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Monogenic hearing loss v4.18 | SPATA5L1 | Achchuthan Shanmugasundram commented on gene: SPATA5L1 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Monogenic hearing loss v4.18 | SPATA5L1 | Achchuthan Shanmugasundram Tag new-gene-name tag was added to gene: SPATA5L1. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Monogenic hearing loss v3.8 | SPATA5L1 | Eleanor Williams Tag gene-checked tag was added to gene: SPATA5L1. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Monogenic hearing loss v3.7 | SPATA5L1 | Arina Puzriakova Tag Q1_22_rating was removed from gene: SPATA5L1. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Monogenic hearing loss v3.7 | SPATA5L1 | Arina Puzriakova reviewed gene: SPATA5L1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Monogenic hearing loss v3.6 | SPATA5L1 |
Arina Puzriakova Source NHS GMS was added to SPATA5L1. Source Expert Review Green was added to SPATA5L1. Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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Monogenic hearing loss v2.218 | SPATA5L1 | Ivone Leong Phenotypes for gene: SPATA5L1 were changed from Neurodevelopmental disorder with hearing loss and spasticity, OMIM:619616 to Neurodevelopmental disorder with hearing loss and spasticity, OMIM:619616; Deafness, autosomal recessive 119, OMIM:619615 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Monogenic hearing loss v2.217 | SPATA5L1 | Ivone Leong Entity copied from Intellectual disability v3.1491 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Monogenic hearing loss v2.217 | SPATA5L1 |
Ivone Leong gene: SPATA5L1 was added gene: SPATA5L1 was added to Hearing loss. Sources: Expert Review Amber,Literature Q1_22_rating tags were added to gene: SPATA5L1. Mode of inheritance for gene: SPATA5L1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: SPATA5L1 were set to 34626583 Phenotypes for gene: SPATA5L1 were set to Neurodevelopmental disorder with hearing loss and spasticity, OMIM:619616 |