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  3. FANCD2
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Haematological malignancies cancer susceptibility

Gene: FANCD2

Green List (high evidence)
FANCD2 (Fanconi anemia complementation group D2)
EnsemblGeneIds (GRCh38): ENSG00000144554
EnsemblGeneIds (GRCh37): ENSG00000144554
OMIM: 613984, Gene2Phenotype
FANCD2 is in 21 panels

1 review

Clare Turnbull (Queen Mary University London)

Green List (high evidence)

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Created: 26 Jul 2017, 11:14 a.m.

Panel version: 0.8

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Curated sources
Phenotypes
  • Class: BM failure FA, (typ AR)
  • AML
  • leukaemia
  • Fanconi anaemia D2
  • MDS
  • AML, Acute myeloid leukaemia (AML)
  • Bone marrow failure
  • Head and neck and anogenital squamous cell cancers, liver cancer, esophageal cancer, Squamous cell carcinoma: oral, GI, vulvar
OMIM
613984
Clinvar variants
Variants in FANCD2
Penetrance
Complete
Publications
Panels with this gene

History Filter Activity

7 Sep 2018, Gel status: 4

Panel promoted to version 1.0

Louise Daugherty (Genomics England Curator)

Ellen McDonagh: Comment on mode of inheritance

30 Jan 2018, Gel status: 4

Added New Source

Ellen McDonagh (Genomics England Curator)

Expert Review Green was added to FANCD2. Panel: Haematological malignancies pertinent cancer susceptibility

21 Jun 2017, Gel status: 0

Added New Source

Ellen McDonagh (Genomics England Curator)

FANCD2 was added to Haematological malignanciespanel. Sources: Curated sources

21 Jun 2017, Gel status: 0

Created

Ellen McDonagh (Genomics England Curator)

FANCD2 was created by ellenmcdonagh