Regression

Gene: POLR3K

Green List (high evidence)

https://doi.org/10.1155/2024/8807171: Additional compound het case (c.322G>T; p.D108Y and large deletion, spanning approximately 17.8 kb from chr16:30,362-48,162) reported a phenotype consistent with POLR3-related leukodystrophy. Reduced POLR3K RNA expressed in the patient compared to controls. Now 3 cases with paediatric onset have been reported with supporting functional evidence and similar phenotypes to the orthologous POLR3 genes.

Created: 5 Oct 2024, 11:29 a.m. | Last Modified: 5 Oct 2024, 11:31 a.m.

Panel Version: 0.565

Two individuals from same ethnic background reported with a common homozygous missense variant in this gene, suggestive of founder effect. Some functional evidence, and note other gene family members are linked to similar phenotypes. Neurodegenerative phenotype: global developmental delay apparent from infancy with loss of motor, speech, and cognitive milestones in the first decades of life.
Sources: Expert Review

Created: 6 May 2021, 2:05 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Hypomyelinating leukodystrophy-21, MIM#619310

Publications

• 30584594
• 33659930
• 30584594