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Adult onset neurodegenerative disorder v3.49 C19orf12 Arina Puzriakova Tag Q2_22_MOI was removed from gene: C19orf12.
Adult onset neurodegenerative disorder v3.49 C19orf12 Arina Puzriakova commented on gene: C19orf12
Adult onset neurodegenerative disorder v3.48 C19orf12 Arina Puzriakova Mode of inheritance for gene C19orf12 was changed from BIALLELIC, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Adult onset neurodegenerative disorder v2.272 C19orf12 Sarah Leigh Tag Q2_22_MOI tag was added to gene: C19orf12.
Adult onset neurodegenerative disorder v2.272 C19orf12 Sarah Leigh reviewed gene: C19orf12: Rating: ; Mode of pathogenicity: None; Publications: 29295770, 31087512; Phenotypes: ; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Adult onset neurodegenerative disorder v2.272 C19orf12 Sarah Leigh Phenotypes for gene: C19orf12 were changed from Neurodegeneration with brain iron accumulation 4, OMIM: 614298 to ?Spastic paraplegia 43, autosomal recessive, OMIM:615043; Neurodegeneration with brain iron accumulation 4, OMIM: 614298
Adult onset neurodegenerative disorder v2.271 C19orf12 Sarah Leigh Phenotypes for gene: C19orf12 were changed from Dystonia; neurodegeneration with brain iron accumulation-4, OMIM:614298 to Neurodegeneration with brain iron accumulation 4, OMIM: 614298
Adult onset neurodegenerative disorder v2.270 C19orf12 Sarah Leigh Publications for gene: C19orf12 were set to 23278385; Landoure (2013)
Adult onset neurodegenerative disorder v2.53 C19orf12 Ivone Leong Phenotypes for gene: C19orf12 were changed from mitochondrial membrane protein-associated neurodegeneration; Dystonia; neurodegeneration with brain iron accumulation-4; Neurodegeneration with brain iron accumulation 4 to Dystonia; neurodegeneration with brain iron accumulation-4, OMIM:614298
Adult onset neurodegenerative disorder v2.16 C19orf12 Zornitza Stark reviewed gene: C19orf12: Rating: GREEN; Mode of pathogenicity: None; Publications: 23278385, 21981780, 23269600; Phenotypes: Neurodegeneration with brain iron accumulation 4, MIM# 614298; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Adult onset neurodegenerative disorder v1.106 C19orf12 Louise Daugherty edited their review of gene: C19orf12: Added comment: As discussed with the GMS Neurology Specialist Test Group webex call11th September 2019 : The Specialist Test Group all agreed that there is enough evidence to rate this gene Green; Changed rating: GREEN
Adult onset neurodegenerative disorder v1.101 C19orf12 Louise Daugherty commented on gene: C19orf12: Review and rating from Tracy Lester (Oxford Medical Genetics Laboratories Oxford University Hospitals NHS Foundation Trust) on behalf of Wessex and West Midlands GLH for GMS Neurology specialist test group. All the green and amber, except for the genes with triplet repeats, were reviewed.
Adult onset neurodegenerative disorder v1.100 C19orf12 Louise Daugherty Source Wessex and West Midlands GLH was added to C19orf12.
Adult onset neurodegenerative disorder v1.99 C19orf12 Tracy Lester reviewed gene: C19orf12: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: mitochondrial membrane protein-associated neurodegeneration, Dystonia, neurodegeneration with brain iron accumulation-4, Neurodegeneration with brain iron accumulation 4; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Adult onset neurodegenerative disorder v1.81 C19orf12 Louise Daugherty Publications for gene C19orf12 were changed from Landoure (2013) to 23278385; Landoure (2013)
Adult onset neurodegenerative disorder v1.74 C19orf12 Louise Daugherty commented on gene: C19orf12: Review and rating submitted by Nick Beauchamp (Sheffield Diagnostic genetics Service), on behalf of Yorkshire and North East GLH for GMS Neurology specialist test group.
Adult onset neurodegenerative disorder v1.72 C19orf12 Nick Beauchamp reviewed gene: C19orf12: Rating: GREEN; Mode of pathogenicity: ; Publications: 23278385; Phenotypes: mitochondrial membrane protein-associated neurodegeneration, Dystonia, neurodegeneration with brain iron accumulation-4, Neurodegeneration with brain iron accumulation 4; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Adult onset neurodegenerative disorder v1.67 C19orf12 Louise Daugherty Source Yorkshire and North East GLH was added to C19orf12.
Adult onset neurodegenerative disorder v1.11 C19orf12 Louise Daugherty reviewed gene: C19orf12: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset neurodegenerative disorder v1.10 C19orf12 James Polke reviewed gene: C19orf12: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset neurodegenerative disorder v1.9 C19orf12 Louise Daugherty Source NHS GMS was added to C19orf12.
Adult onset neurodegenerative disorder v1.8 C19orf12 Louise Daugherty Source London North GLH was added to C19orf12.
Adult onset neurodegenerative disorder v0.2 C19orf12 Rebecca Foulger Added phenotypes mitochondrial membrane protein-associated neurodegeneration; Dystonia; neurodegeneration with brain iron accumulation-4 for gene: C19orf12
Adult onset neurodegenerative disorder v0.2 C19orf12 Rebecca Foulger gene: C19orf12 was added
gene: C19orf12 was added to Neurodegenerative disorders - adult onset. Sources: Expert Review Green
Mode of inheritance for gene: C19orf12 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: C19orf12 were set to Landoure (2013)
Phenotypes for gene: C19orf12 were set to mitochondrial membrane protein-associated neurodegeneration; Dystonia; Neurodegeneration with brain iron accumulation 4