Skeletal dysplasia
Gene: FAM46AAdded new-gene-name tag, new approved HGNC gene symbol for FAM46A is TENT5ACreated: 18 Dec 2019, 4 p.m. | Last Modified: 18 Dec 2019, 4 p.m.
Panel Version: 2.0
Comment on list classification: Changing rating from red to green. Including genes that are green on the Osteogenesis imperfecta panel (panel ID:196, version 2.0) as green on the Skeletal dysplasia panel on the advice of Prof Lyn Chitty.Created: 11 Dec 2019, 2:05 p.m. | Last Modified: 11 Dec 2019, 2:05 p.m.
Panel Version: 1.258
Adding gene to panel as it is green on the Osteogenesis imperfecta panel.
Sources: OtherCreated: 11 Dec 2019, 2:04 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Osteogenesis imperfecta, type XVIII 617952
Publications
Phenotypes for gene: FAM46A were changed from Osteogenesis imperfecta, type XVIII 617952 to Osteogenesis imperfecta, type XVIII, OMIM:617952
Tag new-gene-name tag was added to gene: FAM46A.
Gene: fam46a has been classified as Green List (High Evidence).
Gene: fam46a has been classified as Red List (Low Evidence).
gene: FAM46A was added gene: FAM46A was added to Skeletal dysplasia. Sources: Other Mode of inheritance for gene: FAM46A was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: FAM46A were set to 29358272 Phenotypes for gene: FAM46A were set to Osteogenesis imperfecta, type XVIII 617952 Review for gene: FAM46A was set to GREEN