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Intellectual disability
Gene: WIPI2

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

4 reviews

Arina Puzriakova (Genomics England Curator)

Green List (high evidence)

The rating of this gene has been updated to Green following NHS Genomic Medicine Service approval.
Created: 11 Oct 2023, 9:34 a.m. | Last Modified: 11 Oct 2023, 9:34 a.m.

Panel Version: 5.286

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Created: 11 Oct 2023, 9:34 a.m.
Last Modified: 11 Oct 2023, 9:34 a.m.
Panel version: 5.286

Achchuthan Shanmugasundram (Genomics England Curator)

Green List (high evidence)

Comment on list classification: As reviewed by Zornitza Stark (Australian Genomics), there are three unrelated families with homozygous variants in WIPI2 gene presenting with varying degrees of intellectual disability (moderate to profound) and supported by functional evidence. Hence, this gene can be promoted to GREEN at the next major review.
Created: 2 May 2023, 6:06 p.m. | Last Modified: 2 May 2023, 6:12 p.m.

Panel Version: 5.85

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
?Intellectual developmental disorder with short stature and variable skeletal anomalies, OMIM:618453

Publications

Created: 2 May 2023, 5:46 p.m.
Last Modified: 2 May 2023, 6:12 p.m.
Panel version: 5.80

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

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

Created: 23 Apr 2020, 4:21 a.m.

Panel version: 3.1332

Details

Mode of Inheritance

BIALLELIC, autosomal or pseudoautosomal

Sources

Expert Review Green
NHS GMS

Phenotypes

Intellectual developmental disorder with short stature and variable skeletal anomalies, OMIM:618453

OMIM

609225

Clinvar variants

Variants in WIPI2

Penetrance

None

Publications

Panels with this gene

History Filter Activity

11 Oct 2023, Gel status: 3

Set Phenotypes

Arina Puzriakova (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, OMIM:618453

11 Oct 2023, Gel status: 3

Removed Tag

Arina Puzriakova (Genomics England Curator)

Tag Q2_23_promote_green was removed from gene: WIPI2.

11 Oct 2023, Gel status: 3

Added New Source, Added New Source, Status Update

Arina Puzriakova (Genomics England Curator)

Source NHS GMS was added to WIPI2. Source Expert Review Green was added to WIPI2. Rating Changed from Amber List (moderate evidence) to Green List (high evidence)

2 May 2023, Gel status: 2