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Fetal anomalies

Gene: POLR3B

Red List (low evidence)

POLR3B (RNA polymerase III subunit B)
EnsemblGeneIds (GRCh38): ENSG00000013503
EnsemblGeneIds (GRCh37): ENSG00000013503
OMIM: 614366, Gene2Phenotype
POLR3B is in 15 panels

1 review

Chirag Patel (Genetic Health Queensland)

Red List (low evidence)

Leukodystrophy, hypomyelinating with or without oligodontia and/or hypogonadotropic hypogonadism not presenting antenatally/perinatally. Not suitable for fetal anomalies panel.
Created: 14 Jan 2022, 3:26 a.m. | Last Modified: 14 Jan 2022, 3:26 a.m.
Panel Version: 0.2185

Details

History Filter Activity

20 Jan 2022, Gel status: 1

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: polr3b has been classified as Red List (Low Evidence).

14 Jan 2022, Gel status: 1

Entity classified by Genomics England curator

Chirag Patel (Genetic Health Queensland)

Gene: polr3b has been classified as Red List (Low Evidence).

24 Oct 2021, Gel status: 3

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

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: POLR3B was added gene: POLR3B was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp Mode of inheritance for gene: POLR3B was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: POLR3B were set to Leukodystrophy, hypomyelinating, 8, with or without oligodontia and/or hypogonadotropic hypogonadism, OMIM:614381