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| Monogenic hearing loss v2.229 | EPS8L2 | Eleanor Williams Phenotypes for gene: EPS8L2 were changed from Deafness, autosomal recessive 106, MIM#617637 to Deafness, autosomal recessive 106, OMIM:617637 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Monogenic hearing loss v2.228 | EPS8L2 | Eleanor Williams Tag for-review was removed from gene: EPS8L2. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Monogenic hearing loss v2.221 | EPS8L2 | Eleanor Williams commented on gene: EPS8L2: The rating of this gene has been updated following NHS Genomic Medicine Service approval. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Monogenic hearing loss v2.220 | EPS8L2 |
Eleanor Williams Source Expert Review Green was added to EPS8L2. Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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| Monogenic hearing loss v2.22 | EPS8L2 | Eleanor Williams Tag for-review tag was added to gene: EPS8L2. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Monogenic hearing loss v2.22 | EPS8L2 | Eleanor Williams Classified gene: EPS8L2 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Monogenic hearing loss v2.22 | EPS8L2 | Eleanor Williams Added comment: Comment on list classification: There is enough evidence for this gene to be rated GREEN at the next major review | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Monogenic hearing loss v2.22 | EPS8L2 | Eleanor Williams Gene: eps8l2 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Monogenic hearing loss v2.4 | EPS8L2 | Eleanor Williams reviewed gene: EPS8L2: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Monogenic hearing loss v2.4 | EPS8L2 |
Zornitza Stark gene: EPS8L2 was added gene: EPS8L2 was added to Hearing loss. Sources: Expert list Mode of inheritance for gene: EPS8L2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: EPS8L2 were set to 26282398; 2391890; 28281779 Phenotypes for gene: EPS8L2 were set to Deafness, autosomal recessive 106, MIM#617637 Review for gene: EPS8L2 was set to GREEN gene: EPS8L2 was marked as current diagnostic Added comment: Two unrelated families and a mouse model. Sources: Expert list |
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