Likely inborn error of metabolism - targeted testing not possible
Gene: PTCD3
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).Created: 7 Nov 2023, 4:11 p.m. | Last Modified: 7 Nov 2023, 4:11 p.m.
Panel Version: 4.64
Comment on list classification: There is enough evidence for this gene to be rated GREEN at the next major review.Created: 7 Nov 2023, 4 p.m. | Last Modified: 7 Nov 2023, 4 p.m.
Panel Version: 4.63
One Japanese patient PMID: 30607703, although some discussion in PMID: 30706245 if phenotype has been correctly reported.Created: 18 Nov 2019, 3:58 p.m. | Last Modified: 18 Nov 2019, 3:58 p.m.
Panel Version: 1.406
Tag Q4_23_promote_green tag was added to gene: PTCD3.
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
Gene: ptcd3 has been classified as Amber List (Moderate Evidence).
Phenotypes for gene: PTCD3 were changed from low birth weight, mental retardation, and optic atrophy to ?Combined oxidative phosphorylation deficiency 51, OMIM:619057
Publications for gene: PTCD3 were set to 30607703; 30706245
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