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Mendeliome

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 4 panels

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

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: Literature
Created: 4 Jun 2025, 3:49 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Fanconi anaemia, MONDO:0019391, FAAP100-related

Publications

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Fanconi anaemia, MONDO:0019391, FAAP100-related
OMIM
611301
Clinvar variants
Variants in FAAP100
Penetrance
None
Publications
Panels with this gene

History Filter Activity

4 Jun 2025, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: faap100 has been classified as Green List (High Evidence).

4 Jun 2025, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: faap100 has been classified as Green List (High Evidence).

4 Jun 2025, Gel status: 1

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

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: FAAP100 was added gene: FAAP100 was added to Mendeliome. 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