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Confirmed Fanconi anaemia or Bloom syndrome v1.11 XRCC2 Arina Puzriakova Phenotypes for gene: XRCC2 were changed from 617247 ?Fanconi anemia, complementation group U to ?Fanconi anemia, complementation group U, OMIM:617247; Fanconi anemia complementation group U, MONDO:0014987
Confirmed Fanconi anaemia or Bloom syndrome v1.10 XRCC2 Arina Puzriakova Publications for gene: XRCC2 were set to
Confirmed Fanconi anaemia or Bloom syndrome v1.9 XRCC2 Arina Puzriakova Classified gene: XRCC2 as Amber List (moderate evidence)
Confirmed Fanconi anaemia or Bloom syndrome v1.9 XRCC2 Arina Puzriakova Added comment: Comment on list classification: Single FA-U patient in literature at present but with supportive functional data. Additional published cases required to confirm pathogenicity and support inclusion of XRCC2 on a diagnostic FA panel.
Confirmed Fanconi anaemia or Bloom syndrome v1.9 XRCC2 Arina Puzriakova Gene: xrcc2 has been classified as Amber List (Moderate Evidence).
Confirmed Fanconi anaemia or Bloom syndrome v1.8 Catherine Snow List of related panels changed from R229 to R229; R258
Panel version has been signed off
Confirmed Fanconi anaemia or Bloom syndrome v1.7 Catherine Snow Panel version has been signed off
Confirmed Fanconi anaemia or Bloom syndrome v1.6 Catherine Snow Panel types changed to GMS Rare Disease Virtual; GMS Rare Disease; GMS signed-off
Panel version has been signed off
Confirmed Fanconi anaemia or Bloom syndrome v1.5 XRCC2 Tom Cullup reviewed gene: XRCC2: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 22232082, 27208205; Phenotypes: Fanconi anaemia complementation group U; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Confirmed Fanconi anaemia or Bloom syndrome v1.3 Catherine Snow Panel version has been signed off
Confirmed Fanconi anaemia or Bloom syndrome v1.0 Louise Daugherty promoted panel to version 1.0
Confirmed Fanconi anaemia or Bloom syndrome v0.29 Louise Daugherty Panel types changed to GMS Rare Disease; GMS signed-off
Confirmed Fanconi anaemia or Bloom syndrome v0.28 Louise Daugherty List of related panels changed from to R229
Confirmed Fanconi anaemia or Bloom syndrome v0.27 RAD51C Louise Daugherty changed review comment from: Discrepant reviews for RAD51C : 1 GLH GREEN (YNEGLH), 3 GLH AMBER (WWMGLH, NWGLH, LSGLH). To be discussed at July workshop to agree rating.; to: Discrepant reviews for RAD51C : 1 GLH GREEN (YNEGLH), 3 GLH AMBER (WWMGLH, NWGLH, LSGLH). To be discussed at July workshop to agree rating.
NWGLH: GREEN/AMBER – would go with the consensus
LSGLH: AMBER – one family reported
Confirmed Fanconi anaemia or Bloom syndrome v0.27 RAD51C Louise Daugherty Classified gene: RAD51C as Amber List (moderate evidence)
Confirmed Fanconi anaemia or Bloom syndrome v0.27 RAD51C Louise Daugherty Added comment: Comment on list classification: As discussed with the GMS Haematology Specialist Test Group at workshop 2nd July 2019. All agreed that there is only enough evidence to rate this gene Amber.
Confirmed Fanconi anaemia or Bloom syndrome v0.27 RAD51C Louise Daugherty Gene: rad51c has been classified as Amber List (Moderate Evidence).
Confirmed Fanconi anaemia or Bloom syndrome v0.26 RAD51C Louise Daugherty commented on gene: RAD51C: Discrepant reviews for RAD51C : 1 GLH GREEN (YNEGLH), 3 GLH AMBER (WWMGLH, NWGLH, LSGLH). To be discussed at July workshop to agree rating.
Confirmed Fanconi anaemia or Bloom syndrome v0.26 FANCM Louise Daugherty Classified gene: FANCM as Red List (low evidence)
Confirmed Fanconi anaemia or Bloom syndrome v0.26 FANCM Louise Daugherty Added comment: Comment on list classification: As discussed with the GMS Haematology Specialist Test Group at workshop 2nd July 2019. All agreed that there is only enough evidence to rate this gene Red
Confirmed Fanconi anaemia or Bloom syndrome v0.26 FANCM Louise Daugherty Gene: fancm has been classified as Red List (Low Evidence).
Confirmed Fanconi anaemia or Bloom syndrome v0.25 FANCM Louise Daugherty changed review comment from: Discrepant reviews for FANCM: 2 GLH GREEN (YNEGLH, NWGLH), 2 GLH RED (LSGLH, WWMGLH). To be discussed at July workshop to agree rating.
LSGLH: see Genet Med. 2018 Apr;20(4):452-457. doi: 10.1038/gim.2017.123. Epub 2017 Aug 24. Individuals with FANCM biallelic mutations do not develop Fanconi anemia, but show risk for breast cancer, chemotherapy toxicity and may display chromosome fragility; to: Discrepant reviews for FANCM: 2 GLH GREEN (YNEGLH, NWGLH), 2 GLH RED (LSGLH, WWMGLH). To be discussed at July workshop to agree rating.
LSGLH: see Genet Med. 2018 Apr;20(4):452-457. doi: 10.1038/gim.2017.123. Epub 2017 Aug 24 (PMID: 28837162 ). Individuals with FANCM biallelic mutations do not develop Fanconi anemia, but show risk for breast cancer, chemotherapy toxicity and may display chromosome fragility
Confirmed Fanconi anaemia or Bloom syndrome v0.25 FANCM Louise Daugherty Publications for gene: FANCM were set to 19423727; 25078778; 16116422
Confirmed Fanconi anaemia or Bloom syndrome v0.24 FANCM Louise Daugherty changed review comment from: Discrepant reviews for FANCM: 2 GLH GREEN (YNEGLH, NWGLH), 2 GLH RED (LSGLH, WWMGLH). To be discussed at July workshop to agree rating.; to: Discrepant reviews for FANCM: 2 GLH GREEN (YNEGLH, NWGLH), 2 GLH RED (LSGLH, WWMGLH). To be discussed at July workshop to agree rating.
LSGLH: see Genet Med. 2018 Apr;20(4):452-457. doi: 10.1038/gim.2017.123. Epub 2017 Aug 24. Individuals with FANCM biallelic mutations do not develop Fanconi anemia, but show risk for breast cancer, chemotherapy toxicity and may display chromosome fragility
Confirmed Fanconi anaemia or Bloom syndrome v0.24 FANCM Louise Daugherty commented on gene: FANCM: Discrepant reviews for FANCM: 2 GLH GREEN (YNEGLH, NWGLH), 2 GLH RED (LSGLH, WWMGLH). To be discussed at July workshop to agree rating.
Confirmed Fanconi anaemia or Bloom syndrome v0.24 BRCA1 Louise Daugherty changed review comment from: Discrepant reviews for BRCA1 : 3 GLH GREEN, 1 GLH AMBER. To be discussed at July workshop to agree rating.; to: Discrepant reviews for BRCA1 : 3 GLH GREEN (YNEGLH, NWGLH, LSGLH), 1 GLH AMBER (WWMGLH). To be discussed at July workshop to agree rating.
Confirmed Fanconi anaemia or Bloom syndrome v0.24 BRCA1 Louise Daugherty Classified gene: BRCA1 as Green List (high evidence)
Confirmed Fanconi anaemia or Bloom syndrome v0.24 BRCA1 Louise Daugherty Added comment: Comment on list classification: Upgraded from Amber to Green. As discussed with the GMS Haematology Specialist Test Group at workshop 2nd July 2019. All agreed that there is enough evidence to rate this gene Green.
Confirmed Fanconi anaemia or Bloom syndrome v0.24 BRCA1 Louise Daugherty Gene: brca1 has been classified as Green List (High Evidence).
Confirmed Fanconi anaemia or Bloom syndrome v0.23 BRCA1 Louise Daugherty commented on gene: BRCA1: Discrepant reviews for BRCA1 : 3 GLH GREEN, 1 GLH AMBER. To be discussed at July workshop to agree rating.
Confirmed Fanconi anaemia or Bloom syndrome v0.21 XRCC2 Louise Daugherty Classified gene: XRCC2 as Red List (low evidence)
Confirmed Fanconi anaemia or Bloom syndrome v0.21 XRCC2 Louise Daugherty Gene: xrcc2 has been classified as Red List (Low Evidence).
Confirmed Fanconi anaemia or Bloom syndrome v0.20 XRCC2 Mandy nesbitt edited their review of gene: XRCC2: Changed rating: RED
Confirmed Fanconi anaemia or Bloom syndrome v0.20 UBE2T Louise Daugherty commented on gene: UBE2T: 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: UBE2T; Suggested initial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? No; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Phenotypes: Falcon anemia;Fanconi anemia, complementation group T, 616435; PMID(s): none submitted
Confirmed Fanconi anaemia or Bloom syndrome v0.20 TOP3A Louise Daugherty commented on gene: TOP3A: 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: TOP3A; Suggested initial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? No; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Phenotypes: Microcephaly, growth restriction, and increased sister chromatid exchange 2; MGRISCE2 (Bloom-like syndrome) 618097; PMID(s): none submitted
Confirmed Fanconi anaemia or Bloom syndrome v0.20 SLX4 Louise Daugherty commented on gene: SLX4: 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: SLX4; Suggested initial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? No; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Phenotypes: Fanconi Anemia;Fanconi anemia, complementation group P, 613951; PMID(s): none submitted
Confirmed Fanconi anaemia or Bloom syndrome v0.20 RAD51C Louise Daugherty commented on gene: RAD51C: 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: RAD51C; Suggested initial gene rating: I don't know; Are variants in this gene part of your current diagnostic practice? No; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Phenotypes: Fanconi anemia, complementation group O 613390; PMID(s): none submitted
Confirmed Fanconi anaemia or Bloom syndrome v0.20 PALB2 Louise Daugherty commented on gene: PALB2: 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: PALB2; Suggested initial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? No; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Phenotypes: Fanconi anemia, complementation group N 610832; PMID(s): none submitted
Confirmed Fanconi anaemia or Bloom syndrome v0.20 MAD2L2 Louise Daugherty commented on gene: MAD2L2: 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: MAD2L2; Suggested initial gene rating: I don't know; Are variants in this gene part of your current diagnostic practice? No; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Phenotypes: 617243 ?Fanconi anemia, complementation group V; PMID(s): none submitted
Confirmed Fanconi anaemia or Bloom syndrome v0.20 FANCL Louise Daugherty commented on gene: FANCL: 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: FANCL; Suggested initial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? No; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Phenotypes: Fanconi Anemia;Fanconi anemia, complementation group L, 614083; PMID(s): 12973351;19405097;12724401;25754594;16474160
Confirmed Fanconi anaemia or Bloom syndrome v0.20 FANCI Louise Daugherty commented on gene: FANCI: 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: FANCI; Suggested initial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? No; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Phenotypes: Fanconi Anemia;Fanconi anemia, complementation group I, 609053; PMID(s): none submitted
Confirmed Fanconi anaemia or Bloom syndrome v0.20 FANCG Louise Daugherty commented on gene: FANCG: 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: FANCG; Suggested initial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? No; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Phenotypes: Fanconi Anemia;Fanconi anemia, complementation group G, 614082; PMID(s): none submitted
Confirmed Fanconi anaemia or Bloom syndrome v0.20 FANCF Louise Daugherty commented on gene: FANCF: 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: FANCF; Suggested initial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? No; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Phenotypes: Fanconi Anemia;Fanconi anemia, complementation group F, 603467; PMID(s): none submitted
Confirmed Fanconi anaemia or Bloom syndrome v0.20 FANCE Louise Daugherty commented on gene: FANCE: 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: FANCE; Suggested initial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? No; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Phenotypes: Fanconi Anemia;Fanconi anemia, complementation group E, 600901; PMID(s): none submitted
Confirmed Fanconi anaemia or Bloom syndrome v0.20 FANCD2 Louise Daugherty commented on gene: FANCD2: 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: FANCD2; Suggested initial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? No; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Phenotypes: Fanconi Anemia;Fanconi anemia, complementation group D2, 227646; PMID(s): none submitted
Confirmed Fanconi anaemia or Bloom syndrome v0.20 FANCC Louise Daugherty commented on gene: FANCC: 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: FANCC; Suggested initial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? No; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Phenotypes: Fanconi Anemia;Fanconi anemia, complementation group C, 227645; PMID(s): none submitted
Confirmed Fanconi anaemia or Bloom syndrome v0.20 FANCB Louise Daugherty commented on gene: FANCB: 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: FANCB; Suggested initial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? No; Mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males); Phenotypes: Falcon anemia; Fanconi anemia, complementation group B, 300514; Fanconi Anemia, X-Linked; Fanconi Anemia Type B; Fanconi Anaemia; PMID(s): none submitted
Confirmed Fanconi anaemia or Bloom syndrome v0.20 FANCA Louise Daugherty commented on gene: FANCA: 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: FANCA; Suggested initial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? No; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Phenotypes: Fanconi anemia, complementation group A, 227650;Fanconi anemia; PMID(s): none submitted
Confirmed Fanconi anaemia or Bloom syndrome v0.20 ERCC4 Louise Daugherty commented on gene: ERCC4: 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: ERCC4; Suggested initial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? No; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Phenotypes: Fanconi anemia, complementation group Q, 615272; PMID(s): none submitted
Confirmed Fanconi anaemia or Bloom syndrome v0.20 BRIP1 Louise Daugherty commented on gene: BRIP1: 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: BRIP1; Suggested initial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? No; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Phenotypes: Fanconi anemia, complementation group J 609054; PMID(s): none submitted
Confirmed Fanconi anaemia or Bloom syndrome v0.20 BRCA2 Louise Daugherty commented on gene: BRCA2: 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: BRCA2; Suggested initial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? No; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Phenotypes: Fanconi anemia, complementation group D1 605724; PMID(s): none submitted
Confirmed Fanconi anaemia or Bloom syndrome v0.20 BRCA1 Louise Daugherty commented on gene: BRCA1: 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: BRCA1; Suggested initial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? No; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Phenotypes: Fanconi anemia; PMID(s): none submitted
Confirmed Fanconi anaemia or Bloom syndrome v0.20 BLM Louise Daugherty commented on gene: BLM: 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: BLM; Suggested initial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? No; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Phenotypes: Bloom syndrome 210900; PMID(s): none submitted
Confirmed Fanconi anaemia or Bloom syndrome v0.19 UBE2T Steve Keeney reviewed gene: UBE2T: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Fanconi anemia, complementation group T, 616435; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Confirmed Fanconi anaemia or Bloom syndrome v0.19 TOP3A Steve Keeney reviewed gene: TOP3A: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Microcephaly, growth restriction, and increased sister chromatid exchange 2, MGRISCE2 (Bloom-like syndrome) 618097; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Confirmed Fanconi anaemia or Bloom syndrome v0.19 SLX4 Steve Keeney reviewed gene: SLX4: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Fanconi Anemia, Fanconi anemia, complementation group P, 613951; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Confirmed Fanconi anaemia or Bloom syndrome v0.19 RAD51C Steve Keeney reviewed gene: RAD51C: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: Fanconi anemia, complementation group O, 613390; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Confirmed Fanconi anaemia or Bloom syndrome v0.19 PALB2 Steve Keeney reviewed gene: PALB2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Fanconi anemia, complementation group N, 610832; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Confirmed Fanconi anaemia or Bloom syndrome v0.19 MAD2L2 Steve Keeney reviewed gene: MAD2L2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ?Fanconi anemia, complementation group V, 617243; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Confirmed Fanconi anaemia or Bloom syndrome v0.19 FANCL Steve Keeney reviewed gene: FANCL: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Fanconi Anemia, Fanconi anemia, complementation group L, 614083; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Confirmed Fanconi anaemia or Bloom syndrome v0.19 FANCI Steve Keeney reviewed gene: FANCI: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Fanconi Anemia, Fanconi anemia, complementation group I, 609053; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Confirmed Fanconi anaemia or Bloom syndrome v0.19 FANCG Steve Keeney reviewed gene: FANCG: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Fanconi Anemia, Fanconi anemia, complementation group G, 614082; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Confirmed Fanconi anaemia or Bloom syndrome v0.19 FANCF Steve Keeney reviewed gene: FANCF: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Fanconi Anemia, Fanconi anemia, complementation group F, 603467; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Confirmed Fanconi anaemia or Bloom syndrome v0.19 FANCE Steve Keeney reviewed gene: FANCE: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Fanconi Anemia, Fanconi anemia, complementation group E, 600901; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Confirmed Fanconi anaemia or Bloom syndrome v0.19 FANCD2 Steve Keeney reviewed gene: FANCD2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Fanconi Anemia, Fanconi anemia, complementation group D2, 227646; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Confirmed Fanconi anaemia or Bloom syndrome v0.19 FANCC Steve Keeney reviewed gene: FANCC: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Fanconi Anemia, Fanconi anemia, complementation group C, 227645; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Confirmed Fanconi anaemia or Bloom syndrome v0.19 FANCB Steve Keeney reviewed gene: FANCB: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Fanconi anemia, complementation group B, 300514, Fanconi Anemia, X-Linked, Fanconi Anemia Type B, Fanconi Anaemia; Mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Confirmed Fanconi anaemia or Bloom syndrome v0.19 FANCA Steve Keeney reviewed gene: FANCA: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Fanconi anemia, complementation group A, 227650, Fanconi anemia; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Confirmed Fanconi anaemia or Bloom syndrome v0.19 ERCC4 Steve Keeney reviewed gene: ERCC4: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Fanconi anemia, complementation group Q, 615272; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Confirmed Fanconi anaemia or Bloom syndrome v0.19 BRIP1 Steve Keeney reviewed gene: BRIP1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Fanconi anemia, complementation group J, 609054; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Confirmed Fanconi anaemia or Bloom syndrome v0.19 BRCA2 Steve Keeney reviewed gene: BRCA2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Fanconi anemia, complementation group D1, 605724; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Confirmed Fanconi anaemia or Bloom syndrome v0.19 BRCA1 Steve Keeney reviewed gene: BRCA1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Fanconi anemia; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Confirmed Fanconi anaemia or Bloom syndrome v0.19 BLM Steve Keeney reviewed gene: BLM: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Bloom syndrome, 210900; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Confirmed Fanconi anaemia or Bloom syndrome v0.18 UBE2T Louise Daugherty Added phenotypes Fanconi anemia, complementation group T, 616435 for gene: UBE2T
Confirmed Fanconi anaemia or Bloom syndrome v0.18 TOP3A Louise Daugherty Added phenotypes MGRISCE2 (Bloom-like syndrome) 618097; Microcephaly, growth restriction, and increased sister chromatid exchange 2 for gene: TOP3A
Confirmed Fanconi anaemia or Bloom syndrome v0.18 SLX4 Louise Daugherty Added phenotypes Fanconi Anemia; Fanconi anemia, complementation group P, 613951 for gene: SLX4
Confirmed Fanconi anaemia or Bloom syndrome v0.18 RAD51C Louise Daugherty Added phenotypes Fanconi anemia, complementation group O, 613390 for gene: RAD51C
Confirmed Fanconi anaemia or Bloom syndrome v0.18 PALB2 Louise Daugherty Added phenotypes Fanconi anemia, complementation group N, 610832 for gene: PALB2
Confirmed Fanconi anaemia or Bloom syndrome v0.18 MAD2L2 Louise Daugherty Added phenotypes ?Fanconi anemia, complementation group V, 617243 for gene: MAD2L2
Confirmed Fanconi anaemia or Bloom syndrome v0.18 FANCL Louise Daugherty Added phenotypes Fanconi Anemia; Fanconi anemia, complementation group L, 614083 for gene: FANCL
Confirmed Fanconi anaemia or Bloom syndrome v0.18 FANCI Louise Daugherty Added phenotypes Fanconi anemia, complementation group I, 609053; Fanconi Anemia for gene: FANCI
Confirmed Fanconi anaemia or Bloom syndrome v0.18 FANCG Louise Daugherty Added phenotypes Fanconi Anemia; Fanconi anemia, complementation group G, 614082 for gene: FANCG
Confirmed Fanconi anaemia or Bloom syndrome v0.18 FANCF Louise Daugherty Added phenotypes Fanconi Anemia; Fanconi anemia, complementation group F, 603467 for gene: FANCF
Confirmed Fanconi anaemia or Bloom syndrome v0.18 FANCE Louise Daugherty Added phenotypes Fanconi Anemia; Fanconi anemia, complementation group E, 600901 for gene: FANCE
Confirmed Fanconi anaemia or Bloom syndrome v0.18 FANCD2 Louise Daugherty Added phenotypes Fanconi Anemia; Fanconi anemia, complementation group D2, 227646 for gene: FANCD2
Confirmed Fanconi anaemia or Bloom syndrome v0.18 FANCC Louise Daugherty Added phenotypes Fanconi Anemia; Fanconi anemia, complementation group C, 227645 for gene: FANCC
Confirmed Fanconi anaemia or Bloom syndrome v0.18 FANCB Louise Daugherty Added phenotypes Fanconi Anaemia; Fanconi anemia, complementation group B, 300514; Fanconi Anemia, X-Linked; Fanconi Anemia Type B for gene: FANCB
Confirmed Fanconi anaemia or Bloom syndrome v0.18 FANCA Louise Daugherty Added phenotypes Fanconi anemia, complementation group A, 227650; Fanconi anemia for gene: FANCA
Confirmed Fanconi anaemia or Bloom syndrome v0.18 ERCC4 Louise Daugherty Added phenotypes Fanconi anemia, complementation group Q, 615272 for gene: ERCC4
Confirmed Fanconi anaemia or Bloom syndrome v0.18 BRIP1 Louise Daugherty Added phenotypes Fanconi anemia, complementation group J, 609054 for gene: BRIP1
Confirmed Fanconi anaemia or Bloom syndrome v0.18 BRCA2 Louise Daugherty Added phenotypes Fanconi anemia, complementation group D1, 605724 for gene: BRCA2
Confirmed Fanconi anaemia or Bloom syndrome v0.18 BRCA1 Louise Daugherty Added phenotypes Fanconi anemia for gene: BRCA1
Confirmed Fanconi anaemia or Bloom syndrome v0.18 BLM Louise Daugherty Added phenotypes Bloom syndrome, 210900 for gene: BLM
Confirmed Fanconi anaemia or Bloom syndrome v0.16 UBE2T Louise Daugherty Source North West GLH was added to UBE2T.
Confirmed Fanconi anaemia or Bloom syndrome v0.16 TOP3A Louise Daugherty Source North West GLH was added to TOP3A.
Confirmed Fanconi anaemia or Bloom syndrome v0.16 SLX4 Louise Daugherty Source North West GLH was added to SLX4.
Confirmed Fanconi anaemia or Bloom syndrome v0.16 RAD51C Louise Daugherty Source North West GLH was added to RAD51C.
Confirmed Fanconi anaemia or Bloom syndrome v0.16 PALB2 Louise Daugherty Source North West GLH was added to PALB2.
Confirmed Fanconi anaemia or Bloom syndrome v0.16 MAD2L2 Louise Daugherty Source North West GLH was added to MAD2L2.
Confirmed Fanconi anaemia or Bloom syndrome v0.16 FANCL Louise Daugherty Source North West GLH was added to FANCL.
Confirmed Fanconi anaemia or Bloom syndrome v0.16 FANCI Louise Daugherty Source North West GLH was added to FANCI.
Confirmed Fanconi anaemia or Bloom syndrome v0.16 FANCG Louise Daugherty Source North West GLH was added to FANCG.
Confirmed Fanconi anaemia or Bloom syndrome v0.16 FANCF Louise Daugherty Source North West GLH was added to FANCF.
Confirmed Fanconi anaemia or Bloom syndrome v0.16 FANCE Louise Daugherty Source North West GLH was added to FANCE.
Confirmed Fanconi anaemia or Bloom syndrome v0.16 FANCD2 Louise Daugherty Source North West GLH was added to FANCD2.
Confirmed Fanconi anaemia or Bloom syndrome v0.16 FANCC Louise Daugherty Source North West GLH was added to FANCC.
Confirmed Fanconi anaemia or Bloom syndrome v0.16 FANCB Louise Daugherty Source North West GLH was added to FANCB.
Confirmed Fanconi anaemia or Bloom syndrome v0.16 FANCA Louise Daugherty Source North West GLH was added to FANCA.
Confirmed Fanconi anaemia or Bloom syndrome v0.16 ERCC4 Louise Daugherty Source North West GLH was added to ERCC4.
Confirmed Fanconi anaemia or Bloom syndrome v0.16 BRIP1 Louise Daugherty Source North West GLH was added to BRIP1.
Confirmed Fanconi anaemia or Bloom syndrome v0.16 BRCA2 Louise Daugherty Source North West GLH was added to BRCA2.
Confirmed Fanconi anaemia or Bloom syndrome v0.16 BRCA1 Louise Daugherty Source North West GLH was added to BRCA1.
Confirmed Fanconi anaemia or Bloom syndrome v0.16 BLM Louise Daugherty Source North West GLH was added to BLM.
Confirmed Fanconi anaemia or Bloom syndrome v0.15 XRCC2 Louise Daugherty Mode of inheritance for gene: XRCC2 was changed from to BIALLELIC, autosomal or pseudoautosomal
Confirmed Fanconi anaemia or Bloom syndrome v0.14 XRCC2 Louise Daugherty Classified gene: XRCC2 as Amber List (moderate evidence)
Confirmed Fanconi anaemia or Bloom syndrome v0.14 XRCC2 Louise Daugherty Gene: xrcc2 has been classified as Amber List (Moderate Evidence).
Confirmed Fanconi anaemia or Bloom syndrome v0.13 MAD2L2 Louise Daugherty Mode of inheritance for gene: MAD2L2 was changed from to BIALLELIC, autosomal or pseudoautosomal
Confirmed Fanconi anaemia or Bloom syndrome v0.12 MAD2L2 Louise Daugherty Classified gene: MAD2L2 as Amber List (moderate evidence)
Confirmed Fanconi anaemia or Bloom syndrome v0.12 MAD2L2 Louise Daugherty Gene: mad2l2 has been classified as Amber List (Moderate Evidence).
Confirmed Fanconi anaemia or Bloom syndrome v0.11 XRCC2 Louise Daugherty reviewed gene: XRCC2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Confirmed Fanconi anaemia or Bloom syndrome v0.11 UBE2T Louise Daugherty commented on gene: UBE2T: 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: UBE2T; Suggested intial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? No; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Phenotypes: 616435 Falcon anemia Fanconi anemia, complementation group T; PMID(s): none submitted
Confirmed Fanconi anaemia or Bloom syndrome v0.11 TOP3A Louise Daugherty commented on gene: TOP3A: 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: TOP3A; Suggested intial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? No; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Phenotypes: 618097 MGRISCE2 (Bloom-like syndrome); PMID(s): none submitted
Confirmed Fanconi anaemia or Bloom syndrome v0.11 SLX4 Louise Daugherty commented on gene: SLX4: 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: SLX4; Suggested intial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? Yes; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Phenotypes: 613951 Fanconi Anemia Fanconi anemia, complementation group P; PMID(s): none submitted
Confirmed Fanconi anaemia or Bloom syndrome v0.11 RAD51C Louise Daugherty commented on gene: RAD51C: 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: RAD51C; Suggested intial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? Yes; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Phenotypes: 613390 Fanconi anemia, complementation group O; PMID(s): none submitted
Confirmed Fanconi anaemia or Bloom syndrome v0.11 PALB2 Louise Daugherty commented on gene: PALB2: 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: PALB2; Suggested intial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? Yes; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Phenotypes: 610832 Fanconi anemia, complementation group N; PMID(s): none submitted
Confirmed Fanconi anaemia or Bloom syndrome v0.11 MAD2L2 Louise Daugherty reviewed gene: MAD2L2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Confirmed Fanconi anaemia or Bloom syndrome v0.11 FANCM Louise Daugherty commented on gene: FANCM: 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: FANCM; Suggested intial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? Yes; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Phenotypes: 614087Fanconi anemia, complementation group M; PMID(s): none submitted
Confirmed Fanconi anaemia or Bloom syndrome v0.11 FANCL Louise Daugherty commented on gene: FANCL: 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: FANCL; Suggested intial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? Yes; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Phenotypes: 614083Fanconi anemia, complementation group L; PMID(s): none submitted
Confirmed Fanconi anaemia or Bloom syndrome v0.11 FANCI Louise Daugherty commented on gene: FANCI: 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: FANCI; Suggested intial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? Yes; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Phenotypes: 609053 Fanconi anemia, complementation group I; PMID(s): none submitted
Confirmed Fanconi anaemia or Bloom syndrome v0.11 FANCG Louise Daugherty commented on gene: FANCG: 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: FANCG; Suggested intial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? Yes; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Phenotypes: 614082 Fanconi anemia, complementation group G; PMID(s): none submitted
Confirmed Fanconi anaemia or Bloom syndrome v0.11 FANCF Louise Daugherty commented on gene: FANCF: 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: FANCF; Suggested intial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? Yes; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Phenotypes: 603467 Fanconi anemia, complementation group F; PMID(s): none submitted
Confirmed Fanconi anaemia or Bloom syndrome v0.11 FANCE Louise Daugherty commented on gene: FANCE: 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: FANCE; Suggested intial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? Yes; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Phenotypes: 600901 Fanconi anemia, complementation group E; PMID(s): none submitted
Confirmed Fanconi anaemia or Bloom syndrome v0.11 FANCD2 Louise Daugherty commented on gene: FANCD2: 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: FANCD2; Suggested intial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? Yes; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Phenotypes: 227646 Fanconi anemia, complementation group D2; PMID(s): none submitted
Confirmed Fanconi anaemia or Bloom syndrome v0.11 FANCC Louise Daugherty commented on gene: FANCC: 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: FANCC; Suggested intial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? Yes; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Phenotypes: 227645 Fanconi anemia, complementation group C; PMID(s): none submitted
Confirmed Fanconi anaemia or Bloom syndrome v0.11 FANCB Louise Daugherty commented on gene: FANCB: 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: FANCB; Suggested intial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? Yes; Mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males); Phenotypes: 300514 Falcon anemia Fanconi anemia, complementation group B; PMID(s): none submitted
Confirmed Fanconi anaemia or Bloom syndrome v0.11 FANCA Louise Daugherty commented on gene: FANCA: 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: FANCA; Suggested intial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? Yes; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Phenotypes: 227650 Fanconi anemia complementation group A; PMID(s): none submitted
Confirmed Fanconi anaemia or Bloom syndrome v0.11 ERCC4 Louise Daugherty commented on gene: ERCC4: 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: ERCC4; Suggested intial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? Yes; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Phenotypes: 615272 Fanconi anemia, complementation group Q; PMID(s): none submitted
Confirmed Fanconi anaemia or Bloom syndrome v0.11 BRIP1 Louise Daugherty commented on gene: BRIP1: 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: BRIP1; Suggested intial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? Yes; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Phenotypes: 609054 Fanconi anemia, complementation group J; PMID(s): none submitted
Confirmed Fanconi anaemia or Bloom syndrome v0.11 BRCA2 Louise Daugherty commented on gene: BRCA2: 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: BRCA2; Suggested intial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? Yes; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Phenotypes: 605724 Fanconi anemia, complementation group D1; PMID(s): none submitted
Confirmed Fanconi anaemia or Bloom syndrome v0.11 BRCA1 Louise Daugherty commented on gene: BRCA1: 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: BRCA1; Suggested intial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? Yes; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Phenotypes: 617883 Fanconi anemia, complementation group S; PMID(s): none submitted
Confirmed Fanconi anaemia or Bloom syndrome v0.11 BLM Louise Daugherty commented on gene: BLM: 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: BLM; Suggested intial gene rating: Green List (high evidence); Are variants in this gene part of your current diagnostic practice? No; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Phenotypes: 210900 Bloom syndrome; PMID(s): none submitted
Confirmed Fanconi anaemia or Bloom syndrome v0.10 XRCC2 Mandy nesbitt reviewed gene: XRCC2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: 617247 ?Fanconi anemia, complementation group U; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Confirmed Fanconi anaemia or Bloom syndrome v0.10 UBE2T Mandy nesbitt reviewed gene: UBE2T: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: 616435 Fanconi anemia, complementation group T; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Confirmed Fanconi anaemia or Bloom syndrome v0.10 TOP3A Mandy nesbitt reviewed gene: TOP3A: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: 618097 MGRISCE2 (Bloom-like syndrome); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Confirmed Fanconi anaemia or Bloom syndrome v0.10 SLX4 Mandy nesbitt reviewed gene: SLX4: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: 613951 Fanconi Anemia Fanconi anemia, complementation group P; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Confirmed Fanconi anaemia or Bloom syndrome v0.10 RAD51C Mandy nesbitt reviewed gene: RAD51C: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: 613390 Fanconi anemia, complementation group O; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Confirmed Fanconi anaemia or Bloom syndrome v0.10 PALB2 Mandy nesbitt reviewed gene: PALB2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: 610832 Fanconi anemia, complementation group N; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Confirmed Fanconi anaemia or Bloom syndrome v0.10 MAD2L2 Mandy nesbitt reviewed gene: MAD2L2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: 617243 ?Fanconi anemia, complementation group V; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Confirmed Fanconi anaemia or Bloom syndrome v0.10 FANCM Mandy nesbitt reviewed gene: FANCM: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: 614087Fanconi anemia, complementation group M; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Confirmed Fanconi anaemia or Bloom syndrome v0.10 FANCL Mandy nesbitt reviewed gene: FANCL: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: 614083Fanconi anemia, complementation group L; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Confirmed Fanconi anaemia or Bloom syndrome v0.10 FANCI Mandy nesbitt reviewed gene: FANCI: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: 609053 Fanconi anemia, complementation group I; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Confirmed Fanconi anaemia or Bloom syndrome v0.10 FANCG Mandy nesbitt reviewed gene: FANCG: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: 614082 Fanconi anemia, complementation group G; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Confirmed Fanconi anaemia or Bloom syndrome v0.10 FANCF Mandy nesbitt reviewed gene: FANCF: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: 603467 Fanconi anemia, complementation group F; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Confirmed Fanconi anaemia or Bloom syndrome v0.10 FANCE Mandy nesbitt reviewed gene: FANCE: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: 600901 Fanconi anemia, complementation group E; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Confirmed Fanconi anaemia or Bloom syndrome v0.10 FANCD2 Mandy nesbitt reviewed gene: FANCD2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: 227646 Fanconi anemia, complementation group D2; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Confirmed Fanconi anaemia or Bloom syndrome v0.10 FANCC Mandy nesbitt reviewed gene: FANCC: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: 227645 Fanconi anemia, complementation group C; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Confirmed Fanconi anaemia or Bloom syndrome v0.10 FANCB Mandy nesbitt reviewed gene: FANCB: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: 300514 Fanconi anemia, complementation group B; Mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males); Current diagnostic: yes
Confirmed Fanconi anaemia or Bloom syndrome v0.10 FANCA Mandy nesbitt reviewed gene: FANCA: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: 227650 Fanconi anemia complementation group A; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Confirmed Fanconi anaemia or Bloom syndrome v0.10 ERCC4 Mandy nesbitt reviewed gene: ERCC4: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: 615272 Fanconi anemia, complementation group Q; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Confirmed Fanconi anaemia or Bloom syndrome v0.10 BRIP1 Mandy nesbitt reviewed gene: BRIP1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: 609054 Fanconi anemia, complementation group J; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Confirmed Fanconi anaemia or Bloom syndrome v0.10 BRCA2 Mandy nesbitt reviewed gene: BRCA2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: 605724 Fanconi anemia, complementation group D1; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Confirmed Fanconi anaemia or Bloom syndrome v0.10 BRCA1 Mandy nesbitt reviewed gene: BRCA1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: 617883 Fanconi anemia, complementation group S; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Confirmed Fanconi anaemia or Bloom syndrome v0.10 BLM Mandy nesbitt reviewed gene: BLM: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: 210900 Bloom syndrome; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Confirmed Fanconi anaemia or Bloom syndrome v0.9 XRCC2 Louise Daugherty Added phenotypes 617247 ?Fanconi anemia, complementation group U for gene: XRCC2
Confirmed Fanconi anaemia or Bloom syndrome v0.9 UBE2T Louise Daugherty Added phenotypes 616435 Fanconi anemia, complementation group T for gene: UBE2T
Confirmed Fanconi anaemia or Bloom syndrome v0.9 TOP3A Louise Daugherty Added phenotypes 618097 MGRISCE2 (Bloom-like syndrome) for gene: TOP3A
Confirmed Fanconi anaemia or Bloom syndrome v0.9 SLX4 Louise Daugherty Added phenotypes 613951 Fanconi Anemia Fanconi anemia, complementation group P for gene: SLX4
Confirmed Fanconi anaemia or Bloom syndrome v0.9 RAD51C Louise Daugherty Added phenotypes 613390 Fanconi anemia, complementation group O for gene: RAD51C
Confirmed Fanconi anaemia or Bloom syndrome v0.9 PALB2 Louise Daugherty Added phenotypes 610832 Fanconi anemia, complementation group N for gene: PALB2
Confirmed Fanconi anaemia or Bloom syndrome v0.9 MAD2L2 Louise Daugherty Added phenotypes 617243 ?Fanconi anemia, complementation group V for gene: MAD2L2
Confirmed Fanconi anaemia or Bloom syndrome v0.9 FANCM Louise Daugherty Added phenotypes 614087Fanconi anemia, complementation group M for gene: FANCM
Confirmed Fanconi anaemia or Bloom syndrome v0.9 FANCL Louise Daugherty Added phenotypes 614083Fanconi anemia, complementation group L for gene: FANCL
Confirmed Fanconi anaemia or Bloom syndrome v0.9 FANCI Louise Daugherty Added phenotypes 609053 Fanconi anemia, complementation group I for gene: FANCI
Confirmed Fanconi anaemia or Bloom syndrome v0.9 FANCG Louise Daugherty Added phenotypes 614082 Fanconi anemia, complementation group G for gene: FANCG
Confirmed Fanconi anaemia or Bloom syndrome v0.9 FANCF Louise Daugherty Added phenotypes 603467 Fanconi anemia, complementation group F for gene: FANCF
Confirmed Fanconi anaemia or Bloom syndrome v0.9 FANCE Louise Daugherty Added phenotypes 600901 Fanconi anemia, complementation group E for gene: FANCE
Confirmed Fanconi anaemia or Bloom syndrome v0.9 FANCD2 Louise Daugherty Added phenotypes 227646 Fanconi anemia, complementation group D2 for gene: FANCD2
Confirmed Fanconi anaemia or Bloom syndrome v0.9 FANCC Louise Daugherty Added phenotypes 227645 Fanconi anemia, complementation group C for gene: FANCC
Confirmed Fanconi anaemia or Bloom syndrome v0.9 FANCB Louise Daugherty Added phenotypes 300514 Fanconi anemia, complementation group B for gene: FANCB
Confirmed Fanconi anaemia or Bloom syndrome v0.9 FANCA Louise Daugherty Added phenotypes 227650 Fanconi anemia complementation group A for gene: FANCA
Confirmed Fanconi anaemia or Bloom syndrome v0.9 ERCC4 Louise Daugherty Added phenotypes 615272 Fanconi anemia, complementation group Q for gene: ERCC4
Confirmed Fanconi anaemia or Bloom syndrome v0.9 BRIP1 Louise Daugherty Added phenotypes 609054 Fanconi anemia, complementation group J for gene: BRIP1
Confirmed Fanconi anaemia or Bloom syndrome v0.9 BRCA2 Louise Daugherty Added phenotypes 605724 Fanconi anemia, complementation group D1 for gene: BRCA2
Confirmed Fanconi anaemia or Bloom syndrome v0.9 BRCA1 Louise Daugherty Added phenotypes 617883 Fanconi anemia, complementation group S for gene: BRCA1
Confirmed Fanconi anaemia or Bloom syndrome v0.9 BLM Louise Daugherty Added phenotypes 210900 Bloom syndrome for gene: BLM
Confirmed Fanconi anaemia or Bloom syndrome v0.8 XRCC2 Louise Daugherty Source NHS GMS was added to XRCC2.
Confirmed Fanconi anaemia or Bloom syndrome v0.8 MAD2L2 Louise Daugherty Source NHS GMS was added to MAD2L2.
Confirmed Fanconi anaemia or Bloom syndrome v0.7 XRCC2 Louise Daugherty gene: XRCC2 was added
gene: XRCC2 was added to Confirmed Fanconi anaemia or Bloom syndrome. Sources: Yorkshire and North East GLH
Mode of inheritance for gene: XRCC2 was set to
Confirmed Fanconi anaemia or Bloom syndrome v0.7 UBE2T Louise Daugherty Source Yorkshire and North East GLH was added to UBE2T.
Confirmed Fanconi anaemia or Bloom syndrome v0.7 TOP3A Louise Daugherty Source Yorkshire and North East GLH was added to TOP3A.
Confirmed Fanconi anaemia or Bloom syndrome v0.7 SLX4 Louise Daugherty Source Yorkshire and North East GLH was added to SLX4.
Confirmed Fanconi anaemia or Bloom syndrome v0.7 RAD51C Louise Daugherty Source Yorkshire and North East GLH was added to RAD51C.
Confirmed Fanconi anaemia or Bloom syndrome v0.7 PALB2 Louise Daugherty Source Yorkshire and North East GLH was added to PALB2.
Confirmed Fanconi anaemia or Bloom syndrome v0.7 MAD2L2 Louise Daugherty gene: MAD2L2 was added
gene: MAD2L2 was added to Confirmed Fanconi anaemia or Bloom syndrome. Sources: Yorkshire and North East GLH
Mode of inheritance for gene: MAD2L2 was set to
Confirmed Fanconi anaemia or Bloom syndrome v0.7 FANCM Louise Daugherty Source Yorkshire and North East GLH was added to FANCM.
Confirmed Fanconi anaemia or Bloom syndrome v0.7 FANCL Louise Daugherty Source Yorkshire and North East GLH was added to FANCL.
Confirmed Fanconi anaemia or Bloom syndrome v0.7 FANCI Louise Daugherty Source Yorkshire and North East GLH was added to FANCI.
Confirmed Fanconi anaemia or Bloom syndrome v0.7 FANCG Louise Daugherty Source Yorkshire and North East GLH was added to FANCG.
Confirmed Fanconi anaemia or Bloom syndrome v0.7 FANCF Louise Daugherty Source Yorkshire and North East GLH was added to FANCF.
Confirmed Fanconi anaemia or Bloom syndrome v0.7 FANCE Louise Daugherty Source Yorkshire and North East GLH was added to FANCE.
Confirmed Fanconi anaemia or Bloom syndrome v0.7 FANCD2 Louise Daugherty Source Yorkshire and North East GLH was added to FANCD2.
Confirmed Fanconi anaemia or Bloom syndrome v0.7 FANCC Louise Daugherty Source Yorkshire and North East GLH was added to FANCC.
Confirmed Fanconi anaemia or Bloom syndrome v0.7 FANCB Louise Daugherty Source Yorkshire and North East GLH was added to FANCB.
Confirmed Fanconi anaemia or Bloom syndrome v0.7 FANCA Louise Daugherty Source Yorkshire and North East GLH was added to FANCA.
Confirmed Fanconi anaemia or Bloom syndrome v0.7 ERCC4 Louise Daugherty Source Yorkshire and North East GLH was added to ERCC4.
Confirmed Fanconi anaemia or Bloom syndrome v0.7 BRIP1 Louise Daugherty Source Yorkshire and North East GLH was added to BRIP1.
Confirmed Fanconi anaemia or Bloom syndrome v0.7 BRCA2 Louise Daugherty Source Yorkshire and North East GLH was added to BRCA2.
Confirmed Fanconi anaemia or Bloom syndrome v0.7 BRCA1 Louise Daugherty Source Yorkshire and North East GLH was added to BRCA1.
Confirmed Fanconi anaemia or Bloom syndrome v0.7 BLM Louise Daugherty Source Yorkshire and North East GLH was added to BLM.
Confirmed Fanconi anaemia or Bloom syndrome v0.6 UBE2T Louise Daugherty reviewed gene: UBE2T: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Confirmed Fanconi anaemia or Bloom syndrome v0.6 TOP3A Louise Daugherty reviewed gene: TOP3A: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Confirmed Fanconi anaemia or Bloom syndrome v0.6 SLX4 Louise Daugherty reviewed gene: SLX4: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Confirmed Fanconi anaemia or Bloom syndrome v0.6 RAD51C Louise Daugherty reviewed gene: RAD51C: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Confirmed Fanconi anaemia or Bloom syndrome v0.6 PALB2 Louise Daugherty reviewed gene: PALB2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Confirmed Fanconi anaemia or Bloom syndrome v0.6 FANCM Louise Daugherty reviewed gene: FANCM: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Confirmed Fanconi anaemia or Bloom syndrome v0.6 FANCL Louise Daugherty reviewed gene: FANCL: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Confirmed Fanconi anaemia or Bloom syndrome v0.6 FANCI Louise Daugherty reviewed gene: FANCI: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Confirmed Fanconi anaemia or Bloom syndrome v0.6 FANCG Louise Daugherty reviewed gene: FANCG: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Confirmed Fanconi anaemia or Bloom syndrome v0.6 FANCF Louise Daugherty reviewed gene: FANCF: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Confirmed Fanconi anaemia or Bloom syndrome v0.6 FANCE Louise Daugherty reviewed gene: FANCE: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Confirmed Fanconi anaemia or Bloom syndrome v0.6 FANCD2 Louise Daugherty reviewed gene: FANCD2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Confirmed Fanconi anaemia or Bloom syndrome v0.6 FANCC Louise Daugherty reviewed gene: FANCC: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Confirmed Fanconi anaemia or Bloom syndrome v0.6 FANCB Louise Daugherty reviewed gene: FANCB: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Confirmed Fanconi anaemia or Bloom syndrome v0.6 FANCA Louise Daugherty reviewed gene: FANCA: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Confirmed Fanconi anaemia or Bloom syndrome v0.6 ERCC4 Louise Daugherty reviewed gene: ERCC4: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Confirmed Fanconi anaemia or Bloom syndrome v0.6 BRIP1 Louise Daugherty reviewed gene: BRIP1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Confirmed Fanconi anaemia or Bloom syndrome v0.6 BRCA2 Louise Daugherty reviewed gene: BRCA2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Confirmed Fanconi anaemia or Bloom syndrome v0.6 BRCA1 Louise Daugherty reviewed gene: BRCA1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Confirmed Fanconi anaemia or Bloom syndrome v0.6 BLM Louise Daugherty reviewed gene: BLM: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Confirmed Fanconi anaemia or Bloom syndrome v0.5 UBE2T Carl Fratter reviewed gene: UBE2T: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Confirmed Fanconi anaemia or Bloom syndrome v0.5 TOP3A Carl Fratter reviewed gene: TOP3A: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Confirmed Fanconi anaemia or Bloom syndrome v0.5 SLX4 Carl Fratter reviewed gene: SLX4: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Confirmed Fanconi anaemia or Bloom syndrome v0.5 RAD51C Carl Fratter reviewed gene: RAD51C: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Confirmed Fanconi anaemia or Bloom syndrome v0.5 PALB2 Carl Fratter reviewed gene: PALB2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Confirmed Fanconi anaemia or Bloom syndrome v0.5 FANCM Carl Fratter reviewed gene: FANCM: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Confirmed Fanconi anaemia or Bloom syndrome v0.5 FANCL Carl Fratter reviewed gene: FANCL: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Confirmed Fanconi anaemia or Bloom syndrome v0.5 FANCI Carl Fratter reviewed gene: FANCI: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Confirmed Fanconi anaemia or Bloom syndrome v0.5 FANCG Carl Fratter reviewed gene: FANCG: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Confirmed Fanconi anaemia or Bloom syndrome v0.5 FANCF Carl Fratter reviewed gene: FANCF: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Confirmed Fanconi anaemia or Bloom syndrome v0.5 FANCE Carl Fratter reviewed gene: FANCE: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Confirmed Fanconi anaemia or Bloom syndrome v0.5 FANCD2 Carl Fratter reviewed gene: FANCD2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Confirmed Fanconi anaemia or Bloom syndrome v0.5 FANCC Carl Fratter reviewed gene: FANCC: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Confirmed Fanconi anaemia or Bloom syndrome v0.5 FANCB Carl Fratter reviewed gene: FANCB: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Confirmed Fanconi anaemia or Bloom syndrome v0.5 FANCA Carl Fratter reviewed gene: FANCA: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Confirmed Fanconi anaemia or Bloom syndrome v0.5 ERCC4 Carl Fratter reviewed gene: ERCC4: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Confirmed Fanconi anaemia or Bloom syndrome v0.5 BRIP1 Carl Fratter reviewed gene: BRIP1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Confirmed Fanconi anaemia or Bloom syndrome v0.5 BRCA2 Carl Fratter reviewed gene: BRCA2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Confirmed Fanconi anaemia or Bloom syndrome v0.5 BRCA1 Carl Fratter reviewed gene: BRCA1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Confirmed Fanconi anaemia or Bloom syndrome v0.5 BLM Carl Fratter reviewed gene: BLM: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Confirmed Fanconi anaemia or Bloom syndrome v0.4 UBE2T Louise Daugherty Source NHS GMS was added to UBE2T.
Confirmed Fanconi anaemia or Bloom syndrome v0.4 TOP3A Louise Daugherty Source NHS GMS was added to TOP3A.
Confirmed Fanconi anaemia or Bloom syndrome v0.4 SLX4 Louise Daugherty Source NHS GMS was added to SLX4.
Confirmed Fanconi anaemia or Bloom syndrome v0.4 RAD51C Louise Daugherty Source NHS GMS was added to RAD51C.
Confirmed Fanconi anaemia or Bloom syndrome v0.4 PALB2 Louise Daugherty Source NHS GMS was added to PALB2.
Confirmed Fanconi anaemia or Bloom syndrome v0.4 FANCM Louise Daugherty Source NHS GMS was added to FANCM.
Confirmed Fanconi anaemia or Bloom syndrome v0.4 FANCL Louise Daugherty Source NHS GMS was added to FANCL.
Confirmed Fanconi anaemia or Bloom syndrome v0.4 FANCI Louise Daugherty Source NHS GMS was added to FANCI.
Confirmed Fanconi anaemia or Bloom syndrome v0.4 FANCG Louise Daugherty Source NHS GMS was added to FANCG.
Confirmed Fanconi anaemia or Bloom syndrome v0.4 FANCF Louise Daugherty Source NHS GMS was added to FANCF.
Confirmed Fanconi anaemia or Bloom syndrome v0.4 FANCE Louise Daugherty Source NHS GMS was added to FANCE.
Confirmed Fanconi anaemia or Bloom syndrome v0.4 FANCD2 Louise Daugherty Source NHS GMS was added to FANCD2.
Confirmed Fanconi anaemia or Bloom syndrome v0.4 FANCC Louise Daugherty Source NHS GMS was added to FANCC.
Confirmed Fanconi anaemia or Bloom syndrome v0.4 FANCB Louise Daugherty Source NHS GMS was added to FANCB.
Confirmed Fanconi anaemia or Bloom syndrome v0.4 FANCA Louise Daugherty Source NHS GMS was added to FANCA.
Confirmed Fanconi anaemia or Bloom syndrome v0.4 ERCC4 Louise Daugherty Source NHS GMS was added to ERCC4.
Confirmed Fanconi anaemia or Bloom syndrome v0.4 BRIP1 Louise Daugherty Source NHS GMS was added to BRIP1.
Confirmed Fanconi anaemia or Bloom syndrome v0.4 BRCA2 Louise Daugherty Source NHS GMS was added to BRCA2.
Confirmed Fanconi anaemia or Bloom syndrome v0.4 BRCA1 Louise Daugherty Source NHS GMS was added to BRCA1.
Confirmed Fanconi anaemia or Bloom syndrome v0.4 BLM Louise Daugherty Source NHS GMS was added to BLM.
Confirmed Fanconi anaemia or Bloom syndrome v0.3 UBE2T Louise Daugherty Source Expert Review Green was added to UBE2T.
Mode of inheritance for gene UBE2T was changed from to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes Falcon anemia; Fanconi anemia, complementation group T, 616435 for gene: UBE2T
Publications for gene UBE2T were changed from to 26046368
Rating Changed from Red List (low evidence) to Green List (high evidence)
Confirmed Fanconi anaemia or Bloom syndrome v0.3 TOP3A Louise Daugherty Source Expert Review Green was added to TOP3A.
Mode of inheritance for gene TOP3A was changed from to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes MGRISCE2 (Bloom-like syndrome) 618097; Microcephaly, growth restriction, and increased sister chromatid exchange 2 for gene: TOP3A
Rating Changed from Red List (low evidence) to Green List (high evidence)
Confirmed Fanconi anaemia or Bloom syndrome v0.3 SLX4 Louise Daugherty Source Expert Review Green was added to SLX4.
Mode of inheritance for gene SLX4 was changed from to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes Fanconi Anemia; Fanconi anemia, complementation group P, 613951 for gene: SLX4
Publications for gene SLX4 were changed from to 21240275; 21240277
Rating Changed from Red List (low evidence) to Green List (high evidence)
Confirmed Fanconi anaemia or Bloom syndrome v0.3 RAD51C Louise Daugherty Source Expert Review Amber was added to RAD51C.
Mode of inheritance for gene RAD51C was changed from to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes Fanconi anemia, complementation group O, 613390 for gene: RAD51C
Publications for gene RAD51C were changed from to 20400963; 22232082
Rating Changed from Red List (low evidence) to Amber List (moderate evidence)
Confirmed Fanconi anaemia or Bloom syndrome v0.3 PALB2 Louise Daugherty Source Expert Review Green was added to PALB2.
Mode of inheritance for gene PALB2 was changed from to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes Fanconi anemia, complementation group N, 610832 for gene: PALB2
Publications for gene PALB2 were changed from to 17200672; 17200671
Rating Changed from Red List (low evidence) to Green List (high evidence)
Confirmed Fanconi anaemia or Bloom syndrome v0.3 FANCM Louise Daugherty Source Expert Review Red was added to FANCM.
Mode of inheritance for gene FANCM was changed from to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes Fanconi Anemia; Fanconi anemia, complementation group M, 614087 for gene: FANCM
Publications for gene FANCM were changed from to 19423727; 25078778; 16116422
Confirmed Fanconi anaemia or Bloom syndrome v0.3 FANCL Louise Daugherty Source Expert Review Green was added to FANCL.
Mode of inheritance for gene FANCL was changed from to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes Fanconi Anemia; Fanconi anemia, complementation group L, 614083 for gene: FANCL
Publications for gene FANCL were changed from to 16474160; 12724401; 25754594; 12973351; 19405097
Rating Changed from Red List (low evidence) to Green List (high evidence)
Confirmed Fanconi anaemia or Bloom syndrome v0.3 FANCI Louise Daugherty Source Expert Review Green was added to FANCI.
Mode of inheritance for gene FANCI was changed from to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes Fanconi anemia, complementation group I, 609053; Fanconi Anemia for gene: FANCI
Publications for gene FANCI were changed from to 17452773; 11239453
Rating Changed from Red List (low evidence) to Green List (high evidence)
Confirmed Fanconi anaemia or Bloom syndrome v0.3 FANCG Louise Daugherty Source Expert Review Green was added to FANCG.
Mode of inheritance for gene FANCG was changed from to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes Fanconi Anemia; Fanconi anemia, complementation group G, 614082 for gene: FANCG
Publications for gene FANCG were changed from to 9806548
Rating Changed from Red List (low evidence) to Green List (high evidence)
Confirmed Fanconi anaemia or Bloom syndrome v0.3 FANCF Louise Daugherty Source Expert Review Green was added to FANCF.
Mode of inheritance for gene FANCF was changed from to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes Fanconi Anemia; Fanconi anemia, complementation group F, 603467 for gene: FANCF
Publications for gene FANCF were changed from to 10615118
Rating Changed from Red List (low evidence) to Green List (high evidence)
Confirmed Fanconi anaemia or Bloom syndrome v0.3 FANCE Louise Daugherty Source Expert Review Green was added to FANCE.
Mode of inheritance for gene FANCE was changed from to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes Fanconi Anemia; Fanconi anemia, complementation group E, 600901 for gene: FANCE
Publications for gene FANCE were changed from to 9147877; 9382107; 10205272; 7662964
Rating Changed from Red List (low evidence) to Green List (high evidence)
Confirmed Fanconi anaemia or Bloom syndrome v0.3 FANCD2 Louise Daugherty Source Expert Review Green was added to FANCD2.
Mode of inheritance for gene FANCD2 was changed from to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes Fanconi Anemia; Fanconi anemia, complementation group D2, 227646 for gene: FANCD2
Publications for gene FANCD2 were changed from to 11239454
Rating Changed from Red List (low evidence) to Green List (high evidence)
Confirmed Fanconi anaemia or Bloom syndrome v0.3 FANCC Louise Daugherty Source Expert Review Green was added to FANCC.
Mode of inheritance for gene FANCC was changed from to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes Fanconi Anemia; Fanconi anemia, complementation group C, 227645 for gene: FANCC
Publications for gene FANCC were changed from to 1574115
Rating Changed from Red List (low evidence) to Green List (high evidence)
Confirmed Fanconi anaemia or Bloom syndrome v0.3 FANCB Louise Daugherty Source Expert Review Green was added to FANCB.
Mode of inheritance for gene FANCB was changed from to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Added phenotypes Fanconi Anaemia; Falcon anemia; Fanconi Anemia Type B; Fanconi anemia, complementation group B, 300514; Fanconi Anemia, X-Linked for gene: FANCB
Rating Changed from Red List (low evidence) to Green List (high evidence)
Confirmed Fanconi anaemia or Bloom syndrome v0.3 FANCA Louise Daugherty Source Expert Review Green was added to FANCA.
Mode of inheritance for gene FANCA was changed from to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes Fanconi anemia, complementation group A, 227650; Fanconi anemia for gene: FANCA
Publications for gene FANCA were changed from to 8896563
Rating Changed from Red List (low evidence) to Green List (high evidence)
Confirmed Fanconi anaemia or Bloom syndrome v0.3 ERCC4 Louise Daugherty Source Expert Review Green was added to ERCC4.
Mode of inheritance for gene ERCC4 was changed from to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes Fanconi anemia, complementation group Q, 615272 for gene: ERCC4
Publications for gene ERCC4 were changed from to 24027083; 23623386; 23623389
Rating Changed from Red List (low evidence) to Green List (high evidence)
Confirmed Fanconi anaemia or Bloom syndrome v0.3 BRIP1 Louise Daugherty Source Expert Review Green was added to BRIP1.
Mode of inheritance for gene BRIP1 was changed from to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes Fanconi anemia, complementation group J, 609054 for gene: BRIP1
Publications for gene BRIP1 were changed from to 16116424; 16153896; 14630800; 16116423
Rating Changed from Red List (low evidence) to Green List (high evidence)
Confirmed Fanconi anaemia or Bloom syndrome v0.3 BRCA2 Louise Daugherty Source Expert Review Green was added to BRCA2.
Mode of inheritance for gene BRCA2 was changed from to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes Fanconi anemia, complementation group D1, 605724 for gene: BRCA2
Publications for gene BRCA2 were changed from to 28185119; 14670928; 12065746; 11239453; 24395671
Rating Changed from Red List (low evidence) to Green List (high evidence)
Confirmed Fanconi anaemia or Bloom syndrome v0.3 BRCA1 Louise Daugherty Source Expert Review Amber was added to BRCA1.
Mode of inheritance for gene BRCA1 was changed from to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes Fanconi anemia for gene: BRCA1
Publications for gene BRCA1 were changed from to 25472942; 28122244; 26644450
Rating Changed from Red List (low evidence) to Amber List (moderate evidence)
Confirmed Fanconi anaemia or Bloom syndrome v0.3 BLM Louise Daugherty Source Expert Review Green was added to BLM.
Mode of inheritance for gene BLM was changed from to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes Bloom syndrome, 210900 for gene: BLM
Rating Changed from Red List (low evidence) to Green List (high evidence)
Confirmed Fanconi anaemia or Bloom syndrome v0.2 UBE2T Louise Daugherty gene: UBE2T was added
gene: UBE2T was added to Confirmed Fanconi anaemia or Bloom syndrome. Sources: Wessex and West Midlands GLH
Mode of inheritance for gene: UBE2T was set to
Confirmed Fanconi anaemia or Bloom syndrome v0.2 TOP3A Louise Daugherty gene: TOP3A was added
gene: TOP3A was added to Confirmed Fanconi anaemia or Bloom syndrome. Sources: Wessex and West Midlands GLH
Mode of inheritance for gene: TOP3A was set to
Confirmed Fanconi anaemia or Bloom syndrome v0.2 SLX4 Louise Daugherty gene: SLX4 was added
gene: SLX4 was added to Confirmed Fanconi anaemia or Bloom syndrome. Sources: Wessex and West Midlands GLH
Mode of inheritance for gene: SLX4 was set to
Confirmed Fanconi anaemia or Bloom syndrome v0.2 RAD51C Louise Daugherty gene: RAD51C was added
gene: RAD51C was added to Confirmed Fanconi anaemia or Bloom syndrome. Sources: Wessex and West Midlands GLH
Mode of inheritance for gene: RAD51C was set to
Confirmed Fanconi anaemia or Bloom syndrome v0.2 PALB2 Louise Daugherty gene: PALB2 was added
gene: PALB2 was added to Confirmed Fanconi anaemia or Bloom syndrome. Sources: Wessex and West Midlands GLH
Mode of inheritance for gene: PALB2 was set to
Confirmed Fanconi anaemia or Bloom syndrome v0.2 FANCM Louise Daugherty gene: FANCM was added
gene: FANCM was added to Confirmed Fanconi anaemia or Bloom syndrome. Sources: Wessex and West Midlands GLH
Mode of inheritance for gene: FANCM was set to
Confirmed Fanconi anaemia or Bloom syndrome v0.2 FANCL Louise Daugherty gene: FANCL was added
gene: FANCL was added to Confirmed Fanconi anaemia or Bloom syndrome. Sources: Wessex and West Midlands GLH
Mode of inheritance for gene: FANCL was set to
Confirmed Fanconi anaemia or Bloom syndrome v0.2 FANCI Louise Daugherty gene: FANCI was added
gene: FANCI was added to Confirmed Fanconi anaemia or Bloom syndrome. Sources: Wessex and West Midlands GLH
Mode of inheritance for gene: FANCI was set to
Confirmed Fanconi anaemia or Bloom syndrome v0.2 FANCG Louise Daugherty gene: FANCG was added
gene: FANCG was added to Confirmed Fanconi anaemia or Bloom syndrome. Sources: Wessex and West Midlands GLH
Mode of inheritance for gene: FANCG was set to
Confirmed Fanconi anaemia or Bloom syndrome v0.2 FANCF Louise Daugherty gene: FANCF was added
gene: FANCF was added to Confirmed Fanconi anaemia or Bloom syndrome. Sources: Wessex and West Midlands GLH
Mode of inheritance for gene: FANCF was set to
Confirmed Fanconi anaemia or Bloom syndrome v0.2 FANCE Louise Daugherty gene: FANCE was added
gene: FANCE was added to Confirmed Fanconi anaemia or Bloom syndrome. Sources: Wessex and West Midlands GLH
Mode of inheritance for gene: FANCE was set to
Confirmed Fanconi anaemia or Bloom syndrome v0.2 FANCD2 Louise Daugherty gene: FANCD2 was added
gene: FANCD2 was added to Confirmed Fanconi anaemia or Bloom syndrome. Sources: Wessex and West Midlands GLH
Mode of inheritance for gene: FANCD2 was set to
Confirmed Fanconi anaemia or Bloom syndrome v0.2 FANCC Louise Daugherty gene: FANCC was added
gene: FANCC was added to Confirmed Fanconi anaemia or Bloom syndrome. Sources: Wessex and West Midlands GLH
Mode of inheritance for gene: FANCC was set to
Confirmed Fanconi anaemia or Bloom syndrome v0.2 FANCB Louise Daugherty gene: FANCB was added
gene: FANCB was added to Confirmed Fanconi anaemia or Bloom syndrome. Sources: Wessex and West Midlands GLH
Mode of inheritance for gene: FANCB was set to
Confirmed Fanconi anaemia or Bloom syndrome v0.2 FANCA Louise Daugherty gene: FANCA was added
gene: FANCA was added to Confirmed Fanconi anaemia or Bloom syndrome. Sources: Wessex and West Midlands GLH
Mode of inheritance for gene: FANCA was set to
Confirmed Fanconi anaemia or Bloom syndrome v0.2 ERCC4 Louise Daugherty gene: ERCC4 was added
gene: ERCC4 was added to Confirmed Fanconi anaemia or Bloom syndrome. Sources: Wessex and West Midlands GLH
Mode of inheritance for gene: ERCC4 was set to
Confirmed Fanconi anaemia or Bloom syndrome v0.2 BRIP1 Louise Daugherty gene: BRIP1 was added
gene: BRIP1 was added to Confirmed Fanconi anaemia or Bloom syndrome. Sources: Wessex and West Midlands GLH
Mode of inheritance for gene: BRIP1 was set to
Confirmed Fanconi anaemia or Bloom syndrome v0.2 BRCA2 Louise Daugherty gene: BRCA2 was added
gene: BRCA2 was added to Confirmed Fanconi anaemia or Bloom syndrome. Sources: Wessex and West Midlands GLH
Mode of inheritance for gene: BRCA2 was set to
Confirmed Fanconi anaemia or Bloom syndrome v0.2 BRCA1 Louise Daugherty gene: BRCA1 was added
gene: BRCA1 was added to Confirmed Fanconi anaemia or Bloom syndrome. Sources: Wessex and West Midlands GLH
Mode of inheritance for gene: BRCA1 was set to
Confirmed Fanconi anaemia or Bloom syndrome v0.2 BLM Louise Daugherty gene: BLM was added
gene: BLM was added to Confirmed Fanconi anaemia or Bloom syndrome. Sources: Wessex and West Midlands GLH
Mode of inheritance for gene: BLM was set to
Confirmed Fanconi anaemia or Bloom syndrome v0.0 Ellen McDonagh Added Panel Confirmed Fanconi anaemia or Bloom syndrome
Set panel types to: GMS Rare Disease