GMS Musculoskeletal specialist test group Skeletal dysplasia
Gene: FAM58AEnsemblGeneIds (GRCh38): ENSG00000262919
EnsemblGeneIds (GRCh37): ENSG00000147382
OMIM: 300708, Gene2Phenotype
FAM58A is in 7 panels
2 reviews
Louise Daugherty (Genomics England Curator)
Added new-gene-name tag, new approved HGNC gene symbol for FAM58A is CCNQCreated: 9 May 2019, 3:32 p.m.
Tracy Lester (Genetics laboratory, Oxford UK)
polydactyly-syndactyly-triphalangism SD gp. Only females reported - ? Lethal in males. At least 3 cases reported; Review on behalf of Tracy LesterCreated: 6 Mar 2019, 11:52 a.m.
Mode of inheritance
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Phenotypes
STAR syndrome 300707
Details
- Mode of Inheritance
- X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
- Sources
-
- Expert Review Green
- NHS GMS
- Phenotypes
-
- STAR syndrome 300707
- Tags
- OMIM
- 300708
- Clinvar variants
- Variants in FAM58A
- Penetrance
- None
- Panels with this gene
History Filter Activity
Added Tag
Louise Daugherty (Genomics England Curator)Tag new-gene-name tag was added to gene: FAM58A.
Created, Added New Source, Set mode of inheritance, Set Phenotypes
Eleanor Williams (Genomics England Curator)gene: FAM58A was added gene: FAM58A was added to GMS Musculoskeletal specialist test group Skeletal dysplasia. Sources: NHS GMS,Expert Review Green Mode of inheritance for gene: FAM58A was set to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) Phenotypes for gene: FAM58A were set to STAR syndrome 300707