DDG2P
Gene: WIPI2

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

1 review

Achchuthan Shanmugasundram (Genomics England Curator)

Green List (high evidence)

The DDG2P confidence category, allelic requirement and molecular mechanism for WIPI2-related neurodevelopmental disorder with white matter loss and hypoplasia of vermis and corpus callosum are moderate, biallelic_autosomal and loss of function (PMIDs: 30968111, 34557665). More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P03720.
Created: 13 Feb 2026, 9:26 p.m. | Last Modified: 13 Feb 2026, 9:26 p.m.

Panel Version: 6.17

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
MONDO:0032759; WIPI2-related neurodevelopmental disorder with white matter loss and hypoplasia of vermis and corpus callosum; OMIM:618453.0

Publications

Created: 13 Feb 2026, 9:26 p.m.
Last Modified: 13 Feb 2026, 9:26 p.m.
Panel version: 6.17

Details

Mode of Inheritance

BIALLELIC, autosomal or pseudoautosomal

Sources

DD-Gene2Phenotype
Expert Review Green

Phenotypes

WIPI2-related neurodevelopmental disorder with white matter loss and hypoplasia of vermis and corpus callosum
OMIM:618453.0
MONDO:0032759

OMIM

609225

Clinvar variants

Variants in WIPI2

Penetrance

None

Publications

Panels with this gene

History Filter Activity

13 Feb 2026, Gel status: 3

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

Achchuthan Shanmugasundram (Genomics England Curator)

gene: WIPI2 was added gene: WIPI2 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: WIPI2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: WIPI2 were set to 30968111; 34557665 Phenotypes for gene: WIPI2 were set to WIPI2-related neurodevelopmental disorder with white matter loss and hypoplasia of vermis and corpus callosum; OMIM:618453.0; MONDO:0032759

DDG2P Gene: WIPI2