Clefting
Gene: POLR1DThe 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
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
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
TREACHER COLLINS SYNDROME 2; TCS2
Mode of inheritance for gene POLR1D was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes for gene: POLR1D were changed from TREACHER COLLINS SYNDROME 2; TCS2 to Treacher Collins syndrome 2, OMIM:613717
Panel reviews were assessed, and panel was revised according to reviews and further curation 31st May 2017
POLR1D was added to Cleftingpanel. Sources: Expert Review Green
POLR1D was created by ellenmcdonagh