Activity
| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
4 actions
|
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hydrocephalus v5.12 | FAAP100 | Ida Ertmanska Classified gene: FAAP100 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hydrocephalus v5.12 | FAAP100 | Ida Ertmanska Added comment: Comment on list classification: There are 3 unrelated individuals reported in literature with hydrocephalus and/or ventriculomegaly, harbouring biallelic FAAP100 variants. Based on available evidence, FAAP100 should be promoted to Green at the next update. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hydrocephalus v5.12 | FAAP100 | Ida Ertmanska Gene: faap100 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hydrocephalus v5.11 | FAAP100 |
Ida Ertmanska gene: FAAP100 was added gene: FAAP100 was added to Hydrocephalus. Sources: Literature Q1_26_promote_green tags were added to gene: FAAP100. Mode of inheritance for gene: FAAP100 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: FAAP100 were set to 40232843; 40244696 Phenotypes for gene: FAAP100 were set to Fanconi anemia, complementation group X, OMIM:621258 Review for gene: FAAP100 was set to GREEN Added comment: PMID: 40232843 Kuehl et al., 2025 Report of a consanguineous family including a fetus homozygous for FAAP100 c.1642A>C p.(T542P). Proband phenotype: growth retardation, radial ray defects, duodenal atresia, ventricular septal defect, and hydrocephalus; cellular hypersensitivity to ICL induction by mitomycin C - consistent with FA spectrum. Functional studies: Faap100-/- mice exhibited embryonic lethality, microsomia, malformations, and gonadal atrophy resembling mice with established Fanconi anemia subtypes. Also, faap100–/– zebrafish show a complete female-to-male sex reversal, consistent with 17 other zebrafish fanc gene–KO models. PMID: 40244696 Harrison et al., 2025 Family 1: consanguineous, presented with a history of 8 pregnancies, 6 of which resulted in spontaneous abortion and 2 that resulted in death of the infant soon after birth; liveborn children presented with severe developmental and hematologic abnormalities: 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. Chromosome breakage studies showed 2.94 breaks/chromosome in individual A (control = 0.06) - result consistent with Fanconi anemia. Both sibs were homozygous for FAAP100 variant c.1151_1161del; p.E384Gfs*28; parents confirmed het. Family 2: nonconsanguineous parents with history of 2 spontaneous abortions and a female child (individual C) that died at 14 months due to respiratory failure. Individual C presented with presented with congenital anomalies including bilateral microtia, reduced radius size in both forearms, absence of both thumbs, and a right radial club hand. Severe anomalies detected in individual D on a prenatal scan: bilateral cerebral lateral ventriculomegaly, a dysplastic pancreatic tail, bilateral ectopic kidneys, and incomplete lung lobation - pregnancy was terminated. Individual D was found to be homozygous for c.2590C>T (p.Gln864Ter). Variant is in the stretch of homozygosity, suggesting a founder effect; parents confirmed het. FAAP100 is linked to Fanconi anemia, complementation group X, MIM:621258 (OMIM accessed 23rd Feb 2026). Sources: Literature |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||