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| Inherited predisposition to acute myeloid leukaemia (AML) v3.1 | Catherine Snow Panel version 3.0 has been signed off on 2023-03-22 | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Inherited predisposition to acute myeloid leukaemia (AML) v3.0 | Catherine Snow promoted panel to version 3.0 | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Inherited predisposition to acute myeloid leukaemia (AML) v2.3 | MBD4 |
Achchuthan Shanmugasundram changed review comment from: The rating of this gene has been updated to Green and the mode of inheritance set to 'BIALLELIC, autosomal or pseudoautosomal' following NHS Genomic Medicine Service approval.; to: The rating of this gene has been updated to Green and the mode of inheritance set to 'BIALLELIC, autosomal or pseudoautosomal' following NHS Genomic Medicine Service approval. Notes from GMS reviewers: MBD4 is associated with a rare cancer predisposition syndrome with high penetrance for AML. Loss of function of the gene results in defective base excision repair and a mutator phenotype. It is appropriate to include this gene in the panel. Agree with the evidence cited, would seek consensus approval with CGG. As the reports for variants in this gene are limited, it may be prundent to restrict analysis to clearly LOF truncating variants in the first instance. Reagents would require redesign for this gene to be included. |
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| Inherited predisposition to acute myeloid leukaemia (AML) v2.3 | MBD4 |
Achchuthan Shanmugasundram Tag Q3_22_rating was removed from gene: MBD4. Tag Q3_22_NHS_review was removed from gene: MBD4. Tag Q3_22_expert_review was removed from gene: MBD4. |
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| Inherited predisposition to acute myeloid leukaemia (AML) v2.3 | MBD4 | Achchuthan Shanmugasundram reviewed gene: MBD4: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Inherited predisposition to acute myeloid leukaemia (AML) v2.2 | MBD4 |
Achchuthan Shanmugasundram Source Expert Review Green was added to MBD4. Source NHS GMS was added to MBD4. Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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| Inherited predisposition to acute myeloid leukaemia (AML) v2.1 | Eleanor Williams Panel version 2.0 has been signed off on 2022-11-30 | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Inherited predisposition to acute myeloid leukaemia (AML) v2.0 | Eleanor Williams promoted panel to version 2.0 | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Inherited predisposition to acute myeloid leukaemia (AML) v1.25 | TERT | Arina Puzriakova Phenotypes for gene: TERT were changed from {Leukemia, acute myeloid}, OMIM:601626; Dyskeratosis congenita, autosomal dominant 2, OMIM:613989; Dyskeratosis congenita, autosomal recessive 4, OMIM:613989 to {Leukemia, acute myeloid}, OMIM:601626; Dyskeratosis congenita, autosomal dominant 2, OMIM:613989; Dyskeratosis congenita, autosomal recessive 4, OMIM:613989; Pulmonary fibrosis and/or bone marrow failure, telomere-related, 1, OMIM:614742 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Inherited predisposition to acute myeloid leukaemia (AML) v1.24 | MBD4 |
Arina Puzriakova changed review comment from: Comment on list classification: This gene will be flagged for GMS expert review to determine the suitability of MBD4 for malignancy predisposition testing. MBD4 was first added by an external reviewer to the 'Haematological malignancies cancer susceptibility' panel (https://panelapp.genomicsengland.co.uk/panels/59/gene/MBD4/), however after GMS consideration it was decided that it should remain amber (v2.23). Loss of MBD4 leads to an accumulation of somatic CpG>TpG transitions, consistent with MBD4 function which involves repair of G:T mismatches resulting from deamination of 5'-methylcytosine. Germline MBD4 inactivation can therefore lead to somatic variation (i.e. CpG>TpG) in well-down cancer driver genes, in turn conferring cancer susceptibility. Although MBD4 itself does not directly drive oncogenesis, evidence suggests it may modify disease risk as shown by multiple cases reported in literature with this distinctive mutational signature. Given that there are now two separate Green clinical reviews suggesting this gene, it will again be flagged for further GMS review.; to: Comment on list classification: This gene will be flagged for GMS expert review to determine the suitability of MBD4 for malignancy predisposition testing. MBD4 was first added by an external reviewer to the 'Haematological malignancies cancer susceptibility' panel (https://panelapp.genomicsengland.co.uk/panels/59/gene/MBD4/), however after GMS consideration it was decided that it should remain amber (v2.23). Loss of MBD4 leads to an accumulation of somatic CpG>TpG transitions, consistent with MBD4 function which involves repair of G:T mismatches resulting from deamination of 5'-methylcytosine. Germline MBD4 inactivation can therefore lead to somatic variation (i.e. CpG>TpG) in well-known cancer driver genes, in turn conferring cancer susceptibility. Although MBD4 itself does not directly drive oncogenesis, evidence suggests it may modify disease risk as shown by multiple cases reported in literature with this distinctive mutational signature. Given that there are now two separate Green clinical reviews suggesting this gene, it will again be flagged for further GMS review. |
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| Inherited predisposition to acute myeloid leukaemia (AML) v1.24 | MBD4 | Arina Puzriakova Classified gene: MBD4 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Inherited predisposition to acute myeloid leukaemia (AML) v1.24 | MBD4 |
Arina Puzriakova Added comment: Comment on list classification: This gene will be flagged for GMS expert review to determine the suitability of MBD4 for malignancy predisposition testing. MBD4 was first added by an external reviewer to the 'Haematological malignancies cancer susceptibility' panel (https://panelapp.genomicsengland.co.uk/panels/59/gene/MBD4/), however after GMS consideration it was decided that it should remain amber (v2.23). Loss of MBD4 leads to an accumulation of somatic CpG>TpG transitions, consistent with MBD4 function which involves repair of G:T mismatches resulting from deamination of 5'-methylcytosine. Germline MBD4 inactivation can therefore lead to somatic variation (i.e. CpG>TpG) in well-down cancer driver genes, in turn conferring cancer susceptibility. Although MBD4 itself does not directly drive oncogenesis, evidence suggests it may modify disease risk as shown by multiple cases reported in literature with this distinctive mutational signature. Given that there are now two separate Green clinical reviews suggesting this gene, it will again be flagged for further GMS review. |
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| Inherited predisposition to acute myeloid leukaemia (AML) v1.24 | MBD4 | Arina Puzriakova Gene: mbd4 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Inherited predisposition to acute myeloid leukaemia (AML) v1.23 | MBD4 |
Arina Puzriakova Tag Q3_22_rating tag was added to gene: MBD4. Tag Q3_22_NHS_review tag was added to gene: MBD4. Tag Q3_22_expert_review tag was added to gene: MBD4. |
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| Inherited predisposition to acute myeloid leukaemia (AML) v1.23 | MBD4 | Arina Puzriakova Phenotypes for gene: MBD4 were changed from polyposis; CRC; AML; MDS; UVM to Multi-organ tumour predisposition syndrome; Adenomatous colorectal polyposis; Colorectal cancer; Acute myeloid leukemia; Uveal melanoma | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Inherited predisposition to acute myeloid leukaemia (AML) v1.22 | MBD4 | Arina Puzriakova Publications for gene: MBD4 were set to 35460607 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Inherited predisposition to acute myeloid leukaemia (AML) v1.21 | MBD4 | Arina Puzriakova reviewed gene: MBD4: Rating: ; Mode of pathogenicity: None; Publications: 12417741, 30049810, 32239153, 35460607; Phenotypes: Multi-organ tumour predisposition syndrome, Adenomatous colorectal polyposis, Colorectal cancer, Acute myeloid leukemia, Uveal melanoma; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Inherited predisposition to acute myeloid leukaemia (AML) v1.21 | MBD4 |
Claire Palles gene: MBD4 was added gene: MBD4 was added to Inherited predisposition to acute myeloid leukaemia (AML). Sources: Literature Mode of inheritance for gene: MBD4 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: MBD4 were set to 35460607 Phenotypes for gene: MBD4 were set to polyposis; CRC; AML; MDS; UVM Penetrance for gene: MBD4 were set to Complete Review for gene: MBD4 was set to GREEN Added comment: Bi-allelic carriers are at a high increased risk of colorectal polyposis, MDS/AML and uveal melanoma. Mono-allelic carriers are not at an increased risk of AML or polyposis in the data we have so far. Sources: Literature |
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| Inherited predisposition to acute myeloid leukaemia (AML) v1.21 | SAMD9L | Arina Puzriakova reviewed gene: SAMD9L: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Inherited predisposition to acute myeloid leukaemia (AML) v1.20 | SAMD9L |
Arina Puzriakova gene: SAMD9L was added gene: SAMD9L was added to Inherited predisposition to acute myeloid leukaemia (AML). Sources: Expert Review Green Mode of inheritance for gene: SAMD9L was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: SAMD9L were set to 11172908; 10640152 Phenotypes for gene: SAMD9L were set to Monosomy 7 myelodysplasia and leukemia syndrome 1, OMIM:252270 |
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| Inherited predisposition to acute myeloid leukaemia (AML) v1.19 | SRP72 | Arina Puzriakova Publications for gene: SRP72 were set to 23926458; 28600339 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Inherited predisposition to acute myeloid leukaemia (AML) v1.18 | SAMD9 | Arina Puzriakova Added comment: Comment on phenotypes: This gene is also associated with MIRAGE syndrome (MIM# 617053) and Tumoral calcinosis, familial, normophosphatemic (MIM# 610455) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Inherited predisposition to acute myeloid leukaemia (AML) v1.18 | SAMD9 | Arina Puzriakova Phenotypes for gene: SAMD9 were changed from MIRAGE syndrome 617053 to Monosomy 7 myelodysplasia and leukemia syndrome 2, OMIM:619041 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Inherited predisposition to acute myeloid leukaemia (AML) v1.17 | SAMD9 | Arina Puzriakova Publications for gene: SAMD9 were set to PMID: 30466750; PMID: 29146883 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Inherited predisposition to acute myeloid leukaemia (AML) v1.16 | RTEL1 | Arina Puzriakova Added comment: Comment on phenotypes: This gene is also associated with Pulmonary fibrosis and/or bone marrow failure, telomere-related, 3 (MIM# 616373) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Inherited predisposition to acute myeloid leukaemia (AML) v1.16 | RTEL1 | Arina Puzriakova Phenotypes for gene: RTEL1 were changed from Dyskeratosis congenita, autosomal dominant 4 615190; Dyskeratosis congenita, autosomal recessive 5 615190; Pulmonary fibrosis and/or bone marrow failure, telomere-related, 3 616373 to Dyskeratosis congenita, autosomal dominant 4, OMIM:615190; Dyskeratosis congenita, autosomal recessive 5, OMIM:615190 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Inherited predisposition to acute myeloid leukaemia (AML) v1.15 | ACD | Arina Puzriakova Phenotypes for gene: ACD were changed from 616553 ?Dyskeratosis congenita, autosomal dominant 6; ?Dyskeratosis congenita, autosomal recessive 7 to ?Dyskeratosis congenita, autosomal dominant 6, OMIM:616553; ?Dyskeratosis congenita, autosomal recessive 7, OMIM:616553 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Inherited predisposition to acute myeloid leukaemia (AML) v1.14 | TP53 | Arina Puzriakova Added comment: Comment on phenotypes: This gene is also associated with {Adrenocortical carcinoma, pediatric} (MIM#202300); {Basal cell carcinoma 7} (MIM# 614740), {Choroid plexus papilloma} (MIM# 260500); {Colorectal cancer}, (MIM# 114500); {Glioma susceptibility 1} (MIM# 137800); {Osteosarcoma} (MIM# 259500); Bone marrow failure syndrome 5 (MIM# 618165); Breast cancer, somatic (MIM# 114480); Hepatocellular carcinoma, somatic (MIM# 114550); Nasopharyngeal carcinoma, somatic (MIM# 607107); Pancreatic cancer, somatic (MIM# 260350) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Inherited predisposition to acute myeloid leukaemia (AML) v1.14 | TP53 | Arina Puzriakova Phenotypes for gene: TP53 were changed from 151623 (OMIM phenotype description ID); 151623 Li-Fraumeni syndrome to Li-Fraumeni syndrome, OMIM:151623; Li-Fraumeni syndrome 1, MONDO:0007903 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Inherited predisposition to acute myeloid leukaemia (AML) v1.13 | TERT | Arina Puzriakova Added comment: Comment on phenotypes: This gene is also associated with Pulmonary fibrosis and/or bone marrow failure, telomere-related, 1 (MIM# 614742) and Melanoma, cutaneous malignant, 9 (MIM# 615134) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Inherited predisposition to acute myeloid leukaemia (AML) v1.13 | TERT | Arina Puzriakova Phenotypes for gene: TERT were changed from 601626 {Leukemia, acute myeloid}; 187270 (OMIN gene description ID); 187270 / 601626 {Leukemia, acute myeloid}; Dyskeratosis congenita, autosomal dominant 2, 613989; Dyskeratosis congenita, autosomal recessive 4, 613989; Leukemia, acute myeloid} 601626; Pulmonary fibrosis and/or bone marrow failure, telomere-related, 1, 614742 to {Leukemia, acute myeloid}, OMIM:601626; Dyskeratosis congenita, autosomal dominant 2, OMIM:613989; Dyskeratosis congenita, autosomal recessive 4, OMIM:613989 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Inherited predisposition to acute myeloid leukaemia (AML) v1.12 | TERC | Arina Puzriakova Added comment: Comment on phenotypes: This gene is also associated with Pulmonary fibrosis, idiopathic, susceptibility to (MIM#614743) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Inherited predisposition to acute myeloid leukaemia (AML) v1.12 | TERC | Arina Puzriakova Phenotypes for gene: TERC were changed from Dyskeratosis congenita, autosomal dominant 1, 27550; Aplastic anemia, 614743; Pulmonary fibrosis, idiopathic, susceptibility to, 614743 to Dyskeratosis congenita, autosomal dominant 1, OMIM:127550; {Aplastic anemia}, OMIM:614743 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Inherited predisposition to acute myeloid leukaemia (AML) v1.11 | RUNX1 | Arina Puzriakova Phenotypes for gene: RUNX1 were changed from 601399 (OMIM phenotype description ID); 601626 Leukemia, acute myeloid; 601399 Platelet disorder, familial, with associated myeloid malignancy to Leukemia, acute myeloid, OMIM:601626; Platelet disorder, familial, with associated myeloid malignancy, OMIM:601399 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Inherited predisposition to acute myeloid leukaemia (AML) v1.10 | GATA2 | Arina Puzriakova Added comment: Comment on phenotypes: This gene is also associated with Immunodeficiency 21 (MIM# 614172) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Inherited predisposition to acute myeloid leukaemia (AML) v1.10 | GATA2 | Arina Puzriakova Phenotypes for gene: GATA2 were changed from 601626 {Leukemia, acute myeloid, susceptibility to}; 137295 (OMIN gene description ID); 614286 {Myelodysplastic syndrome, susceptibility to}; 601626 {Leukemia, acute myeloid, susceptibility to} to {Leukemia, acute myeloid, susceptibility to}, OMIM:601626; {Myelodysplastic syndrome, susceptibility to}, OMIM:614286; Emberger syndrome, OMIM:614038 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Inherited predisposition to acute myeloid leukaemia (AML) v1.9 | ETV6 | Arina Puzriakova Phenotypes for gene: ETV6 were changed from 600618 Thrombocytopenia 5; 601626 Leukemia, acute myeloid, somatic; 601626 Leukemia, acute myeloid, somatic to Leukemia, acute myeloid, somatic, OMIM:601626; Thrombocytopenia 5, OMIM:616216; Acute myeloid leukemia, MONDO:0018874 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Inherited predisposition to acute myeloid leukaemia (AML) v1.8 | ETV6 | Arina Puzriakova Publications for gene: ETV6 were set to 28600339 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Inherited predisposition to acute myeloid leukaemia (AML) v1.7 | DDX41 | Arina Puzriakova Phenotypes for gene: DDX41 were changed from 616871 {Myeloproliferative/lymphoproliferative neoplasms, familial (multiple types), susceptibility to}; 616871 (OMIM phenotype description ID) to {Myeloproliferative/lymphoproliferative neoplasms, familial (multiple types), susceptibility to}, OMIM:616871; DDX41-related hematologic malignancy predisposition syndrome, MONDO:0014809 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Inherited predisposition to acute myeloid leukaemia (AML) v1.6 | CEBPA | Arina Puzriakova Phenotypes for gene: CEBPA were changed from 601626 (OMIM phenotype description ID); 116897 (OMIN gene description ID); 116897 / 601626 Leukemia, acute myeloid, somatic; 601626 Leukemia, acute myeloid, somatic to ?Leukemia, acute myeloid, OMIM:601626; Leukemia, acute myeloid, somatic, OMIM:601626; Acute myeloid leukemia, MONDO:0018874 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Inherited predisposition to acute myeloid leukaemia (AML) v1.5 | ANKRD26 | Arina Puzriakova Phenotypes for gene: ANKRD26 were changed from 610855; 610855 (OMIN gene description ID); not submitted (OMIM phenotype description ID) to Thrombocytopenia 2, OMIM:188000; Acute myeloid leukemia, MONDO:0018874 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Inherited predisposition to acute myeloid leukaemia (AML) v1.3 | Catherine Snow Panel version has been signed off | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Inherited predisposition to acute myeloid leukaemia (AML) v1.0 | Louise Daugherty promoted panel to version 1.0 | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Inherited predisposition to acute myeloid leukaemia (AML) v0.48 | Louise Daugherty Panel types changed to GMS Rare Disease; GMS signed-off | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Inherited predisposition to acute myeloid leukaemia (AML) v0.47 | Louise Daugherty List of related panels changed from to R347 | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Inherited predisposition to acute myeloid leukaemia (AML) v0.45 | TP53 | Louise Daugherty Deleted their comment | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Inherited predisposition to acute myeloid leukaemia (AML) v0.45 | TP53 | Louise Daugherty Classified gene: TP53 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Inherited predisposition to acute myeloid leukaemia (AML) v0.45 | TP53 | Louise Daugherty Added comment: Comment on list classification: As discussed in the GMS Haematology Specialist Test Group webex call 8th March 2019: The Specialist Test Group agreed that there is enough evidence to rate this gene Green. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Inherited predisposition to acute myeloid leukaemia (AML) v0.45 | TP53 | Louise Daugherty Gene: tp53 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Inherited predisposition to acute myeloid leukaemia (AML) v0.44 | TP53 | Louise Daugherty Classified gene: TP53 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Inherited predisposition to acute myeloid leukaemia (AML) v0.44 | TP53 | Louise Daugherty Added comment: Comment on list classification: As discussed in the GMS Haematology Specialist Test Group webex call 8th March 2019: The Specialist Test Group agreed that there is enough evidence to rate this gene Green | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Inherited predisposition to acute myeloid leukaemia (AML) v0.44 | TP53 | Louise Daugherty Gene: tp53 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Inherited predisposition to acute myeloid leukaemia (AML) v0.43 | TERT | Louise Daugherty Publications for gene: TERT were set to 23926458; 28600339 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Inherited predisposition to acute myeloid leukaemia (AML) v0.42 | TERT | Louise Daugherty Phenotypes for gene: TERT were changed from 601626 {Leukemia, acute myeloid}; 187270 (OMIN gene description ID); 187270 / 601626 {Leukemia, acute myeloid} to 601626 {Leukemia, acute myeloid}; 187270 (OMIN gene description ID); 187270 / 601626 {Leukemia, acute myeloid}; Dyskeratosis congenita, autosomal dominant 2, 613989; Dyskeratosis congenita, autosomal recessive 4, 613989; Leukemia, acute myeloid} 601626; Pulmonary fibrosis and/or bone marrow failure, telomere-related, 1, 614742 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Inherited predisposition to acute myeloid leukaemia (AML) v0.41 | TERT | Louise Daugherty Classified gene: TERT as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Inherited predisposition to acute myeloid leukaemia (AML) v0.41 | TERT | Louise Daugherty Added comment: Comment on list classification: As discussed in the GMS Haematology Specialist Test Group webex call 8th March 2019: The Specialist Test Group agreed that there is enough evidence to rate this gene Green. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Inherited predisposition to acute myeloid leukaemia (AML) v0.41 | TERT | Louise Daugherty Gene: tert has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Inherited predisposition to acute myeloid leukaemia (AML) v0.40 | RUNX1 | Louise Daugherty Classified gene: RUNX1 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Inherited predisposition to acute myeloid leukaemia (AML) v0.40 | RUNX1 | Louise Daugherty Added comment: Comment on list classification: As discussed in the GMS Haematology Specialist Test Group webex call 8th March 2019: The Specialist Test Group agreed that there is enough evidence to rate this gene Green. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Inherited predisposition to acute myeloid leukaemia (AML) v0.40 | RUNX1 | Louise Daugherty Gene: runx1 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Inherited predisposition to acute myeloid leukaemia (AML) v0.39 | RUNX1 | Louise Daugherty Publications for gene: RUNX1 were set to 19357396; 23926458; 11830488 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Inherited predisposition to acute myeloid leukaemia (AML) v0.38 | GATA2 | Louise Daugherty Phenotypes for gene: GATA2 were changed from 601626 {Leukemia, acute myeloid, susceptibility to}; 137295 (OMIN gene description ID) to 601626 {Leukemia, acute myeloid, susceptibility to}; 137295 (OMIN gene description ID); 614286 {Myelodysplastic syndrome, susceptibility to}; 601626 {Leukemia, acute myeloid, susceptibility to} | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Inherited predisposition to acute myeloid leukaemia (AML) v0.37 | GATA2 | Louise Daugherty Publications for gene: GATA2 were set to 23926458; 28600339 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Inherited predisposition to acute myeloid leukaemia (AML) v0.36 | GATA2 | Louise Daugherty Classified gene: GATA2 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Inherited predisposition to acute myeloid leukaemia (AML) v0.36 | GATA2 | Louise Daugherty Added comment: Comment on list classification: As discussed in the GMS Haematology Specialist Test Group webex call 8th March 2019: The Specialist Test Group agreed that there is enough evidence to rate this gene Green. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Inherited predisposition to acute myeloid leukaemia (AML) v0.36 | GATA2 | Louise Daugherty Gene: gata2 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Inherited predisposition to acute myeloid leukaemia (AML) v0.35 | ANKRD26 | Louise Daugherty Publications for gene: ANKRD26 were set to 23926458 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Inherited predisposition to acute myeloid leukaemia (AML) v0.34 | CEBPA | Louise Daugherty Publications for gene: CEBPA were set to 15575056; 23926458 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Inherited predisposition to acute myeloid leukaemia (AML) v0.33 | DDX41 | Louise Daugherty Publications for gene: DDX41 were set to 25920683; 2671290930466750; 27895058; 27069254 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Inherited predisposition to acute myeloid leukaemia (AML) v0.32 | DDX41 | Louise Daugherty Publications for gene: DDX41 were set to 25920683; 26712909 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Inherited predisposition to acute myeloid leukaemia (AML) v0.31 | ETV6 | Louise Daugherty Phenotypes for gene: ETV6 were changed from 600618 Thrombocytopenia 5; 601626 Leukemia, acute myeloid, somatic; 616216 (OMIM phenotype description ID); 600618 (OMIN gene description ID); 601626 Leukemia, acute myeloid, somatic to 600618 Thrombocytopenia 5; 601626 Leukemia, acute myeloid, somatic; 601626 Leukemia, acute myeloid, somatic | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Inherited predisposition to acute myeloid leukaemia (AML) v0.30 | ETV6 | Louise Daugherty Phenotypes for gene: ETV6 were changed from 600618 / 601626 Leukemia, acute myeloid, somatic; 616216 (OMIM phenotype description ID); 600618 (OMIN gene description ID); 601626 Leukemia, acute myeloid, somatic to 600618 Thrombocytopenia 5; 601626 Leukemia, acute myeloid, somatic; 616216 (OMIM phenotype description ID); 600618 (OMIN gene description ID); 601626 Leukemia, acute myeloid, somatic | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Inherited predisposition to acute myeloid leukaemia (AML) v0.29 | TERC | Louise Daugherty Phenotypes for gene: TERC were changed from 127550 (OMIM phenotype description ID); 614743 {Aplastic anemia}; 127550 / 614743 {Aplastic anemia} to Dyskeratosis congenita, autosomal dominant 1, 27550; Aplastic anemia, 614743; Pulmonary fibrosis, idiopathic, susceptibility to, 614743 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Inherited predisposition to acute myeloid leukaemia (AML) v0.28 | TERC | Louise Daugherty Publications for gene: TERC were set to 23926458; 28600339 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Inherited predisposition to acute myeloid leukaemia (AML) v0.27 | ANKRD26 | Louise Daugherty Classified gene: ANKRD26 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Inherited predisposition to acute myeloid leukaemia (AML) v0.27 | ANKRD26 | Louise Daugherty Added comment: Comment on list classification: As discussed in the GMS Haematology Specialist Test Group webex call 8th March 2019: The Specialist Test Group agreed that there is enough evidence to rate this gene Green. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Inherited predisposition to acute myeloid leukaemia (AML) v0.27 | ANKRD26 | Louise Daugherty Gene: ankrd26 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Inherited predisposition to acute myeloid leukaemia (AML) v0.26 | SAMD9 | Louise Daugherty Classified gene: SAMD9 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Inherited predisposition to acute myeloid leukaemia (AML) v0.26 | SAMD9 | Louise Daugherty Added comment: Comment on list classification: As discussed in the GMS Haematology Specialist Test Group webex call 8th March 2019: The Specialist Test Group agreed that this gene should be rated Amber | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Inherited predisposition to acute myeloid leukaemia (AML) v0.26 | SAMD9 | Louise Daugherty Gene: samd9 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Inherited predisposition to acute myeloid leukaemia (AML) v0.25 | RTEL1 | Louise Daugherty Classified gene: RTEL1 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Inherited predisposition to acute myeloid leukaemia (AML) v0.25 | RTEL1 | Louise Daugherty Added comment: Comment on list classification: As discussed in the GMS Haematology Specialist Test Group webex call 8th March 2019: The Specialist Test Group agreed that this gene should be rated Amber | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Inherited predisposition to acute myeloid leukaemia (AML) v0.25 | RTEL1 | Louise Daugherty Gene: rtel1 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Inherited predisposition to acute myeloid leukaemia (AML) v0.24 | ACD | Louise Daugherty Classified gene: ACD as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Inherited predisposition to acute myeloid leukaemia (AML) v0.24 | ACD | Louise Daugherty Added comment: Comment on list classification: As discussed in the GMS Haematology Specialist Test Group webex call 8th March 2019: The Specialist Test Group agreed that this gene should be rated Amber | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Inherited predisposition to acute myeloid leukaemia (AML) v0.24 | ACD | Louise Daugherty Gene: acd has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Inherited predisposition to acute myeloid leukaemia (AML) v0.23 | TERC | Louise Daugherty Classified gene: TERC as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Inherited predisposition to acute myeloid leukaemia (AML) v0.23 | TERC | Louise Daugherty Added comment: Comment on list classification: As discussed in the GMS Haematology Specialist Test Group webex call 8th March 2019: The Specialist Test Group agreed that there is enough evidence to rate this gene Green. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Inherited predisposition to acute myeloid leukaemia (AML) v0.23 | TERC | Louise Daugherty Gene: terc has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Inherited predisposition to acute myeloid leukaemia (AML) v0.22 | SRP72 | Louise Daugherty Classified gene: SRP72 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Inherited predisposition to acute myeloid leukaemia (AML) v0.22 | SRP72 | Louise Daugherty Added comment: Comment on list classification: As discussed in the GMS Haematology Specialist Test Group webex call 8th March 2019: The Specialist Test Group agreed that this gene should be rated Amber | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Inherited predisposition to acute myeloid leukaemia (AML) v0.22 | SRP72 | Louise Daugherty Gene: srp72 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Inherited predisposition to acute myeloid leukaemia (AML) v0.21 | ETV6 | Louise Daugherty Classified gene: ETV6 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Inherited predisposition to acute myeloid leukaemia (AML) v0.21 | ETV6 | Louise Daugherty Added comment: Comment on list classification: As discussed in the GMS Haematology Specialist Test Group webex call 8th March 2019: The Specialist Test Group agreed that there is enough evidence to rate this gene Green. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Inherited predisposition to acute myeloid leukaemia (AML) v0.21 | ETV6 | Louise Daugherty Gene: etv6 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Inherited predisposition to acute myeloid leukaemia (AML) v0.20 | CHEK2 | Louise Daugherty Classified gene: CHEK2 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Inherited predisposition to acute myeloid leukaemia (AML) v0.20 | CHEK2 | Louise Daugherty Added comment: Comment on list classification: As discussed in the GMS Haematology Specialist Test Group webex call 8th March 2019: The Specialist Test Group agreed that this gene should be rated Amber | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Inherited predisposition to acute myeloid leukaemia (AML) v0.20 | CHEK2 | Louise Daugherty Gene: chek2 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Inherited predisposition to acute myeloid leukaemia (AML) v0.19 | CHEK2 | Louise Daugherty Deleted their comment | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Inherited predisposition to acute myeloid leukaemia (AML) v0.19 | DDX41 | Louise Daugherty Classified gene: DDX41 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Inherited predisposition to acute myeloid leukaemia (AML) v0.19 | DDX41 | Louise Daugherty Added comment: Comment on list classification: As discussed in the GMS Haematology Specialist Test Group webex call 8th March 2019: The Specialist Test Group agreed that there is enough evidence to rate this gene Green. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Inherited predisposition to acute myeloid leukaemia (AML) v0.19 | DDX41 | Louise Daugherty Gene: ddx41 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Inherited predisposition to acute myeloid leukaemia (AML) v0.18 | CHEK2 | Louise Daugherty Classified gene: CHEK2 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Inherited predisposition to acute myeloid leukaemia (AML) v0.18 | CHEK2 | Louise Daugherty Added comment: Comment on list classification: As discussed in the GMS Haematology Specialist Test Group webex call 8th March 2019: The Specialist Test Group agreed that there is enough evidence to rate this gene Green. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Inherited predisposition to acute myeloid leukaemia (AML) v0.18 | CHEK2 | Louise Daugherty Gene: chek2 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Inherited predisposition to acute myeloid leukaemia (AML) v0.17 | CEBPA | Louise Daugherty Classified gene: CEBPA as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Inherited predisposition to acute myeloid leukaemia (AML) v0.17 | CEBPA | Louise Daugherty Added comment: Comment on list classification: As discussed in the GMS Haematology Specialist Test Group webex call 8th March 2019: The Specialist Test Group agreed that there is enough evidence to rate this gene Green. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Inherited predisposition to acute myeloid leukaemia (AML) v0.17 | CEBPA | Louise Daugherty Gene: cebpa has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Inherited predisposition to acute myeloid leukaemia (AML) v0.16 | RTEL1 |
Paula Page gene: RTEL1 was added gene: RTEL1 was added to Inherited predisposition to acute myeloid leukaemia (AML). Sources: Literature,Research Mode of inheritance for gene: RTEL1 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Publications for gene: RTEL1 were set to PMID: 30466750; PMID: 29146883 Phenotypes for gene: RTEL1 were set to Dyskeratosis congenita, autosomal dominant 4 615190; Dyskeratosis congenita, autosomal recessive 5 615190; Pulmonary fibrosis and/or bone marrow failure, telomere-related, 3 616373 Penetrance for gene: RTEL1 were set to unknown Review for gene: RTEL1 was set to GREEN Added comment: Barts have requested for this gene to be included on the next version of WWMGLH familial MDS/AML panel. Telomere biology associated gene. Testing recommended in Obrochta and Godley (Best Pract Res Clin Haematol. 2018 Dec;31(4):373-378). The WHO doesn't specify which genes are associated with telomere biology disorders and it is not listed as a TBD in AML ELN Recommendations. In the Telomerase database and associated with MDS, DC and IPF. Recommend Tom Vulliamy's opinion. Sources: Literature, Research |
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| Inherited predisposition to acute myeloid leukaemia (AML) v0.16 | SAMD9 |
Paula Page gene: SAMD9 was added gene: SAMD9 was added to Inherited predisposition to acute myeloid leukaemia (AML). Sources: Literature,Research Mode of inheritance for gene: SAMD9 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: SAMD9 were set to PMID: 30466750; PMID: 29146883 Phenotypes for gene: SAMD9 were set to MIRAGE syndrome 617053 Penetrance for gene: SAMD9 were set to unknown Mode of pathogenicity for gene: SAMD9 was set to Other Review for gene: SAMD9 was set to GREEN Added comment: Barts have requested for this gene to be included on the next version of WWMGLH familial MDS/AML panel. It is associated with bone marrow failure syndromes. Testing recommended in Obrochta and Godley (Best Pract Res Clin Haematol. 2018 Dec;31(4):373-378). The WHO doesn't specify which genes are associated with BMFS. Recommend Tom Vulliamy's opinion. Sources: Literature, Research |
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| Inherited predisposition to acute myeloid leukaemia (AML) v0.16 | ACD |
Paula Page gene: ACD was added gene: ACD was added to Inherited predisposition to acute myeloid leukaemia (AML). Sources: Research Mode of inheritance for gene: ACD was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Publications for gene: ACD were set to 25233904 Phenotypes for gene: ACD were set to 616553 ?Dyskeratosis congenita, autosomal dominant 6; ?Dyskeratosis congenita, autosomal recessive 7 Penetrance for gene: ACD were set to unknown Review for gene: ACD was set to AMBER gene: ACD was marked as current diagnostic Added comment: On the current WWMGLH Familial MDS/AML panel. Associated with telomere biology disorders. In the telomerase specific database no association with AML (although aplastic anaemia is present). Not specifically in the WHO/ELN or Godley guidelines unless it is counted as a telomere biology gene. Would recommend advice from Tom Vulliamy. Sources: Research |
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| Inherited predisposition to acute myeloid leukaemia (AML) v0.16 | TERT | Paula Page reviewed gene: TERT: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 30466750, PMID: 27895058, PMID: 27069254; Phenotypes: Dyskeratosis congenita, autosomal dominant 2 613989, Dyskeratosis congenita, autosomal recessive 4 613989, Leukemia, acute myeloid} 601626, Pulmonary fibrosis and/or bone marrow failure, telomere-related, 1 614742; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal; Current diagnostic: yes | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Inherited predisposition to acute myeloid leukaemia (AML) v0.16 | TERC | Paula Page reviewed gene: TERC: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 30466750, PMID: 27895058, PMID: 27069254; Phenotypes: 127550 Dyskeratosis congenita, autosomal dominant 1, Aplastic anemia 614743, Pulmonary fibrosis, idiopathic, susceptibility to 614743; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Inherited predisposition to acute myeloid leukaemia (AML) v0.16 | SRP72 | Paula Page reviewed gene: SRP72: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 30466750, PMID: 29146883, PMID: 26917736; Phenotypes: 614675 Bone marrow failure syndrome 1; Mode of inheritance: None; Current diagnostic: yes | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Inherited predisposition to acute myeloid leukaemia (AML) v0.16 | RUNX1 | Paula Page reviewed gene: RUNX1: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 30466750, PMID: 27895058, PMID: 27069254; Phenotypes: 601399 Platelet disorder, familial, with associated myeloid malignancy, 601626 Leukemia, acute myeloid; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Inherited predisposition to acute myeloid leukaemia (AML) v0.16 | GATA2 | Paula Page reviewed gene: GATA2: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 30466750, PMID: 27895058, PMID: 27069254; Phenotypes: 614286 {Myelodysplastic syndrome, susceptibility to}, 601626 {Leukemia, acute myeloid, susceptibility to}; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Inherited predisposition to acute myeloid leukaemia (AML) v0.16 | ETV6 | Paula Page reviewed gene: ETV6: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 30466750, PMID: 27895058, PMID: 27069254; Phenotypes: 600618 Thrombocytopenia 5, 601626 Leukemia, acute myeloid, somatic; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Inherited predisposition to acute myeloid leukaemia (AML) v0.16 | DDX41 | Paula Page reviewed gene: DDX41: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 30466750, PMID: 27895058, PMID: 27069254; Phenotypes: 616871 {Myeloproliferative/lymphoproliferative neoplasms, familial (multiple types), susceptibility to}; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Inherited predisposition to acute myeloid leukaemia (AML) v0.16 | CHEK2 | Paula Page reviewed gene: CHEK2: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: 609265 Li-Fraumeni syndrome; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Inherited predisposition to acute myeloid leukaemia (AML) v0.16 | CEBPA | Paula Page reviewed gene: CEBPA: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 30466750, PMID: 27895058, PMID: 27069254; Phenotypes: 116897, 601626; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Inherited predisposition to acute myeloid leukaemia (AML) v0.16 | ANKRD26 | Paula Page reviewed gene: ANKRD26: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 30466750, PMID: 27895058, PMID: 27069254; Phenotypes: 610855; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Inherited predisposition to acute myeloid leukaemia (AML) v0.16 | TP53 | Louise Daugherty commented on gene: TP53: Initial gene list (Consensus Genes for SPEC HAEM Panels 31.01.19 North West v1 FINAL.xlsx) collated by Steve Keeney Molecular Diagnostics Centre Central Manchester NHS Foundation Trust January 2019 on behalf of North West GLH for the GMS Haematology specialist test group. Gene Symbol submitted: TP53; Suggested initial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? Yes; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Phenotypes: 151623 Li-Fraumeni syndrome; PMID(s): none submitted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Inherited predisposition to acute myeloid leukaemia (AML) v0.16 | TERT | Louise Daugherty commented on gene: TERT: Initial gene list (Consensus Genes for SPEC HAEM Panels 31.01.19 North West v1 FINAL.xlsx) collated by Steve Keeney Molecular Diagnostics Centre Central Manchester NHS Foundation Trust January 2019 on behalf of North West GLH for the GMS Haematology specialist test group. Gene Symbol submitted: TERT; Suggested initial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? Yes; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal; Phenotypes: 187270 / 601626 {Leukemia, acute myeloid}; PMID(s): none submitted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Inherited predisposition to acute myeloid leukaemia (AML) v0.16 | TERC | Louise Daugherty commented on gene: TERC: Initial gene list (Consensus Genes for SPEC HAEM Panels 31.01.19 North West v1 FINAL.xlsx) collated by Steve Keeney Molecular Diagnostics Centre Central Manchester NHS Foundation Trust January 2019 on behalf of North West GLH for the GMS Haematology specialist test group. Gene Symbol submitted: TERC; Suggested initial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? Yes; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Phenotypes: 127550 / 614743 {Aplastic anemia}; PMID(s): none submitted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Inherited predisposition to acute myeloid leukaemia (AML) v0.16 | SRP72 | Louise Daugherty commented on gene: SRP72: Initial gene list (Consensus Genes for SPEC HAEM Panels 31.01.19 North West v1 FINAL.xlsx) collated by Steve Keeney Molecular Diagnostics Centre Central Manchester NHS Foundation Trust January 2019 on behalf of North West GLH for the GMS Haematology specialist test group. Gene Symbol submitted: SRP72; Suggested initial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? Yes; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Phenotypes: 602122 Bone marrow failure syndrome 1; PMID(s): none submitted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Inherited predisposition to acute myeloid leukaemia (AML) v0.16 | RUNX1 | Louise Daugherty commented on gene: RUNX1: Initial gene list (Consensus Genes for SPEC HAEM Panels 31.01.19 North West v1 FINAL.xlsx) collated by Steve Keeney Molecular Diagnostics Centre Central Manchester NHS Foundation Trust January 2019 on behalf of North West GLH for the GMS Haematology specialist test group. Gene Symbol submitted: RUNX1; Suggested initial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? Yes; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Phenotypes: 601626 Leukemia, acute myeloid; 601399 Platelet disorder, familial, with associated myeloid malignancy; PMID(s): none submitted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Inherited predisposition to acute myeloid leukaemia (AML) v0.16 | GATA2 | Louise Daugherty commented on gene: GATA2: Initial gene list (Consensus Genes for SPEC HAEM Panels 31.01.19 North West v1 FINAL.xlsx) collated by Steve Keeney Molecular Diagnostics Centre Central Manchester NHS Foundation Trust January 2019 on behalf of North West GLH for the GMS Haematology specialist test group. Gene Symbol submitted: GATA2; Suggested initial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? Yes; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Phenotypes: 601626 {Leukemia, acute myeloid, susceptibility to}; PMID(s): none submitted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Inherited predisposition to acute myeloid leukaemia (AML) v0.16 | ETV6 | Louise Daugherty commented on gene: ETV6: Initial gene list (Consensus Genes for SPEC HAEM Panels 31.01.19 North West v1 FINAL.xlsx) collated by Steve Keeney Molecular Diagnostics Centre Central Manchester NHS Foundation Trust January 2019 on behalf of North West GLH for the GMS Haematology specialist test group. Gene Symbol submitted: ETV6; Suggested initial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? Yes; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Phenotypes: 600618 / 601626 Leukemia, acute myeloid, somatic; PMID(s): none submitted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Inherited predisposition to acute myeloid leukaemia (AML) v0.16 | DDX41 | Louise Daugherty commented on gene: DDX41: Initial gene list (Consensus Genes for SPEC HAEM Panels 31.01.19 North West v1 FINAL.xlsx) collated by Steve Keeney Molecular Diagnostics Centre Central Manchester NHS Foundation Trust January 2019 on behalf of North West GLH for the GMS Haematology specialist test group. Gene Symbol submitted: DDX41; Suggested initial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? Yes; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Phenotypes: 616871 {Myeloproliferative/lymphoproliferative neoplasms, familial (multiple types), susceptibility to}; PMID(s): none submitted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Inherited predisposition to acute myeloid leukaemia (AML) v0.16 | CHEK2 | Louise Daugherty commented on gene: CHEK2: Initial gene list (Consensus Genes for SPEC HAEM Panels 31.01.19 North West v1 FINAL.xlsx) collated by Steve Keeney Molecular Diagnostics Centre Central Manchester NHS Foundation Trust January 2019 on behalf of North West GLH for the GMS Haematology specialist test group. Gene Symbol submitted: CHEK2; Suggested initial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? Yes; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Phenotypes: 609265 Li-Fraumeni syndrome; PMID(s): none submitted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Inherited predisposition to acute myeloid leukaemia (AML) v0.16 | CEBPA | Louise Daugherty commented on gene: CEBPA: Initial gene list (Consensus Genes for SPEC HAEM Panels 31.01.19 North West v1 FINAL.xlsx) collated by Steve Keeney Molecular Diagnostics Centre Central Manchester NHS Foundation Trust January 2019 on behalf of North West GLH for the GMS Haematology specialist test group. Gene Symbol submitted: CEBPA; Suggested initial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? Yes; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Phenotypes: 116897 / 601626 Leukemia, acute myeloid, somatic; PMID(s): none submitted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Inherited predisposition to acute myeloid leukaemia (AML) v0.16 | ANKRD26 | Louise Daugherty commented on gene: ANKRD26: Initial gene list (Consensus Genes for SPEC HAEM Panels 31.01.19 North West v1 FINAL.xlsx) collated by Steve Keeney Molecular Diagnostics Centre Central Manchester NHS Foundation Trust January 2019 on behalf of North West GLH for the GMS Haematology specialist test group. Gene Symbol submitted: ANKRD26; Suggested initial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? No; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Phenotypes: 610855; PMID(s): none submitted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Inherited predisposition to acute myeloid leukaemia (AML) v0.15 | TP53 | Steve Keeney reviewed gene: TP53: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: 151623 Li-Fraumeni syndrome; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Inherited predisposition to acute myeloid leukaemia (AML) v0.15 | TERT | Steve Keeney reviewed gene: TERT: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: 187270 / 601626 {Leukemia, acute myeloid}; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal; Current diagnostic: yes | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Inherited predisposition to acute myeloid leukaemia (AML) v0.15 | TERC | Steve Keeney reviewed gene: TERC: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: 127550 / 614743 {Aplastic anemia}; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Inherited predisposition to acute myeloid leukaemia (AML) v0.15 | SRP72 | Steve Keeney reviewed gene: SRP72: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: 602122 Bone marrow failure syndrome 1; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Inherited predisposition to acute myeloid leukaemia (AML) v0.15 | RUNX1 | Steve Keeney reviewed gene: RUNX1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: 601626 Leukemia, acute myeloid, 601399 Platelet disorder, familial, with associated myeloid malignancy; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Inherited predisposition to acute myeloid leukaemia (AML) v0.15 | GATA2 | Steve Keeney reviewed gene: GATA2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: 601626 {Leukemia, acute myeloid, susceptibility to}; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Inherited predisposition to acute myeloid leukaemia (AML) v0.15 | ETV6 | Steve Keeney reviewed gene: ETV6: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: 600618 / 601626 Leukemia, acute myeloid, somatic; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Inherited predisposition to acute myeloid leukaemia (AML) v0.15 | DDX41 | Steve Keeney reviewed gene: DDX41: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: 616871 {Myeloproliferative/lymphoproliferative neoplasms, familial (multiple types), susceptibility to}; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Inherited predisposition to acute myeloid leukaemia (AML) v0.15 | CHEK2 | Steve Keeney reviewed gene: CHEK2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: 609265 Li-Fraumeni syndrome; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Inherited predisposition to acute myeloid leukaemia (AML) v0.15 | CEBPA | Steve Keeney reviewed gene: CEBPA: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: 116897 / 601626 Leukemia, acute myeloid, somatic; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Inherited predisposition to acute myeloid leukaemia (AML) v0.15 | ANKRD26 | Steve Keeney reviewed gene: ANKRD26: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: 610855; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Inherited predisposition to acute myeloid leukaemia (AML) v0.14 | TP53 | Louise Daugherty Added phenotypes 151623 Li-Fraumeni syndrome for gene: TP53 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Inherited predisposition to acute myeloid leukaemia (AML) v0.14 | TERT | Louise Daugherty Added phenotypes 187270 / 601626 {Leukemia, acute myeloid} for gene: TERT | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Inherited predisposition to acute myeloid leukaemia (AML) v0.14 | TERC | Louise Daugherty Added phenotypes 127550 / 614743 {Aplastic anemia} for gene: TERC | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Inherited predisposition to acute myeloid leukaemia (AML) v0.14 | SRP72 | Louise Daugherty Added phenotypes 602122 Bone marrow failure syndrome 1 for gene: SRP72 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Inherited predisposition to acute myeloid leukaemia (AML) v0.14 | RUNX1 | Louise Daugherty Added phenotypes 601626 Leukemia, acute myeloid; 601399 Platelet disorder, familial, with associated myeloid malignancy for gene: RUNX1 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Inherited predisposition to acute myeloid leukaemia (AML) v0.14 | GATA2 | Louise Daugherty Added phenotypes 601626 {Leukemia, acute myeloid, susceptibility to} for gene: GATA2 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Inherited predisposition to acute myeloid leukaemia (AML) v0.14 | ETV6 | Louise Daugherty Added phenotypes 600618 / 601626 Leukemia, acute myeloid, somatic for gene: ETV6 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Inherited predisposition to acute myeloid leukaemia (AML) v0.14 | DDX41 | Louise Daugherty Added phenotypes 616871 {Myeloproliferative/lymphoproliferative neoplasms, familial (multiple types), susceptibility to} for gene: DDX41 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Inherited predisposition to acute myeloid leukaemia (AML) v0.14 | CHEK2 | Louise Daugherty Added phenotypes 609265 Li-Fraumeni syndrome for gene: CHEK2 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Inherited predisposition to acute myeloid leukaemia (AML) v0.14 | CEBPA | Louise Daugherty Added phenotypes 116897 / 601626 Leukemia, acute myeloid, somatic for gene: CEBPA | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Inherited predisposition to acute myeloid leukaemia (AML) v0.14 | ANKRD26 | Louise Daugherty Added phenotypes 610855 for gene: ANKRD26 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Inherited predisposition to acute myeloid leukaemia (AML) v0.12 | TP53 | Louise Daugherty Source North West GLH was added to TP53. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Inherited predisposition to acute myeloid leukaemia (AML) v0.12 | TERT | Louise Daugherty Source North West GLH was added to TERT. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Inherited predisposition to acute myeloid leukaemia (AML) v0.12 | TERC | Louise Daugherty Source North West GLH was added to TERC. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Inherited predisposition to acute myeloid leukaemia (AML) v0.12 | SRP72 | Louise Daugherty Source North West GLH was added to SRP72. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Inherited predisposition to acute myeloid leukaemia (AML) v0.12 | RUNX1 | Louise Daugherty Source North West GLH was added to RUNX1. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Inherited predisposition to acute myeloid leukaemia (AML) v0.12 | GATA2 | Louise Daugherty Source North West GLH was added to GATA2. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Inherited predisposition to acute myeloid leukaemia (AML) v0.12 | ETV6 | Louise Daugherty Source North West GLH was added to ETV6. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Inherited predisposition to acute myeloid leukaemia (AML) v0.12 | DDX41 | Louise Daugherty Source North West GLH was added to DDX41. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Inherited predisposition to acute myeloid leukaemia (AML) v0.12 | CHEK2 | Louise Daugherty Source North West GLH was added to CHEK2. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Inherited predisposition to acute myeloid leukaemia (AML) v0.12 | CEBPA | Louise Daugherty Source North West GLH was added to CEBPA. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Inherited predisposition to acute myeloid leukaemia (AML) v0.12 | ANKRD26 | Louise Daugherty Source North West GLH was added to ANKRD26. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Inherited predisposition to acute myeloid leukaemia (AML) v0.11 | TP53 | Louise Daugherty commented on gene: TP53: Initial gene list (Consensus Genes for Panels_Haem_SHEFFIELD-29.01.2019.xlsx) collated by Mandy Nesbitt Sheffield Diagnostic Genetics Service, Sheffield Children's NHS Trust January 2019 on behalf of Yorkshire and North East GLH for the GMS Haematology specialist test group. Gene Symbol submitted: TP53; Suggested intial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? No; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Phenotypes: 151623 Li-Fraumeni syndrome; PMID(s): none submitted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Inherited predisposition to acute myeloid leukaemia (AML) v0.11 | TERT | Louise Daugherty commented on gene: TERT: Initial gene list (Consensus Genes for Panels_Haem_SHEFFIELD-29.01.2019.xlsx) collated by Mandy Nesbitt Sheffield Diagnostic Genetics Service, Sheffield Children's NHS Trust January 2019 on behalf of Yorkshire and North East GLH for the GMS Haematology specialist test group. Gene Symbol submitted: TERT; Suggested intial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? Yes; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal; Phenotypes: 601626 {Leukemia, acute myeloid}; PMID(s): none submitted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Inherited predisposition to acute myeloid leukaemia (AML) v0.11 | TERC | Louise Daugherty commented on gene: TERC: Initial gene list (Consensus Genes for Panels_Haem_SHEFFIELD-29.01.2019.xlsx) collated by Mandy Nesbitt Sheffield Diagnostic Genetics Service, Sheffield Children's NHS Trust January 2019 on behalf of Yorkshire and North East GLH for the GMS Haematology specialist test group. Gene Symbol submitted: TERC; Suggested intial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? Yes; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Phenotypes: 614743 {Aplastic anemia}; PMID(s): none submitted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Inherited predisposition to acute myeloid leukaemia (AML) v0.11 | SRP72 | Louise Daugherty commented on gene: SRP72: Initial gene list (Consensus Genes for Panels_Haem_SHEFFIELD-29.01.2019.xlsx) collated by Mandy Nesbitt Sheffield Diagnostic Genetics Service, Sheffield Children's NHS Trust January 2019 on behalf of Yorkshire and North East GLH for the GMS Haematology specialist test group. Gene Symbol submitted: SRP72; Suggested intial gene rating: I don't know; Are variants in this gene part of your current diagnostic practice? Yes; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Phenotypes: 602122 Bone marrow failure syndrome 1;; PMID(s): none submitted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Inherited predisposition to acute myeloid leukaemia (AML) v0.11 | RUNX1 | Louise Daugherty commented on gene: RUNX1: Initial gene list (Consensus Genes for Panels_Haem_SHEFFIELD-29.01.2019.xlsx) collated by Mandy Nesbitt Sheffield Diagnostic Genetics Service, Sheffield Children's NHS Trust January 2019 on behalf of Yorkshire and North East GLH for the GMS Haematology specialist test group. Gene Symbol submitted: RUNX1; Suggested intial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? No; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Phenotypes: 601626 Leukemia, acute myeloid; 601399 Platelet disorder, familial, with associated myeloid malignancy; PMID(s): none submitted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Inherited predisposition to acute myeloid leukaemia (AML) v0.11 | GATA2 | Louise Daugherty commented on gene: GATA2: Initial gene list (Consensus Genes for Panels_Haem_SHEFFIELD-29.01.2019.xlsx) collated by Mandy Nesbitt Sheffield Diagnostic Genetics Service, Sheffield Children's NHS Trust January 2019 on behalf of Yorkshire and North East GLH for the GMS Haematology specialist test group. Gene Symbol submitted: GATA2; Suggested intial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? Yes; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Phenotypes: 601626 {Leukemia, acute myeloid, susceptibility to}; PMID(s): none submitted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Inherited predisposition to acute myeloid leukaemia (AML) v0.11 | ETV6 | Louise Daugherty commented on gene: ETV6: Initial gene list (Consensus Genes for Panels_Haem_SHEFFIELD-29.01.2019.xlsx) collated by Mandy Nesbitt Sheffield Diagnostic Genetics Service, Sheffield Children's NHS Trust January 2019 on behalf of Yorkshire and North East GLH for the GMS Haematology specialist test group. Gene Symbol submitted: ETV6; Suggested intial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? No; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Phenotypes: 601626 Leukemia, acute myeloid, somatic; PMID(s): none submitted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Inherited predisposition to acute myeloid leukaemia (AML) v0.11 | DDX41 | Louise Daugherty commented on gene: DDX41: Initial gene list (Consensus Genes for Panels_Haem_SHEFFIELD-29.01.2019.xlsx) collated by Mandy Nesbitt Sheffield Diagnostic Genetics Service, Sheffield Children's NHS Trust January 2019 on behalf of Yorkshire and North East GLH for the GMS Haematology specialist test group. Gene Symbol submitted: DDX41; Suggested intial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? No; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Phenotypes: 616871 {Myeloproliferative/lymphoproliferative neoplasms, familial (multiple types), susceptibility to}; PMID(s): none submitted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Inherited predisposition to acute myeloid leukaemia (AML) v0.11 | CHEK2 | Louise Daugherty commented on gene: CHEK2: Initial gene list (Consensus Genes for Panels_Haem_SHEFFIELD-29.01.2019.xlsx) collated by Mandy Nesbitt Sheffield Diagnostic Genetics Service, Sheffield Children's NHS Trust January 2019 on behalf of Yorkshire and North East GLH for the GMS Haematology specialist test group. Gene Symbol submitted: CHEK2; Suggested intial gene rating: I don't know; Are variants in this gene part of your current diagnostic practice? No; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Phenotypes: 609265 Li-Fraumeni syndrome; PMID(s): none submitted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Inherited predisposition to acute myeloid leukaemia (AML) v0.11 | CEBPA | Louise Daugherty commented on gene: CEBPA: Initial gene list (Consensus Genes for Panels_Haem_SHEFFIELD-29.01.2019.xlsx) collated by Mandy Nesbitt Sheffield Diagnostic Genetics Service, Sheffield Children's NHS Trust January 2019 on behalf of Yorkshire and North East GLH for the GMS Haematology specialist test group. Gene Symbol submitted: CEBPA; Suggested intial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? No; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Phenotypes: 601626 Leukemia, acute myeloid, somatic; PMID(s): none submitted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Inherited predisposition to acute myeloid leukaemia (AML) v0.10 | TP53 | Mandy nesbitt reviewed gene: TP53: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: 151623 Li-Fraumeni syndrome; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Inherited predisposition to acute myeloid leukaemia (AML) v0.10 | TERT | Mandy nesbitt reviewed gene: TERT: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: 601626 {Leukemia, acute myeloid}; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal; Current diagnostic: yes | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Inherited predisposition to acute myeloid leukaemia (AML) v0.10 | TERC | Mandy nesbitt reviewed gene: TERC: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: 614743 {Aplastic anemia}; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Inherited predisposition to acute myeloid leukaemia (AML) v0.10 | SRP72 | Mandy nesbitt reviewed gene: SRP72: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: 602122 Bone marrow failure syndrome 1; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Inherited predisposition to acute myeloid leukaemia (AML) v0.10 | RUNX1 | Mandy nesbitt reviewed gene: RUNX1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: 601626 Leukemia, acute myeloid, 601399 Platelet disorder, familial, with associated myeloid malignancy; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Inherited predisposition to acute myeloid leukaemia (AML) v0.10 | GATA2 | Mandy nesbitt reviewed gene: GATA2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: 601626 {Leukemia, acute myeloid, susceptibility to}; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Inherited predisposition to acute myeloid leukaemia (AML) v0.10 | ETV6 | Mandy nesbitt reviewed gene: ETV6: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: 601626 Leukemia, acute myeloid, somatic; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Inherited predisposition to acute myeloid leukaemia (AML) v0.10 | DDX41 | Mandy nesbitt reviewed gene: DDX41: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: 616871 {Myeloproliferative/lymphoproliferative neoplasms, familial (multiple types), susceptibility to}; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Inherited predisposition to acute myeloid leukaemia (AML) v0.10 | CHEK2 | Mandy nesbitt reviewed gene: CHEK2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: 609265 Li-Fraumeni syndrome; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Inherited predisposition to acute myeloid leukaemia (AML) v0.10 | CEBPA | Mandy nesbitt reviewed gene: CEBPA: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: 601626 Leukemia, acute myeloid, somatic; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Inherited predisposition to acute myeloid leukaemia (AML) v0.9 | TP53 | Louise Daugherty Added phenotypes 151623 Li-Fraumeni syndrome for gene: TP53 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Inherited predisposition to acute myeloid leukaemia (AML) v0.9 | TERT | Louise Daugherty Added phenotypes 601626 {Leukemia, acute myeloid} for gene: TERT | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Inherited predisposition to acute myeloid leukaemia (AML) v0.9 | TERC | Louise Daugherty Added phenotypes 614743 {Aplastic anemia} for gene: TERC | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Inherited predisposition to acute myeloid leukaemia (AML) v0.9 | SRP72 | Louise Daugherty Added phenotypes 602122 Bone marrow failure syndrome 1 for gene: SRP72 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Inherited predisposition to acute myeloid leukaemia (AML) v0.9 | RUNX1 | Louise Daugherty Added phenotypes 601626 Leukemia, acute myeloid; 601399 Platelet disorder, familial, with associated myeloid malignancy for gene: RUNX1 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Inherited predisposition to acute myeloid leukaemia (AML) v0.9 | GATA2 | Louise Daugherty Added phenotypes 601626 {Leukemia, acute myeloid, susceptibility to} for gene: GATA2 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Inherited predisposition to acute myeloid leukaemia (AML) v0.9 | ETV6 | Louise Daugherty Added phenotypes 601626 Leukemia, acute myeloid, somatic for gene: ETV6 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Inherited predisposition to acute myeloid leukaemia (AML) v0.9 | DDX41 | Louise Daugherty Added phenotypes 616871 {Myeloproliferative/lymphoproliferative neoplasms, familial (multiple types), susceptibility to} for gene: DDX41 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Inherited predisposition to acute myeloid leukaemia (AML) v0.9 | CHEK2 | Louise Daugherty Added phenotypes 609265 Li-Fraumeni syndrome for gene: CHEK2 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Inherited predisposition to acute myeloid leukaemia (AML) v0.9 | CEBPA | Louise Daugherty Added phenotypes 601626 Leukemia, acute myeloid, somatic for gene: CEBPA | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Inherited predisposition to acute myeloid leukaemia (AML) v0.7 | TP53 | Louise Daugherty Source Yorkshire and North East GLH was added to TP53. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Inherited predisposition to acute myeloid leukaemia (AML) v0.7 | TERT | Louise Daugherty Source Yorkshire and North East GLH was added to TERT. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Inherited predisposition to acute myeloid leukaemia (AML) v0.7 | TERC | Louise Daugherty Source Yorkshire and North East GLH was added to TERC. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Inherited predisposition to acute myeloid leukaemia (AML) v0.7 | SRP72 | Louise Daugherty Source Yorkshire and North East GLH was added to SRP72. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Inherited predisposition to acute myeloid leukaemia (AML) v0.7 | RUNX1 | Louise Daugherty Source Yorkshire and North East GLH was added to RUNX1. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Inherited predisposition to acute myeloid leukaemia (AML) v0.7 | GATA2 | Louise Daugherty Source Yorkshire and North East GLH was added to GATA2. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Inherited predisposition to acute myeloid leukaemia (AML) v0.7 | ETV6 | Louise Daugherty Source Yorkshire and North East GLH was added to ETV6. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Inherited predisposition to acute myeloid leukaemia (AML) v0.7 | DDX41 | Louise Daugherty Source Yorkshire and North East GLH was added to DDX41. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Inherited predisposition to acute myeloid leukaemia (AML) v0.7 | CHEK2 | Louise Daugherty Source Yorkshire and North East GLH was added to CHEK2. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Inherited predisposition to acute myeloid leukaemia (AML) v0.7 | CEBPA | Louise Daugherty Source Yorkshire and North East GLH was added to CEBPA. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Inherited predisposition to acute myeloid leukaemia (AML) v0.6 | TP53 | Louise Daugherty reviewed gene: TP53: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Inherited predisposition to acute myeloid leukaemia (AML) v0.6 | TERT | Louise Daugherty reviewed gene: TERT: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Inherited predisposition to acute myeloid leukaemia (AML) v0.6 | TERC | Louise Daugherty reviewed gene: TERC: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Inherited predisposition to acute myeloid leukaemia (AML) v0.6 | SRP72 | Louise Daugherty reviewed gene: SRP72: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Inherited predisposition to acute myeloid leukaemia (AML) v0.6 | RUNX1 | Louise Daugherty reviewed gene: RUNX1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Inherited predisposition to acute myeloid leukaemia (AML) v0.6 | GATA2 | Louise Daugherty reviewed gene: GATA2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Inherited predisposition to acute myeloid leukaemia (AML) v0.6 | ETV6 | Louise Daugherty reviewed gene: ETV6: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Inherited predisposition to acute myeloid leukaemia (AML) v0.6 | DDX41 | Louise Daugherty reviewed gene: DDX41: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Inherited predisposition to acute myeloid leukaemia (AML) v0.6 | CHEK2 | Louise Daugherty reviewed gene: CHEK2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Inherited predisposition to acute myeloid leukaemia (AML) v0.6 | CEBPA | Louise Daugherty reviewed gene: CEBPA: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Inherited predisposition to acute myeloid leukaemia (AML) v0.6 | ANKRD26 | Louise Daugherty reviewed gene: ANKRD26: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Inherited predisposition to acute myeloid leukaemia (AML) v0.5 | TP53 | Carl Fratter reviewed gene: TP53: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Inherited predisposition to acute myeloid leukaemia (AML) v0.5 | TERT | Carl Fratter reviewed gene: TERT: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Inherited predisposition to acute myeloid leukaemia (AML) v0.5 | TERC | Carl Fratter reviewed gene: TERC: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Inherited predisposition to acute myeloid leukaemia (AML) v0.5 | SRP72 | Carl Fratter reviewed gene: SRP72: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Inherited predisposition to acute myeloid leukaemia (AML) v0.5 | RUNX1 | Carl Fratter reviewed gene: RUNX1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Inherited predisposition to acute myeloid leukaemia (AML) v0.5 | GATA2 | Carl Fratter reviewed gene: GATA2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Inherited predisposition to acute myeloid leukaemia (AML) v0.5 | ETV6 | Carl Fratter reviewed gene: ETV6: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Inherited predisposition to acute myeloid leukaemia (AML) v0.5 | DDX41 | Carl Fratter reviewed gene: DDX41: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Inherited predisposition to acute myeloid leukaemia (AML) v0.5 | CHEK2 | Carl Fratter reviewed gene: CHEK2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Inherited predisposition to acute myeloid leukaemia (AML) v0.5 | CEBPA | Carl Fratter reviewed gene: CEBPA: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Inherited predisposition to acute myeloid leukaemia (AML) v0.5 | ANKRD26 | Carl Fratter reviewed gene: ANKRD26: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Inherited predisposition to acute myeloid leukaemia (AML) v0.4 | TP53 |
Louise Daugherty Source NHS GMS was added to TP53. Added phenotypes 151623 (OMIM phenotype description ID) for gene: TP53 |
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| Inherited predisposition to acute myeloid leukaemia (AML) v0.4 | TERT |
Louise Daugherty Source NHS GMS was added to TERT. Added phenotypes 187270 (OMIN gene description ID) for gene: TERT |
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| Inherited predisposition to acute myeloid leukaemia (AML) v0.4 | TERC |
Louise Daugherty Source NHS GMS was added to TERC. Added phenotypes 127550 (OMIM phenotype description ID) for gene: TERC |
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| Inherited predisposition to acute myeloid leukaemia (AML) v0.4 | SRP72 |
Louise Daugherty Source NHS GMS was added to SRP72. Added phenotypes 602122 (OMIN gene description ID) for gene: SRP72 |
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| Inherited predisposition to acute myeloid leukaemia (AML) v0.4 | RUNX1 |
Louise Daugherty Source NHS GMS was added to RUNX1. Added phenotypes 601399 (OMIM phenotype description ID) for gene: RUNX1 |
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| Inherited predisposition to acute myeloid leukaemia (AML) v0.4 | GATA2 |
Louise Daugherty Source NHS GMS was added to GATA2. Added phenotypes 137295 (OMIN gene description ID) for gene: GATA2 |
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| Inherited predisposition to acute myeloid leukaemia (AML) v0.4 | ETV6 |
Louise Daugherty Source NHS GMS was added to ETV6. Added phenotypes 616216 (OMIM phenotype description ID); 600618 (OMIN gene description ID) for gene: ETV6 |
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| Inherited predisposition to acute myeloid leukaemia (AML) v0.4 | DDX41 |
Louise Daugherty Source NHS GMS was added to DDX41. Added phenotypes 616871 (OMIM phenotype description ID) for gene: DDX41 |
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| Inherited predisposition to acute myeloid leukaemia (AML) v0.4 | CHEK2 |
Louise Daugherty Source NHS GMS was added to CHEK2. Added phenotypes 609265 (OMIM phenotype description ID) for gene: CHEK2 |
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| Inherited predisposition to acute myeloid leukaemia (AML) v0.4 | CEBPA |
Louise Daugherty Source NHS GMS was added to CEBPA. Added phenotypes 601626 (OMIM phenotype description ID); 116897 (OMIN gene description ID) for gene: CEBPA |
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| Inherited predisposition to acute myeloid leukaemia (AML) v0.4 | ANKRD26 |
Louise Daugherty Source NHS GMS was added to ANKRD26. Added phenotypes 610855 (OMIN gene description ID); not submitted (OMIM phenotype description ID) for gene: ANKRD26 |
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| Inherited predisposition to acute myeloid leukaemia (AML) v0.3 | TP53 |
Louise Daugherty Source Expert Review Amber was added to TP53. Mode of inheritance for gene TP53 was changed from to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Added phenotypes 151623 (OMIM phenotype description ID) for gene: TP53 Publications for gene TP53 were changed from to 28600339 Rating Changed from Red List (low evidence) to Amber List (moderate evidence) |
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| Inherited predisposition to acute myeloid leukaemia (AML) v0.3 | TERT |
Louise Daugherty Source Expert Review Amber was added to TERT. Mode of inheritance for gene TERT was changed from to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Added phenotypes 187270 (OMIN gene description ID) for gene: TERT Publications for gene TERT were changed from to 23926458; 28600339 Rating Changed from Red List (low evidence) to Amber List (moderate evidence) |
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| Inherited predisposition to acute myeloid leukaemia (AML) v0.3 | TERC |
Louise Daugherty Source Expert Review Amber was added to TERC. Mode of inheritance for gene TERC was changed from to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Added phenotypes 127550 (OMIM phenotype description ID) for gene: TERC Publications for gene TERC were changed from to 23926458; 28600339 Rating Changed from Red List (low evidence) to Amber List (moderate evidence) |
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| Inherited predisposition to acute myeloid leukaemia (AML) v0.3 | SRP72 |
Louise Daugherty Source Expert Review Amber was added to SRP72. Mode of inheritance for gene SRP72 was changed from to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Added phenotypes 602122 (OMIN gene description ID) for gene: SRP72 Publications for gene SRP72 were changed from to 23926458; 28600339 Rating Changed from Red List (low evidence) to Amber List (moderate evidence) |
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| Inherited predisposition to acute myeloid leukaemia (AML) v0.3 | RUNX1 |
Louise Daugherty Source Expert Review Amber was added to RUNX1. Mode of inheritance for gene RUNX1 was changed from to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Added phenotypes 601399 (OMIM phenotype description ID) for gene: RUNX1 Publications for gene RUNX1 were changed from to 19357396; 23926458; 11830488 Rating Changed from Red List (low evidence) to Amber List (moderate evidence) |
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| Inherited predisposition to acute myeloid leukaemia (AML) v0.3 | GATA2 |
Louise Daugherty Source Expert Review Amber was added to GATA2. Mode of inheritance for gene GATA2 was changed from to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Added phenotypes 137295 (OMIN gene description ID) for gene: GATA2 Publications for gene GATA2 were changed from to 23926458; 28600339 Rating Changed from Red List (low evidence) to Amber List (moderate evidence) |
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| Inherited predisposition to acute myeloid leukaemia (AML) v0.3 | ETV6 |
Louise Daugherty Source Expert Review Amber was added to ETV6. Mode of inheritance for gene ETV6 was changed from to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Added phenotypes 616216 (OMIM phenotype description ID); 600618 (OMIN gene description ID) for gene: ETV6 Publications for gene ETV6 were changed from to 28600339 Rating Changed from Red List (low evidence) to Amber List (moderate evidence) |
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| Inherited predisposition to acute myeloid leukaemia (AML) v0.3 | DDX41 |
Louise Daugherty Source Expert Review Amber was added to DDX41. Mode of inheritance for gene DDX41 was changed from to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Added phenotypes 616871 (OMIM phenotype description ID) for gene: DDX41 Publications for gene DDX41 were changed from to 25920683; 26712909 Rating Changed from Red List (low evidence) to Amber List (moderate evidence) |
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| Inherited predisposition to acute myeloid leukaemia (AML) v0.3 | CHEK2 |
Louise Daugherty Source Expert Review Amber was added to CHEK2. Mode of inheritance for gene CHEK2 was changed from to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Added phenotypes 609265 (OMIM phenotype description ID) for gene: CHEK2 Publications for gene CHEK2 were changed from to 29902706 Rating Changed from Red List (low evidence) to Amber List (moderate evidence) |
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| Inherited predisposition to acute myeloid leukaemia (AML) v0.3 | CEBPA |
Louise Daugherty Source Expert Review Amber was added to CEBPA. Mode of inheritance for gene CEBPA was changed from to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Added phenotypes 601626 (OMIM phenotype description ID); 116897 (OMIN gene description ID) for gene: CEBPA Publications for gene CEBPA were changed from to 15575056; 23926458 Rating Changed from Red List (low evidence) to Amber List (moderate evidence) |
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| Inherited predisposition to acute myeloid leukaemia (AML) v0.3 | ANKRD26 |
Louise Daugherty Source Expert Review Amber was added to ANKRD26. Mode of inheritance for gene ANKRD26 was changed from to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Added phenotypes 610855 (OMIN gene description ID); not submitted (OMIM phenotype description ID) for gene: ANKRD26 Publications for gene ANKRD26 were changed from to 23926458 Rating Changed from Red List (low evidence) to Amber List (moderate evidence) |
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| Inherited predisposition to acute myeloid leukaemia (AML) v0.2 | TP53 |
Louise Daugherty gene: TP53 was added gene: TP53 was added to Inherited predisposition to acute myeloid leukaemia (AML). Sources: Wessex and West Midlands GLH Mode of inheritance for gene: TP53 was set to |
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| Inherited predisposition to acute myeloid leukaemia (AML) v0.2 | TERT |
Louise Daugherty gene: TERT was added gene: TERT was added to Inherited predisposition to acute myeloid leukaemia (AML). Sources: Wessex and West Midlands GLH Mode of inheritance for gene: TERT was set to |
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| Inherited predisposition to acute myeloid leukaemia (AML) v0.2 | TERC |
Louise Daugherty gene: TERC was added gene: TERC was added to Inherited predisposition to acute myeloid leukaemia (AML). Sources: Wessex and West Midlands GLH Mode of inheritance for gene: TERC was set to |
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| Inherited predisposition to acute myeloid leukaemia (AML) v0.2 | SRP72 |
Louise Daugherty gene: SRP72 was added gene: SRP72 was added to Inherited predisposition to acute myeloid leukaemia (AML). Sources: Wessex and West Midlands GLH Mode of inheritance for gene: SRP72 was set to |
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| Inherited predisposition to acute myeloid leukaemia (AML) v0.2 | RUNX1 |
Louise Daugherty gene: RUNX1 was added gene: RUNX1 was added to Inherited predisposition to acute myeloid leukaemia (AML). Sources: Wessex and West Midlands GLH Mode of inheritance for gene: RUNX1 was set to |
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| Inherited predisposition to acute myeloid leukaemia (AML) v0.2 | GATA2 |
Louise Daugherty gene: GATA2 was added gene: GATA2 was added to Inherited predisposition to acute myeloid leukaemia (AML). Sources: Wessex and West Midlands GLH Mode of inheritance for gene: GATA2 was set to |
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| Inherited predisposition to acute myeloid leukaemia (AML) v0.2 | ETV6 |
Louise Daugherty gene: ETV6 was added gene: ETV6 was added to Inherited predisposition to acute myeloid leukaemia (AML). Sources: Wessex and West Midlands GLH Mode of inheritance for gene: ETV6 was set to |
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| Inherited predisposition to acute myeloid leukaemia (AML) v0.2 | DDX41 |
Louise Daugherty gene: DDX41 was added gene: DDX41 was added to Inherited predisposition to acute myeloid leukaemia (AML). Sources: Wessex and West Midlands GLH Mode of inheritance for gene: DDX41 was set to |
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| Inherited predisposition to acute myeloid leukaemia (AML) v0.2 | CHEK2 |
Louise Daugherty gene: CHEK2 was added gene: CHEK2 was added to Inherited predisposition to acute myeloid leukaemia (AML). Sources: Wessex and West Midlands GLH Mode of inheritance for gene: CHEK2 was set to |
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| Inherited predisposition to acute myeloid leukaemia (AML) v0.2 | CEBPA |
Louise Daugherty gene: CEBPA was added gene: CEBPA was added to Inherited predisposition to acute myeloid leukaemia (AML). Sources: Wessex and West Midlands GLH Mode of inheritance for gene: CEBPA was set to |
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| Inherited predisposition to acute myeloid leukaemia (AML) v0.2 | ANKRD26 |
Louise Daugherty gene: ANKRD26 was added gene: ANKRD26 was added to Inherited predisposition to acute myeloid leukaemia (AML). Sources: Wessex and West Midlands GLH Mode of inheritance for gene: ANKRD26 was set to |
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| Inherited predisposition to acute myeloid leukaemia (AML) v0.0 |
Ellen McDonagh Added Panel Inherited predisposition to acute myeloid leukaemia (AML) Set panel types to: GMS Rare Disease |
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