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IBMDx study

Gene: FANCD2

Green List (high evidence)
FANCD2 (Fanconi anemia complementation group D2)
EnsemblGeneIds (GRCh38): ENSG00000144554
EnsemblGeneIds (GRCh37): ENSG00000144554
OMIM: 613984, Gene2Phenotype
FANCD2 is in 15 panels

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

Well established gene-disease association. Fanconi anaemia causes genomic instability and is characterised by multiple congenital anomalies including radial ray abnormalities and microcephaly, early-onset bone marrow failure, and a predisposition to cancer.
Created: 22 Apr 2021, 3:19 a.m. | Last Modified: 22 Apr 2021, 3:19 a.m.
Panel Version: 0.203

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Fanconi anaemia, complementation group D2, MIM# 227646; MONDO:0009214

Publications

Created: 22 Apr 2021, 3:19 a.m.
Last Modified: 22 Apr 2021, 3:19 a.m.
Panel version: Imported from Bone Marrow Failure panel version 0.203

History Filter Activity

10 Dec 2021, Gel status: 3

Created, Added New Source, Set mode of inheritance, Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: FANCD2 was added gene: FANCD2 was added to IBMDx study. Sources: IBMDx Study,Expert Review Green Mode of inheritance for gene: FANCD2 was set to Unknown Phenotypes for gene: FANCD2 were set to Fanconi anaemia, complementation group D2, MIM# 227646; MONDO:0009214