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Hair disorders

Gene: MPLKIP

Green List (high evidence)
MPLKIP (M-phase specific PLK1 interacting protein)
EnsemblGeneIds (GRCh38): ENSG00000168303
EnsemblGeneIds (GRCh37): ENSG00000168303
OMIM: 609188, Gene2Phenotype
MPLKIP is in 10 panels

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

Trichothiodystrophy is a rare autosomal recessive disorder in which patients have brittle, sulfur-deficient hair that displays a diagnostic alternating light and dark banding pattern, called 'tiger tail banding,' under polarizing microscopy. TTD patients display a wide variety of clinical features, including cutaneous, neurologic, and growth abnormalities. Common additional clinical features are ichthyosis, intellectual/developmental disabilities, decreased fertility, abnormal characteristics at birth, ocular abnormalities, short stature, and infections.

Gene previously known as c7orf11.

More than 5 unrelated families reported.
Created: 22 Apr 2021, 11:14 p.m. | Last Modified: 22 Apr 2021, 11:14 p.m.
Panel Version: 0.7283

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Trichothiodystrophy 4, nonphotosensitive, MIM# 234050; MONDO:0021013

Publications

Created: 22 Apr 2021, 11:14 p.m.
Last Modified: 22 Apr 2021, 11:14 p.m.
Panel version: Imported from Mendeliome panel version 0.7283

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert Review Green
  • Literature
  • Victorian Clinical Genetics Services
Phenotypes
  • Trichothiodystrophy 4, nonphotosensitive, 234050
OMIM
609188
Clinvar variants
Variants in MPLKIP
Penetrance
None
Publications
Panels with this gene

History Filter Activity

28 Jul 2020, Gel status: 3

Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes

Bryony Thompson (Royal Melbourne Hospital)

gene: MPLKIP was added gene: MPLKIP was added to Hair disorders. Sources: Literature,Expert Review Green Mode of inheritance for gene: MPLKIP was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: MPLKIP were set to 31332722 Phenotypes for gene: MPLKIP were set to Trichothiodystrophy 4, nonphotosensitive, 234050