| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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| Monogenic hearing loss v2.55 | WBP2 | Eleanor Williams Phenotypes for gene: WBP2 were changed from Deafness, autosomal recessive 107, MIM#617639 to Deafness, autosomal recessive 107, 617639 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Monogenic hearing loss v2.54 | WBP2 | Eleanor Williams Classified gene: WBP2 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Monogenic hearing loss v2.54 | WBP2 | Eleanor Williams Added comment: Comment on list classification: Changing the rating from grey to Amber. 2 cases plus mouse model but all from one paper. No further evidence since 2016. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Monogenic hearing loss v2.54 | WBP2 | Eleanor Williams Gene: wbp2 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Monogenic hearing loss v2.53 | WBP2 | Eleanor Williams edited their review of gene: WBP2: Changed rating: AMBER; Changed publications: 26881968; Changed phenotypes: Deafness, autosomal recessive 107 617639; Changed mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Monogenic hearing loss v2.53 | WBP2 | Eleanor Williams commented on gene: WBP2 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Monogenic hearing loss v2.4 | WBP2 |
Zornitza Stark gene: WBP2 was added gene: WBP2 was added to Hearing loss. Sources: Expert list Mode of inheritance for gene: WBP2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: WBP2 were set to 26881968 Phenotypes for gene: WBP2 were set to Deafness, autosomal recessive 107, MIM#617639 Review for gene: WBP2 was set to AMBER Added comment: Two unrelated families identified in a large cohort; supportive animal model data. Sources: Expert list |
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