Monogenic short stature
Gene: FANCI

FANCI (Fanconi anemia complementation group I)
EnsemblGeneIds (GRCh38): ENSG00000140525
EnsemblGeneIds (GRCh37): ENSG00000140525
OMIM: 611360, Gene2Phenotype
FANCI 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, complementation group I, 609053; Fanconi Anemia; 609053 Fanconi anemia, complementation group I

Publications

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 I, OMIM:609053

OMIM

611360

Clinvar variants

Variants in FANCI

Penetrance

None

Publications

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: FANCI was added gene: FANCI was added to Monogenic short stature. Sources: Expert Review Green Mode of inheritance for gene: FANCI was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: FANCI were set to 17452773; 11239453 Phenotypes for gene: FANCI were set to Fanconi anemia, complementation group I, OMIM:609053

Monogenic short stature Gene: FANCI