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| Early onset or syndromic epilepsy v8.176 | OLA1 | Ida Ertmanska Phenotypes for gene: OLA1 were changed from Ehlers-Danlos syndrome, hypermobility type, MONDO:0007523; neurodevelopmental disorder,MONDO:0700092; microcephaly, MONDO:0001149 to Ehlers-Danlos syndrome, hypermobility type, MONDO:0007523; neurodevelopmental disorder, MONDO:0700092; microcephaly, MONDO:0001149 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Early onset or syndromic epilepsy v8.175 | OLA1 | Ida Ertmanska Classified gene: OLA1 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Early onset or syndromic epilepsy v8.175 | OLA1 | Ida Ertmanska Added comment: Comment on list classification: There are 6 unrelated individuals reported with biallelic OLA1 variants and early onset seizures. Hence, this gene should be promoted to Green on Early onset or syndromic epilepsy. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Early onset or syndromic epilepsy v8.175 | OLA1 | Ida Ertmanska Gene: ola1 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Early onset or syndromic epilepsy v8.174 | OLA1 |
Ida Ertmanska gene: OLA1 was added gene: OLA1 was added to Early onset or syndromic epilepsy. Sources: Literature Q2_26_promote_green tags were added to gene: OLA1. Mode of inheritance for gene: OLA1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: OLA1 were set to 41887223 Phenotypes for gene: OLA1 were set to Ehlers-Danlos syndrome, hypermobility type, MONDO:0007523; neurodevelopmental disorder,MONDO:0700092; microcephaly, MONDO:0001149 Review for gene: OLA1 was set to GREEN Added comment: PMID: 41887223 Alabdi et al., 2026 14 individuals from 9 families reported with homozygous loss of function variants in OLA1 with a phenotype characterised by a neurodevelopmental condition with connective tissue disorder. All 14 individuals presented with intellectual disability / psychomotor delay. Seizures were reported in 6 unrelated individuals. Joint hypermobility was noted in 13/13 patients, 5 of them had skin laxity. 6 individuals had scoliosis or kyphoscoliosis. Several patients were diagnosed with Ehlers-Danos syndrome. Microcephaly was noted in 4 individuals from unrelated families (severity details: -4.49 SD, -3SD, -4.6SD, and "HC 45cm at 9 years") Functional evidence: C. elegans model with knock-in protein-truncating variants showed behavioural abnormalities (reduced bending, no response to touch), and reduced axon numbers in GABAergic neurons. Variant in family 1 (p.Arg143Ter) was shown to cause complete loss of OLA1 protein on Western blot; RT-PCR was supportive of NMD taking place. Splice variant seen in Family 8 (c.728+5G>A) was demonstrated to cause exon 7 skipping. Sources: Literature |
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