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Fetal anomalies

Gene: POLR1C

Green List (high evidence)

POLR1C (RNA polymerase I subunit C)
EnsemblGeneIds (GRCh38): ENSG00000171453
EnsemblGeneIds (GRCh37): ENSG00000171453
OMIM: 610060, Gene2Phenotype
POLR1C is in 12 panels

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

Treacher Collins more likely to be detected antenatally.

Sources: Expert list
Created: 13 Feb 2020, 6:29 a.m. | Last Modified: 2 Mar 2022, 6:18 a.m.
Panel Version: 0.4551

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Leukodystrophy, hypomyelinating, 11, MIM# 616494; Treacher Collins syndrome 3, MIM# 248390

Publications

Details

History Filter Activity

2 Mar 2022, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: polr1c has been classified as Green List (High Evidence).

2 Mar 2022, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: POLR1C were changed from TREACHER COLLINS SYNDROME TYPE 3 to Treacher Collins syndrome 3, MIM# 248390

2 Mar 2022, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: POLR1C were set to

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: POLR1C was added gene: POLR1C was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp Mode of inheritance for gene: POLR1C was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: POLR1C were set to TREACHER COLLINS SYNDROME TYPE 3