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Mendeliome

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, 11:45 p.m. | Last Modified: 24 Oct 2022, 11:45 p.m.
Panel Version: 1.421

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

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

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

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

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

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, type IX MIM#612225
  • Diabetes mellitus, type 2, MIM# 125853
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

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.

1 Mar 2021, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

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

1 Mar 2021, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: PAX4 were changed from to Maturity-onset diabetes of the young, type IX MIM#612225; Diabetes mellitus, type 2, MIM# 125853

1 Mar 2021, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: PAX4 were set to

1 Mar 2021, Gel status: 3

Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

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

17 Nov 2019, Gel status: 3

Created, Added New Source, Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: PAX4 was added gene: PAX4 was added to Mendeliome_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: PAX4 was set to Unknown