Predominantly Antibody Deficiency

Gene: PTEN

Green List (high evidence)

PTEN (phosphatase and tensin homolog)
EnsemblGeneIds (GRCh38): ENSG00000171862
EnsemblGeneIds (GRCh37): ENSG00000171862
OMIM: 601728, Gene2Phenotype
PTEN is in 31 panels

1 review

Bryony Thompson (Royal Melbourne Hospital)

Green List (high evidence)

Hypogammaglobulinaemia can be a feature of the condition.
Sources: Expert list
Created: 12 Nov 2024, 9:22 a.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
PTEN hamartoma tumor syndrome MONDO:0017623

Publications

Variants in this GENE are reported as part of current diagnostic practice

History Filter Activity

12 Nov 2024, Gel status: 3

Entity classified by Genomics England curator

Bryony Thompson (Royal Melbourne Hospital)

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

12 Nov 2024, Gel status: 3

Entity classified by Genomics England curator

Bryony Thompson (Royal Melbourne Hospital)

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

12 Nov 2024, Gel status: 1

Entity classified by Genomics England curator

Bryony Thompson (Royal Melbourne Hospital)

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

12 Nov 2024, Gel status: 1

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

Bryony Thompson (Royal Melbourne Hospital)

gene: PTEN was added gene: PTEN was added to Predominantly Antibody Deficiency. Sources: Expert list Mode of inheritance for gene: PTEN was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: PTEN were set to 30504085; 33532886; 26246517 Phenotypes for gene: PTEN were set to PTEN hamartoma tumor syndrome MONDO:0017623 Review for gene: PTEN was set to GREEN gene: PTEN was marked as current diagnostic