Possible mitochondrial disorder - nuclear genes

Gene: PTCD3

Green List (high evidence)

The rating of this gene has been updated to green following NHS Genomic Medicine Service approval.

Created: 4 Dec 2024, 11:42 a.m. | Last Modified: 4 Dec 2024, 11:42 a.m.

Panel Version: 3.113

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Green List (high evidence)

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

Green List (high evidence)

Three additional individuals from two unrelated families reported with compound het PTCD3 variants. Functional studies done

Created: 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

• 36450274

I don't know

Updated information and Amber review collated by Carl Fratter May 2019 on behalf of GMS mitochondrial specialist test group: One case with functional studies

Created: 10 May 2019, 1:02 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
No OMIM phenotype

Publications

• 30607703

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.

Green List (high evidence)

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

• 30607703