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  3. POLR1D
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Clefting

Gene: POLR1D

Green List (high evidence)
POLR1D (RNA polymerase I subunit D)
EnsemblGeneIds (GRCh38): ENSG00000186184
EnsemblGeneIds (GRCh37): ENSG00000186184
OMIM: 613715, Gene2Phenotype
POLR1D is in 8 panels

3 reviews

Arina Puzriakova (Genomics England Curator)

The recent MOI update on this panel was done following an audit of genes with different MOIs on component panels of the same superpanel. These were reviewed by the curation team accounting for respective panel scope and final MOIs were validated by the Genomics England clinical team.
Created: 3 Aug 2022, 3:21 p.m. | Last Modified: 3 Aug 2022, 3:21 p.m.
Panel Version: 2.69
Created: 3 Aug 2022, 3:21 p.m.
Last Modified: 3 Aug 2022, 3:21 p.m.
Panel version: 2.69

Eleanor Williams (Genomics England Curator)

The mode of inheritance of this gene has been updated following NHS Genomic Medicine Service approval.
Created: 5 Mar 2022, 5:14 p.m. | Last Modified: 5 Mar 2022, 5:14 p.m.
Panel Version: 2.65
Created: 5 Mar 2022, 5:14 p.m.
Last Modified: 5 Mar 2022, 5:14 p.m.
Panel version: 2.65

Helen Brittain (Genomics England Curator)

Green List (high evidence)

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

Phenotypes
TREACHER COLLINS SYNDROME 2; TCS2

Created: 26 May 2017, 7:40 a.m.

Panel version: 0.193

Details

Mode of Inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Treacher Collins syndrome 2, OMIM:613717
OMIM
613715
Clinvar variants
Variants in POLR1D
Penetrance
Complete
Panels with this gene

History Filter Activity

5 Mar 2022, Gel status: 3

Set mode of inheritance

Eleanor Williams (Genomics England Curator)

Mode of inheritance for gene POLR1D was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal

10 Feb 2022, Gel status: 3

Set Phenotypes

Arina Puzriakova (Genomics England Curator)

Phenotypes for gene: POLR1D were changed from TREACHER COLLINS SYNDROME 2; TCS2 to Treacher Collins syndrome 2, OMIM:613717

31 May 2017, Gel status: 4

panel promoted to version 1

Louise Daugherty (Genomics England Curator)

Panel reviews were assessed, and panel was revised according to reviews and further curation 31st May 2017

26 May 2017, Gel status: 4

Added New Source

Ellen McDonagh (Genomics England Curator)

POLR1D was added to Cleftingpanel. Sources: Expert Review Green

26 May 2017, Gel status: 0

Created

Ellen McDonagh (Genomics England Curator)

POLR1D was created by ellenmcdonagh