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  2. Osteogenesis Imperfecta and Osteoporosis
  3. FAM46A
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Osteogenesis Imperfecta and Osteoporosis

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

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Comment when marking as ready: HGNC approved name: TENT5A
Created: 27 Jul 2020, 12:19 a.m. | Last Modified: 27 Jul 2020, 12:19 a.m.
Panel Version: 0.33
Created: 27 Jul 2020, 12:19 a.m.
Last Modified: 27 Jul 2020, 12:19 a.m.
Panel version: 0.33

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
Panels with this gene

History Filter Activity

27 Jul 2020, 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

27 Jul 2020, 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

27 Jul 2020, 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).

27 Jul 2020, 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 Osteogenesis imperfecta_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: FAM46A was set to Unknown