Activity
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9 actions
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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 v1.68 | CDKN1C | Louise Daugherty Phenotypes for gene: CDKN1C were changed from Beckwith-Wiedemann syndrome; OMIM 130650; IMAGE syndrome, 614732 to Beckwith-Wiedemann syndrome, 130650; IMAGE syndrome, 614732 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Beckwith-Wiedemann syndrome (BWS) and other congenital overgrowth disorders v1.67 | CDKN1C | Louise Daugherty Publications for gene: CDKN1C were set to 20803657; 8841187; 20301568; 22585446; 26077438; 9341892; 26077438; 11414765; 10424811 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Beckwith-Wiedemann syndrome (BWS) and other congenital overgrowth disorders v1.66 | CDKN1C | Louise Daugherty Publications for gene: CDKN1C were set to PMID: 20803657; 8841187; 20301568; 22585446; 26077438; 9341892; 26077438; 11414765; 10424811 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Beckwith-Wiedemann syndrome (BWS) and other congenital overgrowth disorders v1.65 | CDKN1C | Louise Daugherty edited their review of gene: CDKN1C: Added comment: Review and Green rating from Kate Tatton-Brown April 2017: Note the mutations that cause Beckwith are different from the clustered CDKN1C mutations that cause IMAGe syndrome; Changed publications: 20301568, 22585446, 26077438, 9341892, 26077438, 11414765, 10424811, 9311733 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Beckwith-Wiedemann syndrome (BWS) and other congenital overgrowth disorders | CDKN1C | Helen Brittain classified CDKN1C as green | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Beckwith-Wiedemann syndrome (BWS) and other congenital overgrowth disorders | CDKN1C | Helen Brittain reviewed CDKN1C | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Beckwith-Wiedemann syndrome (BWS) and other congenital overgrowth disorders | CDKN1C | Louise Daugherty commented on CDKN1C | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Beckwith-Wiedemann syndrome (BWS) and other congenital overgrowth disorders | CDKN1C | Louise Daugherty reviewed CDKN1C | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||