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White matter disorders and cerebral calcification - narrow panel

Gene: MPLKIP

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

3 reviews

Sarah Leigh (Genomics England Curator)

Red List (low evidence)

The rating of this gene has been updated to Red following NHS Genomic Medicine Service approval.
Created: 30 Jan 2023, 4:26 p.m. | Last Modified: 30 Jan 2023, 4:26 p.m.
Panel Version: 2.9
Created: 30 Jan 2023, 4:26 p.m.
Last Modified: 30 Jan 2023, 4:26 p.m.
Panel version: 2.9

Ivone Leong (Genomics England Curator)

Red List (low evidence)

This gene is associated with a phenotype in OMIM and Gene2Phenotype. There is no reported cases of this gene associated with white matter changes, therefore, it is recommended that this gene be demoted to Red.
Created: 8 Jun 2021, 2 p.m. | Last Modified: 8 Jun 2021, 2 p.m.
Panel Version: 1.161
Created: 8 Jun 2021, 1:58 p.m.
Last Modified: 8 Jun 2021, 1:58 p.m.
Panel version: 1.161

Zornitza Stark (Australian Genomics)

Red List (low evidence)

White matter changes have been reported in association with trichothiodystrophy, but not specifically in association with variants in this gene.
Created: 15 Sep 2020, 10:24 p.m. | Last Modified: 15 Sep 2020, 10:24 p.m.
Panel Version: 1.14

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Trichothiodystrophy 4, nonphotosensitive 234050

Created: 15 Sep 2020, 10:24 p.m.
Last Modified: 15 Sep 2020, 10:24 p.m.
Panel version: 1.14

History Filter Activity

30 Jan 2023, Gel status: 1

Removed Tag, Removed Tag

Sarah Leigh (Genomics England Curator)

Tag Q2_21_rating was removed from gene: MPLKIP. Tag Q2_21_expert_review was removed from gene: MPLKIP.

30 Jan 2023, Gel status: 1

Added New Source, Added New Source, Status Update

Sarah Leigh (Genomics England Curator)

Source NHS GMS was added to MPLKIP. Source Expert Review Red was added to MPLKIP. Rating Changed from Green List (high evidence) to Red List (low evidence)

8 Jun 2021, Gel status: 3

Set Phenotypes

Ivone Leong (Genomics England Curator)

Phenotypes for gene: MPLKIP were changed from Non-photosensitive trichothiodystrophy 4; Trichothiodystrophy, nonphotosensitive to Trichothiodystrophy 4, nonphotosensitive, OMIM:234050

8 Jun 2021, Gel status: 3

Added Tag, Added Tag

Ivone Leong (Genomics England Curator)

Tag Q2_21_rating tag was added to gene: MPLKIP. Tag Q2_21_expert_review tag was added to gene: MPLKIP.

8 Jun 2021, Gel status: 3

Set publications

Ivone Leong (Genomics England Curator)

Publications for gene: MPLKIP were set to 25655951; 25290684; 26518168; 25606444; 26880286; 2942160; 30580289; 30598092; 16977596; 33043633; 33729667

8 Jun 2021, Gel status: 3

Set publications

Ivone Leong (Genomics England Curator)

Publications for gene: MPLKIP were set to 25655951

8 Jan 2019, Gel status: 4

Panel promoted to version 1.0

Louise Daugherty (Genomics England Curator)

Checked against super panel made up of the panel constituents. Ready to promote to version 1

19 Dec 2018, Gel status: 4

Set Phenotypes, Set publications

Ellen McDonagh (Genomics England Curator)

Added phenotypes Trichothiodystrophy, nonphotosensitive for gene: MPLKIP Publications for gene MPLKIP were changed from to 25655951

19 Dec 2018, Gel status: 4

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

Ellen McDonagh (Genomics England Curator)

gene: MPLKIP was added gene: MPLKIP was added to White matter disorders and cerebral calcification - narrow panel. Sources: Expert Review Green Mode of inheritance for gene: MPLKIP was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: MPLKIP were set to Non-photosensitive trichothiodystrophy 4