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Skeletal dysplasia

Gene: NXN

Amber List (moderate evidence)

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

3 reviews

Michael Oldridge (NHS)

Green List (high evidence)

2 unrelated families with recessive Robinow syndrome (RRS), one hom and one comp het for variants, segregation fits with recessive inheritance. Mouse model has overlapping clinical features to RRS . Gene expressed in limb bud of mice and acts in the Wnt/PCP pathway, as do the DVL genes, WNT5A, FZD2 and ROR2, genes also associated with the very specific RRS phenotype.
Created: 30 Jan 2021, 3:29 p.m. | Last Modified: 30 Jan 2021, 3:35 p.m.
Panel Version: 2.80

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
recessive Robinow syndrome

Publications

Arina Puzriakova (Genomics England Curator)

Comment on list classification: Changed rating from Green to Amber so that Green genes on this panel reflect the NHS signed-off version. This will be reviewed at the next GMS panel update (added 'for-review' tag).
Created: 20 Oct 2020, 3:52 p.m. | Last Modified: 20 Oct 2020, 3:52 p.m.
Panel Version: 2.24

Ellen McDonagh (Genomics England Curator)

I don't know

Comment on list classification: Promoted to Green after expert review from Sian Ellard (by email).
Created: 7 Apr 2020, 4:36 p.m. | Last Modified: 7 Apr 2020, 4:36 p.m.
Panel Version: 2.7
Comment on list classification: Two family reports and mouse model...should this be promoted to Green?
Created: 7 Apr 2020, 10:23 a.m. | Last Modified: 7 Apr 2020, 10:23 a.m.
Panel Version: 2.5
Gene suggested by Sian Ellard (Royal Devon & Exeter NHS Foundation Trust, South West Genomic Laboratory Hub) to be added to this panel. PMID: 29276006 reports three individuals from two families with biallelic vairants in this gene that co-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: 7 Apr 2020, 10:21 a.m. | Last Modified: 7 Apr 2020, 10:22 a.m.
Panel Version: 2.4

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Robinow syndrome, autosomal recessive 2 618529

Publications

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Expert Review
  • Literature
Phenotypes
  • Robinow syndrome, autosomal recessive 2 618529
Tags
for-review
OMIM
612895
Clinvar variants
Variants in NXN
Penetrance
None
Publications
Panels with this gene

History Filter Activity

20 Oct 2020, Gel status: 2

Entity classified by Genomics England curator

Arina Puzriakova (Genomics England Curator)

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

20 Oct 2020, Gel status: 3

Added Tag

Arina Puzriakova (Genomics England Curator)

Tag for-review tag was added to gene: NXN.

7 Apr 2020, Gel status: 3

Entity classified by Genomics England curator

Ellen McDonagh (Genomics England Curator)

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

7 Apr 2020, Gel status: 2

Entity classified by Genomics England curator

Ellen McDonagh (Genomics England Curator)

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

7 Apr 2020, Gel status: 2

Entity classified by Genomics England curator

Ellen McDonagh (Genomics England Curator)

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

7 Apr 2020, Gel status: 2

Entity classified by Genomics England curator

Ellen McDonagh (Genomics England Curator)

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

7 Apr 2020, Gel status: 2

Entity classified by Genomics England curator

Ellen McDonagh (Genomics England Curator)

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

7 Apr 2020, Gel status: 1

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

Ellen McDonagh (Genomics England Curator)

gene: NXN was added gene: NXN was added to Skeletal dysplasia. Sources: Literature,Expert Review Mode of inheritance for gene: NXN was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: NXN were set to 29276006 Phenotypes for gene: NXN were set to Robinow syndrome, autosomal recessive 2 618529 Review for gene: NXN was set to AMBER