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  3. POLR1B
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Skeletal dysplasia

Gene: POLR1B

Green List (high evidence)
POLR1B (RNA polymerase I subunit B)
EnsemblGeneIds (GRCh38): ENSG00000125630
EnsemblGeneIds (GRCh37): ENSG00000125630
OMIM: 602000, Gene2Phenotype
POLR1B is in 5 panels

2 reviews

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

Five unrelated families and a zebrafish model, variant inherited in two of the families, once from affected parent and once from mosaic parent. Note four of the families had missense variants affecting same residue, p.Arg1003
Sources: Literature
Created: 21 Apr 2020, 12:23 a.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Treacher-Collins syndrome type 4

Publications

Created: 21 Apr 2020, 12:23 a.m.

Panel version: 0.18

Paul De Fazio (Victorian Clinical Genetics Services)

I don't know

6 individuals with Treacher-Collins syndrome described: 3 with de novo variants, one inherited from a mosaic father, and two inherited from affected mothers. Knockdown in zebrafish mimics the phenotype.
Sources: Literature
Created: 20 Apr 2020, 5:53 a.m. | Last Modified: 20 Apr 2020, 5:55 a.m.
Panel Version: 0.2439

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
bilateral malar and mandibular hypoplasia; microtia; coloboma; downslanting palpebral fissures; conductive deafness; cleft palate; heart malformations

Publications

Variants in this GENE are reported as part of current diagnostic practice

Created: 20 Apr 2020, 5:53 a.m.
Last Modified: 20 Apr 2020, 5:55 a.m.
Panel version: Imported from Mendeliome panel version 0.2439

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Treacher-Collins syndrome type 4
OMIM
602000
Clinvar variants
Variants in POLR1B
Penetrance
None
Publications
Panels with this gene

History Filter Activity

21 Apr 2020, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: polr1b has been classified as Green List (High Evidence).

21 Apr 2020, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: polr1b has been classified as Green List (High Evidence).

21 Apr 2020, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: polr1b has been classified as Green List (High Evidence).

21 Apr 2020, Gel status: 1

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

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: POLR1B was added gene: POLR1B was added to Skeletal dysplasia. Sources: Literature Mode of inheritance for gene: POLR1B was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: POLR1B were set to 31649276 Phenotypes for gene: POLR1B were set to Treacher-Collins syndrome type 4 Review for gene: POLR1B was set to GREEN