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Monogenic hearing loss v2.232 | PLS1 | Eleanor Williams Phenotypes for gene: PLS1 were changed from Deafness, autosomal dominant 76 OMIM:618787; deafness, autosomal dominant 76 MONDO:0032917 to Deafness, autosomal dominant 76, OMIM:618787; deafness, autosomal dominant 76, MONDO:0032917 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Monogenic hearing loss v2.231 | PLS1 | Eleanor Williams Tag for-review was removed from gene: PLS1. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Monogenic hearing loss v2.221 | PLS1 | Eleanor Williams commented on gene: PLS1: The rating of this gene has been updated following NHS Genomic Medicine Service approval. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Monogenic hearing loss v2.220 | PLS1 |
Eleanor Williams Source Expert Review Green was added to PLS1. Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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Monogenic hearing loss v2.110 | PLS1 | Eleanor Williams Tag for-review tag was added to gene: PLS1. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Monogenic hearing loss v2.110 | PLS1 | Eleanor Williams Phenotypes for gene: PLS1 were changed from Deafness to Deafness, autosomal dominant 76 OMIM:618787; deafness, autosomal dominant 76 MONDO:0032917 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Monogenic hearing loss v2.109 | PLS1 | Eleanor Williams Classified gene: PLS1 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Monogenic hearing loss v2.109 | PLS1 | Eleanor Williams Added comment: Comment on list classification: Promoting this gene from grey to amber with a recommendation of green rating at the next GMS review. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Monogenic hearing loss v2.109 | PLS1 | Eleanor Williams Gene: pls1 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Monogenic hearing loss v2.108 | PLS1 | Eleanor Williams edited their review of gene: PLS1: Changed rating: GREEN | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Monogenic hearing loss v2.108 | PLS1 | Eleanor Williams edited their review of gene: PLS1: Changed publications: 31397523, 31432506, 30872814; Changed mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Monogenic hearing loss v2.108 | PLS1 | Eleanor Williams reviewed gene: PLS1: Rating: ; Mode of pathogenicity: None; Publications: ; Phenotypes: Deafness, autosomal dominant 76 OMIM:618787, deafness, autosomal dominant 76 MONDO:0032917; Mode of inheritance: None | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Monogenic hearing loss v2.4 | PLS1 |
Zornitza Stark gene: PLS1 was added gene: PLS1 was added to Hearing loss. Sources: Expert list Mode of inheritance for gene: PLS1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: PLS1 were set to 31397523; 31432506; 30872814 Phenotypes for gene: PLS1 were set to Deafness Review for gene: PLS1 was set to GREEN gene: PLS1 was marked as current diagnostic Added comment: non-syndromic deafness in 5 families with mono-allelic variants in this gene, and a mouse model. Sources: Expert list |