| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Congenital anomalies of the kidney and urinary tract (CAKUT) Syndromic v0.134 | ACE | Zornitza Stark Marked gene: ACE as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Congenital anomalies of the kidney and urinary tract (CAKUT) Syndromic v0.134 | ACE | Zornitza Stark Gene: ace has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Congenital anomalies of the kidney and urinary tract (CAKUT) Syndromic v0.134 | ACE | Zornitza Stark Deleted their review | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Congenital anomalies of the kidney and urinary tract (CAKUT) Syndromic v0.118 | ACE | Chirag Patel Classified gene: ACE as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Congenital anomalies of the kidney and urinary tract (CAKUT) Syndromic v0.118 | ACE | Chirag Patel Gene: ace has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Congenital anomalies of the kidney and urinary tract (CAKUT) Syndromic v0.117 | ACE |
Chirag Patel gene: ACE was added gene: ACE was added to Congenital anomalies of the kidney and urinary tract (CAKUT) Syndromic. Sources: Expert list Mode of inheritance for gene: ACE was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: ACE were set to PMID: 16116425, 22095942 Phenotypes for gene: ACE were set to Renal tubular dysgenesis, MIM# 267430 Review for gene: ACE was set to GREEN Added comment: 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. More than 60 families reported. Sources: Expert list |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Congenital anomalies of the kidney and urinary tract (CAKUT) Syndromic v0.67 | HSPA9 |
Zornitza Stark gene: HSPA9 was added gene: HSPA9 was added to Congenital anomalies of the kidney and urinary tract (CAKUT) Syndromic. Sources: Literature Mode of inheritance for gene: HSPA9 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: HSPA9 were set to 26598328; 32869452 Phenotypes for gene: HSPA9 were set to Even-plus syndrome, MIM# 616854; skeletal anomalies; congenital cardiac and renal anomalies: marked small nose Review for gene: HSPA9 was set to GREEN Added comment: Biallelic variants in 4 individuals from 5 families. Significant skeletal features and marked nasal hypoplasia with mid-face hypoplasia. 2/5 with developmental delay and abnormalities of the corpus callosum 4/5 with congenital heart disease Sources: Literature |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||