Activity

Filter

Cancel
Date Panel Item Activity
8 actions
Cerebral Palsy v1.193 AUTS2 Clare van Eyk reviewed gene: AUTS2: Rating: ; Mode of pathogenicity: None; Publications: PMID: 38693247; Phenotypes: Intellectual developmental disorder, autosomal dominant 26, MIM# 615834; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Cerebral Palsy v1.21 AUTS2 Zornitza Stark Phenotypes for gene: AUTS2 were changed from Mental retardation, autosomal dominant 26, MIM# 615834 to Intellectual developmental disorder, autosomal dominant 26, MIM# 615834
Cerebral Palsy v1.20 AUTS2 Zornitza Stark edited their review of gene: AUTS2: Changed phenotypes: Intellectual developmental disorder, autosomal dominant 26, MIM# 615834
Cerebral Palsy v0.91 AUTS2 Zornitza Stark Marked gene: AUTS2 as ready
Cerebral Palsy v0.91 AUTS2 Zornitza Stark Gene: auts2 has been classified as Green List (High Evidence).
Cerebral Palsy v0.91 AUTS2 Zornitza Stark Classified gene: AUTS2 as Green List (high evidence)
Cerebral Palsy v0.91 AUTS2 Zornitza Stark Gene: auts2 has been classified as Green List (High Evidence).
Cerebral Palsy v0.90 AUTS2 Zornitza Stark gene: AUTS2 was added
gene: AUTS2 was added to Cerebral Palsy. Sources: Expert list
SV/CNV tags were added to gene: AUTS2.
Mode of inheritance for gene: AUTS2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: AUTS2 were set to 23332918; 27075013
Phenotypes for gene: AUTS2 were set to Mental retardation, autosomal dominant 26, MIM# 615834
Review for gene: AUTS2 was set to GREEN
Added comment: Multiple individuals reported with ID/autism, but 'cerebral palsy' was the original clinical diagnosis in some.

Predominantly deletions reported, so may not be tractable by all NGS assays.
Sources: Expert list