| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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| Monogenic hearing loss v2.61 | SPNS2 | Eleanor Williams Classified gene: SPNS2 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Monogenic hearing loss v2.61 | SPNS2 | Eleanor Williams Added comment: Comment on list classification: Updating the rating from grey to amber. 1 reported case plus mouse model. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Monogenic hearing loss v2.61 | SPNS2 | Eleanor Williams Gene: spns2 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Monogenic hearing loss v2.60 | SPNS2 | Eleanor Williams reviewed gene: SPNS2: Rating: AMBER; Mode of pathogenicity: None; Publications: 30973865, 25356849; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Monogenic hearing loss v2.4 | SPNS2 |
Zornitza Stark gene: SPNS2 was added gene: SPNS2 was added to Hearing loss. Sources: Expert list Mode of inheritance for gene: SPNS2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: SPNS2 were set to 30973865; 25356849 Phenotypes for gene: SPNS2 were set to Deafness, autosomal recessive 115, MIM#618457 Review for gene: SPNS2 was set to AMBER Added comment: Single family reported, mouse model shows progressive hearing loss. Sources: Expert list |
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