Structural eye disease
Gene: MPLKIPEnsemblGeneIds (GRCh38): ENSG00000168303
EnsemblGeneIds (GRCh37): ENSG00000168303
OMIM: 609188, Gene2Phenotype
MPLKIP is in 9 panels
2 reviews
Nicola Ragge (Birmingham Women's and Children's NHS Foundation Hospital Trust)
Shah one family with corneal opacity; syndrome is associated with microcornea/microphthalmia so need to keep in mindCreated: 19 Jun 2019, 3:32 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
TRICHOTHIODYSTROPHY 4, NONPHOTOSENSITIVE; 234050
Publications
Ivone Leong (Genomics England Curator)
Submitted on behalf of Professor Nicola Ragge (Wessex and West Midlands GLH). Shah one family with corneal opacity; syndrome is associated with microcornea/microphthalmia so need to keep in mindCreated: 17 Apr 2019, 3:30 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
TRICHOTHIODYSTROPHY 4, NONPHOTOSENSITIVE, 234050
Publications
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- NHS GMS
- Expert Review Red
- Phenotypes
-
- TRICHOTHIODYSTROPHY 4, NONPHOTOSENSITIVE, 234050
- OMIM
- 609188
- Clinvar variants
- Variants in MPLKIP
- Penetrance
- None
- Publications
- Panels with this gene
History Filter Activity
Added New Source, Set mode of inheritance, Set Phenotypes, Set publications
Ivone Leong (Genomics England Curator)Source NHS GMS was added to MPLKIP. Mode of inheritance for gene MPLKIP was changed from to BIALLELIC, autosomal or pseudoautosomal Added phenotypes TRICHOTHIODYSTROPHY 4, NONPHOTOSENSITIVE, 234050 for gene: MPLKIP Publications for gene MPLKIP were changed from to 21959366
Created, Added New Source, Set mode of inheritance
Ellen McDonagh (Genomics England Curator)gene: MPLKIP was added gene: MPLKIP was added to Structural eye disease. Sources: Expert Review Red Mode of inheritance for gene: MPLKIP was set to