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| Congenital anomalies of the kidney and urinary tract (CAKUT) Syndromic v0.88 | WLS |
Teresa Zhao gene: WLS was added gene: WLS was added to Congenital anomalies of the kidney and urinary tract (CAKUT) Syndromic. Sources: Literature Mode of inheritance for gene: WLS was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: WLS were set to PMID: 34587386 Phenotypes for gene: WLS were set to Syndromic structural birth defects Review for gene: WLS was set to GREEN Added comment: - Homozygous mutations in 10 affected persons from 5 unrelated families. - Patients had multiorgan defects, including microcephal, facial dysmorphism, foot syndactyly, renal agenesis, alopecia, iris coloboma, and heart defects. - The mutations affected WLS protein stability and Wnt signaling. Knock-in mice showed tissue and cell vulnerability consistent with Wnt-signaling intensity and individual and collective functions of Wnts in embryogenesis. Sources: Literature |
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| Congenital anomalies of the kidney and urinary tract (CAKUT) Syndromic v0.76 | SON | Zornitza Stark Marked gene: SON as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Congenital anomalies of the kidney and urinary tract (CAKUT) Syndromic v0.76 | SON | Zornitza Stark Gene: son has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Congenital anomalies of the kidney and urinary tract (CAKUT) Syndromic v0.76 | SON | Zornitza Stark Classified gene: SON as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Congenital anomalies of the kidney and urinary tract (CAKUT) Syndromic v0.76 | SON | Zornitza Stark Gene: son has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Congenital anomalies of the kidney and urinary tract (CAKUT) Syndromic v0.75 | SON |
Zornitza Stark gene: SON was added gene: SON was added to Congenital anomalies of the kidney and urinary tract (CAKUT) Syndromic. Sources: Expert Review Mode of inheritance for gene: SON was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: SON were set to 27545680; 27545676; 31005274 Phenotypes for gene: SON were set to ZTTK syndrome, MIM# 617140 Review for gene: SON was set to GREEN Added comment: ZTTK syndrome is a severe multisystem developmental disorder characterised by intellectual disability, characteristic dysmorphic facial features, hypotonia, poor feeding, poor overall growth, and eye or visual abnormalities. Most individuals also have musculoskeletal abnormalities, and some have congenital defects of the heart and urogenital system. Brain imaging usually shows developmental abnormalities such as gyral changes, cortical and/or cerebellar atrophy, and thin corpus callosum. More than 40 unrelated individuals reported. Kidney anomalies are relatively common and include horseshoe kidney, unilateral renal hypoplasia, and renal cysts. Sources: Expert Review |
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| Congenital anomalies of the kidney and urinary tract (CAKUT) Syndromic v0.45 | FOXC2 | Chirag Patel commented on gene: FOXC2: 1 German-Irish family in which 6 affected members spanning 3 generations had lymphedema-distichiasis syndrome, and a 1-bp insertion in the FOXC2 gene. Four of the affected members also had renal disease, and 3 had type II diabetes mellitus, features not usually seen in lymphedema-distichiasis syndrome. The oldest affected member of the family was 73 years old at the time of report and was on chronic renal dialysis. One of her sons, aged 45 years, had developed proteinuria at age 32 years. Renal biopsy showed chronic sclerosing glomerulopathy and chronic tubulointerstitial nephritis. One member of the family underwent renal transplantation and, shortly thereafter, pancreatic transplantation, both with excellent results. She was 36 years old at the time of report and had distichiasis but no lymphedema. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Congenital anomalies of the kidney and urinary tract (CAKUT) Syndromic v0.45 | FOXC2 | Chirag Patel commented on gene: FOXC2: 1 German-Irish family in which 6 affected members spanning 3 generations had lymphedema-distichiasis syndrome, and a 1-bp insertion in the FOXC2 gene. Four of the affected members also had renal disease, and 3 had type II diabetes mellitus, features not usually seen in lymphedema-distichiasis syndrome. The oldest affected member of the family was 73 years old at the time of report and was on chronic renal dialysis. One of her sons, aged 45 years, had developed proteinuria at age 32 years. Renal biopsy showed chronic sclerosing glomerulopathy and chronic tubulointerstitial nephritis. One member of the family underwent renal transplantation and, shortly thereafter, pancreatic transplantation, both with excellent results. She was 36 years old at the time of report and had distichiasis but no lymphedema. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||