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| Retinal disorders v5.4 | MPDZ |
Arina Puzriakova Tag Q3_23_promote_green was removed from gene: MPDZ. Tag Q3_23_NHS_review was removed from gene: MPDZ. |
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| Retinal disorders v5.3 | MPDZ |
Arina Puzriakova Source NHS GMS was added to MPDZ. Source Expert Review Green was added to MPDZ. Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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| Retinal disorders v5.2 | MPDZ | Arina Puzriakova reviewed gene: MPDZ: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Retinal disorders v4.23 | MPDZ |
Achchuthan Shanmugasundram Tag Q3_23_promote_green tag was added to gene: MPDZ. Tag Q3_23_NHS_review tag was added to gene: MPDZ. |
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| Retinal disorders v4.23 | MPDZ | Achchuthan Shanmugasundram Classified gene: MPDZ as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Retinal disorders v4.23 | MPDZ | Achchuthan Shanmugasundram Added comment: Comment on list classification: There are five unrelated cases and supporting functional evidence available for the association of this gene with this panel and hence this gene can be promoted to green rating at the next GMS review. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Retinal disorders v4.23 | MPDZ | Achchuthan Shanmugasundram Gene: mpdz has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Retinal disorders v4.22 | MPDZ | Achchuthan Shanmugasundram Phenotypes for gene: MPDZ were changed from to Hydrocephalus, congenital, 2, with or without brain or eye anomalies, OMIM:615219 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Retinal disorders v4.21 | MPDZ | Achchuthan Shanmugasundram Publications for gene: MPDZ were set to PMID 28556411, 36594712, 36429029 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Retinal disorders v4.20 | MPDZ | Achchuthan Shanmugasundram reviewed gene: MPDZ: Rating: GREEN; Mode of pathogenicity: None; Publications: 28556411, 36429029, 36594712; Phenotypes: Hydrocephalus, congenital, 2, with or without brain or eye anomalies, OMIM:615219; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Retinal disorders v4.20 | MPDZ |
Siying Lin changed review comment from: PMID 28556411: 3 families with affected individuals with biallelic MPDZ variants and congenital hydrocephalus with retinohoroidal coloboma, macular hypoplasia and foveal hypoplasia PMID 36594712: 2 siblings with biallelic MPDZ variants and macular colobomas PMID 36429029: proband with biallelic MPDZ variants and macular coloboma Sources: Literature; to: PMID 28556411: 3 families with affected individuals with biallelic MPDZ variants and congenital hydrocephalus with retinohoroidal coloboma, macular hypoplasia and foveal hypoplasia PMID 36594712: 2 siblings with biallelic MPDZ variants and macular colobomas PMID 36429029: proband with biallelic MPDZ variants and macular coloboma Sources: Literature |
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| Retinal disorders v4.20 | MPDZ |
Siying Lin gene: MPDZ was added gene: MPDZ was added to Retinal disorders. Sources: Literature Mode of inheritance for gene: MPDZ was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: MPDZ were set to PMID 28556411, 36594712, 36429029 Mode of pathogenicity for gene: MPDZ was set to Other Added comment: PMID 28556411: 3 families with affected individuals with biallelic MPDZ variants and congenital hydrocephalus with retinohoroidal coloboma, macular hypoplasia and foveal hypoplasia PMID 36594712: 2 siblings with biallelic MPDZ variants and macular colobomas PMID 36429029: proband with biallelic MPDZ variants and macular coloboma Sources: Literature |
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