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| Intellectual disability - microarray and sequencing v3.1519 | VPS11 | Ivone Leong Tag Q2_21_rating was removed from gene: VPS11. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability - microarray and sequencing v3.1519 | VPS11 | Sarah Leigh commented on gene: VPS11 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability - microarray and sequencing v3.1519 | VPS11 |
Ivone Leong Source Expert Review Green was added to VPS11. Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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| Intellectual disability - microarray and sequencing v3.1066 | VPS11 | Ivone Leong commented on gene: VPS11 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability - microarray and sequencing v3.1066 | VPS11 |
Ivone Leong Tag watchlist was removed from gene: VPS11. Tag Q2_21_rating tag was added to gene: VPS11. |
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| Intellectual disability - microarray and sequencing v2.981 | VPS11 | Catherine Snow Tag watchlist tag was added to gene: VPS11. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability - microarray and sequencing v2.978 | VPS11 |
Catherine Snow Source Expert Review was added to VPS11. Source Expert Review Amber was added to VPS11. Added phenotypes Leukodystrophy, hypomyelinating, 12, 616683 for gene: VPS11 Publications for gene VPS11 were changed from 27120463; 26307567; 27473128 to 27473128; 26307567; 27120463 Rating Changed from No List (delete) to Amber List (moderate evidence) |
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| Intellectual disability - microarray and sequencing v2.584 | VPS11 |
Konstantinos Varvagiannis gene: VPS11 was added gene: VPS11 was added to Intellectual disability. Sources: Literature,Radboud University Medical Center, Nijmegen Mode of inheritance for gene: VPS11 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: VPS11 were set to 27120463; 26307567; 27473128 Phenotypes for gene: VPS11 were set to Leukodystrophy, hypomyelinating, 12 (MIM 616683) Penetrance for gene: VPS11 were set to Complete Review for gene: VPS11 was set to GREEN gene: VPS11 was marked as current diagnostic Added comment: Biallelic mutations in VPS11 cause Leukodystrophy, hypomyelinating, 12 (MIM 616683). PMIDs: 27120463, 26307567, 27473128 all report on this disorder. The phenotype consists of global DD, ID, (variable) acquired microcephaly with hypomyelination upon brain MRI. Seizures appear to be a feature in several individuals. Almost all individuals appear to be of Ashkenazi Jewish descent, homozygous for a founder mutation (NM_021729.5:c.2536T>G or p.Cys846Gly). PMIDs: 27120463 and 26307567 report on 13 individuals from 7 Ashkenazi families. A second variant (p.Leu387_Gly395del) was however found in the homozygous state in 2 sibs born to consanguineous parents. Pathogenicity is supported by extensive functional studies in all relevant articles. VPS11 is not associated with any phenotype in G2P. The gene is included in gene panels for ID offered by diagnostic laboratories (incl. Radboudumc). As a result, this gene can be considered for inclusion in this panel as green. [Please consider inclusion in the lysosomal disorders panel as well as in the undiagnosed metabolic disorders panel]. Sources: Literature, Radboud University Medical Center, Nijmegen |
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