Monogenic hearing loss
Gene: SYNE4Comment on list classification: Changing rating from red to green as there are 3 unrelated casesCreated: 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.
(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
Gene: syne4 has been classified as Green List (High Evidence).
Publications for gene: SYNE4 were set to
Mode of inheritance for gene: SYNE4 was changed from to BIALLELIC, autosomal or pseudoautosomal
SYNE4 was added to Congenital hearing impairment (Profound/Severe)panel. Sources: Radboud University Medical Center, Nijmegen,Expert
SYNE4 was added to Congenital hearing impairment (Profound/Severe)panel. Sources: Radboud University Medical Center, Nijmegen,Expert