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Intellectual disability

Gene: WIPI2

Red List (low evidence)

WIPI2 (WD repeat domain, phosphoinositide interacting 2)
EnsemblGeneIds (GRCh38): ENSG00000157954
EnsemblGeneIds (GRCh37): ENSG00000157954
OMIM: 609225, Gene2Phenotype
WIPI2 is in 1 panel

2 reviews

Sarah Leigh (Genomics England Curator)

Comment on list classification: Associated with relevant phenotype in OMIM, but not associated with phenotype in Gen2Phen. At least 1 homozygous variant was reported in 4 members of a consanguineous family.
Created: 7 Jul 2020, 3:53 p.m. | Last Modified: 7 Jul 2020, 3:53 p.m.
Panel Version: 3.147

Zornitza Stark (Australian Genomics)

Green List (high evidence)

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: 9 Oct 2021, 7:51 a.m. | Last Modified: 9 Oct 2021, 7:51 a.m.
Panel Version: 3.1332
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. One to watch.
Sources: Literature
Created: 23 Apr 2020, 4:21 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

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

Publications

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

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
Phenotypes
  • ?Intellectual developmental disorder with short stature and variable skeletal anomalies 618453
OMIM
609225
Clinvar variants
Variants in WIPI2
Penetrance
None
Publications
Panels with this gene

History Filter Activity

7 Jul 2020, Gel status: 1

Entity classified by Genomics England curator

Sarah Leigh (Genomics England Curator)

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

7 Jul 2020, Gel status: 0

Set Phenotypes

Sarah Leigh (Genomics England Curator)

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

23 Apr 2020, Gel status: 0

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

Zornitza Stark (Australian Genomics)

gene: WIPI2 was added gene: WIPI2 was added to Intellectual disability. 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