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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.
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)
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
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