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  3. PMS2
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Combined Immunodeficiency

Gene: PMS2

Amber List (moderate evidence)
PMS2 (PMS1 homolog 2, mismatch repair system component)
EnsemblGeneIds (GRCh38): ENSG00000122512
EnsemblGeneIds (GRCh37): ENSG00000122512
OMIM: 600259, Gene2Phenotype
PMS2 is in 16 panels

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

I don't know

Immunodeficiency is a rare manifestation of CMMRD. Sources: Expert list
Created: 10 Jan 2020, 3:35 a.m. | Last Modified: 11 Apr 2020, 4:54 a.m.
Panel Version: 0.115

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Mismatch repair cancer syndrome, MIM# 276300

Created: 10 Jan 2020, 3:35 a.m.
Last Modified: 11 Apr 2020, 4:54 a.m.
Panel version: 0.115

History Filter Activity

11 Apr 2020, Gel status: 2

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: pms2 has been classified as Amber List (Moderate Evidence).

10 Jan 2020, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: pms2 has been classified as Green List (High Evidence).

10 Jan 2020, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: pms2 has been classified as Green List (High Evidence).

10 Jan 2020, Gel status: 1

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

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: PMS2 was added gene: PMS2 was added to Combined immunodeficiency_MelbourneGenomics_VCGS. Sources: Expert list Mode of inheritance for gene: PMS2 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: PMS2 were set to Mismatch repair cancer syndrome, MIM# 276300 Review for gene: PMS2 was set to GREEN