DIS3L2:Ensemblv90

Panel	Reviews	Mode of inheritance	Details
Filter panels 28 panels
Green DIS3L2 in Macrocephaly_Megalencephaly Level 2: Dysmorphic and congenital abnormality syndromes Version 0.153	0 reviews	Unknown	Sources Victorian Clinical Genetics Services Expert Review Green
Green DIS3L2 in Mendeliome Version 1.3802	1 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 1.16	1 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 0.132	1 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 0.578	0 reviews	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 1.508	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genetic Health Queensland Phenotypes Perlman syndrome MONDO:0009965
Green DIS3L2 in Wilms Tumour Predisposition Level 2: Cancer predisposition Version 0.40	2 reviews	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 0.365	1 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 0.3	0 reviews	Other	Sources NCGC Phenotypes Renal hamartomas nephroblastomatosis and fetal gigantism
Red DIS3L2 in TCGA_PANCAN_2018 Version 0.3	0 reviews	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 0.111	0 reviews	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 0.293	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Illumina TruGenome Clinical Sequencing Services Expert list Phenotypes Perlman syndrome, 267000
Green DIS3L2 in Fetal anomalies Version 1.482	1 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 2.15	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Perlman syndrome MIM# 267000
Green DIS3L2 in Prepair 500+ Level 2: Screening Version 2.0	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Perlman syndrome MIM# 267000
Green DIS3L2 in Macrocephaly_Megalencephaly Level 2: Dysmorphic and congenital abnormality syndromes Version 1.0	0 reviews	Unknown	Sources Expert Review Green Victorian Clinical Genetics Services
Green DIS3L2 in Overgrowth Level 2: Dysmorphic and congenital abnormality syndromes Version 2.0	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Victorian Clinical Genetics Services Expert Review Green Phenotypes Perlman syndrome, MIM# 267000 Tags SV/CNV
Green DIS3L2 in Cancer Predisposition_Paediatric Level 2: Cancer Version 1.0	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Phenotypes Perlman syndrome, MIM# 267000
Green DIS3L2 in Callosome Level 2: Neurology and neurodevelopmental disorders Version 1.0	0 reviews	Unknown	Sources Expert Review Green Victorian Clinical Genetics Services
Green DIS3L2 in Intellectual disability syndromic and non-syndromic Level 2: Neurology and neurodevelopmental disorders Version 2.0	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Genetic Health Queensland Expert Review Green Phenotypes Perlman syndrome MONDO:0009965
Green DIS3L2 in Wilms Tumour Predisposition Level 2: Cancer predisposition Version 1.0	2 reviews	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Victorian Clinical Genetics Services Expert Review Green Phenotypes Wilms tumour, MONDO:0006058, DIS3L2-related
Green DIS3L2 in Skeletal dysplasia Level 3: Skeletal dysplasias Level 2: Skeletal disorders Version 1.0	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Victorian Clinical Genetics Services Expert list NHS GMS Radboud University Medical Center, Nijmegen Expert Review Green Illumina TruGenome Clinical Sequencing Services Expert Review Green Phenotypes Perlman syndrome 267000
Red DIS3L2 in TCGA_PANCAN_2018 Version 1.0	0 reviews	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 1.0	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Mackenzie's Mission Expert Review Green Phenotypes Perlman syndrome, 267000 (3)
Red DIS3L2 in Clefting disorders Level 3: Dysmorphic disorders Level 2: Dysmorphic and congenital abnormality syndromes Version 1.0	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Illumina TruGenome Clinical Sequencing Services Phenotypes Perlman syndrome, 267000
Green DIS3L2 in Fetal anomalies Version 2.0	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Genomics England PanelApp Expert Review Green Phenotypes Perlman syndrome MIM# 267000
Green DIS3L2 in Prepair 1000+ Level 2: Screening Version 3.0	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Mackenzie's Mission Expert Review Green Phenotypes Perlman syndrome MIM# 267000
Green DIS3L2 in Prepair 500+ Level 2: Screening Version 3.0	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Mackenzie's Mission Expert Review Green Phenotypes Perlman syndrome MIM# 267000

DIS3L2:Ensemblv90

28 panels

Green DIS3L2 in Macrocephaly_Megalencephaly

Sources

Green DIS3L2 in Mendeliome

Sources

Phenotypes

Green DIS3L2 in Overgrowth

Sources

Phenotypes

Tags

Green DIS3L2 in Cancer Predisposition_Paediatric

Sources

Phenotypes

Green DIS3L2 in Callosome

Sources

Green DIS3L2 in Intellectual disability syndromic and non-syndromic

Sources

Phenotypes

Green DIS3L2 in Wilms Tumour Predisposition

Sources

Phenotypes

Green DIS3L2 in Skeletal dysplasia

Sources

Phenotypes

Red DIS3L2 in NCGC

Sources

Phenotypes

Red DIS3L2 in TCGA_PANCAN_2018

Sources

Phenotypes

Green DIS3L2 in Mackenzie's Mission_Reproductive Carrier Screening

Sources

Phenotypes

Red DIS3L2 in Clefting disorders

Sources

Phenotypes

Green DIS3L2 in Fetal anomalies

Sources

Phenotypes

Green DIS3L2 in Prepair 1000+

Sources

Phenotypes

Green DIS3L2 in Prepair 500+

Sources

Phenotypes

Green DIS3L2 in Macrocephaly_Megalencephaly

Sources

Green DIS3L2 in Overgrowth

Sources

Phenotypes

Tags

Green DIS3L2 in Cancer Predisposition_Paediatric

Sources

Phenotypes

Green DIS3L2 in Callosome

Sources

Green DIS3L2 in Intellectual disability syndromic and non-syndromic

Sources

Phenotypes

Green DIS3L2 in Wilms Tumour Predisposition

Sources

Phenotypes

Green DIS3L2 in Skeletal dysplasia

Sources

Phenotypes

Red DIS3L2 in TCGA_PANCAN_2018

Sources

Phenotypes

Green DIS3L2 in Mackenzie's Mission_Reproductive Carrier Screening

Sources

Phenotypes

Red DIS3L2 in Clefting disorders

Sources

Phenotypes

Green DIS3L2 in Fetal anomalies

Sources

Phenotypes

Green DIS3L2 in Prepair 1000+

Sources