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Deafness_IsolatedAndComplex

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

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • 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

28 Jan 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).

28 Jan 2020, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: SYNE4 were changed from to Deafness, autosomal recessive 76, MIM# 615540

28 Jan 2020, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: SYNE4 were set to

28 Jan 2020, Gel status: 3

Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Mode of inheritance for gene: SYNE4 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal

17 Nov 2019, Gel status: 3

Created, Added New Source, Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: SYNE4 was added gene: SYNE4 was added to Deafness_MelbourneGenomics_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services,Melbourne Genomics Health Alliance Deafness Flagship Mode of inheritance for gene: SYNE4 was set to Unknown