Genes in panel
STRs in panel
Prev Next
Regions in panel
Prev Next

Prepair 1000+

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

Andrew Coventry (Victorian Clinical Genetics Services)

Green List (high evidence)

Established gene disease relationship. Condition where patients have brittle, sulfur-deficient hair - '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. Onset from birth/early childhood, features variable between those affected, but severe presentations.
Created: 11 Sep 2024, 4:29 a.m. | Last Modified: 11 Sep 2024, 4:29 a.m.
Panel Version: 1.287

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Trichothiodystrophy 4, nonphotosensitive MIM#234050

Publications

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Trichothiodystrophy 4, nonphotosensitive, 234050 (3)
OMIM
609188
Clinvar variants
Variants in MPLKIP
Penetrance
None
Panels with this gene

History Filter Activity

1 Jun 2022, Gel status: 3

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

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: MPLKIP was added gene: MPLKIP was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green Mode of inheritance for gene: MPLKIP was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: MPLKIP were set to Trichothiodystrophy 4, nonphotosensitive, 234050 (3)