Monogenic short stature
Gene: FANCL

FANCL (Fanconi anemia complementation group L)
EnsemblGeneIds (GRCh38): ENSG00000115392
EnsemblGeneIds (GRCh37): ENSG00000115392
OMIM: 608111, Gene2Phenotype
FANCL is in 20 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; Fanconi anemia, complementation group L, 614083; 614083Fanconi anemia, complementation group L

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 L, OMIM:614083

OMIM

608111

Clinvar variants

Variants in FANCL

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: FANCL was added gene: FANCL was added to Monogenic short stature. Sources: Expert Review Green Mode of inheritance for gene: FANCL was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: FANCL were set to 16474160; 12724401; 25754594; 12973351; 19405097 Phenotypes for gene: FANCL were set to Fanconi anemia, complementation group L, OMIM:614083

Monogenic short stature Gene: FANCL