| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Cerebral Palsy v1.384 | RTN4IP1 | Zornitza Stark Marked gene: RTN4IP1 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cerebral Palsy v1.384 | RTN4IP1 | Zornitza Stark Gene: rtn4ip1 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cerebral Palsy v1.384 | RTN4IP1 | Zornitza Stark Classified gene: RTN4IP1 as Red List (low evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cerebral Palsy v1.384 | RTN4IP1 | Zornitza Stark Gene: rtn4ip1 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cerebral Palsy v1.367 | RTN4IP1 |
Clare van Eyk gene: RTN4IP1 was added gene: RTN4IP1 was added to Cerebral Palsy. Sources: Literature Mode of inheritance for gene: RTN4IP1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: RTN4IP1 were set to PMID: 39213953 Phenotypes for gene: RTN4IP1 were set to Optic atrophy 10 with or without ataxia, impaired intellectual development, and seizures, MIM#616732 Review for gene: RTN4IP1 was set to RED Added comment: Single individual with biallelic variants in RTN4IP1 reported in a monocentric cohort study (PMID: 39213953). Clinically, ataxia, axial hypotonia, DD, epilepsy, nystagmus, opticus neuropathy, dysmorphic features. Sources: Literature |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||