Skeletal dysplasia
Gene: NXNThe 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
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
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
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
Phenotypes for gene: NXN were changed from Robinow syndrome, autosomal recessive 2 618529 to Robinow syndrome, autosomal recessive 2, OMIM:618529
Tag for-review was removed from gene: NXN.
Source Expert Review Green was added to NXN. Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Gene: nxn has been classified as Amber List (Moderate Evidence).
Tag for-review tag was added to gene: NXN.
Gene: nxn has been classified as Green List (High Evidence).
Gene: nxn has been classified as Amber List (Moderate Evidence).
Gene: nxn has been classified as Amber List (Moderate Evidence).
Gene: nxn has been classified as Amber List (Moderate Evidence).
Gene: nxn has been classified as Amber List (Moderate Evidence).
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