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Intellectual disability

Gene: NUP188

Red List (low evidence)

NUP188 (nucleoporin 188)
EnsemblGeneIds (GRCh38): ENSG00000095319
EnsemblGeneIds (GRCh37): ENSG00000095319
OMIM: 615587, Gene2Phenotype
NUP188 is in 3 panels

2 reviews

Zornitza Stark (Australian Genomics)

Green List (high evidence)

A total of 9 individuals reported with bi-allelic LoF variants and a consistent neurodevelopmental phenotype.
Created: 13 Apr 2020, 12:19 a.m. | Last Modified: 13 Apr 2020, 12:19 a.m.
Panel Version: 3.24

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
microcephaly; ID; cataract; structural brain abnormalities; hypoventilation

Publications

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

Konstantinos Varvagiannis (Other)

Red List (low evidence)

The gene was present in the current panel with red rating, though with no reviews.

In Pubmed there are no publications concerning a link with ID. One publication (PMID: 21282601) reports on a 9q34.11 148 kb duplication spanning NUP188 as well as few other genes found in an individual with d-TGA (dextro-transposition of great arteries). Eventual other phenotypes are not commented on. A further publication (PMID: 28611029) reports on an individual heterozygous for a splice-site SNV but only cardiovascular phenotype is commented on again (mitral valve prolapse - variant : NM_015354.2:c.4737+1G>T).

There are no publications when searching for the alternative gene symbol (KIAA1069), either.

There is no associated phenotype in OMIM or G2P.
The gene is not included in the SysID and SFARI databases.

The denovo-db lists 4 non-synonymous de novo variants in individuals with autism or mixed phenotype.
[ http://denovo-db.gs.washington.edu/denovo-db/QueryVariantServlet?searchBy=Gene&target=NUP188 ]

In Decipher, all CNVs encompassing NUP188 span also other proximal genes. There are no relevant SNVs.

The gene is part of the ID panel of VCGS (TGW024_genelist_V3 - Oct2018) which was also listed as source in the current panel.

Overall, red rating (or removal from the current panel) seems appropriate.
Created: 24 Sep 2019, 4:40 p.m. | Last Modified: 24 Sep 2019, 4:40 p.m.
Panel Version: 2.1046

Details

Sources
OMIM
615587
Clinvar variants
Variants in NUP188
Penetrance
None
Panels with this gene

History Filter Activity

29 Sep 2018, Gel status: 1

Created, Added New Source, Set mode of inheritance

Louise Daugherty (Genomics England Curator)

gene: NUP188 was added gene: NUP188 was added to Intellectual disability. Sources: Victorian Clinical Genetics Services Mode of inheritance for gene: NUP188 was set to