IUGR and IGF abnormalities

Gene: FANCA

Green List (high evidence)

FANCA (Fanconi anemia complementation group A)
EnsemblGeneIds (GRCh38): ENSG00000187741
EnsemblGeneIds (GRCh37): ENSG00000187741
OMIM: 607139, Gene2Phenotype
FANCA is in 16 panels

2 reviews

Peter Clayton (University of Manchester)

Green List (high evidence)

Philip Murray (University of Manchester)

Green List (high evidence)

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert review
  • Expert Review Green
Phenotypes
  • pre- and postnatal growth retardation
  • malformations of the kidneys, heart, and skeleton (absent or abnormal thumbs and radii)
  • a typical facial appearance with small head, eyes, and mouth
  • hearing loss
  • hypogonadism and reduced fertility
  • cutaneous abnormalities (hyper- or hypopigmentation and cafe-au-lait spots)
  • bone marrow failure
  • and susceptibility to cancer, predominantly acute myeloid leukemia.
  • Fanconi Anemia
  • Fanconi anemia, complementation group A, 227650
  • Fanconi anemia
OMIM
607139
Clinvar variants
Variants in FANCA
Penetrance
Complete
Publications
Panels with this gene

History Filter Activity

14 May 2016, Gel status: 4

Added New Source

Ellen McDonagh (Genomics England Curator)

FANCA was added to IUGR and IGF abnormalitiespanel. Source: Expert review

25 Apr 2016, Gel status: 4

Gene classified by Genomics England curator

emma baple (Genomics England Curator)

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

25 Apr 2016, Gel status: 4

Gene classified by Genomics England curator

emma baple (Genomics England Curator)

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

23 Oct 2015, Gel status: 0

Added New Source

Philip Murray (University of Manchester)

FANCA was added to IUGR and IGF abnormalitiespanel. Sources: Literature

23 Oct 2015, Gel status: 0

Created

Philip Murray (University of Manchester)

FANCA was created by PhilMurray