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| Motor Neurone Disease v2.11 | SFPQ | Zornitza Stark Marked gene: SFPQ as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Motor Neurone Disease v2.11 | SFPQ | Zornitza Stark Gene: sfpq has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Motor Neurone Disease v2.11 | SFPQ |
Zornitza Stark gene: SFPQ was added gene: SFPQ was added to Motor Neurone Disease. Sources: Literature Mode of inheritance for gene: SFPQ was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: SFPQ were set to 28392072 Phenotypes for gene: SFPQ were set to Amyotrophic lateral sclerosis, MONDO:0004976, SFPQ-related Review for gene: SFPQ was set to RED Added comment: Reports two individuals from unrelated families with heterozygous missense SFPQ variants (NM_005066:c.1597A>C and NM_005066:c.1600C>A) presenting with familial amyotrophic lateral sclerosis (ALS). Variants are present at low levels in gnomAD. Each variant was tested in a zebrafish null‑mutant rescue assay, showing reduced axonal SFPQ localisation and abnormal motor‑axon morphology, while wild‑type SFPQ fully rescues. No segregation data were available. RED rating due to lack of segregation and pop frequency. Not replicated over time so far. Sources: Literature |
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