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| Ataxia v2.155 | NGLY1 |
Bryony Thompson gene: NGLY1 was added gene: NGLY1 was added to Ataxia. Sources: Literature Mode of inheritance for gene: NGLY1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: NGLY1 were set to 38070824; 32395402; 29997391 Phenotypes for gene: NGLY1 were set to congenital disorder of deglycosylation 1, MONDO:0800044 Review for gene: NGLY1 was set to GREEN Added comment: PMID 32395402 reports 1 family with a homozygous frameshift (c.1891del) causing NGLY1 deficiency, presenting with developmental delay, hyperkinetic movement disorder, ataxia, hypo/alacrima and elevated transaminases. PMID 29997391 describes two unrelated families (Morocco and Tunisia) homozygous for the missense p.Asp597Asn variant, whose core phenotype includes congenital non‑progressive cerebellar ataxia and neurodevelopmental delay. PMID 38070824 adds a compound‑heterozygous family with a start‑codon deletion and a missense p.C286Y variant, showing progressive myoclonic epilepsy, ataxia and cerebellar atrophy. Across the three studies, four families out of nine are reported with ataxia. Sources: Literature |
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