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Intellectual disability syndromic and non-syndromic

Gene: WIPI2

Green List (high evidence)

WIPI2 (WD repeat domain, phosphoinositide interacting 2)
EnsemblGeneIds (GRCh38): ENSG00000157954
EnsemblGeneIds (GRCh37): ENSG00000157954
OMIM: 609225, Gene2Phenotype
WIPI2 is in 2 panels

2 reviews

Dean Phelan (Victorian Clinical Genetics Services)

Green List (high evidence)

PMID: 30968111 (2019)
- homozygous missense variant identified in 4 patients from a highly consanguineous Pakistani family with intellectual developmental disorder with short stature and variable skeletal anomalies.
- functional studies showed reduced binding and reduced WIPI2 puncta, reduced LC3 lipidation and reduced autophagic flux.

PMID: 34557665 (2021)
- two novel homozygous variants were identified in four individuals of two consanguineous families.
- one family presented with microcephaly, profound global developmental delay/intellectual disability, refractory infantile/childhood-onset epilepsy, progressive tetraplegia with joint contractures and dyskinesia.
- second family (similar to initial publication) presented with a milder phenotype, encompassing moderate intellectual disability, speech and visual impairment, autistic features, and an ataxic gait.
- functional studies showed dysregulation of the early steps of the autophagy pathway.
Created: 4 Oct 2021, 4:54 a.m. | Last Modified: 4 Oct 2021, 4:54 a.m.
Panel Version: 0.4164

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
global developmental delay; intellectual disability; refractory infantile/childhood-onset epilepsy; progressive tetraplegia with joint contractures; dyskinesia; speech and visual impairment; autistic features; ataxic gait

Publications

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

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Red List (low evidence)

Four homozygous individuals from one consanguineous family with intellectual disability, short stature and variable skeletal anomalies. Functional studies in patient cells showed impaired protein function.
Sources: Literature
Created: 20 Apr 2020, 10:12 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Intellectual developmental disorder with short stature and variable skeletal anomalies 618453

Publications

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Intellectual developmental disorder with short stature and variable skeletal anomalies 618453
  • global developmental delay
  • intellectual disability
  • refractory infantile/childhood-onset epilepsy
  • progressive tetraplegia with joint contractures
  • dyskinesia
  • speech and visual impairment
  • autistic features
  • ataxic gait
OMIM
609225
Clinvar variants
Variants in WIPI2
Penetrance
None
Publications
Panels with this gene

History Filter Activity

4 Oct 2021, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: WIPI2 were changed from Intellectual developmental disorder with short stature and variable skeletal anomalies 618453 to Intellectual developmental disorder with short stature and variable skeletal anomalies 618453; global developmental delay; intellectual disability; refractory infantile/childhood-onset epilepsy; progressive tetraplegia with joint contractures; dyskinesia; speech and visual impairment; autistic features; ataxic gait

4 Oct 2021, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: WIPI2 were set to 30968111

4 Oct 2021, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: wipi2 has been classified as Green List (High Evidence).

20 Apr 2020, Gel status: 1

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: wipi2 has been classified as Red List (Low Evidence).

20 Apr 2020, Gel status: 1

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

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: WIPI2 was added gene: WIPI2 was added to Intellectual disability syndromic and non-syndromic. Sources: Literature Mode of inheritance for gene: WIPI2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: WIPI2 were set to 30968111 Phenotypes for gene: WIPI2 were set to Intellectual developmental disorder with short stature and variable skeletal anomalies 618453 Review for gene: WIPI2 was set to RED