Beckwith-Wiedemann syndrome (BWS) and other congenital overgrowth disordersGene: DIS3L2
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).
Created: 21 Sep 2020, 10:05 a.m. | Last Modified: 21 Sep 2020, 10:05 a.m.
Panel Version: 1.99
Neonatal macrosomia and organomegaly. At least 6 families reported (?two Dutch families founder effect), note three had CNVs. Mouse model.
Sources: Expert list
Created: 4 Jul 2020, 3:05 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Perlman syndrome, MIM# 267000
Variants in this GENE are reported as part of current diagnostic practice
Gene: dis3l2 has been classified as Green List (High Evidence).
Phenotypes for gene: DIS3L2 were changed from Perlman syndrome, MIM# 267000 to Perlman syndrome, 267000
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