Activity
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10 actions
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| Monogenic hearing loss v2.224 | CDC14A | Eleanor Williams Phenotypes for gene: CDC14A were changed from Deafness, autosomal recessive 32, with or without immotile sperm, MIM#608653 to Deafness, autosomal recessive 32, with or without immotile sperm, OMIM:608653 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Monogenic hearing loss v2.223 | CDC14A | Eleanor Williams Tag for-review was removed from gene: CDC14A. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Monogenic hearing loss v2.221 | CDC14A | Eleanor Williams commented on gene: CDC14A: The rating of this gene has been updated following NHS Genomic Medicine Service approval. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Monogenic hearing loss v2.220 | CDC14A |
Eleanor Williams Source Expert Review Green was added to CDC14A. Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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| Monogenic hearing loss v2.21 | CDC14A | Eleanor Williams Tag for-review tag was added to gene: CDC14A. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Monogenic hearing loss v2.21 | CDC14A | Eleanor Williams Classified gene: CDC14A as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Monogenic hearing loss v2.21 | CDC14A | 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 v2.21 | CDC14A | Eleanor Williams Gene: cdc14a has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Monogenic hearing loss v2.4 | CDC14A | Eleanor Williams reviewed gene: CDC14A: Rating: GREEN; Mode of pathogenicity: None; Publications: 29293958, 27259055; Phenotypes: Deafness, autosomal recessive 32, with or without immotile sperm, 608653; Mode of inheritance: None | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Monogenic hearing loss v2.4 | CDC14A |
Zornitza Stark gene: CDC14A was added gene: CDC14A was added to Hearing loss. Sources: Expert list Mode of inheritance for gene: CDC14A was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: CDC14A were set to 29293958; 27259055 Phenotypes for gene: CDC14A were set to Deafness, autosomal recessive 32, with or without immotile sperm, MIM#608653 Review for gene: CDC14A was set to GREEN gene: CDC14A was marked as current diagnostic Added comment: Multiple affected individuals from unrelated families reported, plus animal model data. Likely to present with apparently isolated deafness in children. Sources: Expert list |
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