Skeletal Dysplasia_Fetal
Gene: NEK9EnsemblGeneIds (GRCh38): ENSG00000119638
EnsemblGeneIds (GRCh37): ENSG00000119638
OMIM: 609798, Gene2Phenotype
NEK9 is in 6 panels
1 review
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)
Two Irish traveller families, 5 affected individuals, same homozygous variant identified (founder effect). Limited functional data.
Sources: Expert listCreated: 17 Jun 2020, 9:04 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Lethal congenital contracture syndrome 10, MIM# 617022; Skeletal dysplasia
Publications
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Red
- Expert list
- Phenotypes
-
- Lethal congenital contracture syndrome 10, MIM# 617022
- Skeletal dysplasia
- Tags
- OMIM
- 609798
- Clinvar variants
- Variants in NEK9
- Penetrance
- None
- Publications
- Panels with this gene
History Filter Activity
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: nek9 has been classified as Red List (Low Evidence).
Added Tag
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Tag founder tag was added to gene: NEK9.
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)gene: NEK9 was added gene: NEK9 was added to Skeletal Dysplasia_Fetal. Sources: Expert list Mode of inheritance for gene: NEK9 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: NEK9 were set to 26908619 Phenotypes for gene: NEK9 were set to Lethal congenital contracture syndrome 10, MIM# 617022; Skeletal dysplasia Review for gene: NEK9 was set to RED