| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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| Bone Marrow Failure v1.93 | ERG | Zornitza Stark Classified gene: ERG as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Bone Marrow Failure v1.93 | ERG | Zornitza Stark Gene: erg has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Bone Marrow Failure v1.92 | ERG | Hamish Scott reviewed gene: ERG: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: cytopenia, Thrombocytopenia, MDS, Lymphedema; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Bone Marrow Failure v1.84 | ERG | Zornitza Stark Phenotypes for gene: ERG were changed from https://ash.confex.com/ash/2023/webprogram/Paper191986.html to Myelodysplasia syndrome, MONDO:0018881, ERG-related | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Bone Marrow Failure v1.83 | ERG | Zornitza Stark Publications for gene: ERG were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Bone Marrow Failure v1.82 | ERG | Zornitza Stark edited their review of gene: ERG: Changed phenotypes: Myelodysplasia syndrome, MONDO:0018881, ERG-related | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Bone Marrow Failure v1.82 | ERG | Zornitza Stark edited their review of gene: ERG: Changed publications: https://ash.confex.com/ash/2023/webprogram/Paper191986.html | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Bone Marrow Failure v1.82 | ERG |
Zornitza Stark changed review comment from: Conference abstract: 15 heterozygous variants in the ERG gene, 13 of which are missense and 2 truncating variants, in 17 individuals with cytopenia and/or HM (mainly myeloid) or lympheedema. Onset of hematological symptoms ranged from birth to 38 years for truncating and constrained ETS domain variants. Sources: Literature; to: Conference abstract: 15 heterozygous variants in the ERG gene, 13 of which are missense and 2 truncating variants, in 17 individuals with cytopenia and/or HM (mainly myeloid) or lymphoedema. Onset of hematological symptoms ranged from birth to 38 years for truncating and constrained ETS domain variants. Sources: Literature |
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| Bone Marrow Failure v1.82 | ERG | Zornitza Stark Marked gene: ERG as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Bone Marrow Failure v1.82 | ERG | Zornitza Stark Gene: erg has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Bone Marrow Failure v1.82 | ERG | Zornitza Stark Classified gene: ERG as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Bone Marrow Failure v1.82 | ERG | Zornitza Stark Gene: erg has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Bone Marrow Failure v1.81 | ERG |
Zornitza Stark gene: ERG was added gene: ERG was added to Bone Marrow Failure. Sources: Literature Mode of inheritance for gene: ERG was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: ERG were set to https://ash.confex.com/ash/2023/webprogram/Paper191986.html Review for gene: ERG was set to AMBER Added comment: Conference abstract: 15 heterozygous variants in the ERG gene, 13 of which are missense and 2 truncating variants, in 17 individuals with cytopenia and/or HM (mainly myeloid) or lympheedema. Onset of hematological symptoms ranged from birth to 38 years for truncating and constrained ETS domain variants. Sources: Literature |
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| Bone Marrow Failure v0.268 | GATA2 | Zornitza Stark Phenotypes for gene: GATA2 were changed from to Immunodeficiency 21, MIM# 614172; GATA2 deficiency with susceptibility to MDS/AML MONDO:0042982; Emberger syndrome, MIM# 614038; Deafness-lymphoedema-leukaemia syndrome MONDO:0013540 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Bone Marrow Failure v0.265 | GATA2 | Zornitza Stark edited their review of gene: GATA2: Changed phenotypes: Immunodeficiency 21, MIM# 614172, MONDO:0042982, Emberger syndrome, MIM# 614038, MONDO:0013540 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Bone Marrow Failure v0.265 | GATA2 |
Zornitza Stark changed review comment from: This primary immunodeficiency, designated IMD21, DCML, or MONOMAC, is characterized by profoundly decreased or absent monocytes, B lymphocytes, natural killer (NK) lymphocytes, and circulating and tissue dendritic cells (DCs), with little or no effect on T-cell numbers. Clinical features of IMD21 are variable and include susceptibility to disseminated nontuberculous mycobacterial infections, papillomavirus infections, opportunistic fungal infections, and pulmonary alveolar proteinosis. Bone marrow hypocellularity and dysplasia of myeloid, erythroid, and megakaryocytic lineages are present in most individuals, as are karyotypic abnormalities, including monosomy 7 and trisomy 8. In the absence of cytogenetic abnormalities or overt dysplasia, hypoplastic bone marrow may initially be diagnosed as aplastic anaemia. Less common manifestations of GATA2 deficiency include lymphedema and sensorineural hearing loss, a phenotype usually termed 'Emberger syndrome'. Over 20 unrelated individuals reported.; to: This primary immunodeficiency, designated IMD21, DCML, or MONOMAC, is characterized by profoundly decreased or absent monocytes, B lymphocytes, natural killer (NK) lymphocytes, and circulating and tissue dendritic cells (DCs), with little or no effect on T-cell numbers. Clinical features of IMD21 are variable and include susceptibility to disseminated nontuberculous mycobacterial infections, papillomavirus infections, opportunistic fungal infections, and pulmonary alveolar proteinosis. Bone marrow hypocellularity and dysplasia of myeloid, erythroid, and megakaryocytic lineages are present in most individuals, as are karyotypic abnormalities, including monosomy 7 and trisomy 8. In the absence of cytogenetic abnormalities or overt dysplasia, hypoplastic bone marrow may initially be diagnosed as aplastic anaemia. Less common manifestations of GATA2 deficiency include lymphoedema and sensorineural hearing loss, a phenotype usually termed 'Emberger syndrome'. Over 20 unrelated individuals reported. |
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