Possible mitochondrial disorder - nuclear genes
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, 4:07 p.m. | Last Modified: 7 Nov 2023, 4:07 p.m.
Panel Version: 3.58
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: 3.58
Three additional individuals from two unrelated families reported with compound het PTCD3 variants. Functional studies doneCreated: 23 Aug 2023, 9:52 a.m. | Last Modified: 23 Aug 2023, 9:52 a.m.
Panel Version: 3.48
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Combined oxidative phosphorylation deficiency 51
Publications
Updated information and Amber review collated by Carl Fratter May 2019 on behalf of GMS mitochondrial specialist test group: One case with functional studiesCreated: 10 May 2019, 1:02 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
No OMIM phenotype
Publications
Comment on list classification: This gene has been demoted to Amber until further evidence is provided. This gene is not currently on the Mitochondrial disorders panel (code 112, Version 1.151). PMID: 30607703 describes one case - further evidence needs to be submitted to support promoting this gene family member to Green.Created: 29 Mar 2019, 4:41 p.m.
Initial gene list and info collated by Carl Fratter (Oxford University Hospitals NHS Trust) January 2019 on behalf of the GMS Mitochondrial specialist test group.Created: 4 Feb 2019, 1:36 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
No OMIM phenotype
Publications
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
Tag Q4_23_promote_green tag was added to gene: PTCD3. Tag Q4_23_NHS_review tag was added to gene: PTCD3.
Gene: ptcd3 has been classified as Amber List (Moderate Evidence).
Phenotypes for gene: PTCD3 were changed from No OMIM phenotype to ?Combined oxidative phosphorylation deficiency 51, OMIM:619057
Publications for gene: PTCD3 were set to 30607703; 36450274
Publications for gene: PTCD3 were set to 30607703
Gene: ptcd3 has been classified as Amber List (Moderate Evidence).
gene: PTCD3 was added gene: PTCD3 was added to Possible mitochondrial disorder - nuclear genes. Sources: Expert Review Green,NHS GMS Mode of inheritance for gene: PTCD3 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: PTCD3 were set to 30607703 Phenotypes for gene: PTCD3 were set to No OMIM phenotype