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| Monogenic hearing loss v2.244 | SLITRK6 | Arina Puzriakova Mode of inheritance for gene: SLITRK6 was changed from to BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Monogenic hearing loss v2.236 | SLITRK6 | Eleanor Williams Phenotypes for gene: SLITRK6 were changed from Deafness and myopia, 221200; high myopia-sensorineural deafness syndrome MONDO:0009082 to Deafness and myopia, OMIM:221200; high myopia-sensorineural deafness syndrome MONDO:0009082 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Monogenic hearing loss v2.235 | SLITRK6 | Eleanor Williams Tag for-review was removed from gene: SLITRK6. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Monogenic hearing loss v2.221 | SLITRK6 | Eleanor Williams commented on gene: SLITRK6: The rating of this gene has been updated following NHS Genomic Medicine Service approval. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Monogenic hearing loss v2.220 | SLITRK6 |
Eleanor Williams Source Expert Review Green was added to SLITRK6. Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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| Monogenic hearing loss v2.101 | SLITRK6 | Eleanor Williams Tag for-review tag was added to gene: SLITRK6. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Monogenic hearing loss v2.101 | SLITRK6 | Eleanor Williams Classified gene: SLITRK6 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Monogenic hearing loss v2.101 | SLITRK6 | Eleanor Williams Added comment: Comment on list classification: Promoting this gene from red to amber but with a recommendation for a green rating following GMS review. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Monogenic hearing loss v2.101 | SLITRK6 | Eleanor Williams Gene: slitrk6 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Monogenic hearing loss v2.100 | SLITRK6 | Eleanor Williams Phenotypes for gene: SLITRK6 were changed from Deafness and myopia, 221200 to Deafness and myopia, 221200; high myopia-sensorineural deafness syndrome MONDO:0009082 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Monogenic hearing loss v2.99 | SLITRK6 | Eleanor Williams Publications for gene: SLITRK6 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Monogenic hearing loss v2.98 | SLITRK6 | Eleanor Williams edited their review of gene: SLITRK6: Changed rating: GREEN; Changed publications: 29551497, 23946138, 23543054; Changed phenotypes: Deafness and myopia, 221200, high myopia-sensorineural deafness syndrome MONDO:0009082; Changed mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Monogenic hearing loss v2.98 | SLITRK6 |
Eleanor Williams changed review comment from: Associated with Deafness and myopia #221200 (AR) in OMIM. PMID: 29551497 - Salime et al 2018 - report a consanguineous Moroccan family with 2 children diagnosed for deafness and myopia in infancy. The SLITRK6 was sequenced and a homozygous 1 bp deletion leading to a premature stop codon p.Trp232Cysfs*10 was found. The parents were heterozygous for the variant as were 3 unaffected siblings. PMID: 23946138 - Morlet et al 2014 - report 9 Old Order Amish individuals who were homozygous for a nonsense mutation of SLITRK6 (c.1240C>T, p.Gln414Ter) and suffered progressive cochlear and auditory nerve dysfunction PMID: 23543054 - Tekin et al 2013 - report 3 families (1 old-order Amish family, 1 consanguineous Turkish and 1 Greek). The Amish and Turkish families had members with congenital myopia and prelingual sensorineural hearing loss, while the affected Greek family had hearing loss only. Homozygous nonsense variants were found in SLITRK6 in all 3 families (Amish p.Q414X, Turkish p.S297X, Greek p.R181X). WES was performed on the Turkish family, targeted sequencing in a region of autozygosity in the Amish family, and targeted SLITRK6 sequencing in the Greek family in which affected members had the same haplotype in that region. Mouse Slitrk6 KO show a hearing loss phenotype. Summary: founder mutation in SLITRK6 in several Amish families, plus 3 other variants reported in families of other ethnicities.; to: Associated with Deafness and myopia #221200 (AR) in OMIM. PMID: 29551497 - Salime et al 2018 - report a consanguineous Moroccan family with 2 children diagnosed for deafness and myopia in infancy. The SLITRK6 was sequenced and a homozygous 1 bp deletion leading to a premature stop codon p.Trp232Cysfs*10 was found. The parents were heterozygous for the variant as were 3 unaffected siblings. PMID: 23946138 - Morlet et al 2014 - report 9 Old Order Amish individuals who were homozygous for a nonsense mutation of SLITRK6 (c.1240C>T, p.Gln414Ter) and suffered progressive cochlear and auditory nerve dysfunction PMID: 23543054 - Tekin et al 2013 - report 3 families (1 old-order Amish family, 1 consanguineous Turkish and 1 Greek). The Amish and Turkish families had members with congenital myopia and prelingual sensorineural hearing loss, while the affected Greek family had hearing loss only. Homozygous nonsense variants were found in SLITRK6 in all 3 families (Amish p.Q414X, Turkish p.S297X, Greek p.R181X). WES was performed on the Turkish family, targeted sequencing in a region of autozygosity in the Amish family, and targeted SLITRK6 sequencing in the Greek family in which affected members had the same haplotype in that region. Mouse Slitrk6 KO show a hearing loss phenotype. Summary: founder mutation in SLITRK6 in several Amish families, plus 3 other variants reported in families of other ethnicities. Mouse model shows hearing loss phenotype. |
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| Monogenic hearing loss v2.98 | SLITRK6 | Eleanor Williams commented on gene: SLITRK6 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Monogenic hearing loss v2.4 | SLITRK6 | Zornitza Stark reviewed gene: SLITRK6: Rating: GREEN; Mode of pathogenicity: None; Publications: 23543054, 29551497; Phenotypes: Deafness and myopia, MIM#221200; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||