| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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| Intellectual disability syndromic and non-syndromic v0.6702 | POLR3K | Ain Roesley Marked gene: POLR3K as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.6702 | POLR3K | Ain Roesley Gene: polr3k has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.6387 | POLR3K | Bryony Thompson Classified gene: POLR3K as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.6387 | POLR3K | Bryony Thompson Gene: polr3k has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.6386 | POLR3K |
Bryony Thompson gene: POLR3K was added gene: POLR3K was added to Intellectual disability syndromic and non-syndromic. Sources: Literature Mode of inheritance for gene: POLR3K was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: POLR3K were set to https://doi.org/10.1155/2024/8807171; 30584594 Phenotypes for gene: POLR3K were set to POLR3-related leukodystrophy MONDO:0700282 Review for gene: POLR3K was set to GREEN Added comment: 3 apparently unrelated cases (1 compound het & 2 homozygous for the same missense & supporting functional assays) with phenotypes consistent with POLR3-related leukodystrophy which includes ID and DD as part of the phenotype. Sources: Literature |
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