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Callosome

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

Rare manifestation of CMMRD.
Created: 11 Apr 2020, 4:56 a.m. | Last Modified: 11 Apr 2020, 4:56 a.m.
Panel Version: 0.116

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Mismatch repair cancer syndrome, MIM# 276300

Publications

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).

11 Apr 2020, Gel status: 2

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: PMS2 were changed from to Mismatch repair cancer syndrome, MIM# 276300

11 Apr 2020, Gel status: 2

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: PMS2 were set to

11 Apr 2020, Gel status: 2

Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Mode of inheritance for gene: PMS2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal

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).

17 Nov 2019, Gel status: 3

Created, Added New Source, Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: PMS2 was added gene: PMS2 was added to Corpus callosum agenesis, Callosome_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: PMS2 was set to Unknown