1. Panels
  2. Fetal anomalies
  3. FAAP100
Genes in panel
Prev Next

Fetal anomalies

Gene: FAAP100

Green List (high evidence)
FAAP100 (Fanconi anemia core complex associated protein 100)
EnsemblGeneIds (GRCh38): ENSG00000185504
EnsemblGeneIds (GRCh37): ENSG00000185504
OMIM: 611301, Gene2Phenotype
FAAP100 is in 3 panels

3 reviews

Achchuthan Shanmugasundram (Genomics England Curator)

Green List (high evidence)

The rating of this gene has been updated to green and the mode of inheritance set to BIALLELIC, autosomal or pseudoautosomal following NHS Genomic Medicine Service approval.
Created: 12 Dec 2025, 3:10 p.m. | Last Modified: 12 Dec 2025, 3:10 p.m.
Panel Version: 6.120
Created: 12 Dec 2025, 3:10 p.m.
Last Modified: 12 Dec 2025, 3:10 p.m.
Panel version: 6.120

Arina Puzriakova (Genomics England Curator)

Green List (high evidence)

New gene added to this panel. There is sufficient evidence to make this gene Green at the next GMS panel update, inline with the recent review by the R21 Clinical Oversight Group.
Created: 5 Sep 2025, 4:41 p.m. | Last Modified: 5 Sep 2025, 4:41 p.m.
Panel Version: 6.29
Created: 5 Sep 2025, 4:41 p.m.
Last Modified: 5 Sep 2025, 4:41 p.m.
Panel version: 6.29

Sarah Graham (West Midlands Regional Genetics Laboratory, Birmingham Women's and Children’s NHS Foundation Trust)

Green List (high evidence)

This gene and phenotype were reviewed during meetings in June & July 2025. The meetings included representatives of the North Thames and Central & South R21 testing GLHs and from the R21 Clinical Oversight Group. Clinical review and curation was performed by Natalie Chandler & Elizabeth Scotchman (North Thames GLH), Natalie Bibb, Stephanie Allen & Sarah Graham (Central & South GLH) and Alice Gardham, Esther Kinning, Vicki Harrison, Anna DeBurca, Natalie Canham, Elizabeth Wall, Sunayna Best, Soo-Mi Park & Sahar Mansour (R21 Clinical Oversight Group).
Created: 5 Sep 2025, 4:31 p.m. | Last Modified: 5 Sep 2025, 4:31 p.m.
Panel Version: 6.28
New Fanconi anemia gene. Homozygous c.1151_1161del p.E384Gfs*28 in 2 pregnancies of same couple with prenatal ventriculomegaly, absent right kidney, IUGR, multiple limb abnormalities, and cardiac defects in 1st pregnancy; and severe IUGR, hydrocephalus, multicystic dysplastic kidneys, a contracted and hypoplastic urinary bladder, and an imperforate anus in 2nd pregnancy (PMID: 40244696). Homozygous c.2590C>T (p.Gln864Ter) in a neonate with bilateral microtia, reduced radius size, absence of both thumbs, and a right radial club hand, tetralogy of Fallot, single ectopic kidney, and microcornea (PMID: 40244696). Homozygous c.1642A>C p.(T542P), in a fetus with malformations suggestive of FA; functional studies support pathogenicity (PMID: 40232843). Faap100-/- mice exhibited embryonic lethality, microsomia, malformations, and gonadal atrophy resembling mice with established Fanconi anemia subtypes (PMID: 40232843). Cases with severe Fanconi anemia phenotypes in 3 unrelated families plus supportive animal model.
Created: 5 Sep 2025, 2:55 p.m. | Last Modified: 5 Sep 2025, 2:55 p.m.
Panel Version: 6.24

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Fanconi anemia

Publications

Created: 5 Sep 2025, 2:55 p.m.
Last Modified: 5 Sep 2025, 2:55 p.m.
Panel version: 6.28

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • NHS GMS
  • Expert Review Green
Phenotypes
  • Fanconi anemia, complementation group X, OMIM:621258
OMIM
611301
Clinvar variants
Variants in FAAP100
Penetrance
None
Publications
Panels with this gene

History Filter Activity

16 Dec 2025, Gel status: 3

Removed Tag, Removed Tag

Achchuthan Shanmugasundram (Genomics England Curator)

Tag Q3_25_promote_green was removed from gene: FAAP100. Tag Q3_25_NHS_review was removed from gene: FAAP100.

12 Dec 2025, Gel status: 3

Added New Source, Added New Source, Status Update

Arina Puzriakova (Genomics England Curator)

Source Expert Review Green was added to FAAP100. Source NHS GMS was added to FAAP100. Rating Changed from Amber List (moderate evidence) to Green List (high evidence)

8 Sep 2025, Gel status: 2

Set Phenotypes

Arina Puzriakova (Genomics England Curator)

Phenotypes for gene: FAAP100 were changed from Fanconi anemia to Fanconi anemia, complementation group X, OMIM:621258

8 Sep 2025, Gel status: 2

Added Tag, Added Tag

Arina Puzriakova (Genomics England Curator)

Tag Q3_25_promote_green tag was added to gene: FAAP100. Tag Q3_25_NHS_review tag was added to gene: FAAP100.

5 Sep 2025, Gel status: 2

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

Arina Puzriakova (Genomics England Curator)

gene: FAAP100 was added gene: FAAP100 was added to Fetal anomalies. Sources: Expert Review Amber Mode of inheritance for gene: FAAP100 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: FAAP100 were set to 40244696; 40232843 Phenotypes for gene: FAAP100 were set to Fanconi anemia