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Likely inborn error of metabolism v5.3 PTCD3 Achchuthan Shanmugasundram Tag Q4_23_promote_green was removed from gene: PTCD3.
Likely inborn error of metabolism v5.3 PTCD3 Sarah Leigh edited their review of gene: PTCD3: Added comment: The rating of this gene has been updated to green and the mode of inheritance updated to BIALLELIC, autosomal or pseudoautosomal following NHS Genomic Medicine Service approval.; Changed mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Likely inborn error of metabolism v5.2 PTCD3 Achchuthan Shanmugasundram Source Expert Review Green was added to PTCD3.
Source NHS GMS was added to PTCD3.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Likely inborn error of metabolism v4.64 PTCD3 Sarah Leigh Tag Q4_23_promote_green tag was added to gene: PTCD3.
Likely inborn error of metabolism v4.64 PTCD3 Sarah Leigh edited their review of gene: PTCD3: Added comment: PTCD3 variants are associated with ?Combined oxidative phosphorylation deficiency 51 (OMIM:619057), but not associated with phenotype in Gen2Phen. At least six variants have been reported in three unrelated cases, with OMIM:619057 (PMID: 30607703; 36450274). Functional studies also support the involvement of PTCD3 variants in this condition (PMID: 30607703; 36450274).; Changed rating: GREEN
Likely inborn error of metabolism v4.64 PTCD3 Sarah Leigh Phenotypes for gene: PTCD3 were changed from ?Combined oxidative phosphorylation deficiency 51, OMIM:619057 to ?Combined oxidative phosphorylation deficiency 51, OMIM:619057; combined oxidative phosphorylation deficiency 51, MONDO:0033631
Likely inborn error of metabolism v4.63 PTCD3 Sarah Leigh Classified gene: PTCD3 as Amber List (moderate evidence)
Likely inborn error of metabolism v4.63 PTCD3 Sarah Leigh Added comment: Comment on list classification: There is enough evidence for this gene to be rated GREEN at the next major review.
Likely inborn error of metabolism v4.63 PTCD3 Sarah Leigh Gene: ptcd3 has been classified as Amber List (Moderate Evidence).
Likely inborn error of metabolism v4.62 PTCD3 Sarah Leigh Phenotypes for gene: PTCD3 were changed from low birth weight, mental retardation, and optic atrophy to ?Combined oxidative phosphorylation deficiency 51, OMIM:619057
Likely inborn error of metabolism v4.61 PTCD3 Sarah Leigh Publications for gene: PTCD3 were set to 30607703; 30706245
Likely inborn error of metabolism v1.406 PTCD3 Catherine Snow commented on gene: PTCD3
Likely inborn error of metabolism v1.406 PTCD3 Catherine Snow gene: PTCD3 was added
gene: PTCD3 was added to Inborn errors of metabolism. Sources: Expert Review Amber,Expert list
Mode of inheritance for gene: PTCD3 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: PTCD3 were set to 30607703; 30706245
Phenotypes for gene: PTCD3 were set to low birth weight, mental retardation, and optic atrophy