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Arthrogryposis

Gene: NEK9

Amber List (moderate evidence)

NEK9 (NIMA related kinase 9)
EnsemblGeneIds (GRCh38): ENSG00000119638
EnsemblGeneIds (GRCh37): ENSG00000119638
OMIM: 609798, Gene2Phenotype
NEK9 is in 2 panels

3 reviews

Arina Puzriakova (Genomics England Curator)

Green List (high evidence)

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

Rhiannon Mellis (Great Ormond Street Hospital)

I don't know

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

Alice Gardham (Genomics England)

Red List (low evidence)

Only reported in three individuals from one family
Created: 5 Jan 2017, 10:48 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Arthrogryposis, Perthes disease, and upward gaze palsy 614262

Publications

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Literature
Phenotypes
  • ?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
Tags
for-review
OMIM
609798
Clinvar variants
Variants in NEK9
Penetrance
Complete
Publications
Panels with this gene

History Filter Activity

18 Jan 2021, Gel status: 2

Set publications

Arina Puzriakova (Genomics England Curator)

Publications for gene: NEK9 were set to 26633546; 21271645; 26908619

18 Jan 2021, Gel status: 2

Entity classified by Genomics England curator

Arina Puzriakova (Genomics England Curator)

Gene: nek9 has been classified as Amber List (Moderate Evidence).

18 Jan 2021, Gel status: 2

Added Tag

Arina Puzriakova (Genomics England Curator)

Tag for-review tag was added to gene: NEK9.

2 Dec 2020, Gel status: 2

Set Phenotypes

Arina Puzriakova (Genomics England Curator)

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

2 Dec 2020, Gel status: 2

Set publications

Arina Puzriakova (Genomics England Curator)

Publications for gene: NEK9 were set to 26633546; 21271645

2 Dec 2020, Gel status: 2

Entity classified by Genomics England curator

Arina Puzriakova (Genomics England Curator)

Gene: nek9 has been classified as Amber List (Moderate Evidence).

16 Jan 2017, Gel status: 1

panel promoted to version 2

Ellen McDonagh (Genomics England Curator)

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.

5 Jan 2017, Gel status: 1

Gene classified by Genomics England curator

Alice Gardham (Genomics England)

This gene has been classified as Red List (Low Evidence).

5 Jan 2017, Gel status: 0

Added New Source

Alice Gardham (Genomics England)

NEK9 was added to Arthrogryposispanel. Sources: Literature

5 Jan 2017, Gel status: 0

Created

Alice Gardham (Genomics England)

NEK9 was created by agardham