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Mendeliome

Gene: NUP88

Green List (high evidence)

NUP88 (nucleoporin 88)
EnsemblGeneIds (GRCh38): ENSG00000108559
EnsemblGeneIds (GRCh37): ENSG00000108559
OMIM: 602552, Gene2Phenotype
NUP88 is in 4 panels

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

Two unrelated families, functional data on the variants support pathogenicity as does a zebrafish model.
Sources: Literature
Created: 4 Jun 2020, 11:32 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Fetal akinesia deformation sequence 4, MIM# 618393

Publications

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Fetal akinesia deformation sequence 4, MIM# 618393
OMIM
602552
Clinvar variants
Variants in NUP88
Penetrance
None
Publications
Panels with this gene

History Filter Activity

4 Jun 2020, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: nup88 has been classified as Green List (High Evidence).

4 Jun 2020, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: nup88 has been classified as Green List (High Evidence).

4 Jun 2020, Gel status: 1

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

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: NUP88 was added gene: NUP88 was added to Mendeliome. Sources: Literature Mode of inheritance for gene: NUP88 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: NUP88 were set to 30543681 Phenotypes for gene: NUP88 were set to Fetal akinesia deformation sequence 4, MIM# 618393 Review for gene: NUP88 was set to GREEN