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| Auditory Neuropathy v0.24 | ABHD12 | Bryony Thompson edited their review of gene: ABHD12: Changed publications: 31393079, 23297193 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Auditory Neuropathy v0.24 | ABHD12 |
Bryony Thompson changed review comment from: Hearing loss is a feature of the condition, but appears only a single case has confirmed auditory neuropathy as a feature of the condition and a homozygous truncating variant. Sources: Literature; to: Hearing loss is a feature of the condition, However, auditory neuropathy has been confirmed as a feature of the condition in a single case with homozygous truncating variant. Impaired auditory signalling is present in a null mouse model. Sources: Literature |
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| Auditory Neuropathy v0.24 | ABHD12 | Bryony Thompson Classified gene: ABHD12 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Auditory Neuropathy v0.24 | ABHD12 | Bryony Thompson Gene: abhd12 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Auditory Neuropathy v0.23 | ABHD12 |
Bryony Thompson gene: ABHD12 was added gene: ABHD12 was added to Auditory Neuropathy. Sources: Literature Mode of inheritance for gene: ABHD12 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: ABHD12 were set to 31393079 Phenotypes for gene: ABHD12 were set to Polyneuropathy, hearing loss, ataxia, retinitis pigmentosa, and cataract MIM#612674; Syndromic auditory neuropathy spectrum disorder Review for gene: ABHD12 was set to AMBER Added comment: Hearing loss is a feature of the condition, but appears only a single case has confirmed auditory neuropathy as a feature of the condition and a homozygous truncating variant. Sources: Literature |
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