Likely inborn error of metabolism
Gene: PTCD3

PTCD3 (pentatricopeptide repeat domain 3)
EnsemblGeneIds (GRCh38): ENSG00000132300
EnsemblGeneIds (GRCh37): ENSG00000132300
OMIM: 614918, Gene2Phenotype
PTCD3 is in 4 panels

2 reviews

Sarah Leigh (Genomics England Curator)

Green List (high evidence)

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.
Created: 4 May 2024, 3:17 p.m. | Last Modified: 4 May 2024, 3:17 p.m.

Panel Version: 5.3

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

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Created: 7 Nov 2023, 4 p.m.
Last Modified: 7 Nov 2023, 4 p.m.
Panel version: 5.3

Catherine Snow (Genomics England)

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

Created: 18 Nov 2019, 3:58 p.m.
Last Modified: 18 Nov 2019, 3:58 p.m.
Panel version: 1.406

Details

Mode of Inheritance

BIALLELIC, autosomal or pseudoautosomal

Sources

NHS GMS
Expert Review Green
Expert list

Phenotypes

?Combined oxidative phosphorylation deficiency 51, OMIM:619057
combined oxidative phosphorylation deficiency 51, MONDO:0033631

OMIM

614918

Clinvar variants

Variants in PTCD3

Penetrance

None

Publications

Panels with this gene

History Filter Activity

4 May 2024, Gel status: 3

Removed Tag

Achchuthan Shanmugasundram (Genomics England Curator)

Tag Q4_23_promote_green was removed from gene: PTCD3.

4 May 2024, Gel status: 3

Added New Source, Added New Source, Status Update

Achchuthan Shanmugasundram (Genomics England Curator)

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)

7 Nov 2023, Gel status: 2