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| Severe microcephaly v8.43 | OLA1 |
Ida Ertmanska Tag Q1_26_promote_green was removed from gene: OLA1. Tag Q2_26_promote_green tag was added to gene: OLA1. |
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| Severe microcephaly v8.43 | OLA1 |
Ida Ertmanska changed review comment from: 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 unrelated 6 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. Severe / borderline severe microcephaly was noted in 6 individuals from 4 unrelated families (severity details: -4.49 SD, -4.6SD, -2.5SD, -2.54SD, and 2 microcephalic sibs in Family 8 with HC 46cm at 10 years & 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; to: 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 unrelated 6 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. Severe / borderline severe microcephaly was noted in 6 individuals from 4 unrelated families (severity details: -4.49 SD, -4.6SD, -2.5SD, -2.54SD, and 2 microcephalic sibs in Family 8 with HC 46cm at 10 years & HC 45cm at 9 years - both estimated to be under -3SD based on PMID: 20304425) 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. OLA1 is not yet associated with a phenotype in OMIM (accessed 1st April 2026). Sources: Literature |
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| Severe microcephaly v8.43 | OLA1 | Ida Ertmanska Classified gene: OLA1 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Severe microcephaly v8.43 | OLA1 | Ida Ertmanska Added comment: Comment on list classification: In a cohort of 14 patients with biallelic OLA1 variants, there are 2 patients reported with severe microcephaly, 2 with likely severe microcephaly, and 2 others with borderline severe microcephaly. Hence, this gene should be promoted to Green at the next update. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Severe microcephaly v8.43 | OLA1 | Ida Ertmanska Gene: ola1 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Severe microcephaly v8.42 | OLA1 |
Ida Ertmanska changed review comment from: 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 unrelated 6 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; to: 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 unrelated 6 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. Severe / borderline severe microcephaly was noted in 6 individuals from 4 unrelated families (severity details: -4.49 SD, -4.6SD, -2.5SD, -2.54SD, and 2 microcephalic sibs in Family 8 with HC 46cm at 10 years & 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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| Severe microcephaly v8.42 | OLA1 |
Ida Ertmanska gene: OLA1 was added gene: OLA1 was added to Severe microcephaly. Sources: Literature Q1_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 unrelated 6 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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