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  3. FANCE
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Microcephaly

Gene: FANCE

Green List (high evidence)
FANCE (Fanconi anemia complementation group E)
EnsemblGeneIds (GRCh38): ENSG00000112039
EnsemblGeneIds (GRCh37): ENSG00000112039
OMIM: 613976, Gene2Phenotype
FANCE is in 14 panels

1 review

Naomi Baker (Victorian Clinical Genetics Services)

Green List (high evidence)

Well established gene-disease association, with microcephaly a reported feature.
Sources: Literature
Created: 2 Sep 2020, 6:47 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Fanconi anemia, complementation group E, MIM#600901

Publications

Created: 2 Sep 2020, 6:47 a.m.

Panel version: 0.314

History Filter Activity

2 Sep 2020, Gel status: 3

Entity classified by Genomics England curator

Seb Lunke (Victorian Clinical Genetics Services)

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

2 Sep 2020, Gel status: 3

Entity classified by Genomics England curator

Seb Lunke (Victorian Clinical Genetics Services)

Gene: fance 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

Naomi Baker (Victorian Clinical Genetics Services)

gene: FANCE was added gene: FANCE was added to Microcephaly. Sources: Literature Mode of inheritance for gene: FANCE was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: FANCE were set to PMID: 20301575 Phenotypes for gene: FANCE were set to Fanconi anemia, complementation group E, MIM#600901 Penetrance for gene: FANCE were set to Complete Review for gene: FANCE was set to GREEN