Fanconi anemia of complementation group U (FANCU) is caused by homozygous mutation in the XRCC2 gene (600375) on chromosome 7q36. [From OMIM]
Diseases of the blood and blood-forming organs and certain disorders involving the immune mechanism
Aplastic and other anaemias
Autosomal recessive
7q36.1
Fanconi anemia of complementation group U (FANCU) is caused by homozygous mutation in the XRCC2 gene (600375) on chromosome 7q36. [From OMIM]
| Subject ID | Country | Sex | Family History | Parental Consanguinity | HPO Terms | Variant | Zygosity | Mode of Inheritance | Reference | Remarks |
|---|---|---|---|---|---|---|---|---|---|---|
| 617247.1 | Saudi Arabia | Female | Yes | Yes | Progressive microcephaly; Multiple cafe-... Progressive microcephaly; Multiple cafe-au-lait spots; Strabismus; Abnormal facial shape; Failure to thrive; Pancytopenia; Chromosome breakage; Hip dysplasia  | NM_005431.2:c.643C>T | Homozygous | Autosomal, Recessive | Maddirevula et al. 2019 | Similarly affected s... |
| 617247.2 | Saudi Arabia | Male | Yes | Facial palsy; Microcephaly; Absent thumb... Facial palsy; Microcephaly; Absent thumb; Absent radius; Absent scaphoid | NM_005431.2:c.643C>T | Homozygous | Autosomal, Recessive | Shamseldin et al. 2012 | ||
| 617247.3 | Saudi Arabia | Male | Non-obstructive azoospermia; Short statu... Non-obstructive azoospermia; Short stature; Renal hypoplasia | NM_005431.2:c.643C>T | Homozygous | Autosomal, Recessive | Alhathal et al. 2020 | Limited evidence of ... |