Microcephaly
Gene: NUP188EnsemblGeneIds (GRCh38): ENSG00000095319
EnsemblGeneIds (GRCh37): ENSG00000095319
OMIM: 615587, Gene2Phenotype
NUP188 is in 6 panels
1 review
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)
Additional 6 unrelated individuals with bi-allelic LoF variants reported, promoted to Green.Created: 13 Apr 2020, 12:13 a.m. | Last Modified: 13 Apr 2020, 12:13 a.m.
Panel Version: 0.106
Two unrelated individuals with homozygous truncating variants in this gene reported, Sandestin et al 2019, plus another by Strauss et al 2018 but in a large paper reporting multiple other testing outcomes in a diverse cohort. 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, 10:18 p.m. | Last Modified: 30 Dec 2019, 10:18 p.m.
Panel Version: 0.47
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Sandestig-Stefanova syndrome, 618804; microcephaly; ID; cataract; structural brain abnormalities; hypoventilation
Publications
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- Victorian Clinical Genetics Services
- 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
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
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
Set publications
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Publications for gene: NUP188 were set to https://doi.org/10.1159/000504818; 28726809
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: nup188 has been classified as Green List (High Evidence).
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: nup188 has been classified as Amber List (Moderate Evidence).
Set Phenotypes
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Phenotypes for gene: NUP188 were changed from to microcephaly; ID; cataract
Set publications
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Publications for gene: NUP188 were set to
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
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: nup188 has been classified as Amber List (Moderate Evidence).
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 Microcephaly_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: NUP188 was set to Unknown