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Mendeliome

Gene: PPM1E

Red List (low evidence)

PPM1E (protein phosphatase, Mg2+/Mn2+ dependent 1E)
EnsemblGeneIds (GRCh38): ENSG00000175175
EnsemblGeneIds (GRCh37): ENSG00000175175
PPM1E is in 1 panel

2 reviews

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Comment when marking as ready: Agreed, cannot find evidence for Mendelian gene-disease association.
Created: 11 Mar 2020, 6:18 a.m. | Last Modified: 11 Mar 2020, 6:18 a.m.
Panel Version: 0.1692

Naomi Baker (Victorian Clinical Genetics Services)

Red List (low evidence)

No evidence of mendelian gene-disease association.
Created: 11 Mar 2020, 4:43 a.m. | Last Modified: 11 Mar 2020, 4:43 a.m.
Panel Version: 0.1691

Details

Mode of Inheritance
Unknown
Sources
  • Expert Review Red
  • Victorian Clinical Genetics Services
Clinvar variants
Variants in PPM1E
Penetrance
None
Panels with this gene

History Filter Activity

11 Mar 2020, Gel status: 1

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: ppm1e has been classified as Red List (Low Evidence).

11 Mar 2020, Gel status: 1

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: ppm1e 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: PPM1E was added gene: PPM1E was added to Mendeliome_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: PPM1E was set to Unknown