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Callosome

Gene: NEXN

Red List (low evidence)

NEXN (nexilin F-actin binding protein)
EnsemblGeneIds (GRCh38): ENSG00000162614
EnsemblGeneIds (GRCh37): ENSG00000162614
OMIM: 613121, Gene2Phenotype
NEXN is in 10 panels

1 review

Krithika Murali (Victorian Clinical Genetics Services)

Red List (low evidence)

Corpus callosum anomalies not described.
Created: 23 Mar 2022, 1:24 a.m. | Last Modified: 23 Mar 2022, 1:24 a.m.
Panel Version: 0.417

Mode of inheritance
BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal

Phenotypes
Lethal fetal cardiomyopathy; Hydrops fetalis; Cardiomyopathy, dilated 1CC - MIM#613122

Publications

Details

Mode of Inheritance
BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Victorian Clinical Genetics Services
Phenotypes
  • Lethal fetal cardiomyopathy
  • Hydrops fetalis
  • Cardiomyopathy, dilated 1CC - MIM#613122
OMIM
613121
Clinvar variants
Variants in NEXN
Penetrance
None
Publications
Panels with this gene

History Filter Activity

23 Mar 2022, Gel status: 1

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: nexn has been classified as Red List (Low Evidence).

23 Mar 2022, Gel status: 1

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: NEXN were changed from to Lethal fetal cardiomyopathy; Hydrops fetalis; Cardiomyopathy, dilated 1CC - MIM#613122

23 Mar 2022, Gel status: 1

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: NEXN were set to

23 Mar 2022, Gel status: 1

Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Mode of inheritance for gene: NEXN was changed from Unknown to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal

23 Mar 2022, Gel status: 1

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: nexn has been classified as Red List (Low Evidence).

17 Nov 2019, Gel status: 3

Created, Added New Source, Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: NEXN was added gene: NEXN was added to Corpus callosum agenesis, Callosome_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: NEXN was set to Unknown