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| Motor Neurone Disease v0.138 | RNF13 | Alison Yeung Marked gene: RNF13 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Motor Neurone Disease v0.138 | RNF13 | Alison Yeung Gene: rnf13 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Motor Neurone Disease v0.138 | RNF13 | Alison Yeung Classified gene: RNF13 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Motor Neurone Disease v0.138 | RNF13 | Alison Yeung Gene: rnf13 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Motor Neurone Disease v0.138 | RNF13 | Alison Yeung Classified gene: RNF13 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Motor Neurone Disease v0.138 | RNF13 | Alison Yeung Gene: rnf13 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Motor Neurone Disease v0.137 | RNF13 |
Melanie Marty changed review comment from: 3 x affected siblings with hom canonical splice variant. 2 x unaffected siblings het for the variant. RT-PCR showed expression of two mis-spliced forms of RNF13 mRNA (1 with a PTC and the other with an inframe del). Functional studies on patients cells showed an absence of protein. Sources: Literature; to: 3 x affected siblings with hom canonical splice variant. 2 x unaffected siblings het for the variant. RT-PCR showed expression of two mis-spliced forms of RNF13 mRNA (1 with a PTC and the other with an inframe del). Functional studies showed an absence of protein. Sources: Literature |
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| Motor Neurone Disease v0.137 | RNF13 |
Melanie Marty gene: RNF13 was added gene: RNF13 was added to Motor Neurone Disease. Sources: Literature Mode of inheritance for gene: RNF13 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: RNF13 were set to PMID: 35879052 Phenotypes for gene: RNF13 were set to Amyotrophic lateral sclerosis Review for gene: RNF13 was set to AMBER Added comment: 3 x affected siblings with hom canonical splice variant. 2 x unaffected siblings het for the variant. RT-PCR showed expression of two mis-spliced forms of RNF13 mRNA (1 with a PTC and the other with an inframe del). Functional studies on patients cells showed an absence of protein. Sources: Literature |
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