Skeletal dysplasia

Gene: FAM46A

Green List (high evidence)

Comment when marking as ready: HGNC approved name: TENT5A

Osteogenesis imperfecta type XVIII (OI18) is characterized by congenital bowing of the long bones, wormian bones, blue sclerae, vertebral collapse, and multiple fractures in the first years of life.

In 4 children from 3 unrelated consanguineous families with osteogenesis imperfecta, Doyard et al. (2018) identified homozygosity for mutations in the FAM46A gene. The mutations were identified by exome sequencing and confirmed by Sanger sequencing.

Created: 17 Jan 2022, 10:27 p.m. | Last Modified: 17 Jan 2022, 10:27 p.m.

Panel Version: 0.10643

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Osteogenesis imperfecta, type XVIII MIM#617952

Publications

• 29358272

Variants in this GENE are reported as part of current diagnostic practice