Activity

Filter

Cancel
Date Panel Item Activity
9 actions
Regression v0.573 EEFSEC Zornitza Stark Phenotypes for gene: EEFSEC were changed from Neurodevelopmental disorder, MONDO:0700092, EEFSEC-related to Neurodevelopmental disorder with progressive spasticity and brain abnormalities, MIM#621102
Regression v0.572 EEFSEC Zornitza Stark edited their review of gene: EEFSEC: Changed phenotypes: Neurodevelopmental disorder with progressive spasticity and brain abnormalities, MIM#621102
Regression v0.572 EEFSEC Zornitza Stark Classified gene: EEFSEC as Green List (high evidence)
Regression v0.572 EEFSEC Zornitza Stark Gene: eefsec has been classified as Green List (High Evidence).
Regression v0.572 EEFSEC Zornitza Stark Marked gene: EEFSEC as ready
Regression v0.572 EEFSEC Zornitza Stark Gene: eefsec has been classified as Green List (High Evidence).
Regression v0.572 EEFSEC Zornitza Stark Classified gene: EEFSEC as Green List (high evidence)
Regression v0.572 EEFSEC Zornitza Stark Gene: eefsec has been classified as Green List (High Evidence).
Regression v0.571 EEFSEC Zornitza Stark gene: EEFSEC was added
gene: EEFSEC was added to Regression. Sources: Literature
Mode of inheritance for gene: EEFSEC was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: EEFSEC were set to 39753114
Phenotypes for gene: EEFSEC were set to Neurodevelopmental disorder, MONDO:0700092, EEFSEC-related
Review for gene: EEFSEC was set to GREEN
Added comment: Nine individuals from 8 unrelated families reported with bi-allelic variants in this gene and progressive neurodevelopmental disorder manifesting with global developmental delay, progressive spasticity, ataxia, and seizures. Cerebral MRI primarily demonstrated a cerebellar pathology, including hypoplasia and progressive atrophy. In line with the clinical phenotype, an eEFSec-RNAi Drosophila model displays progressive impairment of motor function, which is reflected in the synaptic defects in this model organisms.
Sources: Literature