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Microcephaly

Gene: FANCC

Green List (high evidence)

FANCC (Fanconi anemia complementation group C)
EnsemblGeneIds (GRCh38): ENSG00000158169
EnsemblGeneIds (GRCh37): ENSG00000158169
OMIM: 613899, Gene2Phenotype
FANCC 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 14% cases is caused by FANCC
Sources: Literature
Created: 2 Sep 2020, 6:46 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Fanconi anemia, complementation group C (MIM#227645)

Publications

History Filter Activity

2 Sep 2020, Gel status: 3

Entity classified by Genomics England curator

Seb Lunke (Victorian Clinical Genetics Services)

Gene: fancc 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: fancc 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: FANCC was added gene: FANCC was added to Microcephaly. Sources: Literature Mode of inheritance for gene: FANCC was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: FANCC were set to 20301575 Phenotypes for gene: FANCC were set to Fanconi anemia, complementation group C (MIM#227645) Penetrance for gene: FANCC were set to unknown Review for gene: FANCC was set to GREEN