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IBMDx study v1.0 FANCM Gene migrated from ENSG00000187790 to ENSG00000187790 (gene set migration)
IBMDx study v1.0 ACKR1 Gene migrated from ENSG00000213088 to ENSG00000213088 (gene set migration)
IBMDx study v1.0 RPL26 Gene migrated from ENSG00000161970 to ENSG00000161970 (gene set migration)
IBMDx study v1.0 RPL27 Gene migrated from ENSG00000131469 to ENSG00000131469 (gene set migration)
IBMDx study v1.0 PUS1 Gene migrated from ENSG00000177192 to ENSG00000177192 (gene set migration)
IBMDx study v1.0 LIG4 Gene migrated from ENSG00000174405 to ENSG00000174405 (gene set migration)
IBMDx study v1.0 KLF1 Gene migrated from ENSG00000105610 to ENSG00000105610 (gene set migration)
IBMDx study v1.0 ELANE Gene migrated from ENSG00000197561 to ENSG00000197561 (gene set migration)
IBMDx study v1.0 RPA1 Gene migrated from ENSG00000132383 to ENSG00000132383 (gene set migration)
IBMDx study v1.0 XRCC2 Gene migrated from ENSG00000196584 to ENSG00000196584 (gene set migration)
IBMDx study v1.0 WRAP53 Gene migrated from ENSG00000141499 to ENSG00000141499 (gene set migration)
IBMDx study v1.0 WIPF1 Gene migrated from ENSG00000115935 to ENSG00000115935 (gene set migration)
IBMDx study v1.0 WAS Gene migrated from ENSG00000015285 to ENSG00000015285 (gene set migration)
IBMDx study v1.0 VPS45 Gene migrated from ENSG00000136631 to ENSG00000136631 (gene set migration)
IBMDx study v1.0 UBE2T Gene migrated from ENSG00000077152 to ENSG00000077152 (gene set migration)
IBMDx study v1.0 TINF2 Gene migrated from ENSG00000092330 to ENSG00000092330 (gene set migration)
IBMDx study v1.0 THPO Gene migrated from ENSG00000090534 to ENSG00000090534 (gene set migration)
IBMDx study v1.0 TERT Gene migrated from ENSG00000164362 to ENSG00000164362 (gene set migration)
IBMDx study v1.0 SLX4 Gene migrated from ENSG00000188827 to ENSG00000188827 (gene set migration)
IBMDx study v1.0 SLC25A38 Gene migrated from ENSG00000144659 to ENSG00000144659 (gene set migration)
IBMDx study v1.0 SLC19A2 Gene migrated from ENSG00000117479 to ENSG00000117479 (gene set migration)
IBMDx study v1.0 SEC23B Gene migrated from ENSG00000101310 to ENSG00000101310 (gene set migration)
IBMDx study v1.0 SBDS Gene migrated from ENSG00000126524 to ENSG00000126524 (gene set migration)
IBMDx study v1.0 SAMD9L Gene migrated from ENSG00000177409 to ENSG00000177409 (gene set migration)
IBMDx study v1.0 SAMD9 Gene migrated from ENSG00000205413 to ENSG00000205413 (gene set migration)
IBMDx study v1.0 RUNX1 Gene migrated from ENSG00000159216 to ENSG00000159216 (gene set migration)
IBMDx study v1.0 RTEL1 Gene migrated from ENSG00000258366 to ENSG00000258366 (gene set migration)
IBMDx study v1.0 SRP54 Gene migrated from ENSG00000100883 to ENSG00000100883 (gene set migration)
IBMDx study v1.0 ACTN1 Gene migrated from ENSG00000072110 to ENSG00000072110 (gene set migration)
IBMDx study v1.0 ABCB7 Gene migrated from ENSG00000131269 to ENSG00000131269 (gene set migration)
IBMDx study v1.0 CXCR4 Gene migrated from ENSG00000121966 to ENSG00000121966 (gene set migration)
IBMDx study v1.0 RPS7 Gene migrated from ENSG00000171863 to ENSG00000171863 (gene set migration)
IBMDx study v1.0 RPS29 Gene migrated from ENSG00000213741 to ENSG00000213741 (gene set migration)
IBMDx study v1.0 RPS27 Gene migrated from ENSG00000177954 to ENSG00000177954 (gene set migration)
IBMDx study v1.0 RPS26 Gene migrated from ENSG00000197728 to ENSG00000197728 (gene set migration)
IBMDx study v1.0 RPS24 Gene migrated from ENSG00000138326 to ENSG00000138326 (gene set migration)
IBMDx study v1.0 RPS20 Gene migrated from ENSG00000008988 to ENSG00000008988 (gene set migration)
IBMDx study v1.0 RPS19 Gene migrated from ENSG00000105372 to ENSG00000105372 (gene set migration)
IBMDx study v1.0 RPS17 Gene migrated from ENSG00000182774 to ENSG00000182774 (gene set migration)
IBMDx study v1.0 RPS10 Gene migrated from ENSG00000124614 to ENSG00000124614 (gene set migration)
IBMDx study v1.0 RPL9 Gene migrated from ENSG00000163682 to ENSG00000163682 (gene set migration)
IBMDx study v1.0 RPL5 Gene migrated from ENSG00000122406 to ENSG00000122406 (gene set migration)
IBMDx study v1.0 RPL35A Gene migrated from ENSG00000182899 to ENSG00000182899 (gene set migration)
IBMDx study v1.0 RPL31 Gene migrated from ENSG00000071082 to ENSG00000071082 (gene set migration)
IBMDx study v1.0 CSF3R Gene migrated from ENSG00000119535 to ENSG00000119535 (gene set migration)
IBMDx study v1.0 DIAPH1 Gene migrated from ENSG00000131504 to ENSG00000131504 (gene set migration)
IBMDx study v1.0 ADA2 Gene migrated from ENSG00000093072 to ENSG00000093072 (gene set migration)
IBMDx study v1.0 TERC Gene migrated from ENSG00000270141 to ENSG00000270141 (gene set migration)
IBMDx study v1.0 RPL15 Gene migrated from ENSG00000174748 to ENSG00000174748 (gene set migration)
IBMDx study v1.0 RPL11 Gene migrated from ENSG00000142676 to ENSG00000142676 (gene set migration)
IBMDx study v1.0 RBM8A Gene migrated from ENSG00000265241 to ENSG00000265241 (gene set migration)
IBMDx study v1.0 RAD51C Gene migrated from ENSG00000108384 to ENSG00000108384 (gene set migration)
IBMDx study v1.0 PARN Gene migrated from ENSG00000140694 to ENSG00000140694 (gene set migration)
IBMDx study v1.0 PALB2 Gene migrated from ENSG00000083093 to ENSG00000083093 (gene set migration)
IBMDx study v1.0 NHP2 Gene migrated from ENSG00000145912 to ENSG00000145912 (gene set migration)
IBMDx study v1.0 NBEAL2 Gene migrated from ENSG00000160796 to ENSG00000160796 (gene set migration)
IBMDx study v1.0 MYSM1 Gene migrated from ENSG00000162601 to ENSG00000162601 (gene set migration)
IBMDx study v1.0 MYH9 Gene migrated from ENSG00000100345 to ENSG00000100345 (gene set migration)
IBMDx study v1.0 MPL Gene migrated from ENSG00000117400 to ENSG00000117400 (gene set migration)
IBMDx study v1.0 DDX41 Gene migrated from ENSG00000183258 to ENSG00000183258 (gene set migration)
IBMDx study v1.0 MECOM Gene migrated from ENSG00000085276 to ENSG00000085276 (gene set migration)
IBMDx study v1.0 LYST Gene migrated from ENSG00000143669 to ENSG00000143669 (gene set migration)
IBMDx study v1.0 JAGN1 Gene migrated from ENSG00000171135 to ENSG00000171135 (gene set migration)
IBMDx study v1.0 ITGB3 Gene migrated from ENSG00000259207 to ENSG00000259207 (gene set migration)
IBMDx study v1.0 ITGA2B Gene migrated from ENSG00000005961 to ENSG00000005961 (gene set migration)
IBMDx study v1.0 HOXA11 Gene migrated from ENSG00000005073 to ENSG00000005073 (gene set migration)
IBMDx study v1.0 HAX1 Gene migrated from ENSG00000143575 to ENSG00000143575 (gene set migration)
IBMDx study v1.0 GP9 Gene migrated from ENSG00000169704 to ENSG00000169704 (gene set migration)
IBMDx study v1.0 GP1BA Gene migrated from ENSG00000185245 to ENSG00000185245 (gene set migration)
IBMDx study v1.0 GLRX5 Gene migrated from ENSG00000182512 to ENSG00000182512 (gene set migration)
IBMDx study v1.0 GFI1B Gene migrated from ENSG00000165702 to ENSG00000165702 (gene set migration)
IBMDx study v1.0 GFI1 Gene migrated from ENSG00000162676 to ENSG00000162676 (gene set migration)
IBMDx study v1.0 GATA2 Gene migrated from ENSG00000179348 to ENSG00000179348 (gene set migration)
IBMDx study v1.0 GATA1 Gene migrated from ENSG00000102145 to ENSG00000102145 (gene set migration)
IBMDx study v1.0 G6PC3 Gene migrated from ENSG00000141349 to ENSG00000141349 (gene set migration)
IBMDx study v1.0 FLI1 Gene migrated from ENSG00000151702 to ENSG00000151702 (gene set migration)
IBMDx study v1.0 FANCL Gene migrated from ENSG00000115392 to ENSG00000115392 (gene set migration)
IBMDx study v1.0 FANCI Gene migrated from ENSG00000140525 to ENSG00000140525 (gene set migration)
IBMDx study v1.0 FANCG Gene migrated from ENSG00000221829 to ENSG00000221829 (gene set migration)
IBMDx study v1.0 FANCF Gene migrated from ENSG00000183161 to ENSG00000183161 (gene set migration)
IBMDx study v1.0 FANCE Gene migrated from ENSG00000112039 to ENSG00000112039 (gene set migration)
IBMDx study v1.0 FANCD2 Gene migrated from ENSG00000144554 to ENSG00000144554 (gene set migration)
IBMDx study v1.0 FANCC Gene migrated from ENSG00000158169 to ENSG00000158169 (gene set migration)
IBMDx study v1.0 FANCB Gene migrated from ENSG00000181544 to ENSG00000181544 (gene set migration)
IBMDx study v1.0 FANCA Gene migrated from ENSG00000187741 to ENSG00000187741 (gene set migration)
IBMDx study v1.0 ETV6 Gene migrated from ENSG00000139083 to ENSG00000139083 (gene set migration)
IBMDx study v1.0 ERCC4 Gene migrated from ENSG00000175595 to ENSG00000175595 (gene set migration)
IBMDx study v1.0 EFL1 Gene migrated from ENSG00000140598 to ENSG00000140598 (gene set migration)
IBMDx study v1.0 DNAJC21 Gene migrated from ENSG00000168724 to ENSG00000168724 (gene set migration)
IBMDx study v1.0 DKC1 Gene migrated from ENSG00000130826 to ENSG00000130826 (gene set migration)
IBMDx study v1.0 CYCS Gene migrated from ENSG00000172115 to ENSG00000172115 (gene set migration)
IBMDx study v1.0 CTC1 Gene migrated from ENSG00000178971 to ENSG00000178971 (gene set migration)
IBMDx study v1.0 CDC42 Gene migrated from ENSG00000070831 to ENSG00000070831 (gene set migration)
IBMDx study v1.0 ERCC6L2 Gene migrated from ENSG00000182150 to ENSG00000182150 (gene set migration)
IBMDx study v1.0 CDAN1 Gene migrated from ENSG00000140326 to ENSG00000140326 (gene set migration)
IBMDx study v1.0 CDIN1 Gene symbol changed from C15orf41 to CDIN1 during gene set migration (ENSG00000186073 -> ENSG00000186073)
IBMDx study v1.0 ANKRD26 Gene migrated from ENSG00000107890 to ENSG00000107890 (gene set migration)
IBMDx study v1.0 ALAS2 Gene migrated from ENSG00000158578 to ENSG00000158578 (gene set migration)
IBMDx study v1.0 AK2 Gene migrated from ENSG00000004455 to ENSG00000004455 (gene set migration)
IBMDx study v1.0 ADH5 Gene migrated from ENSG00000197894 to ENSG00000197894 (gene set migration)
IBMDx study v1.0 GP1BB Gene migrated from ENSG00000203618 to ENSG00000203618 (gene set migration)
IBMDx study v1.0 Panel migrated to gene set Ensemblv115. Source version: v0.42
IBMDx study v0.42 DDX41 Zornitza Stark Marked gene: DDX41 as ready
IBMDx study v0.42 DDX41 Zornitza Stark Gene: ddx41 has been classified as Green List (High Evidence).
IBMDx study v0.42 DDX41 Zornitza Stark Mode of inheritance for gene: DDX41 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
IBMDx study v0.41 GP1BB Zornitza Stark Marked gene: GP1BB as ready
IBMDx study v0.41 GP1BB Zornitza Stark Gene: gp1bb has been classified as Green List (High Evidence).
IBMDx study v0.41 GP1BB Zornitza Stark Phenotypes for gene: GP1BB were changed from Bernard-Soulier syndrome (BSS) to ulier syndrome, type B, MIM# 231200; Macrothrombocytopaenia
IBMDx study v0.40 GP1BB Zornitza Stark Publications for gene: GP1BB were set to
IBMDx study v0.39 GP1BB Zornitza Stark Mode of inheritance for gene: GP1BB was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
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 v0.37 ADA2 Zornitza Stark Marked gene: ADA2 as ready
IBMDx study v0.37 ADA2 Zornitza Stark Gene: ada2 has been classified as Green List (High Evidence).
IBMDx study v0.37 ADA2 Zornitza Stark Publications for gene: ADA2 were set to
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 v0.35 TERC Zornitza Stark Marked gene: TERC as ready
IBMDx study v0.35 TERC Zornitza Stark Gene: terc has been classified as Green List (High Evidence).
IBMDx study v0.35 TERC Zornitza Stark Phenotypes for gene: TERC were changed from Dyskeratosis congenita, autosomal dominant 1, MIM# 127550 to Dyskeratosis congenita, autosomal dominant 1, MIM# 127550; Pulmonary fibrosis and/or bone marrow failure syndrome, telomere-related, 2, MIM# 614743
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 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