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| Beckwith-Wiedemann syndrome (BWS) and other congenital overgrowth disorders v1.99 | DIS3L2 | Ivone Leong Classified gene: DIS3L2 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Beckwith-Wiedemann syndrome (BWS) and other congenital overgrowth disorders v1.99 | DIS3L2 | Ivone Leong Added comment: Comment on list classification: New gene added by Zornitza Stark. There is enough evidence for this gene to be rated Green. It is also Green on Tumour predisposition - childhood onset (Version 2.13), Childhood solid tumours cancer susceptibility (Version 1.13), Skeletal dysplasia (Version 2.19), Fetal anomalies (Version 1.95), DDG2P (Version 2.9), Intellectual disability (Version 3.315) and Severe Paediatric Disorders (Version 1.11). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Beckwith-Wiedemann syndrome (BWS) and other congenital overgrowth disorders v1.99 | DIS3L2 | Ivone Leong Gene: dis3l2 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Beckwith-Wiedemann syndrome (BWS) and other congenital overgrowth disorders v1.98 | DIS3L2 | Ivone Leong Phenotypes for gene: DIS3L2 were changed from Perlman syndrome, MIM# 267000 to Perlman syndrome, 267000 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Beckwith-Wiedemann syndrome (BWS) and other congenital overgrowth disorders v1.94 | DIS3L2 |
Zornitza Stark gene: DIS3L2 was added gene: DIS3L2 was added to Beckwith-Wiedemann syndrome (BWS) and other congenital overgrowth disorders. Sources: Expert list Mode of inheritance for gene: DIS3L2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: DIS3L2 were set to 22306653; 28328139; 29950491 Phenotypes for gene: DIS3L2 were set to Perlman syndrome, MIM# 267000 Review for gene: DIS3L2 was set to GREEN gene: DIS3L2 was marked as current diagnostic Added comment: Neonatal macrosomia and organomegaly. At least 6 families reported (?two Dutch families founder effect), note three had CNVs. Mouse model. Sources: Expert list |
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