Primary Ovarian Insufficiency_Premature Ovarian Failure

Gene: FANCL

Amber List (moderate evidence)

FANCL (Fanconi anemia complementation group L)
EnsemblGeneIds (GRCh38): ENSG00000115392
EnsemblGeneIds (GRCh37): ENSG00000115392
OMIM: 608111, Gene2Phenotype
FANCL is in 16 panels

1 review

Bryony Thompson (Royal Melbourne Hospital)

I don't know

2 independent cases reported with heterozygous loss of function variants and primary ovarian insufficiency. Also, homozygous frameshift insertion identified in a POI case without any known features of fanconi anaemia. Null mouse model is less fertile and has defective proliferation of germ cells.
Sources: Literature
Created: 28 Aug 2020, 4:42 a.m. | Last Modified: 5 Dec 2021, 11:45 p.m.
Panel Version: 0.251

Mode of inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal

Phenotypes
Primary ovarian insufficiency; Fanconi anemia, complementation group L MIM#614083

Publications

History Filter Activity

5 Dec 2021, Gel status: 2

Set Phenotypes

Bryony Thompson (Royal Melbourne Hospital)

Phenotypes for gene: FANCL were changed from Primary ovarian insufficiency to Primary ovarian insufficiency; Fanconi anemia, complementation group L MIM#614083

5 Dec 2021, Gel status: 2

Set mode of inheritance

Bryony Thompson (Royal Melbourne Hospital)

Mode of inheritance for gene: FANCL was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to BOTH monoallelic and biallelic, autosomal or pseudoautosomal

5 Dec 2021, Gel status: 2

Entity classified by Genomics England curator

Bryony Thompson (Royal Melbourne Hospital)

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

28 Aug 2020, Gel status: 1

Entity classified by Genomics England curator

Bryony Thompson (Royal Melbourne Hospital)

Gene: fancl has been classified as Red List (Low Evidence).

28 Aug 2020, Gel status: 1

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

Bryony Thompson (Royal Melbourne Hospital)

gene: FANCL was added gene: FANCL was added to Amenorrhoea. Sources: Literature Mode of inheritance for gene: FANCL was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: FANCL were set to 32048394; 32851770; 11823446 Phenotypes for gene: FANCL were set to Primary ovarian insufficiency Review for gene: FANCL was set to AMBER