| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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| Congenital anomalies of the kidney and urinary tract (CAKUT) Syndromic v0.123 | AGTR1 | Chirag Patel Classified gene: AGTR1 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Congenital anomalies of the kidney and urinary tract (CAKUT) Syndromic v0.123 | AGTR1 | Chirag Patel Gene: agtr1 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Congenital anomalies of the kidney and urinary tract (CAKUT) Syndromic v0.122 | AGTR1 | Chirag Patel Classified gene: AGTR1 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Congenital anomalies of the kidney and urinary tract (CAKUT) Syndromic v0.122 | AGTR1 | Chirag Patel Gene: agtr1 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Congenital anomalies of the kidney and urinary tract (CAKUT) Syndromic v0.121 | AGTR1 |
Chirag Patel gene: AGTR1 was added gene: AGTR1 was added to Congenital anomalies of the kidney and urinary tract (CAKUT) Syndromic. Sources: Expert list Mode of inheritance for gene: AGTR1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: AGTR1 were set to PMID: 16116425 Phenotypes for gene: AGTR1 were set to Renal tubular dysgenesis, MIM# 267430 Review for gene: AGTR1 was set to GREEN Added comment: Three unrelated families reported. Autosomal recessive renal tubular dysgenesis is a severe disorder of renal tubular development characterized by persistent fetal anuria and perinatal death, probably due to pulmonary hypoplasia from early-onset oligohydramnios. Absence or paucity of differentiated proximal tubules is the histopathologic hallmark of the disorder and may be associated with skull ossification defects. Sources: Expert list |
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| Congenital anomalies of the kidney and urinary tract (CAKUT) Syndromic v0.120 | AGT | Chirag Patel Classified gene: AGT as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Congenital anomalies of the kidney and urinary tract (CAKUT) Syndromic v0.120 | AGT | Chirag Patel Gene: agt has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Congenital anomalies of the kidney and urinary tract (CAKUT) Syndromic v0.119 | AGT |
Chirag Patel gene: AGT was added gene: AGT was added to Congenital anomalies of the kidney and urinary tract (CAKUT) Syndromic. Sources: Expert list Mode of inheritance for gene: AGT was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: AGT were set to PMID: 16116425, 34234805, 33163725 Phenotypes for gene: AGT were set to Renal tubular dysgenesis, MIM# 267430 Review for gene: AGT was set to GREEN Added comment: Well established gene-disease association, more than 10 unrelated families reported. Autosomal recessive renal tubular dysgenesis is a severe disorder of renal tubular development characterized by persistent fetal anuria and perinatal death, probably due to pulmonary hypoplasia from early-onset oligohydramnios. Absence or paucity of differentiated proximal tubules is the histopathologic hallmark of the disorder and may be associated with skull ossification defects. Sources: Expert list |
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