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DDG2P v3.73 SPATA5L1 Achchuthan Shanmugasundram Tag gene-checked tag was added to gene: SPATA5L1.
DDG2P v3.73 SPATA5L1 Achchuthan Shanmugasundram commented on gene: SPATA5L1: Added new-gene-name tag, new approved HGNC gene symbol for SPATA5L1 is AFG2B.
DDG2P v3.73 SPATA5 Achchuthan Shanmugasundram commented on gene: SPATA5: Added new-gene-name tag, new approved HGNC gene symbol for SPATA5 is AFG2A.
DDG2P v3.13 SPATA5L1 Achchuthan Shanmugasundram Tag new-gene-name tag was added to gene: SPATA5L1.
DDG2P v3.12 SPATA5L1 Achchuthan Shanmugasundram reviewed gene: SPATA5L1: Rating: GREEN; Mode of pathogenicity: ; Publications: 34626583; Phenotypes: SPATA5L1-associated sensorineural hearing loss and intellectual disability; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 SPATA5 Achchuthan Shanmugasundram reviewed gene: SPATA5: Rating: GREEN; Mode of pathogenicity: ; Publications: 26299366; Phenotypes: EPILEPSY, HEARING LOSS, AND INTELLECTUAL DEVELOPMENTAL DISORDER SYNDROME, OMIM:616577; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.11 SPATA5L1 Achchuthan Shanmugasundram gene: SPATA5L1 was added
gene: SPATA5L1 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
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 SPATA5L1-associated sensorineural hearing loss and intellectual disability
DDG2P v3.10 SPATA5 Achchuthan Shanmugasundram Tag new-gene-name tag was added to gene: SPATA5.
DDG2P v0.2 SPATA5 Rebecca Foulger reviewed gene: SPATA5: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.1 SPATA5 Rebecca Foulger gene: SPATA5 was added
gene: SPATA5 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: SPATA5 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SPATA5 were set to 26299366
Phenotypes for gene: SPATA5 were set to EPILEPSY, HEARING LOSS, AND MENTAL RETARDATION SYNDROME 616577