Activity

Filter

Cancel
Date Panel Item Activity
9 actions
Monogenic hearing loss v1.103 SYNE4 Emma Ashton Deleted their comment
Monogenic hearing loss v1.70 SYNE4 Eleanor Williams Classified gene: SYNE4 as Green List (high evidence)
Monogenic hearing loss v1.70 SYNE4 Eleanor Williams Added comment: Comment on list classification: Changing rating from red to green as there are 3 unrelated cases
Monogenic hearing loss v1.70 SYNE4 Eleanor Williams Gene: syne4 has been classified as Green List (High Evidence).
Monogenic hearing loss v1.69 SYNE4 Eleanor Williams Publications for gene: SYNE4 were set to
Monogenic hearing loss v1.68 SYNE4 Eleanor Williams Mode of inheritance for gene: SYNE4 was changed from to BIALLELIC, autosomal or pseudoautosomal
Monogenic hearing loss v1.67 SYNE4 Eleanor Williams commented on gene: SYNE4
Monogenic hearing loss v1.67 SYNE4 Emma Ashton edited their review of gene: SYNE4: Added comment: (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.; Changed publications: 23348741, 28958982
Monogenic hearing loss v1.59 SYNE4 Emma Ashton reviewed gene: SYNE4: Rating: GREEN; Mode of pathogenicity: ; Publications: 24164807, 6824437 ; Phenotypes: ; Mode of inheritance: