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Beckwith-Wiedemann syndrome (BWS) and other congenital overgrowth disorders v1.110 PIK3CA Ivone Leong Classified gene: PIK3CA as Green List (high evidence)
Beckwith-Wiedemann syndrome (BWS) and other congenital overgrowth disorders v1.110 PIK3CA Ivone Leong Added comment: Comment on list classification: Promoted from Amber to Green based on expert reviews. This gene is associated with a relevant phenotype in OMIM and Gen2Phenotype.
Beckwith-Wiedemann syndrome (BWS) and other congenital overgrowth disorders v1.110 PIK3CA Ivone Leong Gene: pik3ca has been classified as Green List (High Evidence).
Beckwith-Wiedemann syndrome (BWS) and other congenital overgrowth disorders v1.109 PIK3CA Ivone Leong Phenotypes for gene: PIK3CA were changed from Human overgrowth syndrome type; Overgrowth with Intellectual disability to Human overgrowth syndrome type; Overgrowth with Intellectual disability; CLOVES: CONGENITAL LIPOMATOUS OVERGROWTH, VASCULAR MALFORMATIONS, AND EPIDERMAL NEVI
Beckwith-Wiedemann syndrome (BWS) and other congenital overgrowth disorders v1.108 PIK3CA Ivone Leong Mode of inheritance for gene: PIK3CA was changed from Other to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Beckwith-Wiedemann syndrome (BWS) and other congenital overgrowth disorders v1.94 PIK3CA Zornitza Stark reviewed gene: PIK3CA: Rating: GREEN; Mode of pathogenicity: None; Publications: 23246288; Phenotypes: Cowden syndrome 5, MIM# 615108; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Beckwith-Wiedemann syndrome (BWS) and other congenital overgrowth disorders v1.79 PIK3CA Louise Daugherty Classified gene: PIK3CA as Amber List (moderate evidence)
Beckwith-Wiedemann syndrome (BWS) and other congenital overgrowth disorders v1.79 PIK3CA Louise Daugherty Gene: pik3ca has been classified as Amber List (Moderate Evidence).
Beckwith-Wiedemann syndrome (BWS) and other congenital overgrowth disorders v1.76 PIK3CA Louise Daugherty Publications for gene: PIK3CA were set to 28475857
Beckwith-Wiedemann syndrome (BWS) and other congenital overgrowth disorders v1.75 PIK3CA Louise Daugherty Publications for gene: PIK3CA were set to
Beckwith-Wiedemann syndrome (BWS) and other congenital overgrowth disorders v1.74 PIK3CA Louise Daugherty Phenotypes for gene: PIK3CA were changed from Human overgrowth syndrome type to Human overgrowth syndrome type; Overgrowth with Intellectual disability
Beckwith-Wiedemann syndrome (BWS) and other congenital overgrowth disorders v1.73 PIK3CA Louise Daugherty Mode of inheritance for gene: PIK3CA was changed from Unknown to Other
Beckwith-Wiedemann syndrome (BWS) and other congenital overgrowth disorders v1.72 PIK3CA Louise Daugherty edited their review of gene: PIK3CA: Added comment: Review and Green rating from Kate Tatton-Brown April 2017: Activating mutations. We wil be reporting variants in clinical practice soon; Changed rating: GREEN
Beckwith-Wiedemann syndrome (BWS) and other congenital overgrowth disorders PIK3CA Louise Daugherty added PIK3CA to panel
Beckwith-Wiedemann syndrome (BWS) and other congenital overgrowth disorders PIK3CA Louise Daugherty reviewed PIK3CA