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Hand and foot malformations

Gene: NXN

Green List (high evidence)
NXN (nucleoredoxin)
EnsemblGeneIds (GRCh38): ENSG00000167693
EnsemblGeneIds (GRCh37): ENSG00000167693
OMIM: 612895, Gene2Phenotype
NXN is in 3 panels

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

Three individuals from two families with biallelic vairants in this gene that segregate with the disease. All three patients have typical facial characteristics of Robinow syndrome, mesomelia, brachydactyly, and broad thumbs/toes. NXN knockout mice have craniofacial defects which is hypothesized to be caused by abnormal Wnt/Beta-catenin signalling.
Created: 11 Apr 2020, 11:37 a.m. | Last Modified: 11 Apr 2020, 11:37 a.m.
Panel Version: 0.2137

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Robinow syndrome, autosomal recessive 2 618529

Publications

Created: 11 Apr 2020, 11:37 a.m.
Last Modified: 11 Apr 2020, 11:37 a.m.
Panel version: Imported from Mendeliome panel version 0.2137

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert list
  • Victorian Clinical Genetics Services
Phenotypes
  • Robinow syndrome, autosomal recessive 2 MIM#618529
OMIM
612895
Clinvar variants
Variants in NXN
Penetrance
None
Publications
Panels with this gene

History Filter Activity

23 Sep 2021, Gel status: 3

Entity classified by Genomics England curator

Bryony Thompson (Royal Melbourne Hospital)

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

23 Sep 2021, Gel status: 3

Set publications

Bryony Thompson (Royal Melbourne Hospital)

Publications for gene: NXN were set to

23 Sep 2021, Gel status: 3

Entity classified by Genomics England curator

Bryony Thompson (Royal Melbourne Hospital)

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

22 Sep 2021, Gel status: 1

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

Bryony Thompson (Royal Melbourne Hospital)

gene: NXN was added gene: NXN was added to Hand and foot malformation. Sources: Expert list Mode of inheritance for gene: NXN was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: NXN were set to Robinow syndrome, autosomal recessive 2 MIM#618529