PanelApp
  1. Genes and Genomic Entities
  2. MPLKIP

MPLKIP

M-phase specific PLK1 interacting protein
OMIM: 609188, Gene2Phenotype

10 panels

Panel Reviews Mode of inheritance Details
10 panels

Green MPLKIP in Chromosome Breakage Disorders


Level 2: Dysmorphic and congenital abnormality syndromes
Version 1.24

1 review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Trichothiodystrophy 4, nonphotosensitive, MIM# 234050
  • MONDO:0021013

Green MPLKIP in Mendeliome


Version 1.3512

1 review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Trichothiodystrophy 4, nonphotosensitive, MIM# 234050
  • MONDO:0021013

Green MPLKIP in Intellectual disability syndromic and non-syndromic


Level 2: Neurology and neurodevelopmental disorders
Version 1.410

1 review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Genetic Health Queensland
Phenotypes
  • Trichothiodystrophy 4, nonphotosensitive, MIM# 234050
  • MONDO:0021013

Red MPLKIP in Leukodystrophy - paediatric


Level 2: Neurology and neurodevelopmental disorders
Version 0.333

Component of the following Super Panels:

  • Leukodystrophy_Superpanel
  • Progressive Neurological Conditions

    		•  1 review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert list
    Phenotypes
    • Trichothiodystrophy 4, nonphotosensitive 234050

    Green MPLKIP in Ectodermal Dysplasia


    Level 2: Dermatological disorders
    Version 0.102

    		1 review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Expert Review Green
    • Royal Melbourne Hospital
    • Victorian Clinical Genetics Services
    Phenotypes
    • Trichothiodystrophy 4, nonphotosensitive

    Green MPLKIP 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
    • Trichothiodystrophy 4, nonphotosensitive, 234050 (3)

    Green MPLKIP in Hair disorders


    Level 2: Dermatological disorders
    Version 0.81

    		1 review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Expert Review Green
    • Literature
    • Victorian Clinical Genetics Services
    Phenotypes
    • Trichothiodystrophy 4, nonphotosensitive, 234050

    Green MPLKIP in Growth failure


    Version 1.83

    		1 review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Expert list
    Phenotypes
    • Trichothiodystrophy 4, nonphotosensitive, MIM# 234050
    • MONDO:0021013

    Green MPLKIP in Fetal anomalies


    Version 1.465

    		2 reviews BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Genomics England PanelApp
    • Genetic Health Queensland
    Phenotypes
    • Trichothiodystrophy 4, nonphotosensitive, MIM# 234050
    • MONDO:0021013

    Green MPLKIP in Prepair 1000+


    Level 2: Screening
    Version 2.14

    		1 review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Mackenzie's Mission
    Phenotypes
    • Trichothiodystrophy 4, nonphotosensitive MIM#234050