Radial Ray Abnormalities

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, 3:14 a.m. | Last Modified: 22 Apr 2021, 3:14 a.m.
Panel Version: 0.90

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Fanconi anaemia, complementation group D2, MIM# 227646

Publications

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
  • Victorian Clinical Genetics Services
Phenotypes
  • Fanconi anaemia, complementation group D2, MIM# 227646
  • MONDO:0009214
OMIM
613984
Clinvar variants
Variants in FANCD2
Penetrance
None
Publications
Panels with this gene

History Filter Activity

24 Apr 2021, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: fancd2 has been classified as Green List (High Evidence).

24 Apr 2021, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: FANCD2 were changed from Fanconi anaemia, complementation group D2, MIM# 227646 to Fanconi anaemia, complementation group D2, MIM# 227646; MONDO:0009214

24 Apr 2021, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: FANCD2 were changed from to Fanconi anaemia, complementation group D2, MIM# 227646

24 Apr 2021, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: FANCD2 were set to

24 Apr 2021, Gel status: 3

Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Mode of inheritance for gene: FANCD2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal

17 Nov 2019, Gel status: 3

Created, Added New Source, Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: FANCD2 was added gene: FANCD2 was added to Radial Ray Abnormalities_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: FANCD2 was set to Unknown