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  3. NUP188
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Intellectual disability syndromic and non-syndromic

Gene: NUP188

Green List (high evidence)
NUP188 (nucleoporin 188)
EnsemblGeneIds (GRCh38): ENSG00000095319
EnsemblGeneIds (GRCh37): ENSG00000095319
OMIM: 615587, Gene2Phenotype
NUP188 is in 6 panels

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

Additional 6 unrelated individuals with bi-allelic LoF variants reported, promoted to Green.
Created: 13 Apr 2020, 12:04 a.m. | Last Modified: 13 Apr 2020, 12:05 a.m.
Panel Version: 0.2518
Two unrelated individuals with homozygous truncating variants in this gene reported, Sandestig et al 2019 (died in early infancy), plus another by Strauss et al 2018. Also note two papers reporting mono allelic variants and disparate phenotypes (CDH and mitral valve prolapse, respectively), Yates et al, Haskell et al.
Created: 30 Dec 2019, 7:35 p.m. | Last Modified: 6 Mar 2020, 4:41 a.m.
Panel Version: 0.2413

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Sandestig-Stefanova syndrome, 618804; microcephaly; ID; cataract; structural brain abnormalities; hypoventilation

Publications

Created: 30 Dec 2019, 7:35 p.m.
Last Modified: 13 Apr 2020, 12:05 a.m.
Panel version: 0.3052

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Genetic Health Queensland
Phenotypes
  • Sandestig-Stefanova syndrome, 618804
  • microcephaly
  • ID
  • cataract
  • structural brain abnormalities
  • hypoventilation
OMIM
615587
Clinvar variants
Variants in NUP188
Penetrance
None
Publications
Panels with this gene

History Filter Activity

2 Oct 2020, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: NUP188 were changed from microcephaly; ID; cataract; structural brain abnormalities; hypoventilation to Sandestig-Stefanova syndrome, 618804; microcephaly; ID; cataract; structural brain abnormalities; hypoventilation

13 Apr 2020, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: NUP188 were changed from microcephaly; ID; cataract to microcephaly; ID; cataract; structural brain abnormalities; hypoventilation

13 Apr 2020, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: NUP188 were set to https://doi.org/10.1159/000504818; 28726809

13 Apr 2020, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: nup188 has been classified as Green List (High Evidence).

30 Dec 2019, Gel status: 2

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: nup188 has been classified as Amber List (Moderate Evidence).

30 Dec 2019, Gel status: 2

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: nup188 has been classified as Amber List (Moderate Evidence).

30 Dec 2019, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: NUP188 were changed from to microcephaly; ID; cataract

30 Dec 2019, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: NUP188 were set to

30 Dec 2019, Gel status: 3

Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Mode of inheritance for gene: NUP188 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal

22 Nov 2019, Gel status: 3

Created, Added New Source, Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: NUP188 was added gene: NUP188 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: NUP188 was set to Unknown