Radial Ray Abnormalities
Gene: FAAP100
PMID 40244696: reports two families with homozygous LoF variants. First family had 6 pregnancy losses and two infants with a severe phenotype characterised by multiple congenital anomalies. Second family had one liveborn child with multiple anomalies and a termination of pregnancy for multiple congenital anomalies. Supportive functional data. Third family reported in PMID 40232843, homozygous missense variant in a fetus with multiple congenital anomalies suggestive of FA. Functional data.
Sources: LiteratureCreated: 4 Jun 2025, 3:53 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Fanconi anaemia, MONDO:0019391, FAAP100-related
Publications
Gene: faap100 has been classified as Green List (High Evidence).
Gene: faap100 has been classified as Green List (High Evidence).
gene: FAAP100 was added gene: FAAP100 was added to Radial Ray Abnormalities. Sources: Literature 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 anaemia, MONDO:0019391, FAAP100-related Review for gene: FAAP100 was set to GREEN