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Limb disorders

Gene: FANCI

Green List (high evidence)

FANCI (Fanconi anemia complementation group I)
EnsemblGeneIds (GRCh38): ENSG00000140525
EnsemblGeneIds (GRCh37): ENSG00000140525
OMIM: 611360, Gene2Phenotype
FANCI is in 18 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, 9:48 a.m.
Comment when marking as ready: Sufficient evidence
Created: 28 Feb 2017, 1:36 p.m.
3 cases with biallelic mutations in OMIM
Created: 22 Feb 2017, 3:53 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Fanconi anemia, complementation group I 609053

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: 3 cases with biallelic mutatio

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 FANCI. Mode of inheritance for gene FANCI was changed from to BIALLELIC, autosomal or pseudoautosomal Added phenotypes Fanconi anemia, complementation group I, 609053 for gene: FANCI Publications for gene FANCI were changed from to 11239453; 17452773

13 Aug 2018, Gel status: 1

Added New Source

Ellen McDonagh (Genomics England Curator)

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

13 Aug 2018, Gel status: 1

Created

Ellen McDonagh (Genomics England Curator)

FANCI was created by Ellen McDonagh