MPLKIP

M-phase specific PLK1 interacting protein
OMIM: 609188, ClinGen, DECIPHER

10 panels

Panel Reviews Mode of inheritance Details
10 panels

Green MPLKIP in Chromosome Breakage Disorders


Level 2: Dysmorphic and congenital abnormality syndromes
Version 2.0

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 2.0

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 2.0

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


Level 2: Neurology and neurodevelopmental disorders
Version 1.0

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

Green MPLKIP in Ectodermal Dysplasia


Level 2: Dermatological disorders
Version 1.0

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 1.0

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 1.0

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 2.0

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 2.0

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 3.0

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