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Structural eye disease v3.8 | MIR204 |
Sarah Leigh Tag locus-type-rna-micro tag was added to gene: MIR204. Tag Q3_23_NHS_review tag was added to gene: MIR204. |
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Structural eye disease v3.8 | MIR204 | Sarah Leigh Added comment: Comment on mode of pathogenicity: The authors of PMID: 26056285 propose MIR204 n.37C>T is likely to have a gain-of-function mechanism. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Structural eye disease v3.8 | MIR204 | Sarah Leigh Mode of pathogenicity for gene: MIR204 was changed from to Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Structural eye disease v3.7 | MIR204 | Sarah Leigh Classified gene: MIR204 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Structural eye disease v3.7 | MIR204 | Sarah Leigh Added comment: Comment on list classification: There is enough evidence for this gene to be rated GREEN at the next major review. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Structural eye disease v3.7 | MIR204 | Sarah Leigh Gene: mir204 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Structural eye disease v3.6 | MIR204 | Sarah Leigh Tag Q3_23_promote_green tag was added to gene: MIR204. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Structural eye disease v3.6 | MIR204 | Sarah Leigh Publications for gene: MIR204 were set to 26056285 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Structural eye disease v3.5 | MIR204 | Sarah Leigh reviewed gene: MIR204: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Structural eye disease v3.5 | MIR204 | Sarah Leigh Phenotypes for gene: MIR204 were changed from Retinal dystrophy and iris coloboma with or without cataract 616722 to ?Retinal dystrophy and iris coloboma with or without cataract, OMIM:616722; familial progressive retinal dystrophy-iris coloboma-congenital cataract syndrome; MONDO:0014747 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Structural eye disease v3.4 | MIR204 | Hannah Knight reviewed gene: MIR204: Rating: GREEN; Mode of pathogenicity: None; Publications: 37321975; Phenotypes: Retinal dystrophy and iris coloboma with or without cataract 616722; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Structural eye disease v0.76 | MIR204 | Nicola Ragge reviewed gene: MIR204: Rating: AMBER; Mode of pathogenicity: ; Publications: 26056285; Phenotypes: RETINAL DYSTROPHY AND IRIS COLOBOMA WITH OR WITHOUT CONGENITAL CATARACT, 616722; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Structural eye disease v0.75 | MIR204 | Ivone Leong commented on gene: MIR204: Promoted from red to amber based on the expert review provided. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Structural eye disease v0.74 | MIR204 |
Ivone Leong Source Expert Review Amber was added to MIR204. Rating Changed from Red List (low evidence) to Amber List (moderate evidence) |
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Structural eye disease v0.48 | MIR204 | Ivone Leong edited their review of gene: MIR204: Changed phenotypes: RETINAL DYSTROPHY AND IRIS COLOBOMA WITH OR WITHOUT CONGENITAL CATARACT, 616722 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Structural eye disease v0.38 | MIR204 | Ivone Leong reviewed gene: MIR204: Rating: AMBER; Mode of pathogenicity: ; Publications: 26056285; Phenotypes: Bardet-Biedl syndrome 6, McKusick-Kaufman syndrome, 605231, 236700; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Structural eye disease v0.31 | MIR204 | Ivone Leong Phenotypes for gene: MIR204 were changed from Retinal dystrophy and iris coloboma with or without cataract 616722; RETINAL DYSTROPHY AND IRIS COLOBOMA WITH OR WITHOUT CONGENITAL CATARACT, 616722 to Retinal dystrophy and iris coloboma with or without cataract 616722 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Structural eye disease v0.15 | MIR204 |
Ivone Leong Source NHS GMS was added to MIR204. Added phenotypes RETINAL DYSTROPHY AND IRIS COLOBOMA WITH OR WITHOUT CONGENITAL CATARACT, 616722 for gene: MIR204 |
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Structural eye disease v0.2 | MIR204 |
Ellen McDonagh gene: MIR204 was added gene: MIR204 was added to Structural eye disease. Sources: Expert Review Red Mode of inheritance for gene: MIR204 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: MIR204 were set to 26056285 Phenotypes for gene: MIR204 were set to Retinal dystrophy and iris coloboma with or without cataract 616722 |