PanelApp (stage)

Activity

Filter

Cancel
Date Panel Item Activity
19 actions
Deafness_IsolatedAndComplex v1.106 SLC26A5 Zornitza Stark Publications for gene: SLC26A5 were set to 24164807; 26969326
Deafness_IsolatedAndComplex v1.105 SLC26A5 Zornitza Stark Classified gene: SLC26A5 as Amber List (moderate evidence)
Deafness_IsolatedAndComplex v1.105 SLC26A5 Zornitza Stark Gene: slc26a5 has been classified as Amber List (Moderate Evidence).
Deafness_IsolatedAndComplex v1.104 SLC26A5 Zornitza Stark edited their review of gene: SLC26A5: Changed publications: 24164807, 12239568, 10821263, 11423665, 12719379, 18466744, 27091614, 17998209
Deafness_IsolatedAndComplex v1.104 SLC26A5 Zornitza Stark changed review comment from: Comment when marking as ready: Another publication identified, plus another individual with bi-allelic variants reported by a diagnostic laboratory.; to: Comment when marking as ready: Another publication identified, plus another individual with bi-allelic variants reported by a diagnostic laboratory.

This gene-disease association is supported by mouse models, biochemical function studies and expression studies (12239568, 10821263, 11423665, 12719379, 18466744, 27091614, 17998209).

Classified as LIMITED by ClinGen in 2017.
Deafness_IsolatedAndComplex v1.104 SLC26A5 Zornitza Stark edited their review of gene: SLC26A5: Changed rating: AMBER; Changed phenotypes: Deafness, autosomal recessive 61, MIM# 613865
Deafness_IsolatedAndComplex v0.211 SLC26A5 Zornitza Stark Marked gene: SLC26A5 as ready
Deafness_IsolatedAndComplex v0.211 SLC26A5 Zornitza Stark Added comment: Comment when marking as ready: Another publication identified, plus another individual with bi-allelic variants reported by a diagnostic laboratory.
Deafness_IsolatedAndComplex v0.211 SLC26A5 Zornitza Stark Gene: slc26a5 has been classified as Green List (High Evidence).
Deafness_IsolatedAndComplex v0.211 SLC26A5 Zornitza Stark Deleted their comment
Deafness_IsolatedAndComplex v0.211 SLC26A5 Zornitza Stark Added comment: Comment on publications: Another another individual with bi-allelic variants reported by a diagnostic laboratory.
Deafness_IsolatedAndComplex v0.211 SLC26A5 Zornitza Stark Publications for gene: SLC26A5 were set to 24164807; 26969326
Deafness_IsolatedAndComplex v0.210 SLC26A5 Zornitza Stark Added comment: Comment on publications: Another another individual with bi-allelic variants reported by a diagnostic laboratory.
Deafness_IsolatedAndComplex v0.210 SLC26A5 Zornitza Stark Publications for gene: SLC26A5 were set to 24164807
Deafness_IsolatedAndComplex v0.209 SLC26A5 Zornitza Stark Classified gene: SLC26A5 as Green List (high evidence)
Deafness_IsolatedAndComplex v0.209 SLC26A5 Zornitza Stark Gene: slc26a5 has been classified as Green List (High Evidence).
Deafness_IsolatedAndComplex v0.175 SLC26A5 Zornitza Stark Marked gene: SLC26A5 as ready
Deafness_IsolatedAndComplex v0.175 SLC26A5 Zornitza Stark Gene: slc26a5 has been classified as Red List (Low Evidence).
Deafness_IsolatedAndComplex v0.175 SLC26A5 Zornitza Stark gene: SLC26A5 was added
gene: SLC26A5 was added to Deafness_MelbourneGenomics_VCGS. Sources: Expert list
Mode of inheritance for gene: SLC26A5 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SLC26A5 were set to 24164807
Phenotypes for gene: SLC26A5 were set to Deafness, autosomal recessive 61, MIM# 613865
Review for gene: SLC26A5 was set to RED
Added comment: Single family with compound het variants in this gene in a pair of sibs reported. Note an intronic variant in this gene previously implicated in deafness has been reclassified as likely benign due to high pop frequency (PMID:12719379).
Sources: Expert list