DDG2P
Gene: PSMD11

PSMD11 (proteasome 26S subunit, non-ATPase 11)
EnsemblGeneIds (GRCh38): ENSG00000108671
EnsemblGeneIds (GRCh37): ENSG00000108671
OMIM: 604449, Gene2Phenotype
PSMD11 is in 1 panel

1 review

Achchuthan Shanmugasundram (Genomics England Curator)

Red List (low evidence)

The DDG2P confidence category, allelic requirement and molecular mechanism for PSMD11-related neurodevelopmental disorder with or without obesity are limited, monoallelic_autosomal and loss of function (PMID:38866022). More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P03898.
Created: 13 Feb 2026, 9:26 p.m. | Last Modified: 13 Feb 2026, 9:26 p.m.

Panel Version: 6.17

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

Phenotypes
PSMD11-related neurodevelopmental disorder with or without obesity

Publications

38866022

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

MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

Sources

DD-Gene2Phenotype
Expert Review Red

Phenotypes

PSMD11-related neurodevelopmental disorder with or without obesity

OMIM

604449

Clinvar variants

Variants in PSMD11

Penetrance

None

Publications

38866022

Panels with this gene

DDG2P

History Filter Activity

13 Feb 2026, Gel status: 1

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

Achchuthan Shanmugasundram (Genomics England Curator)

gene: PSMD11 was added gene: PSMD11 was added to DDG2P. Sources: Expert Review Red,DD-Gene2Phenotype Mode of inheritance for gene: PSMD11 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: PSMD11 were set to 38866022 Phenotypes for gene: PSMD11 were set to PSMD11-related neurodevelopmental disorder with or without obesity

DDG2P Gene: PSMD11