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Mendeliome

Gene: FAM46A

Green List (high evidence)

FAM46A (family with sequence similarity 46 member A)
EnsemblGeneIds (GRCh38): ENSG00000112773
EnsemblGeneIds (GRCh37): ENSG00000112773
OMIM: 611357, Gene2Phenotype
FAM46A is in 5 panels

1 review

Belinda Chong (Victorian Clinical Genetics Services)

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

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

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Osteogenesis imperfecta, type XVIII MIM#617952
Tags
new gene name
OMIM
611357
Clinvar variants
Variants in FAM46A
Penetrance
None
Publications
Panels with this gene

History Filter Activity

20 Jan 2022, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: fam46a has been classified as Green List (High Evidence).

20 Jan 2022, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: FAM46A were changed from to Osteogenesis imperfecta, type XVIII MIM#617952

20 Jan 2022, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: FAM46A were set to

20 Jan 2022, Gel status: 3

Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Mode of inheritance for gene: FAM46A was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal

20 Jan 2022, Gel status: 3

Added Tag

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Tag new gene name tag was added to gene: FAM46A.

17 Nov 2019, Gel status: 3

Created, Added New Source, Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: FAM46A was added gene: FAM46A was added to Mendeliome_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: FAM46A was set to Unknown