Congenital anomalies of the kidney and urinary tract (CAKUT) Syndromic
Gene: FAM58A

FAM58A (cyclin Q)
EnsemblGeneIds (GRCh38): ENSG00000262919
OMIM: 300708, Gene2Phenotype
FAM58A is in 7 panels

2 reviews

Bryony Thompson (Royal Melbourne Hospital)

Green List (high evidence)

At least 13 females from 9 families reported. STAR syndrome is an X-linked dominant condition characterised by toe Syndactyly, Telecanthus, Anogenital malformations, and Renal malformations. Both copy number changes and single nucleotide variants reported. No affected males have been reported and are expected to be embryonic lethal. Current gene symbol is CCNQ.
Created: 20 Apr 2022, 3:47 a.m. | Last Modified: 20 Apr 2022, 3:47 a.m.

Panel Version: 0.13100

Mode of inheritance
Other

Phenotypes
syndactyly-telecanthus-anogenital and renal malformations syndrome MONDO:0010408

Publications

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

Created: 20 Apr 2022, 3:47 a.m.
Last Modified: 20 Apr 2022, 3:47 a.m.
Panel version: Imported from Mendeliome panel version 0.13100

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

XL-dominant disorder, multiple affected families reported, renal malformation are part of the phenotype. Note deletions and sequence variants reported.
Created: 16 Jan 2020, 3:49 a.m. | Last Modified: 16 Jan 2020, 3:49 a.m.

Panel Version: 0.40

Mode of inheritance
Other

Phenotypes
STAR syndrome, MIM# 300707

Publications

Created: 16 Jan 2020, 3:49 a.m.
Last Modified: 16 Jan 2020, 3:49 a.m.
Panel version: 0.40

Details

Mode of Inheritance

Other

Sources

Expert Review Green
Expert Review Green
Victorian Clinical Genetics Services

Phenotypes

STAR syndrome, MIM# 300707

OMIM

300708

Clinvar variants

Variants in FAM58A

Penetrance

None

Publications

Panels with this gene