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Cytopenias and congenital anaemias

Gene: FANCI

Green List (high evidence)

FANCI (Fanconi anemia complementation group I)
EnsemblGeneIds (GRCh38): ENSG00000140525
EnsemblGeneIds (GRCh37): ENSG00000140525
OMIM: 611360, Gene2Phenotype
FANCI is in 22 panels

2 reviews

Helen Brittain (Genomics England Curator)

Green List (high evidence)

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 Mar 2017, Gel status: 4

panel promoted to version 1

Arianna Tucci (Genomics England Curator)

Promoted to V1 on 11 March 2017, after internal review and discussion with the clinical team.

28 Feb 2017, Gel status: 4

Gene classified by Genomics England curator

Helen Brittain (Genomics England Curator)

This gene has been classified as Green List (High Evidence).

28 Feb 2017, Gel status: 4

Set Phenotypes

Helen Brittain (Genomics England Curator)

Phenotypes for FANCI were set to Fanconi Anemia; Fanconi anemia, complementation group I, 609053;

28 Feb 2017, Gel status: 4

Set publications

Helen Brittain (Genomics England Curator)

Publications for FANCI were set to 11239453; 17452773

28 Feb 2017, Gel status: 4

Gene classified by Genomics England curator

Helen Brittain (Genomics England Curator)

This gene has been classified as Green List (High Evidence).

17 Feb 2017, Gel status: 2

Added New Source

Louise Daugherty (Genomics England Curator)

FANCI was added to Cytopaenias and congenital anaemiaspanel. Sources: UKGTN,Illumina TruGenome Clinical Sequencing Services,Expert list

17 Feb 2017, Gel status: 0

Created

Louise Daugherty (Genomics England Curator)

FANCI was created by LouiseD