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| Cerebral Palsy v1.389 | RNU7-1 | Zornitza Stark Tag non-coding gene tag was added to gene: RNU7-1. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cerebral Palsy v1.383 | RNU7-1 | Zornitza Stark Marked gene: RNU7-1 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cerebral Palsy v1.383 | RNU7-1 | Zornitza Stark Gene: rnu7-1 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cerebral Palsy v1.383 | RNU7-1 | Zornitza Stark Classified gene: RNU7-1 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cerebral Palsy v1.383 | RNU7-1 | Zornitza Stark Gene: rnu7-1 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cerebral Palsy v1.367 | RNU7-1 |
Clare van Eyk gene: RNU7-1 was added gene: RNU7-1 was added to Cerebral Palsy. Sources: Literature Mode of inheritance for gene: RNU7-1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: RNU7-1 were set to PMID: 39213953 Phenotypes for gene: RNU7-1 were set to Aicardi-Goutières syndrome 9, MIM#619487 Review for gene: RNU7-1 was set to AMBER Added comment: Two individuals with biallelic LP/P variants in RNU7-1 reported in a monocentric cohort study (PMID: 39213953). Both have recurrent RNU7-1 40_47DEL. One with spastic quadriplegia, epilepsy, DD, hypomyelination, cerebral atrophy, old ishemic lesions, calcifications on CT. Other with peripheral hypertonia, axial hypotonia, dystonia, calcifications, PVL, delayed myelination. Sources: Literature |
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