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  3. POLR1C
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Leukodystrophy - paediatric

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)

Over 20 individuals reported.
Sources: Expert list
Created: 20 Jun 2020, 7:26 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Leukodystrophy, hypomyelinating, 11, MIM# 616494

Publications

Created: 20 Jun 2020, 7:26 a.m.

Panel version: 0.135

History Filter Activity

20 Jun 2020, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: POLR1C were set to 26151409

20 Jun 2020, 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).

20 Jun 2020, 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).

20 Jun 2020, Gel status: 1

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

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: POLR1C was added gene: POLR1C was added to Leukodystrophy - paediatric. Sources: Expert list Mode of inheritance for gene: POLR1C was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: POLR1C were set to 26151409 Phenotypes for gene: POLR1C were set to Leukodystrophy, hypomyelinating, 11, MIM# 616494 Review for gene: POLR1C was set to GREEN