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| White matter disorders and cerebral calcification - narrow panel v2.9 | MPLKIP |
Sarah Leigh Tag Q2_21_rating was removed from gene: MPLKIP. Tag Q2_21_expert_review was removed from gene: MPLKIP. |
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| White matter disorders and cerebral calcification - narrow panel v2.9 | MPLKIP | Sarah Leigh reviewed gene: MPLKIP: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| White matter disorders and cerebral calcification - narrow panel v2.8 | MPLKIP |
Sarah Leigh 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) |
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| White matter disorders and cerebral calcification - narrow panel v1.162 | MPLKIP | Ivone Leong Phenotypes for gene: MPLKIP were changed from Non-photosensitive trichothiodystrophy 4; Trichothiodystrophy, nonphotosensitive to Trichothiodystrophy 4, nonphotosensitive, OMIM:234050 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| White matter disorders and cerebral calcification - narrow panel v1.161 | MPLKIP | Ivone Leong commented on gene: MPLKIP: 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. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| White matter disorders and cerebral calcification - narrow panel v1.161 | MPLKIP | Ivone Leong Deleted their comment | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| White matter disorders and cerebral calcification - narrow panel v1.161 | MPLKIP | Ivone Leong reviewed gene: MPLKIP: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| White matter disorders and cerebral calcification - narrow panel v1.161 | MPLKIP |
Ivone Leong Tag Q2_21_rating tag was added to gene: MPLKIP. Tag Q2_21_expert_review tag was added to gene: MPLKIP. |
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| White matter disorders and cerebral calcification - narrow panel v1.161 | MPLKIP | Ivone Leong Publications for gene: MPLKIP were set to 25655951; 25290684; 26518168; 25606444; 26880286; 2942160; 30580289; 30598092; 16977596; 33043633; 33729667 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| White matter disorders and cerebral calcification - narrow panel v1.160 | MPLKIP | Ivone Leong Publications for gene: MPLKIP were set to 25655951 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| White matter disorders and cerebral calcification - narrow panel v1.14 | MPLKIP | Zornitza Stark reviewed gene: MPLKIP: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Trichothiodystrophy 4, nonphotosensitive 234050; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| White matter disorders and cerebral calcification - narrow panel v0.11 | MPLKIP |
Ellen McDonagh Added phenotypes Trichothiodystrophy, nonphotosensitive for gene: MPLKIP Publications for gene MPLKIP were changed from to 25655951 |
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| White matter disorders and cerebral calcification - narrow panel v0.11 | MPLKIP |
Ellen McDonagh 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 |
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