Arthrogryposis
Gene: NEK9The rating of this gene has been updated following NHS Genomic Medicine Service approvalCreated: 3 Mar 2022, 3:49 p.m. | Last Modified: 3 Mar 2022, 3:49 p.m.
Panel Version: 3.150
NEK9 is associated with relevant phenotypes in OMIM (MIM# 614262 and 617022) but currently is not in Gene2Phenotype.Created: 18 Jan 2021, 3:10 p.m. | Last Modified: 18 Jan 2021, 3:10 p.m.
Panel Version: 3.46
Comment on list classification: With addition of the recent report, there are now at least 3 unrelated families presenting arthrogryposis and different biallelic variants in this gene. This now reaches threshold for inclusion, and therefore NEK9 should be promoted to Green at the next GMS panel update (added 'for-review' tag)Created: 18 Jan 2021, 3:05 p.m. | Last Modified: 18 Jan 2021, 3:05 p.m.
Panel Version: 3.45
Deden et al. 2020 (PMID: 32333414) report a further family with two consecutive prenatal presentations with compound heterozygous NEK9 variants. Both fetuses had arthrogryposis.
Both variants were reported as VUS when detected in the first fetus, which initially presented with 'short long bones, bowed femur, micrognathia, talipes and deviated hand' but re-evaluated after the phenotype progressed to arthrogryposis and then the next pregnancy showed the same ultrasound abnormalities and the same compound het variants. At this point the authors felt this represented a conclusive diagnosis.Created: 18 Jan 2021, 3:01 p.m. | Last Modified: 18 Jan 2021, 3:01 p.m.
Panel Version: 3.44
Comment on list classification: Upgraded from Red to Amber in line with the recent review by Rhiannon Mellis (GOSH). Additional cases/clinical evidence required before inclusion on a diagnostic panel.Created: 2 Dec 2020, 5:08 p.m. | Last Modified: 2 Dec 2020, 5:08 p.m.
Panel Version: 3.21
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Publications
Casey et al 2016 report 4 affected fetuses in two Irish Traveller families: phenotype = fetal akinesia, shortening of all long bones, multiple contractures, rib anomalies, thoracic dysplasia, pulmonary hypoplasia. The two families are thought to be distantly related to one another.
In addition to the previously reported 3 individuals from one Saudi family, this likely represents two affected families so probably still not enough evidence for Green rating until more cases reported.Created: 6 Oct 2020, 3:33 p.m. | Last Modified: 6 Oct 2020, 3:33 p.m.
Panel Version: 3.14
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Lethal congenital contracture syndrome 10
Publications
Tag for-review was removed from gene: NEK9.
Source Expert Review Green was added to NEK9. Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Publications for gene: NEK9 were set to 26633546; 21271645; 26908619
Gene: nek9 has been classified as Amber List (Moderate Evidence).
Tag for-review tag was added to gene: NEK9.
Phenotypes for gene: NEK9 were changed from Arthrogryposis, Perthes disease, and upward gaze palsy 614262 to ?Arthrogryposis, Perthes disease, and upward gaze palsy, OMIM:614262; Arthrogryposis, Perthes disease, and upward gaze palsy, MONDO:0013660; Lethal congenital contracture syndrome 10, OMIM:617022; NEK9-related lethal skeletal dysplasia, MONDO:0014870
Publications for gene: NEK9 were set to 26633546; 21271645
Gene: nek9 has been classified as Amber List (Moderate Evidence).
16th Jan 2016: This gene panel was extensively revised with the addition of 101 green genes and review by Alice Gardham. Due to this extensive change to the panel, the decision was made to promote it to the next major version, version 2.
This gene has been classified as Red List (Low Evidence).
NEK9 was added to Arthrogryposispanel. Sources: Literature
NEK9 was created by agardham