Activity
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6 actions
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| Monogenic hearing loss v2.91 | ESRP1 | Eleanor Williams Classified gene: ESRP1 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Monogenic hearing loss v2.91 | ESRP1 | Eleanor Williams Added comment: Comment on list classification: Changing rating from grey to amber. 1 case with segregation data reported, plus mouse knockout model. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Monogenic hearing loss v2.91 | ESRP1 | Eleanor Williams Gene: esrp1 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Monogenic hearing loss v2.90 | ESRP1 | Eleanor Williams Phenotypes for gene: ESRP1 were changed from Deafness, autosomal recessive 109, MIM# 618013 to Deafness, autosomal recessive 109, 618013 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Monogenic hearing loss v2.89 | ESRP1 | Eleanor Williams reviewed gene: ESRP1: Rating: AMBER; Mode of pathogenicity: None; Publications: 29107558; Phenotypes: ?Deafness, autosomal recessive 109, 618013; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Monogenic hearing loss v2.4 | ESRP1 |
Zornitza Stark gene: ESRP1 was added gene: ESRP1 was added to Hearing loss. Sources: Expert list Mode of inheritance for gene: ESRP1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: ESRP1 were set to 29107558 Phenotypes for gene: ESRP1 were set to Deafness, autosomal recessive 109, MIM# 618013 Review for gene: ESRP1 was set to AMBER Added comment: Single family reported with affected sibs, mouse model. Amber or Red. Sources: Expert list |
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