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| Congenital anomalies of the kidney and urinary tract (CAKUT) Syndromic v0.74 | FOXC1 | Zornitza Stark Marked gene: FOXC1 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Congenital anomalies of the kidney and urinary tract (CAKUT) Syndromic v0.74 | FOXC1 | Zornitza Stark Added comment: Comment when marking as ready: Appears to be a distinct association but I agree, the pathogenicity of the variants is not firmly established. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Congenital anomalies of the kidney and urinary tract (CAKUT) Syndromic v0.74 | FOXC1 | Zornitza Stark Gene: foxc1 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Congenital anomalies of the kidney and urinary tract (CAKUT) Syndromic v0.74 | FOXC1 | Zornitza Stark Marked gene: FOXC1 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Congenital anomalies of the kidney and urinary tract (CAKUT) Syndromic v0.74 | FOXC1 | Zornitza Stark Gene: foxc1 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Congenital anomalies of the kidney and urinary tract (CAKUT) Syndromic v0.74 | FOXC1 | Zornitza Stark Phenotypes for gene: FOXC1 were changed from to Congenital anomalies of the kidney and urinary tract (CAKUT) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Congenital anomalies of the kidney and urinary tract (CAKUT) Syndromic v0.73 | FOXC1 | Zornitza Stark Publications for gene: FOXC1 were set to 32475988 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Congenital anomalies of the kidney and urinary tract (CAKUT) Syndromic v0.72 | FOXC1 | Zornitza Stark Publications for gene: FOXC1 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Congenital anomalies of the kidney and urinary tract (CAKUT) Syndromic v0.71 | FOXC1 | Zornitza Stark Mode of inheritance for gene: FOXC1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Congenital anomalies of the kidney and urinary tract (CAKUT) Syndromic v0.70 | FOXC1 | Chirag Patel Classified gene: FOXC1 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Congenital anomalies of the kidney and urinary tract (CAKUT) Syndromic v0.70 | FOXC1 | Chirag Patel Gene: foxc1 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Congenital anomalies of the kidney and urinary tract (CAKUT) Syndromic v0.69 | FOXC1 |
Chirag Patel edited their review of gene: FOXC1: Added comment: Seven FOXC1 'pathogenic' variants in 8 CAKUT families identified through WES. All individuals carrying the FOXC1 pathogenic variants are heterozygote. There was incomplete penetrance and variable expressivity in families. None of the 7 pathogenic variants were reported before in patients with Axenfeld–Rieger syndrome, anterior segment dysgenesis, or congenital glaucoma. Two of the seven pathogenic variants are novel, i.e., they were never observed in the population database before, including the gnomAD database that collects 141,456 control individuals.34 The other five pathogenic variants, though reported in the population database, are present in less than five individuals as a heterozygote. The locations of these pathogenic variants do not cluster in the forkhead domain (where variants causing Axenfeld–Rieger syndrome or anterior segment dysgenesis are located). NB they call them pathogenic - but no documentation of ACMG criteria used. Previous animal studies show CAKUT in homozygous and heterozygous mice.; Changed rating: AMBER; Changed publications: PMID: 32475988; Changed phenotypes: Congenital anomalies of the kidney and urinary tract (CAKUT); Changed mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted |
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| Congenital anomalies of the kidney and urinary tract (CAKUT) Syndromic v0.3 | FOXC1 | Zornitza Stark Marked gene: FOXC1 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Congenital anomalies of the kidney and urinary tract (CAKUT) Syndromic v0.3 | FOXC1 | Zornitza Stark Gene: foxc1 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Congenital anomalies of the kidney and urinary tract (CAKUT) Syndromic v0.3 | FOXC1 | Zornitza Stark Classified gene: FOXC1 as Red List (low evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Congenital anomalies of the kidney and urinary tract (CAKUT) Syndromic v0.3 | FOXC1 | Zornitza Stark Gene: foxc1 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Congenital anomalies of the kidney and urinary tract (CAKUT) Syndromic v0.0 | FOXC1 | Chirag Patel reviewed gene: FOXC1: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Congenital anomalies of the kidney and urinary tract (CAKUT) Syndromic v0.0 | FOXC1 |
Zornitza Stark gene: FOXC1 was added gene: FOXC1 was added to Congenital anomalies of the kidney and urinary tract (CAKUT) Syndromic_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: FOXC1 was set to Unknown |
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