1. Panels
  2. Deafness_Isolated
  3. SYNE4
STRs in panel
Prev Next
Regions in panel
Prev Next

Deafness_Isolated

Gene: SYNE4

Green List (high evidence)
SYNE4 (spectrin repeat containing nuclear envelope family member 4)
EnsemblGeneIds (GRCh38): ENSG00000181392
EnsemblGeneIds (GRCh37): ENSG00000181392
OMIM: 615535, Gene2Phenotype
SYNE4 is in 5 panels

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

Two families and a mouse model reported initially, another family reported in 2018.
Created: 28 Jan 2020, 11:26 p.m. | Last Modified: 28 Jan 2020, 11:26 p.m.
Panel Version: 0.261

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Deafness, autosomal recessive 76, MIM# 615540

Publications

Created: 28 Jan 2020, 11:26 p.m.
Last Modified: 28 Jan 2020, 11:26 p.m.
Panel version: Imported from Deafness_IsolatedAndComplex panel version 0.261

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
  • Melbourne Genomics Health Alliance Deafness Flagship
  • Melbourne Genomics Health Alliance Deafness Flagship
  • Victorian Clinical Genetics Services
Phenotypes
  • Deafness, autosomal recessive 76, MIM# 615540
OMIM
615535
Clinvar variants
Variants in SYNE4
Penetrance
None
Publications
Panels with this gene

History Filter Activity

3 Oct 2020, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: syne4 has been classified as Green List (High Evidence).

21 Jul 2020, Gel status: 3

Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: SYNE4 was added gene: SYNE4 was added to DeafnessIsolated. Sources: Melbourne Genomics Health Alliance Deafness Flagship,Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: SYNE4 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: SYNE4 were set to 28958982; 23348741 Phenotypes for gene: SYNE4 were set to Deafness, autosomal recessive 76, MIM# 615540