Activity

Filter

Cancel
Date Panel Item Activity
6 actions
Intellectual disability syndromic and non-syndromic v0.1545 TRRAP Zornitza Stark Marked gene: TRRAP as ready
Intellectual disability syndromic and non-syndromic v0.1545 TRRAP Zornitza Stark Gene: trrap has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.527 TRRAP Chirag Patel Classified gene: TRRAP as Green List (high evidence)
Intellectual disability syndromic and non-syndromic v0.527 TRRAP Chirag Patel Gene: trrap has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.526 TRRAP Chirag Patel commented on gene: TRRAP: 31 unrelated patients with global developmental delay and variably impaired intellectual development associated with de novo heterozygous mutations of TRRAP.
Intellectual disability syndromic and non-syndromic v0.526 TRRAP Chirag Patel gene: TRRAP was added
gene: TRRAP was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert list
Mode of inheritance for gene: TRRAP was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: TRRAP were set to PubMed: 30827496
Phenotypes for gene: TRRAP were set to Developmental delay with or without dysmorphic facies and autism; OMIM #618454
Review for gene: TRRAP was set to GREEN
Added comment: Sources: Expert list