CAKUT
Gene: FAM58AEnsemblGeneIds (GRCh38): ENSG00000262919
EnsemblGeneIds (GRCh37): ENSG00000147382
OMIM: 300708, Gene2Phenotype
FAM58A is in 7 panels
2 reviews
Rebecca Foulger (Genomics England curator)
Comment on list classification: FAM58A added to panel and rated Green by Zornitza Stark. Updated rating from Grey to Green following literature review: sufficient cases to support gene:disease association, and renal phenotypes are common.Created: 4 May 2020, 3:04 p.m. | Last Modified: 4 May 2020, 3:04 p.m.
Panel Version: 1.80
Comment on mode of inheritance: Set MOI to XLD to match literature (PMID:28225384, PMID:18297069).Created: 4 May 2020, 3:03 p.m. | Last Modified: 4 May 2020, 3:03 p.m.
Panel Version: 1.78
PMID:28225384 (Lefroy et al., 2017) report a 19 year old woman with STAR syndrome; phenotypes include a small left kidney and impaired renal function. The patient had a Xq28 deletion which included the whole FAM58A gene. The mother was mosaic for the deletion, and had a milder phenotype with normal renal ultrasound and renal function.Created: 4 May 2020, 3:02 p.m. | Last Modified: 4 May 2020, 3:02 p.m.
Panel Version: 1.76
PMID:18297069 (Unger et al., 2008) report 4 unrelated individuals with STAR syndrome and a mother-daughter pair previously reported. Renal anomalies were reported in cases 3,4,5,6 (including the mother-daughter pair). FAM58A variants included splice site variants (cases 2,5,6), heterozygous deletion (case 3) and a frameshift variant (case 4).Created: 4 May 2020, 3:01 p.m. | Last Modified: 4 May 2020, 3:01 p.m.
Panel Version: 1.76
Zornitza Stark (Australian Genomics)
XL-dominant disorder, multiple affected families reported, renal malformation are part of the phenotype. Note deletions and sequence variants reported.
Sources: Expert listCreated: 16 Jan 2020, 3:49 a.m.
Mode of inheritance
Other
Phenotypes
STAR syndrome, MIM# 300707
Publications
Variants in this GENE are reported as part of current diagnostic practice
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
- Phenotypes
-
- STAR syndrome, 300707
- Syndactyly, Telecanthus, Anogenital malformations and Renal malformations
- OMIM
- 300708
- Clinvar variants
- Variants in FAM58A
- Penetrance
- None
- Publications
- Panels with this gene
History Filter Activity
Entity classified by Genomics England curator
Rebecca Foulger (Genomics England curator)Gene: fam58a has been classified as Green List (High Evidence).
Set Phenotypes
Rebecca Foulger (Genomics England curator)Phenotypes for gene: FAM58A were changed from STAR syndrome, MIM# 300707 to STAR syndrome, 300707; Syndactyly, Telecanthus, Anogenital malformations and Renal malformations
Set mode of inheritance
Rebecca Foulger (Genomics England curator)Mode of inheritance for gene: FAM58A was changed from X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Set mode of inheritance
Rebecca Foulger (Genomics England curator)Mode of inheritance for gene: FAM58A was changed from Other to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes
Zornitza Stark (Australian Genomics)gene: FAM58A was added gene: FAM58A was added to CAKUT. Sources: Expert list Mode of inheritance for gene: FAM58A was set to Other Publications for gene: FAM58A were set to 28225384; 18297069 Phenotypes for gene: FAM58A were set to STAR syndrome, MIM# 300707 Review for gene: FAM58A was set to GREEN gene: FAM58A was marked as current diagnostic