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Limb disorders

Gene: FANCA

Green List (high evidence)

FANCA (Fanconi anemia complementation group A)
EnsemblGeneIds (GRCh38): ENSG00000187741
EnsemblGeneIds (GRCh37): ENSG00000187741
OMIM: 607139, Gene2Phenotype
FANCA is in 19 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, 9:38 a.m.
Comment when marking as ready: evidence for causation met
Created: 28 Feb 2017, 1:27 p.m.
Many cases. Biallelic
Created: 22 Feb 2017, 3 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Fanconi anemia, complementation group A 227650

Publications

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

History Filter Activity

11 Dec 2018, Gel status: 4

Panel promoted to version 1.0

Eleanor Williams (Genomics England Curator)

Helen Brittain: Many cases. Biallelic

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 FANCA. Mode of inheritance for gene FANCA was changed from to BIALLELIC, autosomal or pseudoautosomal Added phenotypes Fanconi anemia, complementation group A, 227650 for gene: FANCA Publications for gene FANCA were changed from to 8896563

13 Aug 2018, Gel status: 1

Added New Source

Ellen McDonagh (Genomics England Curator)

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

13 Aug 2018, Gel status: 1

Created

Ellen McDonagh (Genomics England Curator)

FANCA was created by Ellen McDonagh