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Hearing loss

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 1 panel

3 reviews

Eleanor Williams (Genomics England Curator)

Comment on list classification: Changing rating from red to green as there are 3 unrelated cases
Created: 17 Feb 2019, 10:23 p.m.
Associated with Deafness, autosomal recessive 76 (615540) in OMIM.

PMID: 23348741 - Horn et al (2013) - 6 patients from 2 unrelated consanguineous Iraqi Jewish families with autosomal recessive deafness-76 - homozygous truncating mutation in the SYNE4 gene (c.228_229delAT).

PMID: 28958982 - Masterton et al (2018) - 2 members of a family (consanguineousTurkish parents) with non-syndromic high frequency sensorineural hearing loss who are homozygous for a pathogenic SYNE4 variant NM-001039876.1:c.129-1G>T. Both parents were heterozygous for the variant.

3rd case reported by GOSH.
Created: 17 Feb 2019, 10:21 p.m.

Emma Ashton (Great Ormond Street Hospital)

Green List (high evidence)

(Homozygous frameshift, 1 family, both parents confirmed carriers in our lab): Horn et al (2013) PMID 23348741 two families of Iraqi Jewish origin with same 2bp deletion. Masterton et al (2018) PMID 28958982 two siblings in one family homozygous -1G>T.
Created: 17 Feb 2019, 5:50 p.m.

Publications

Jun Shen (Harvard Medical School)

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
#615540:Deafness, autosomal recessive 76[Hearing loss, progressive sensorineural, affecting high frequencies]

Publications

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Deafness, autosomal recessive 76, 615540
OMIM
615535
Clinvar variants
Variants in SYNE4
Penetrance
Complete
Publications
Panels with this gene

History Filter Activity

17 Feb 2019, Gel status: 3

Entity classified by Genomics England curator

Eleanor Williams (Genomics England Curator)

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

17 Feb 2019, Gel status: 1

Set publications

Eleanor Williams (Genomics England Curator)

Publications for gene: SYNE4 were set to

17 Feb 2019, Gel status: 1

Set mode of inheritance

Eleanor Williams (Genomics England Curator)

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

24 Jun 2015, Gel status: 1

Added New Source

Ellen McDonagh (Genomics England Curator)

SYNE4 was added to Congenital hearing impairment (Profound/Severe)panel. Sources: Radboud University Medical Center, Nijmegen,Expert

24 Jun 2015, Gel status: 1

Added New Source

Ellen McDonagh (Genomics England Curator)

SYNE4 was added to Congenital hearing impairment (Profound/Severe)panel. Sources: Radboud University Medical Center, Nijmegen,Expert