1. Panels
  2. Multiple pterygium syndrome_Fetal akinesia sequence
  3. NUP88
STRs in panel
Prev Next
Regions in panel
Prev Next

Multiple pterygium syndrome_Fetal akinesia sequence

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 families and a zebrafish model.
Sources: Literature
Created: 13 Jun 2021, 10:23 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Fetal akinesia deformation sequence 4, MIM# 618393

Publications

Created: 13 Jun 2021, 10:23 a.m.

Panel version: 0.45

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

13 Jun 2021, 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).

13 Jun 2021, 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).

13 Jun 2021, 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 Multiple pterygium syndrome_Fetal akinesia sequence. 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