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Beckwith-Wiedemann syndrome (BWS) and other congenital overgrowth disorders v1.90 KCNQ1OT1 Louise Daugherty commented on gene: KCNQ1OT1: from OMIM : In 2 related individuals with Beckwith-Wiedemann syndrome, Niemitz et al. (2004) described 1 case where the deletion was maternally inherited; in the other, it was paternally inherited. In the case of maternal inheritance, the deletion caused BWS with silencing of p57(KIP2) (CDKN1C; 600856), indicating that an element important for the regulation of p57(KIP2) expression had been deleted. When inherited paternally, there was no BWS phenotype, suggesting that the LIT1 RNA itself is not necessary for normal development in humans.
Beckwith-Wiedemann syndrome (BWS) and other congenital overgrowth disorders v1.89 KCNQ1OT1 Louise Daugherty Classified gene: KCNQ1OT1 as Amber List (moderate evidence)
Beckwith-Wiedemann syndrome (BWS) and other congenital overgrowth disorders v1.89 KCNQ1OT1 Louise Daugherty Gene: kcnq1ot1 has been classified as Amber List (Moderate Evidence).
Beckwith-Wiedemann syndrome (BWS) and other congenital overgrowth disorders v1.88 KCNQ1OT1 Louise Daugherty Phenotypes for gene: KCNQ1OT1 were changed from Beckwith-Wiedemann Syndrome to Beckwith-Wiedemann Syndrome, 130650
Beckwith-Wiedemann syndrome (BWS) and other congenital overgrowth disorders v1.87 KCNQ1OT1 Louise Daugherty Mode of inheritance for gene: KCNQ1OT1 was changed from Other - please specifiy in evaluation comments to MONOALLELIC, autosomal or pseudoautosomal, paternally imprinted (maternal allele expressed)
Beckwith-Wiedemann syndrome (BWS) and other congenital overgrowth disorders v1.86 KCNQ1OT1 Louise Daugherty Classified gene: KCNQ1OT1 as Amber List (moderate evidence)
Beckwith-Wiedemann syndrome (BWS) and other congenital overgrowth disorders v1.86 KCNQ1OT1 Louise Daugherty Gene: kcnq1ot1 has been classified as Amber List (Moderate Evidence).
Beckwith-Wiedemann syndrome (BWS) and other congenital overgrowth disorders v1.71 KCNQ1OT1 Louise Daugherty reviewed gene: KCNQ1OT1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Beckwith-Wiedemann syndrome (BWS) and other congenital overgrowth disorders v1.71 KCNQ1OT1 Louise Daugherty Publications for gene: KCNQ1OT1 were set to PMID: 12949703
Beckwith-Wiedemann syndrome (BWS) and other congenital overgrowth disorders KCNQ1OT1 Ellen McDonagh commented on KCNQ1OT1