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  3. MPLKIP
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Severe microcephaly

Gene: MPLKIP

Amber List (moderate evidence)
MPLKIP (M-phase specific PLK1 interacting protein)
EnsemblGeneIds (GRCh38): ENSG00000168303
EnsemblGeneIds (GRCh37): ENSG00000168303
OMIM: 609188, Gene2Phenotype
MPLKIP is in 9 panels

1 review

Ivone Leong (Genomics England Curator)

I don't know

This gene is associated with a phenotype in OMIM and Gene2Phenotype. Microcephaly has been reported for 6/20 cases (2 cases <-3SD), growth retardation 15/20 and 7/20 had gonadal dysfunction. There is not enough evidence to support a gene-disease association, this gene has been given an Amber rating.
Sources: Literature
Created: 8 Jun 2021, 2:12 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Trichothiodystrophy 4, nonphotosensitive, OMIM:234050; microcephaly (disease), MONDO:0001149

Publications

Created: 8 Jun 2021, 2:12 p.m.

Panel version: 2.203

History Filter Activity

8 Jun 2021, Gel status: 2

Set Phenotypes

Ivone Leong (Genomics England Curator)

Phenotypes for gene: MPLKIP were changed from Trichothiodystrophy 4, nonphotosensitive, OMIM:234050; microcephaly (disease), MONDO:0001149 to microcephaly (disease), MONDO:0001149

8 Jun 2021, Gel status: 2

Entity classified by Genomics England curator

Ivone Leong (Genomics England Curator)

Gene: mplkip has been classified as Amber List (Moderate Evidence).

8 Jun 2021, Gel status: 1

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

Ivone Leong (Genomics England Curator)

gene: MPLKIP was added gene: MPLKIP was added to Severe microcephaly. Sources: Literature Mode of inheritance for gene: MPLKIP was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: MPLKIP were set to 25655951; 25290684; 26518168; 25606444; 26880286; 29421601; 30580289; 30598092; 16977596; 33043633; 33729667 Phenotypes for gene: MPLKIP were set to Trichothiodystrophy 4, nonphotosensitive, OMIM:234050; microcephaly (disease), MONDO:0001149 Review for gene: MPLKIP was set to AMBER