Skeletal dysplasia

Gene: NXN

The rating of this gene has been updated following NHS Genomic Medicine Service approval.

Created: 6 Mar 2022, 5:41 p.m. | Last Modified: 6 Mar 2022, 5:41 p.m.

Panel Version: 2.176

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

• 29276006

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

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

• 29276006