CAKUT
Gene: FAM58AComment 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
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
Gene: fam58a has been classified as Green List (High Evidence).
Phenotypes for gene: FAM58A were changed from STAR syndrome, MIM# 300707 to STAR syndrome, 300707; Syndactyly, Telecanthus, Anogenital malformations and Renal malformations
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)
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)
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