Skeletal dysplasia
Gene: DIS3L2
not listed in SD nosology paper. Congenital overgrowth disorders with similarities to BWS. Several cases reported. Green if considered SD.; Review on behalf of Tracy LesterCreated: 6 Mar 2019, 11:44 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Perlman syndrome 267000
Publications
This gene was part of an initial gene list collated by Tracy Lester, Oxford Medical Genetics Laboratories, Oxford University Hospitals NHS Foundation Trust, February 2019 on behalf of the GMS Musculoskeletal Specialist Group; Gene symbol submitted: DIS3L2; Initial rating suggestion: green if considered SDCreated: 6 Mar 2019, 11:36 a.m.
Comment when marking as ready: Associated with phenotype in OMIM and G2P. Numerous variants reportedCreated: 28 Jul 2016, 9:16 a.m.
Tier 2Created: 17 Jun 2016, 8:03 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Perlman syndrome 267000
Variants in this GENE are reported as part of current diagnostic practice
Added phenotypes Perlman syndrome 267000 for gene: DIS3L2 Publications for gene DIS3L2 were changed from to 22306653
Source NHS GMS was added to DIS3L2. Rating Changed from Green List (high evidence) to Green List (high evidence)
Promoted to version 1 9th August 2016
This gene has been classified as Green List (High Evidence).
This gene has been classified as Green List (High Evidence).
DIS3L2 was added to Unexplained skeletal dysplasiapanel. Sources: Expert list,Illumina TruGenome Clinical Sequencing Services,Radboud University Medical Center, Nijmegen
Phenotypes for DIS3L2 were set to Perlman syndrome 267000
Mode of inheritance for DIS3L2 was changed to BIALLELIC, autosomal or pseudoautosomal
DIS3L2 was added to Unexplained skeletal dysplasiapanel. Sources:
DIS3L2 was created by sleigh