Activity

Filter

Cancel
Date Panel Item Activity
8 actions
Intellectual disability - microarray and sequencing v2.468 BPTF Louise Daugherty Source Victorian Clinical Genetics Services was added to BPTF.
Intellectual disability - microarray and sequencing v2.429 BPTF Louise Daugherty Classified gene: BPTF as Green List (high evidence)
Intellectual disability - microarray and sequencing v2.429 BPTF Louise Daugherty Added comment: Comment on list classification: New gene added by external expert and reviewed by curation team, enough evidence to support gene-disease association and relevance to this panel to rate this gene Green
Intellectual disability - microarray and sequencing v2.429 BPTF Louise Daugherty Gene: bptf has been classified as Green List (High Evidence).
Intellectual disability - microarray and sequencing v2.428 BPTF Louise Daugherty edited their review of gene: BPTF: Added comment: New gene added by external expert. From OMIM; Stankiewicz et al. 2017 (PMID: 28942966) reported 10 unrelated patients, ranging from 2 to 13 years of age, with a similar neurodevelopmental disorder. All patients had delayed psychomotor development and intellectual disability with delayed speech.; Changed rating: GREEN
Intellectual disability - microarray and sequencing v2.428 BPTF Louise Daugherty Added comment: Comment on phenotypes: added OMIM MIMid
Intellectual disability - microarray and sequencing v2.428 BPTF Louise Daugherty Phenotypes for gene: BPTF were changed from Neurodevelopmental disorder with dysmorphic facies and distal limb anomalies to Neurodevelopmental disorder with dysmorphic facies and distal limb anomalies, 617755; intellectual disability
Intellectual disability - microarray and sequencing BPTF Zornitza Stark Added gene to panel