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Fetal anomalies

Gene: POLR1B

Green List (high evidence)
POLR1B (RNA polymerase I subunit B)
EnsemblGeneIds (GRCh38): ENSG00000125630
EnsemblGeneIds (GRCh37): ENSG00000125630
OMIM: 602000, Gene2Phenotype
POLR1B is in 3 panels

2 reviews

Arina Puzriakova (Genomics England Curator)

The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Created: 3 Mar 2022, 11:19 a.m. | Last Modified: 3 Mar 2022, 11:19 a.m.
Panel Version: 1.836
Comment on list classification: Following curation and clinical review it has been agreed that the associated phenotype is fetally-relevant and therefore this gene should be promoted to Green at the next GMS panel update (added 'Q4_21_rating' tag)
Created: 3 Nov 2021, 2:58 p.m. | Last Modified: 3 Nov 2021, 2:58 p.m.
Panel Version: 1.778
Created: 3 Nov 2021, 2:58 p.m.
Last Modified: 3 Nov 2021, 2:58 p.m.
Panel version: 1.836

Rhiannon Mellis (Great Ormond Street Hospital)

Green List (high evidence)

This gene and phenotype were reviewed during a meeting on 21st October 2021 between representatives of the North Thames and Central & South R21 testing GLHs.

Clinical review and curation was performed by Lyn Chitty, Alison Male, Rowenna Roberts, Rhiannon Mellis (North Thames GLH) and Stephanie Allen, Denise Williams and Esther Kinning (Central & South GLH).

Outcome of review: Confirmed that the phenotype is fetally relevant, support adding to the Fetal anomalies panel as a Green gene.

Already flagged for upgrade to Green on the following other PanelApp panel(s): Clefting, Skeletal dysplasias

Details of review:
PMID: 31649276 - Sanchez et al 2020 - using exome sequencing identified 6 patients (5 unrelated families) with Treacher Collins syndrome with heterozygous missense variants in POLR1B.
Sources: Expert Review, Literature
Created: 29 Oct 2021, 3:52 p.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Treacher-Collins syndrome 4

Publications

Created: 29 Oct 2021, 3:52 p.m.

Panel version: 1.749

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
Phenotypes
  • Treacher-Collins syndrome 4 OMIM:618939
OMIM
602000
Clinvar variants
Variants in POLR1B
Penetrance
None
Publications
Panels with this gene

History Filter Activity

3 Mar 2022, Gel status: 3

Removed Tag

Arina Puzriakova (Genomics England Curator)

Tag Q4_21_rating was removed from gene: POLR1B.

3 Mar 2022, Gel status: 3

Added New Source, Status Update

Arina Puzriakova (Genomics England Curator)

Source Expert Review Green was added to POLR1B. Rating Changed from Amber List (moderate evidence) to Green List (high evidence)

3 Nov 2021, Gel status: 2

Set publications

Arina Puzriakova (Genomics England Curator)

Publications for gene: POLR1B were set to PMID: 31649276

3 Nov 2021, Gel status: 2

Set Phenotypes

Arina Puzriakova (Genomics England Curator)

Phenotypes for gene: POLR1B were changed from Treacher-Collins syndrome 4 to Treacher-Collins syndrome 4 OMIM:618939

3 Nov 2021, Gel status: 2

Entity classified by Genomics England curator

Arina Puzriakova (Genomics England Curator)

Gene: polr1b has been classified as Amber List (Moderate Evidence).

3 Nov 2021, Gel status: 0

Added Tag

Arina Puzriakova (Genomics England Curator)

Tag Q4_21_rating tag was added to gene: POLR1B.

29 Oct 2021, Gel status: 0

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

Rhiannon Mellis (Great Ormond Street Hospital)

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