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Fetal anomalies

Gene: POLR3A

Green List (high evidence)

POLR3A (RNA polymerase III subunit A)
EnsemblGeneIds (GRCh38): ENSG00000148606
EnsemblGeneIds (GRCh37): ENSG00000148606
OMIM: 614258, Gene2Phenotype
POLR3A is in 20 panels

1 review

Rebecca Foulger (Genomics England curator)

Green List (high evidence)

This gene and phenotype were re-reviewed during meetings at Great Ormond Street hospital in March and April 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of re-review: Confirmed that phenotype is fetally-relevant: include on the Fetal anomalies panel as a Green gene. Additional notes from clinical re-review: Include due to Wiedemann-Rautenstrauch syndrome (MIM:264090, neonatal onset progeroid syndrome; can present antenatally with IUGR and relative microcephaly).
Created: 29 Apr 2019, 12:28 p.m.
Comment on phenotypes: Added 'Wiedemann-Rautenstrauch syndrome' to the phenotypes because (based on the OMIM summary) the condition includes intrauterine growth retardation amongst the phenotypes, and is therefore fetally-relevant.
Created: 21 Apr 2019, 7:57 p.m.
Comment on phenotypes: New gene:disorder association added to DDG2P on 27/03/2019 (after expert clinical review of POLR3A on Fetal anomalies panel): Autosomal Recessive Wiedemann Rautenstrauch Syndrome. DDG2P Disease confidence for Wiedemann Rautenstrauch Syndrome: confirmed. DDG2P mode of pathogenicity/mutation consequence for Wiedemann Rautenstrauch Syndrome: loss of function. DDG2P mode of inheritance for Wiedemann Rautenstrauch Syndrome: biallelic.
Created: 2 Apr 2019, 3:09 p.m.
This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.
Created: 1 Apr 2019, 11:26 a.m.
DDG2P rating in original PAGE list: Confirmed for LEUKODYSTROPHY, HYPOMYELINATING, 7, WITH OR WITHOUT OLIGODONTIA AND/OR HYPOGONADOTROPIC HYPOGONADISM
Created: 11 Dec 2018, 9:05 a.m.

History Filter Activity

21 Apr 2019, Gel status: 4

Set Phenotypes

Rebecca Foulger (Genomics England curator)

Phenotypes for gene: POLR3A were changed from LEUKODYSTROPHY, HYPOMYELINATING, 7, WITH OR WITHOUT OLIGODONTIA AND/OR HYPOGONADOTROPIC HYPOGONADISM; Autosomal Recessive Wiedemann Rautenstrauch Syndrome, 264090 to LEUKODYSTROPHY, HYPOMYELINATING, 7, WITH OR WITHOUT OLIGODONTIA AND/OR HYPOGONADOTROPIC HYPOGONADISM; Autosomal Recessive Wiedemann Rautenstrauch Syndrome, 264090

2 Apr 2019, Gel status: 4

Set Phenotypes

Rebecca Foulger (Genomics England curator)

Phenotypes for gene: POLR3A were changed from LEUKODYSTROPHY, HYPOMYELINATING, 7, WITH OR WITHOUT OLIGODONTIA AND/OR HYPOGONADOTROPIC HYPOGONADISM to LEUKODYSTROPHY, HYPOMYELINATING, 7, WITH OR WITHOUT OLIGODONTIA AND/OR HYPOGONADOTROPIC HYPOGONADISM; Autosomal Recessive Wiedemann Rautenstrauch Syndrome, 264090

8 Nov 2018, Gel status: 4

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

Rebecca Foulger (Genomics England curator)

gene: POLR3A was added gene: POLR3A was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype Mode of inheritance for gene: POLR3A was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: POLR3A were set to LEUKODYSTROPHY, HYPOMYELINATING, 7, WITH OR WITHOUT OLIGODONTIA AND/OR HYPOGONADOTROPIC HYPOGONADISM