes: Pulmonary fibrosis and/or bone marrow failure, telomere-related, 6, MIM# 619767, Bone marrow failure, T- and B-cell lymphopaenia, pulmonary fibrosis, skin manifestations, short telomeres
IBMDx study v0.16 Zornitza Stark Panel types changed to Victorian Clinical Genetics Services; Research
IBMDx study v0.15 RPL27 Zornitza Stark Marked gene: RPL27 as ready
IBMDx study v0.15 RPL27 Zornitza Stark Gene: rpl27 has been classified as Amber List (Moderate Evidence).
IBMDx study v0.15 RPL27 Zornitza Stark Publications for gene: RPL27 were set to
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 v0.13 RPL27 Zornitza Stark Classified gene: RPL27 as Amber List (moderate evidence)
IBMDx study v0.13 RPL27 Zornitza Stark Gene: rpl27 has been classified as Amber List (Moderate Evidence).
IBMDx study v0.12 RPL26 Zornitza Stark Marked gene: RPL26 as ready
IBMDx study v0.12 RPL26 Zornitza Stark Gene: rpl26 has been classified as Amber List (Moderate Evidence).
IBMDx study v0.12 RPL26 Zornitza Stark Publications for gene: RPL26 were set to
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 v0.9 RPL26 Zornitza Stark Classified gene: RPL26 as Amber List (moderate evidence)
IBMDx study v0.9 RPL26 Zornitza Stark Gene: rpl26 has been classified as Amber List (Moderate Evidence).
IBMDx study v0.8 FANCM Zornitza Stark Marked gene: FANCM as ready
IBMDx study v0.8 FANCM Zornitza Stark Gene: fancm has been classified as Amber List (Moderate Evidence).
IBMDx study v0.8 FANCM Zornitza Stark Phenotypes for gene: FANCM were changed from Fanconi anaemia to FA-like syndromes, chemotherapy toxicity
IBMDx study v0.7 FANCM Zornitza Stark Publications for gene: FANCM were set to
IBMDx study v0.6 FANCM Zornitza Stark Mode of inheritance for gene: FANCM was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
IBMDx study v0.5 FANCM Zornitza Stark Classified gene: FANCM as Amber List (moderate evidence)
IBMDx study v0.5 FANCM Zornitza Stark Gene: fancm has been classified as Amber List (Moderate Evidence).
IBMDx study v0.4 CXCR4 Zornitza Stark Marked gene: CXCR4 as ready
IBMDx study v0.4 CXCR4 Zornitza Stark Gene: cxcr4 has been classified as Green List (High Evidence).
IBMDx study v0.4 CXCR4 Zornitza Stark Publications for gene: CXCR4 were set to
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 v0.2 RPS27 vahid pazhakh reviewed gene: RPS27: Rating: AMBER; Mode of pathogenicity: None; Publications: Publications (PMID: 25424902); Phenotypes: Diamond-Blackfan anemia 17, MIM# 617409; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
IBMDx study v0.2 RPL27 vahid pazhakh reviewed gene: RPL27: Rating: AMBER; Mode of pathogenicity: None; Publications: Publications (PMID: 25424902); Phenotypes: Diamond-Blackfan anemia 16, MIM# 617408; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
IBMDx study v0.2 RPL26 vahid pazhakh reviewed gene: RPL26: Rating: AMBER; Mode of pathogenicity: Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments; Publications: Publications (PMID: 22431104); Phenotypes: Diamond-Blackfan anemia 11, MIM# 614900; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
IBMDx study v0.2 FANCM vahid pazhakh reviewed gene: FANCM: Rating: AMBER; Mode of pathogenicity: None; Publications: Publications (PMID: 28837162, 28837157, 34793962, 31942822, 19423727, 19561169, 25010009); Phenotypes: FA-like syndromes, mainly characterized by increased risk for breast and other types of cancer, and chemotherapy toxicity; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
IBMDx study v0.2 CXCR4 vahid pazhakh reviewed gene: CXCR4: Rating: GREEN; Mode of pathogenicity: None; Publications: Publications (PMID: 12692554, 15536153, 23009155, 18274673, 28928741, 16946301, 17715292); Phenotypes: WHIM syndrome, MIM# 193670; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
IBMDx study v0.0 ABCB7 Zornitza Stark reviewed gene: ABCB7: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Anemia, sideroblastic, with ataxia, MIM# 301310; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
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
IBMDx study v0.0 Zornitza Stark Added panel IBMDx study