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  2. Mandibulofacial Acrofacial dysostosis
  3. POLR1C
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Mandibulofacial Acrofacial dysostosis

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)

At least 4 unrelated families reported. Note bi-allelic variants in this gene also cause leukodystrophy.
Created: 7 Aug 2021, 11:56 p.m. | Last Modified: 7 Aug 2021, 11:56 p.m.
Panel Version: 0.65

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Treacher Collins syndrome 3, MIM# 248390

Publications

Created: 7 Aug 2021, 11:56 p.m.
Last Modified: 7 Aug 2021, 11:56 p.m.
Panel version: 0.65

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Treacher Collins syndrome 3, MIM# 248390
OMIM
610060
Clinvar variants
Variants in POLR1C
Penetrance
None
Publications
Panels with this gene

History Filter Activity

7 Aug 2021, 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).

7 Aug 2021, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

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

7 Aug 2021, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: POLR1C were set to

7 Aug 2021, Gel status: 3

Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Mode of inheritance for gene: POLR1C was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal

17 Nov 2019, Gel status: 3

Created, Added New Source, Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: POLR1C was added gene: POLR1C was added to Mandibulofacial Acrofacial dysostosis_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: POLR1C was set to Unknown