GMS Musculoskeletal specialist test group Skeletal dysplasia
Gene: POLR1D

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

1 review

Tracy Lester (Genetics laboratory, Oxford UK)

Green List (high evidence)

Dysostoses with predominant craniofacial involvement gp of SD >3 cases. Do you report variants in this gene as part of your current diagnostic practice? - YES for TCS; Review on behalf of Tracy Lester
Created: 6 Mar 2019, 11:52 a.m.

Mode of inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal

Phenotypes
Treacher Collins syndrome 2 613717

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

Created: 6 Mar 2019, 11:52 a.m.

Panel version: 0.2

Details

Mode of Inheritance

BOTH monoallelic and biallelic, autosomal or pseudoautosomal

Sources

Expert Review Green
NHS GMS

Phenotypes

Treacher Collins syndrome 2 613717

OMIM

613715

Clinvar variants

Variants in POLR1D

Penetrance

None

Panels with this gene

History Filter Activity

6 Mar 2019, Gel status: 4

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

Eleanor Williams (Genomics England Curator)

gene: POLR1D was added gene: POLR1D was added to GMS Musculoskeletal specialist test group Skeletal dysplasia. Sources: NHS GMS,Expert Review Green Mode of inheritance for gene: POLR1D was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Phenotypes for gene: POLR1D were set to Treacher Collins syndrome 2 613717

GMS Musculoskeletal specialist test group Skeletal dysplasia Gene: POLR1D