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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

Andrew Coventry (Victorian Clinical Genetics Services)

Green List (high evidence)

Hypomyelinating leukodystrophy-11 (HLD11) - neurologic disorder characterised by delayed psychomotor development and other neurologic features associated with hypomyelination on brain imaging. Some patients may have additional non-neurologic features, particularly dental abnormalities and possibly hypogonadotropic hypogonadism
- over 20 individuals reported.

TCS - disorder of craniofacial development characterized by a combination of bilateral downward slanting of the palpebral fissures, colobomas of the lower eyelids with a paucity of eyelashes medial to the defect, hypoplasia of the facial bones, cleft palate, malformation of the external ears, atresia of the external auditory canals, and bilateral conductive hearing loss. At least 4 unrelated families reported.
Created: 2 Dec 2024, 5:08 a.m. | Last Modified: 2 Dec 2024, 5:08 a.m.
Panel Version: 1.633

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

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

Publications

Created: 2 Dec 2024, 5:08 a.m.
Last Modified: 2 Dec 2024, 5:08 a.m.
Panel version: 1.633

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Leukodystrophy, hypomyelinating, 11 MIM#616494
  • Treacher Collins syndrome 3 MIM#248390
OMIM
610060
Clinvar variants
Variants in POLR1C
Penetrance
None
Publications
Panels with this gene

History Filter Activity

12 Dec 2024, 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).

12 Dec 2024, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: POLR1C were changed from Treacher Collins syndrome 3, 248390 (3) to Leukodystrophy, hypomyelinating, 11 MIM#616494; Treacher Collins syndrome 3 MIM#248390

12 Dec 2024, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: POLR1C were set to

2 Nov 2023, Gel status: 3

Set Phenotypes

Seb Lunke (Victorian Clinical Genetics Services)

Added phenotypes Treacher Collins syndrome 3, 248390 (3) for gene: POLR1C

1 Jun 2022, 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 Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green Mode of inheritance for gene: POLR1C was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: POLR1C were set to Treacher Collins syndrome 3, 248390 (3)