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  3. FANCA
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Microcephaly

Gene: FANCA

Green List (high evidence)
FANCA (Fanconi anemia complementation group A)
EnsemblGeneIds (GRCh38): ENSG00000187741
EnsemblGeneIds (GRCh37): ENSG00000187741
OMIM: 607139, Gene2Phenotype
FANCA is in 15 panels

1 review

Seb Lunke (Victorian Clinical Genetics Services)

Green List (high evidence)

Well established gene disease association
Sources: Expert Review
Created: 2 Sep 2020, 6:47 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Fanconi anemia, complementation group A (MIM#227650)

Publications

Variants in this GENE are reported as part of current diagnostic practice

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

2 Sep 2020, Gel status: 1

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

Seb Lunke (Victorian Clinical Genetics Services)

gene: FANCA was added gene: FANCA was added to Microcephaly. Sources: Expert Review Mode of inheritance for gene: FANCA was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: FANCA were set to 20301575 Phenotypes for gene: FANCA were set to Fanconi anemia, complementation group A (MIM#227650) Review for gene: FANCA was set to GREEN gene: FANCA was marked as current diagnostic