DIS3L2

DIS3 like 3'-5' exoribonuclease 2
OMIM: 614184, Gene2Phenotype

15 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 15 panels
Green DIS3L2 in Macrocephaly_Megalencephaly Level 2: Dysmorphic and congenital abnormality syndromes Version 0.140	review	Unknown	Sources Victorian Clinical Genetics Services Expert Review Green
Green DIS3L2 in Mendeliome Version 1.1891	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Perlman syndrome MIM# 267000
Green DIS3L2 in Overgrowth Level 2: Dysmorphic and congenital abnormality syndromes Version 1.12	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Perlman syndrome, MIM# 267000 Tags SV/CNV
Green DIS3L2 in Cancer Predisposition_Paediatric Level 2: Cancer Version 0.131	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Phenotypes Perlman syndrome, MIM# 267000
Green DIS3L2 in Callosome Level 2: Neurology and neurodevelopmental disorders Version 0.522	review	Unknown	Sources Victorian Clinical Genetics Services Expert Review Green
Green DIS3L2 in Intellectual disability syndromic and non-syndromic Level 2: Neurology and neurodevelopmental disorders Version 0.6063	review	Unknown	Sources Genetic Health Queensland Expert Review Green
Green DIS3L2 in Wilms Tumour Predisposition Level 2: Cancer predisposition Version 0.39	review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Wilms tumour, MONDO:0006058, DIS3L2-related
Green DIS3L2 in Skeletal dysplasia Level 3: Skeletal dysplasias Level 2: Skeletal disorders Version 0.285	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Illumina TruGenome Clinical Sequencing Services Expert Review Green Radboud University Medical Center, Nijmegen NHS GMS Expert list Victorian Clinical Genetics Services Phenotypes Perlman syndrome 267000
Red DIS3L2 in NCGC Version 0.2	review	Other	Sources NCGC Phenotypes Renal hamartomas nephroblastomatosis and fetal gigantism
Red DIS3L2 in TCGA_PANCAN_2018 Version 0.2	review	Other	Sources TCGA_PANCAN_2018 Phenotypes Renal hamartomas nephroblastomatosis and fetal gigantism
Green DIS3L2 in Mackenzie's Mission_Reproductive Carrier Screening Level 2: Screening Version 0.109	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Perlman syndrome, 267000 (3)
Red DIS3L2 in Clefting disorders Level 3: Dysmorphic disorders Level 2: Dysmorphic and congenital abnormality syndromes Version 0.252	review	BIALLELIC, autosomal or pseudoautosomal	Sources Illumina TruGenome Clinical Sequencing Services Expert list Phenotypes Perlman syndrome, 267000
Green DIS3L2 in Fetal anomalies Version 1.255	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genomics England PanelApp Phenotypes Perlman syndrome MIM# 267000
Green DIS3L2 in Prepair 1000+ Level 2: Screening Version 1.9	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Perlman syndrome, 267000 (3)
Green DIS3L2 in Prepair 500+ Level 2: Screening Version 1.1	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Perlman syndrome, 267000 (3)