PanelApp
  1. Genes and Genomic Entities
  2. MED17

MED17

mediator complex subunit 17
OMIM: 603810, Gene2Phenotype

8 panels

Panel Reviews Mode of inheritance Details
8 panels

Green MED17 in Mendeliome


Version 1.3499

1 review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
  • Victorian Clinical Genetics Services
Phenotypes
  • Microcephaly, postnatal progressive, with seizures and brain atrophy, MIM#613668
Tags
  • founder

Green MED17 in Microcephaly


Level 2: Dysmorphic and congenital abnormality syndromes
Version 1.353

1 review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Microcephaly, postnatal progressive, with seizures and brain atrophy, MIM# 613668

Green MED17 in Genetic Epilepsy


Level 2: Neurology and neurodevelopmental disorders
Version 1.263

Component of the following Super Panels:

  • Progressive Neurological Conditions

    		•  1 review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Victorian Clinical Genetics Services
    • Australian Genomics Health Alliance Epilepsy Flagship
    • Victorian Clinical Genetics Services
    Phenotypes
    • Microcephaly, postnatal progressive, with seizures and brain atrophy, MIM#613668

    Green MED17 in Intellectual disability syndromic and non-syndromic


    Level 2: Neurology and neurodevelopmental disorders
    Version 1.398

    		1 review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Genetic Health Queensland
    • Victorian Clinical Genetics Services
    Phenotypes
    • Microcephaly, postnatal progressive, with seizures and brain atrophy, MIM#613668

    Green MED17 in Mackenzie's Mission_Reproductive Carrier Screening


    Level 2: Screening
    Version 0.110

    		0 reviews BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Mackenzie's Mission
    Phenotypes
    • Microcephaly, postnatal progressive, with seizures and brain atrophy, 613668 (3)

    Green MED17 in Fetal anomalies


    Version 1.465

    		1 review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Genomics England PanelApp
    • Genetic Health Queensland
    • Victorian Clinical Genetics Services
    Phenotypes
    • Microcephaly, postnatal progressive, with seizures and brain atrophy, MIM#613668

    Green MED17 in Prepair 1000+


    Level 2: Screening
    Version 2.14

    		1 review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Mackenzie's Mission
    Phenotypes
    • Microcephaly, postnatal progressive, with seizures and brain atrophy, MIM#613668

    Green MED17 in Prepair 500+


    Level 2: Screening
    Version 2.0

    		1 review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Mackenzie's Mission
    Phenotypes
    • Microcephaly, postnatal progressive, with seizures and brain atrophy, MIM#613668