White matter disorders and cerebral calcification - narrow panel
Gene: MPLKIP
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
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
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
Tag Q2_21_rating was removed from gene: MPLKIP. Tag Q2_21_expert_review was removed from gene: MPLKIP.
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)
Phenotypes for gene: MPLKIP were changed from Non-photosensitive trichothiodystrophy 4; Trichothiodystrophy, nonphotosensitive to Trichothiodystrophy 4, nonphotosensitive, OMIM:234050
Tag Q2_21_rating tag was added to gene: MPLKIP. Tag Q2_21_expert_review tag was added to gene: MPLKIP.
Publications for gene: MPLKIP were set to 25655951; 25290684; 26518168; 25606444; 26880286; 2942160; 30580289; 30598092; 16977596; 33043633; 33729667
Publications for gene: MPLKIP were set to 25655951
Checked against super panel made up of the panel constituents. Ready to promote to version 1
Added phenotypes Trichothiodystrophy, nonphotosensitive for gene: MPLKIP Publications for gene MPLKIP were changed from to 25655951
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