Mosaic skin disorders - deep sequencing
Gene: NEK9

NEK9 (NIMA related kinase 9)
EnsemblGeneIds (GRCh38): ENSG00000119638
EnsemblGeneIds (GRCh37): ENSG00000119638
OMIM: 609798, Gene2Phenotype
NEK9 is in 3 panels

3 reviews

Achchuthan Shanmugasundram (Genomics England Curator)

Green List (high evidence)

The rating of this gene has been updated to green and the mode of inheritance set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted following NHS Genomic Medicine Service approval.
Created: 6 Dec 2024, 11:18 a.m. | Last Modified: 6 Dec 2024, 11:18 a.m.

Panel Version: 2.49

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Created: 6 Dec 2024, 11:18 a.m.
Last Modified: 6 Dec 2024, 11:18 a.m.
Panel version: 2.49

Arina Puzriakova (Genomics England Curator)

Comment on list classification: New gene added by Tom Cullup (GOSH). There is sufficient evidence to promote this gene to green at the next GMS panel update. At least five unrelated individuals reported with nevus comedonicus due to somatic mosaic variants in the NEK9 gene. Two individuals had other syndromic features - congenital cataract was the only common finding present in both cases (PMIDs: 27153399; 34184242; 31961058)
Created: 8 Aug 2023, 3:13 p.m. | Last Modified: 8 Aug 2023, 3:14 p.m.

Panel Version: 2.17

Created: 8 Aug 2023, 3:13 p.m.
Last Modified: 8 Aug 2023, 3:14 p.m.
Panel version: 2.16

Tom Cullup (Great Ormond Street Hospital)

Green List (high evidence)

Sources: Expert list
Created: 5 May 2023, 2:30 p.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
nevus comedonicus (NC) (MIM: 617025)

Publications

Mode of pathogenicity
Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments

Created: 5 May 2023, 2:30 p.m.

Panel version: 2.1

Details

Mode of Inheritance

MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Sources

NHS GMS
Expert Review Green

Phenotypes

Nevus comedonicus, somatic, OMIM:617025

Tags

somatic

OMIM

609798

Clinvar variants

Variants in NEK9

Penetrance

unknown

Publications

Mode of Pathogenicity

Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments

Panels with this gene

History Filter Activity

6 Dec 2024, Gel status: 3

Removed Tag, Removed Tag

Achchuthan Shanmugasundram (Genomics England Curator)

Tag Q3_23_promote_green was removed from gene: NEK9. Tag Q3_23_NHS_review was removed from gene: NEK9.

6 Dec 2024, Gel status: 3

Added New Source, Added New Source, Status Update

Achchuthan Shanmugasundram (Genomics England Curator)

Source Expert Review Green was added to NEK9. Source NHS GMS was added to NEK9. Rating Changed from Amber List (moderate evidence) to Green List (high evidence)

8 Aug 2023, Gel status: 2