Primary Ovarian Insufficiency_Premature Ovarian Failure

Gene: FANCC

Amber List (moderate evidence)

FANCC (Fanconi anemia complementation group C)
EnsemblGeneIds (GRCh38): ENSG00000158169
EnsemblGeneIds (GRCh37): ENSG00000158169
OMIM: 613899, Gene2Phenotype
FANCC is in 15 panels

1 review

Bryony Thompson (Royal Melbourne Hospital)

I don't know

Hypergonadotropic hypogonadism is listed as a genitourinary feature of the condition. A null mouse model has compromised gametogenesis.
Sources: Literature
Created: 5 Dec 2021, 11:35 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Fanconi anemia, complementation group C MIM#227645

Publications

History Filter Activity

5 Dec 2021, Gel status: 2

Entity classified by Genomics England curator

Bryony Thompson (Royal Melbourne Hospital)

Gene: fancc has been classified as Amber List (Moderate Evidence).

5 Dec 2021, Gel status: 2

Entity classified by Genomics England curator

Bryony Thompson (Royal Melbourne Hospital)

Gene: fancc has been classified as Amber List (Moderate Evidence).

5 Dec 2021, Gel status: 1

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

Bryony Thompson (Royal Melbourne Hospital)

gene: FANCC was added gene: FANCC was added to Primary Ovarian Insufficiency_Premature Ovarian Failure. Sources: Literature Mode of inheritance for gene: FANCC was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: FANCC were set to 34794894; 8630504 Phenotypes for gene: FANCC were set to Fanconi anemia, complementation group C MIM#227645 Review for gene: FANCC was set to AMBER