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Mendeliome

Gene: PTPN4

Green List (high evidence)

PTPN4 (protein tyrosine phosphatase, non-receptor type 4)
EnsemblGeneIds (GRCh38): ENSG00000088179
EnsemblGeneIds (GRCh37): ENSG00000088179
OMIM: 176878, Gene2Phenotype
PTPN4 is in 2 panels

1 review

Bryony Thompson (Royal Melbourne Hospital)

Green List (high evidence)

>3 unrelated probands and supporting mouse model
PMID: 17953619 - knockout mouse model has impaired motor learning and cerebellar synaptic plasticity
PMID: 25424712 - twins with a de novo whole gene deletion and a Rett-like neurodevelopmental disorder
PMID: 30238967 - mosaic de novo variant (p.Leu72Ser) identified in a child with developmental delay, autistic features, hypotonia, increased immunoglobulin E and dental problems. Also supporting mouse assays demonstrating loss of protein expression in dendritic spines
PMID: 34527963 - missense and truncating variants in six unrelated individuals with varying degrees of intellectual disability or developmental delay. 5 were able to undergo segregation analysis and found to be de novo.
Sources: Literature
Created: 6 May 2021, 6:36 a.m. | Last Modified: 23 Oct 2023, 5:04 a.m.
Panel Version: 1.1319

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Intellectual disability; developmental delay

Publications

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Neurodevelopmental disorder, MONDO:0700092, PTPN4-related
OMIM
176878
Clinvar variants
Variants in PTPN4
Penetrance
None
Publications
Panels with this gene

History Filter Activity

23 Oct 2023, Gel status: 3

Set publications

Bryony Thompson (Royal Melbourne Hospital)

Publications for gene: PTPN4 were set to 17953619; 25424712; 30238967; DOI: https://doi.org/10.1016/j.xhgg.2021.100033

14 Dec 2022, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: PTPN4 were changed from Intellectual disability; developmental delay to Neurodevelopmental disorder, MONDO:0700092, PTPN4-related

6 May 2021, Gel status: 3

Entity classified by Genomics England curator

Bryony Thompson (Royal Melbourne Hospital)

Gene: ptpn4 has been classified as Green List (High Evidence).

6 May 2021, Gel status: 3

Entity classified by Genomics England curator

Bryony Thompson (Royal Melbourne Hospital)

Gene: ptpn4 has been classified as Green List (High Evidence).

6 May 2021, Gel status: 1

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

Bryony Thompson (Royal Melbourne Hospital)

gene: PTPN4 was added gene: PTPN4 was added to Mendeliome. Sources: Literature Mode of inheritance for gene: PTPN4 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: PTPN4 were set to 17953619; 25424712; 30238967; DOI: https://doi.org/10.1016/j.xhgg.2021.100033 Phenotypes for gene: PTPN4 were set to Intellectual disability; developmental delay Review for gene: PTPN4 was set to GREEN