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| CAKUT v1.80 | FAM58A | Rebecca Foulger Classified gene: FAM58A as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| CAKUT v1.80 | FAM58A | Rebecca Foulger Added comment: 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. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| CAKUT v1.80 | FAM58A | Rebecca Foulger Gene: fam58a has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| CAKUT v1.79 | FAM58A | Rebecca Foulger Phenotypes for gene: FAM58A were changed from STAR syndrome, MIM# 300707 to STAR syndrome, 300707; Syndactyly, Telecanthus, Anogenital malformations and Renal malformations | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| CAKUT v1.78 | FAM58A | Rebecca Foulger Added comment: Comment on mode of inheritance: Set MOI to XLD to match literature (PMID:28225384, PMID:18297069). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| CAKUT v1.78 | FAM58A | Rebecca Foulger 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) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| CAKUT v1.77 | FAM58A | Rebecca Foulger 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) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| CAKUT v1.76 | FAM58A | Rebecca Foulger commented on gene: FAM58A: 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. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| CAKUT v1.76 | FAM58A | Rebecca Foulger commented on gene: FAM58A | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| CAKUT v1.41 | FAM58A |
Zornitza Stark 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 Added comment: XL-dominant disorder, multiple affected families reported, renal malformation are part of the phenotype. Note deletions and sequence variants reported. Sources: Expert list |
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