| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Bone Marrow Failure v1.27 | MBD4 | Zornitza Stark Marked gene: MBD4 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Bone Marrow Failure v1.27 | MBD4 | Zornitza Stark Gene: mbd4 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Bone Marrow Failure v1.27 | MBD4 | Zornitza Stark Classified gene: MBD4 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Bone Marrow Failure v1.27 | MBD4 | Zornitza Stark Gene: mbd4 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Bone Marrow Failure v1.26 | MBD4 |
Krithika Murali changed review comment from: Associated with AML, myelodysplastic syndrome, pancytopenia, polyposis. D/W Meg Wall - suitable for bone marrow failure gene list as Green gene. PMID: 30049810 - 34 yo F initially presented with pancytopenia, subsequent diagnosis of AML with myelodysplasia-related changes was made on bone marrow examination PMID:35381620 (reviewed by Dr Chern Lim): A 37-year-old man presented with symptomatic anaemia and pancytopenia, a diagnosis of myelodysplastic syndrome with ring sideroblasts and multilineage dysplasia (MDS-RS-MLD) was made on bone marrow biopsy, patient has a homozygous missense variant in the germline. PMID:35460607: Biallelic loss-of-function germline variants in four families with five individuals with adenomatous colorectal polyposis, acute myeloid leukemia, and uveal melanoma. Presentation also included myelodysplastic syndrome in an individual which is associated with low blood counts. Sources: Literature, Expert Review; to: Associated with AML, myelodysplastic syndrome, pancytopenia, polyposis. D/W Meg Wall - suitable for bone marrow failure gene list as Green gene. PMID: 30049810 - 34 yo F initially presented with pancytopenia, subsequent diagnosis of AML with myelodysplasia-related changes was made on bone marrow examination PMID:35381620 (reviewed by Dr Chern Lim): A 37-year-old man presented with symptomatic anaemia and pancytopenia, a diagnosis of myelodysplastic syndrome with ring sideroblasts and multilineage dysplasia (MDS-RS-MLD) was made on bone marrow biopsy, patient has a homozygous missense variant in the germline. PMID:35460607: Biallelic loss-of-function germline variants in four families with five individuals with adenomatous colorectal polyposis, acute myeloid leukemia, and uveal melanoma. Presentation also included myelodysplastic syndrome in an individual. Sources: Literature, Expert Review |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Bone Marrow Failure v1.26 | MBD4 |
Krithika Murali changed review comment from: Associated with AML, myelodysplastic syndrome, pancytopenia, polyposis. D/W Meg Wall - suitable for bone marrow failure gene list as Green gene. PMID: 30049810 - 34 yo F initially presented with pancytopenia, subsequent diagnosis of AML with myelodysplasia-related changes was made on bone marrow examination PMID:35381620 (reviewed by Dr Chern Lim): A 37-year-old man presented with symptomatic anaemia and pancytopenia, a diagnosis of myelodysplastic syndrome with ring sideroblasts and multilineage dysplasia (MDS-RS-MLD) was made on bone marrow biopsy, patient has a homozygous missense variant in the germline. PMID:35460607: Biallelic loss-of-function germline variants in four families with five individuals with adenomatous colorectal polyposis, acute myeloid leukemia, and uveal melanoma. Presentation also included myelodysplastic syndrome in an individual which is associated with low blood counts. Sources: Literature, Expert Review; to: Associated with AML, myelodysplastic syndrome, pancytopenia, polyposis. D/W Meg Wall - suitable for bone marrow failure gene list as Green gene. PMID: 30049810 - 34 yo F initially presented with pancytopenia, subsequent diagnosis of AML with myelodysplasia-related changes was made on bone marrow examination PMID:35381620 (reviewed by Dr Chern Lim): A 37-year-old man presented with symptomatic anaemia and pancytopenia, a diagnosis of myelodysplastic syndrome with ring sideroblasts and multilineage dysplasia (MDS-RS-MLD) was made on bone marrow biopsy, patient has a homozygous missense variant in the germline. PMID:35460607: Biallelic loss-of-function germline variants in four families with five individuals with adenomatous colorectal polyposis, acute myeloid leukemia, and uveal melanoma. Presentation also included myelodysplastic syndrome in an individual which is associated with low blood counts. Sources: Literature, Expert Review |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Bone Marrow Failure v1.26 | MBD4 |
Krithika Murali gene: MBD4 was added gene: MBD4 was added to Bone Marrow Failure. Sources: Literature,Expert Review Mode of inheritance for gene: MBD4 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: MBD4 were set to PMID: 30049810; PMID:35460607; PMID:35381620 Phenotypes for gene: MBD4 were set to Tumor predisposition syndrome 2 - MIM#619975; Adenomatous colorectal polyposis, myelodysplastic syndrome, acute myeloid leukemia, and uveal melanoma Review for gene: MBD4 was set to GREEN Added comment: Associated with AML, myelodysplastic syndrome, pancytopenia, polyposis. D/W Meg Wall - suitable for bone marrow failure gene list as Green gene. PMID: 30049810 - 34 yo F initially presented with pancytopenia, subsequent diagnosis of AML with myelodysplasia-related changes was made on bone marrow examination PMID:35381620 (reviewed by Dr Chern Lim): A 37-year-old man presented with symptomatic anaemia and pancytopenia, a diagnosis of myelodysplastic syndrome with ring sideroblasts and multilineage dysplasia (MDS-RS-MLD) was made on bone marrow biopsy, patient has a homozygous missense variant in the germline. PMID:35460607: Biallelic loss-of-function germline variants in four families with five individuals with adenomatous colorectal polyposis, acute myeloid leukemia, and uveal melanoma. Presentation also included myelodysplastic syndrome in an individual which is associated with low blood counts. Sources: Literature, Expert Review |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||