PanelApp
  1. Genes and Genomic Entities
  2. MED13L

MED13L

mediator complex subunit 13 like
OMIM: 608771, Gene2Phenotype

11 panels

Panel Reviews Mode of inheritance Details
11 panels

Green MED13L in Autism


Level 2: Neurology and neurodevelopmental disorders
Version 0.224

0 reviews Unknown
Sources
  • Victorian Clinical Genetics Services
  • Expert Review Green

Red MED13L in Cerebral Palsy


Level 2: Neurology and neurodevelopmental disorders
Version 1.400

1 review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Red
  • Literature
Phenotypes
  • Impaired intellectual development and distinctive facial features with or without cardiac defects, OMIM#616789

Green MED13L in Congenital Heart Defect


Level 2: Cardiovascular disorders
Version 0.474

0 reviews Unknown
Sources
  • Victorian Clinical Genetics Services
  • Expert Review Green

Green MED13L in Mendeliome


Version 1.3512

2 reviews MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Mental retardation and distinctive facial features with or without cardiac defects 616789
  • Transposition of the great arteries, dextro-looped 1 608808

Green MED13L in Pierre Robin Sequence


Level 2: Dysmorphic and congenital abnormality syndromes
Version 0.53

0 reviews Unknown
Sources
  • Victorian Clinical Genetics Services
  • Expert Review Green

Green MED13L in Genetic Epilepsy


Level 2: Neurology and neurodevelopmental disorders
Version 1.267

Component of the following Super Panels:

  • Progressive Neurological Conditions

    		•  3 reviews MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Green
    • Literature
    • Expert Review Green
    • Victorian Clinical Genetics Services
    Phenotypes
    • Impaired intellectual development and distinctive facial features with or without cardiac defects MIM#616789

    Green MED13L in Intellectual disability syndromic and non-syndromic


    Level 2: Neurology and neurodevelopmental disorders
    Version 1.410

    		1 review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Green
    • Genetic Health Queensland
    Phenotypes
    • syndromic intellectual disability MONDO:0000508

    Red MED13L in Additional findings_Paediatric


    Level 2: Screening
    Version 0.278

    		0 reviews MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Red
    • BabySeq Category C gene
    Phenotypes
    • Transposition of great arteries

    Amber MED13L in Clefting disorders

    Level 3: Dysmorphic disorders
    Level 2: Dysmorphic and congenital abnormality syndromes
    Version 0.278

    		1 review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
    Sources
    • Expert Review Amber
    • Victorian Clinical Genetics Services
    Phenotypes
    • Mental retardation and distinctive facial features with or without cardiac defects, 616789
    • Cleft palate
    • MRFACD

    Green MED13L in Fetal anomalies


    Version 1.465

    		2 reviews MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Green
    • Genomics England PanelApp
    Phenotypes
    • Impaired intellectual development and distinctive facial features with or without cardiac defects MIM#616789

    Red MED13L in Genomic newborn screening: BabyScreen+


    Level 2: Screening
    Version 1.140

    		0 reviews MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • BabySeq Category C gene
    • Expert Review Red
    Phenotypes
    • Transposition of great arteries