| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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| Congenital diaphragmatic hernia v0.20 | RLIM | Zornitza Stark Marked gene: RLIM as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Congenital diaphragmatic hernia v0.20 | RLIM | Zornitza Stark Gene: rlim has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Congenital diaphragmatic hernia v0.20 | RLIM | Zornitza Stark Classified gene: RLIM as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Congenital diaphragmatic hernia v0.20 | RLIM | Zornitza Stark Gene: rlim has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Congenital diaphragmatic hernia v0.19 | RLIM |
Zornitza Stark gene: RLIM was added gene: RLIM was added to Congenital diaphragmatic hernia. Sources: Expert list Mode of inheritance for gene: RLIM was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Publications for gene: RLIM were set to 29728705; 25735484; 25644381 Phenotypes for gene: RLIM were set to Tonne-Kalscheuer syndrome, MIM# 300978 Review for gene: RLIM was set to GREEN Added comment: Eight unrelated families and a zebrafish model. Most individuals exhibit global developmental delay apparent from early infancy, impaired intellectual development, speech delay, behavioural abnormalities, and abnormal gait. Affected individuals also have dysmorphic facial features that evolve with age, anomalies of the hands, feet, and nails, and urogenital abnormalities with hypogenitalism. A subset of more severely affected males develop congenital diaphragmatic hernia in utero, which may result in perinatal or premature death. Carrier females may have very mild skeletal or hormonal abnormalities Sources: Expert list |
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