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Maturity-onset Diabetes of the Young

Gene: PAX4

Red List (low evidence)
PAX4 (paired box 4)
EnsemblGeneIds (GRCh38): ENSG00000106331
EnsemblGeneIds (GRCh37): ENSG00000106331
OMIM: 167413, Gene2Phenotype
PAX4 is in 3 panels

4 reviews

Krithika Murali (Victorian Clinical Genetics Services)

Red List (low evidence)

ClinGen 2021 - refuted gene disease association with monogenic diabetes

https://search.clinicalgenome.org/kb/genes/HGNC:8618
Created: 24 Oct 2022, 11:43 p.m. | Last Modified: 24 Oct 2022, 11:43 p.m.
Panel Version: 1.0

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Maturity-onset diabetes of the young, type IX - MIM#612225

Created: 24 Oct 2022, 11:43 p.m.
Last Modified: 24 Oct 2022, 11:43 p.m.
Panel version: 1.0

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

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, 10:02 a.m. | Last Modified: 1 Mar 2021, 10:02 a.m.
Panel Version: 0.6516

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Maturity-onset diabetes of the young, type IX MIM#612225; Diabetes mellitus, type 2, MIM# 125853

Publications

Created: 1 Mar 2021, 10:02 a.m.
Last Modified: 1 Mar 2021, 10:02 a.m.
Panel version: Imported from Mendeliome panel version 0.6516

Seb Lunke (Victorian Clinical Genetics Services)

Green List (high evidence)

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

Created: 1 Mar 2021, 5:13 a.m.
Last Modified: 1 Mar 2021, 5:13 a.m.
Panel version: Imported from Mendeliome panel version Imported from Monogenic Diabetes panel version 0.6

Bryony Thompson (Royal Melbourne Hospital)

Green List (high evidence)

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

Created: 7 Feb 2020, 12:03 a.m.
Last Modified: 7 Feb 2020, 12:03 a.m.
Panel version: 0.4

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Red
  • Royal Melbourne Hospital
  • Victorian Clinical Genetics Services
Phenotypes
  • Maturity Onset Diabetes of the Young
  • Maturity-onset diabetes of the young, type IX, 612225
Tags
refuted
OMIM
167413
Clinvar variants
Variants in PAX4
Penetrance
None
Publications
Panels with this gene

History Filter Activity

26 Oct 2022, Gel status: 1

Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Mode of inheritance for gene: PAX4 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

26 Oct 2022, Gel status: 1

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: pax4 has been classified as Red List (Low Evidence).

26 Oct 2022, Gel status: 3

Added Tag

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Tag refuted tag was added to gene: PAX4.

22 Sep 2022, Gel status: 3

Entity classified by Genomics England curator

Bryony Thompson (Royal Melbourne Hospital)

Gene: pax4 has been classified as Green List (High Evidence).

22 Sep 2022, Gel status: 3

Set publications

Bryony Thompson (Royal Melbourne Hospital)

Publications for gene: PAX4 were set to

30 Dec 2019, Gel status: 3

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

Bryony Thompson (Royal Melbourne Hospital)

gene: PAX4 was added gene: PAX4 was added to Maturity-onset Diabetes of the Young_RMH. Sources: Expert Review Green,Royal Melbourne Hospital 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; Maturity-onset diabetes of the young, type IX, 612225