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Mendeliome

Gene: PUS10

Red List (low evidence)

PUS10 (pseudouridylate synthase 10)
EnsemblGeneIds (GRCh38): ENSG00000162927
EnsemblGeneIds (GRCh37): ENSG00000162927
OMIM: 612787, Gene2Phenotype
PUS10 is in 1 panel

2 reviews

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Comment when marking as ready: Agree, no evidence for Mendelian gene-disease association.
Created: 6 Jan 2020, 11:16 p.m. | Last Modified: 6 Jan 2020, 11:16 p.m.
Panel Version: 0.692

Crystle Lee (Victorian Clinical Genetics Services)

Green List (high evidence)

No evidence of Mendelian gene disease association
Created: 6 Jan 2020, 11:14 p.m. | Last Modified: 6 Jan 2020, 11:14 p.m.
Panel Version: 0.691

Mode of inheritance
Unknown

Details

Mode of Inheritance
Unknown
Sources
  • Expert Review Red
  • Victorian Clinical Genetics Services
OMIM
612787
Clinvar variants
Variants in PUS10
Penetrance
None
Panels with this gene

History Filter Activity

6 Jan 2020, Gel status: 1

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: pus10 has been classified as Red List (Low Evidence).

6 Jan 2020, Gel status: 1

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: pus10 has been classified as Red List (Low Evidence).

17 Nov 2019, Gel status: 3

Created, Added New Source, Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: PUS10 was added gene: PUS10 was added to Mendeliome_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: PUS10 was set to Unknown