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  3. POLR3K
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Leukodystrophy - paediatric

Gene: POLR3K

Green List (high evidence)
POLR3K (RNA polymerase III subunit K)
EnsemblGeneIds (GRCh38): ENSG00000161980
EnsemblGeneIds (GRCh37): ENSG00000161980
OMIM: 606007, Gene2Phenotype
POLR3K is in 4 panels

2 reviews

Bryony Thompson (Royal Melbourne Hospital)

Green List (high evidence)

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: 3 Oct 2024, 11:11 p.m. | Last Modified: 3 Oct 2024, 11:11 p.m.
Panel Version: 0.310

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
POLR3-related leukodystrophy MONDO:0700282

Publications

Created: 3 Oct 2024, 11:11 p.m.
Last Modified: 3 Oct 2024, 11:11 p.m.
Panel version: 0.310

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

I don't know

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, 1:56 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Hypomyelinating leukodystrophy-21, MIM#619310

Publications

Created: 6 May 2021, 1:56 a.m.

Panel version: 0.219

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert Review
Phenotypes
  • POLR3-related leukodystrophy MONDO:0700282
Tags
founder
OMIM
606007
Clinvar variants
Variants in POLR3K
Penetrance
None
Publications
Panels with this gene

History Filter Activity

3 Oct 2024, Gel status: 3

Set publications

Bryony Thompson (Royal Melbourne Hospital)

Publications for gene: POLR3K were set to 30584594; 33659930

3 Oct 2024, Gel status: 3

Set Phenotypes

Bryony Thompson (Royal Melbourne Hospital)

Phenotypes for gene: POLR3K were changed from Hypomyelinating leukodystrophy-21, MIM#619310 to POLR3-related leukodystrophy MONDO:0700282

3 Oct 2024, Gel status: 3

Entity classified by Genomics England curator

Bryony Thompson (Royal Melbourne Hospital)

Gene: polr3k has been classified as Green List (High Evidence).

6 May 2021, Gel status: 2

Added Tag

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Tag founder tag was added to gene: POLR3K.

6 May 2021, Gel status: 2

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: polr3k has been classified as Amber List (Moderate Evidence).

6 May 2021, Gel status: 2

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: polr3k has been classified as Amber List (Moderate Evidence).

6 May 2021, Gel status: 1

Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: POLR3K was added gene: POLR3K was added to Leukodystrophy - paediatric. Sources: Expert Review Mode of inheritance for gene: POLR3K was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: POLR3K were set to 30584594; 33659930 Phenotypes for gene: POLR3K were set to Hypomyelinating leukodystrophy-21, MIM#619310 Review for gene: POLR3K was set to AMBER