Monogenic Diabetes
Gene: PAX4
ClinGen 2021 - refuted gene disease association with monogenic diabetes
https://search.clinicalgenome.org/kb/genes/HGNC:8618Created: 24 Oct 2022, 11:42 p.m. | Last Modified: 24 Oct 2022, 11:42 p.m.
Panel Version: 0.30
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Maturity-onset diabetes of the young, type IX - MIM#612225
From BT: 2 unrelated MODY cases with R164W and IVS7-1G>A, respectively. R164W showed evidence of segregation with diabetes (unavailable for the splice variant) and both variants have a reported functional impact on PAX4 activity. Investigation of Pax4-null mouse model suggested Pax4 is required for proper apportionment of alpha-, beta-, and gamma-cell numbers in islets of Langerhans. A third unrelated family with an in-frame 39 bp deletion that affected function in in vitro assays has been identified.Created: 1 Mar 2021, 5:13 a.m. | Last Modified: 1 Mar 2021, 5:13 a.m.
Panel Version: 0.6
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Maturity-onset diabetes of the young, type IX MIM#612225
Publications
2 unrelated MODY cases with R164W and IVS7-1G>A, respectively. R164W showed evidence of segregation with diabetes (unavailable for the splice variant) and both variants have a reported functional impact on PAX4 activity. Investigation of Pax4-null mouse model suggested Pax4 is required for proper apportionment of alpha-, beta-, and gamma-cell numbers in islets of Langerhans. A third unrelated family with an in-frame 39 bp deletion that affected function in in vitro assays has been identified.Created: 7 Feb 2020, 12:03 a.m. | Last Modified: 7 Feb 2020, 12:03 a.m.
Panel Version: 0.4
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Maturity-onset diabetes of the young, type IX MIM#612225
Publications
Mode of inheritance for gene: PAX4 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Gene: pax4 has been classified as Red List (Low Evidence).
Tag refuted tag was added to gene: PAX4.
Gene: pax4 has been classified as Green List (High Evidence).
Phenotypes for gene: PAX4 were changed from Maturity-onset diabetes of the young, type IX, 612225; Maturity Onset Diabetes of the Young to Maturity-onset diabetes of the young, type IX MIM#612225
Publications for gene: PAX4 were set to
Gene: pax4 has been classified as Green List (High Evidence).
gene: PAX4 was added gene: PAX4 was added to Monogenic diabetes. Sources: Expert Review Red,Radboud University Medical Center, Nijmegen Mode of inheritance for gene: PAX4 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: PAX4 were set to Maturity-onset diabetes of the young, type IX, 612225; Maturity Onset Diabetes of the Young