DDG2P
Gene: NUP188

NUP188 (nucleoporin 188)
EnsemblGeneIds (GRCh38): ENSG00000095319
EnsemblGeneIds (GRCh37): ENSG00000095319
OMIM: 615587, Gene2Phenotype
NUP188 is in 7 panels

1 review

Achchuthan Shanmugasundram (Genomics England Curator)

Green List (high evidence)

The DDG2P confidence category, allelic requirement and molecular mechanism for NUP188-related neurodegeneration, cataracts and facial dysmorphisms are strong, biallelic_autosomal and loss of function (PMIDs: 32021605, 32275884). More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P02569.
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
NUP188-related neurodegeneration, cataracts and facial dysmorphisms; OMIM:618804.0; MONDO:0032926

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

OMIM:618804.0
NUP188-related neurodegeneration, cataracts and facial dysmorphisms
MONDO:0032926

OMIM

615587

Clinvar variants

Variants in NUP188

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: NUP188 was added gene: NUP188 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: NUP188 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: NUP188 were set to 32021605; 32275884 Phenotypes for gene: NUP188 were set to OMIM:618804.0; NUP188-related neurodegeneration, cataracts and facial dysmorphisms; MONDO:0032926

DDG2P Gene: NUP188