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| Mendeliome v1.4672 | ASAH2 | Zornitza Stark Marked gene: ASAH2 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v1.4672 | ASAH2 | Zornitza Stark Gene: asah2 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v1.4672 | ASAH2 |
Zornitza Stark gene: ASAH2 was added gene: ASAH2 was added to Mendeliome. Sources: Literature Mode of inheritance for gene: ASAH2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: ASAH2 were set to 41808410 Phenotypes for gene: ASAH2 were set to Neurodevelopmental disorder, MONDO:0700092 Review for gene: ASAH2 was set to RED Added comment: PMID 41808410 reports a single individual with biallelic loss-of-function (hypomorphic) missense variants presenting with a childhood-onset neurodevelopmental disorder characterized by cognitive impairment, neuropathy, ophthalmoplegia, and progressive cerebellar and extraocular muscle atrophy. Drosophila functional assays demonstrate reduced ASAH2 transcript and protein levels and neuromotor deficits, supporting loss-of-function. Sources: Literature |
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