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  3. FANCI
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Microcephaly

Gene: FANCI

Green List (high evidence)
FANCI (Fanconi anemia complementation group I)
EnsemblGeneIds (GRCh38): ENSG00000140525
EnsemblGeneIds (GRCh37): ENSG00000140525
OMIM: 611360, Gene2Phenotype
FANCI is in 15 panels

1 review

Ain Roesley (Victorian Clinical Genetics Services)

Green List (high evidence)

75% of Fanconi Anemia (FA) patients have microcephaly and approx 1% cases is caused by FANCI
Sources: Literature
Created: 2 Sep 2020, 6:48 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Fanconi anemia, complementation group I (MIM#609053)

Publications

Created: 2 Sep 2020, 6:48 a.m.

Panel version: 0.315

History Filter Activity

2 Sep 2020, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: fanci has been classified as Green List (High Evidence).

2 Sep 2020, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: fanci has been classified as Green List (High Evidence).

2 Sep 2020, Gel status: 0

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

Ain Roesley (Victorian Clinical Genetics Services)

gene: FANCI was added gene: FANCI was added to Microcephaly. Sources: Literature Mode of inheritance for gene: FANCI was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: FANCI were set to 20301575 Phenotypes for gene: FANCI were set to Fanconi anemia, complementation group I (MIM#609053) Penetrance for gene: FANCI were set to unknown Review for gene: FANCI was set to GREEN