Monogenic short stature
Gene: FANCD2

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

1 review

Rebecca Foulger (Genomics England curator)

I don't know

Following discussion with members of the Endocrine Specialist Group at the Webex call on 23.05.19, it was agreed that Green genes associated with the Fanconi anaemia phenotype should be included on this panel. Therefore kept on the panel as a Green gene.
Created: 30 May 2019, 9:51 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Fanconi Anemia; 227646 Fanconi anemia, complementation group D2; Fanconi anemia, complementation group D2, 227646

Publications

11239454

Created: 30 May 2019, 9:51 a.m.

Copied from panel: Growth failure in early childhood v3.76

Details

Mode of Inheritance

BIALLELIC, autosomal or pseudoautosomal

Sources

Expert Review Green

Phenotypes

Fanconi anemia, complementation group D2, OMIM:227646

OMIM

613984

Clinvar variants

Variants in FANCD2

Penetrance

None

Publications

11239454

Panels with this gene

History Filter Activity

26 Mar 2024, Gel status: 3

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

Arina Puzriakova (Genomics England Curator)

gene: FANCD2 was added gene: FANCD2 was added to Monogenic short stature. Sources: Expert Review Green Mode of inheritance for gene: FANCD2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: FANCD2 were set to 11239454 Phenotypes for gene: FANCD2 were set to Fanconi anemia, complementation group D2, OMIM:227646

Monogenic short stature Gene: FANCD2