Pigmentary skin disorders

Gene: FANCL

Green List (high evidence)

FANCL (Fanconi anemia complementation group L)
EnsemblGeneIds (GRCh38): ENSG00000115392
EnsemblGeneIds (GRCh37): ENSG00000115392
OMIM: 608111, Gene2Phenotype
FANCL is in 19 panels

2 reviews

Tom Cullup (Great Ormond Street Hospital)

Green List (high evidence)

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
FANCONI ANEMIA, COMPLEMENTATION GROUP L; FANCL

Publications

Catherine Snow (Genomics England)

Green List (high evidence)

Following discussion with the Genomics England clinical team it was agreed that genes associated with Fanconi anaemia should be included on this panel. Therefore added to panel as a Green gene.
Created: 2 Dec 2019, 3:48 p.m. | Last Modified: 2 Dec 2019, 3:48 p.m.
Panel Version: 0.22

History Filter Activity

12 Dec 2019, Gel status: 3

Set Phenotypes, Set publications

Catherine Snow (Genomics England)

Added phenotypes FANCONI ANEMIA, COMPLEMENTATION GROUP L; FANCL for gene: FANCL Publications for gene FANCL were changed from to 25754594; 12973351; 19405097

2 Dec 2019, Gel status: 3

Added New Source, Status Update

Catherine Snow (Genomics England)

Source Expert Review Green was added to FANCL. Rating Changed from Red List (low evidence) to Green List (high evidence)

2 Dec 2019, Gel status: 1

Created, Added New Source, Set mode of inheritance

Catherine Snow (Genomics England)

gene: FANCL was added gene: FANCL was added to Pigmentary skin disorders. Sources: Expert Review Mode of inheritance for gene: FANCL was set to BIALLELIC, autosomal or pseudoautosomal