Growth failure
Gene: MPLKIPEnsemblGeneIds (GRCh38): ENSG00000168303
EnsemblGeneIds (GRCh37): ENSG00000168303
OMIM: 609188, Gene2Phenotype
MPLKIP is in 10 panels
1 review
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)
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.
Sources: Expert listCreated: 20 Aug 2021, 7:27 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Trichothiodystrophy 4, nonphotosensitive, MIM# 234050; MONDO:0021013
Publications
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- Expert list
- Phenotypes
-
- Trichothiodystrophy 4, nonphotosensitive, MIM# 234050
- MONDO:0021013
- OMIM
- 609188
- Clinvar variants
- Variants in MPLKIP
- Penetrance
- None
- Publications
- Panels with this gene
History Filter Activity
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: mplkip has been classified as Green List (High Evidence).
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: mplkip has been classified as Green List (High Evidence).
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)gene: MPLKIP was added gene: MPLKIP was added to Growth failure in early childhood. Sources: Expert list Mode of inheritance for gene: MPLKIP was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: MPLKIP were set to 15645389; 16977596 Phenotypes for gene: MPLKIP were set to Trichothiodystrophy 4, nonphotosensitive, MIM# 234050; MONDO:0021013 Review for gene: MPLKIP was set to GREEN