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Limb 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 20 panels

2 reviews

Helen Brittain (Genomics England Curator)

Green List (high evidence)

Comment when marking as ready: In biallelic form, causes FA and therefore radial dysplasia is an associated phenotypic feature.
Created: 11 May 2017, 9:50 a.m.
Comment when marking as ready: Sufficient evidence
Created: 28 Feb 2017, 1:38 p.m.
4 cases on OMIM
Created: 22 Feb 2017, 4:05 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Fanconi anemia, complementation group L 614083

Publications

Created: 22 Feb 2017, 4:05 p.m.

Panel version: Imported from Radial dysplasia panel version Imported from "Cytopaenias and congenital anaemias" panel version 0.21

BRIDGE consortium (NIHRBR-RD)

Green List (high evidence)

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Fanconi anemia

Publications

Variants in this GENE are reported as part of current diagnostic practice

Created: 16 Jan 2017, 3:46 p.m.

Panel version: Imported from Radial dysplasia panel version Imported from "Cytopaenias and congenital anaemias" panel version Imported from "Anaemias and red cell disorders" panel version 0.9

History Filter Activity

11 Dec 2018, Gel status: 4

Panel promoted to version 1.0

Eleanor Williams (Genomics England Curator)

Helen Brittain: 4 cases on OMIM

16 Oct 2018, Gel status: 4

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

Sarah Leigh (Genomics England Curator)

Source Expert Review Green was added to FANCL. Mode of inheritance for gene FANCL was changed from to BIALLELIC, autosomal or pseudoautosomal Added phenotypes Fanconi anemia, complementation group L, 614083 for gene: FANCL Publications for gene FANCL were changed from to 25754594; 12973351; 19405097; 12724401

13 Aug 2018, Gel status: 1

Added New Source

Ellen McDonagh (Genomics England Curator)

FANCL was added to Limb disorders panel. Sources: Victorian Clinical Genetics Services

13 Aug 2018, Gel status: 1

Created

Ellen McDonagh (Genomics England Curator)

FANCL was created by Ellen McDonagh