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Mitochondrial disorders v6.4 PANK2 Achchuthan Shanmugasundram Tag Q3_23_promote_green was removed from gene: PANK2.
Mitochondrial disorders v6.4 PANK2 Sarah Leigh edited their review of gene: PANK2: Changed rating: GREEN
Mitochondrial disorders v6.3 PANK2 Sarah Leigh reviewed gene: PANK2: Rating: ; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mitochondrial disorders v6.2 PANK2 Achchuthan Shanmugasundram Source NHS GMS was added to PANK2.
Source Expert Review Green was added to PANK2.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Mitochondrial disorders v4.78 PANK2 Achchuthan Shanmugasundram Publications for gene: PANK2 were set to 11479594; 12510040; 25778941; 28863176
Mitochondrial disorders v4.78 PANK2 Achchuthan Shanmugasundram Publications for gene: PANK2 were set to 25778941; 11479594; 12510040; 28863176; 25778941
Mitochondrial disorders v4.77 PANK2 Achchuthan Shanmugasundram Tag Q3_23_promote_green tag was added to gene: PANK2.
Mitochondrial disorders v4.77 PANK2 Achchuthan Shanmugasundram Deleted their comment
Mitochondrial disorders v4.77 PANK2 Achchuthan Shanmugasundram Classified gene: PANK2 as Amber List (moderate evidence)
Mitochondrial disorders v4.77 PANK2 Achchuthan Shanmugasundram Added comment: Comment on list classification: As reviewed by Zornitza Stark, PANK2 is a mitochondrial enzyme and there is sufficient evidence for promoting this gene to green rating at the next major update.
Mitochondrial disorders v4.77 PANK2 Achchuthan Shanmugasundram Gene: pank2 has been classified as Amber List (Moderate Evidence).
Mitochondrial disorders v4.77 PANK2 Achchuthan Shanmugasundram Classified gene: PANK2 as Amber List (moderate evidence)
Mitochondrial disorders v4.77 PANK2 Achchuthan Shanmugasundram Added comment: Comment on list classification: As reviewed by Zornitza Stark, PANK2 is a mitochondrial enzyme and there is sufficient evidence for promoting this gene to green rating at the next major update.
Mitochondrial disorders v4.77 PANK2 Achchuthan Shanmugasundram Gene: pank2 has been classified as Amber List (Moderate Evidence).
Mitochondrial disorders v4.76 PANK2 Achchuthan Shanmugasundram commented on gene: PANK2: This gene has been associated with relevant phenotypes in both OMIM (MIMs #607236 & #234200) and in Gene2Phenotype (HARP syndrome with 'definitive' rating in the eye panel).
Mitochondrial disorders v4.76 PANK2 Achchuthan Shanmugasundram Phenotypes for gene: PANK2 were changed from Neurodegeneration with brain iron accumulation 1, 234200HARP syndrome, 607236 to HARP syndrome, OMIM:607236; Neurodegeneration with brain iron accumulation 1, OMIM:234200
Mitochondrial disorders v4.75 PANK2 Achchuthan Shanmugasundram Publications for gene: PANK2 were set to 25778941; 11479594; 12510040; 28863176; 25778941
Mitochondrial disorders v4.75 PANK2 Achchuthan Shanmugasundram Publications for gene: PANK2 were set to
Mitochondrial disorders v4.74 PANK2 Achchuthan Shanmugasundram Mode of inheritance for gene: PANK2 was changed from BIALLELIC, autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal
Mitochondrial disorders v4.74 PANK2 Achchuthan Shanmugasundram Mode of inheritance for gene: PANK2 was changed from to BIALLELIC, autosomal or pseudoautosomal
Mitochondrial disorders v4.73 PANK2 Achchuthan Shanmugasundram reviewed gene: PANK2: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: HARP syndrome, OMIM:607236, Neurodegeneration with brain iron accumulation 1, OMIM:234200; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mitochondrial disorders v2.5 PANK2 Zornitza Stark reviewed gene: PANK2: Rating: GREEN; Mode of pathogenicity: None; Publications: 25778941, 11479594, 12510040, 28863176, 25778941; Phenotypes: HARP syndrome MIM#607236, Neurodegeneration with brain iron accumulation 1 MIM#234200; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes