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Monogenic hearing loss v2.248 | KDM3B | Sarah Leigh Phenotypes for gene: KDM3B were changed from Global developmental delay; Intellectual disability; Short stature; Behavioral abnormality; Seizures to Diets-Jongmans syndrome, OMIM:618846; Diets-Jongmans syndrome, MONDO:0030012 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Monogenic hearing loss v2.177 | KDM3B | Ivone Leong changed review comment from: After consulting with the Genomics England Clinical Team it was decided that this gene should be promoted to Green status at the next review.; to: After consulting with the Genomics England Clinical Team it was decided that this gene should be added to this panel. However, there is currently not enough evidence to support a gene-disease association. This gene has been given an Amber rating. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Monogenic hearing loss v2.177 | KDM3B |
Ivone Leong Tag Q2_21_rating was removed from gene: KDM3B. Tag watchlist tag was added to gene: KDM3B. |
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Monogenic hearing loss v2.177 | KDM3B | Ivone Leong Entity copied from Intellectual disability v3.1146 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Monogenic hearing loss v2.177 | KDM3B |
Ivone Leong gene: KDM3B was added gene: KDM3B was added to Hearing loss. Sources: Victorian Clinical Genetics Services,Expert Review Amber Q2_21_rating tags were added to gene: KDM3B. Mode of inheritance for gene: KDM3B was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: KDM3B were set to 30929739 Phenotypes for gene: KDM3B were set to Global developmental delay; Intellectual disability; Short stature; Behavioral abnormality; Seizures |