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  3. PTCD3
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Early onset or syndromic epilepsy

Gene: PTCD3

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

3 reviews

Eleanor Williams (Genomics England Curator)

Green List (high evidence)

The rating of this gene has been updated to green and the mode of inheritance set to 'BIALLELIC, autosomal or pseudoautosomal' following NHS Genomic Medicine Service approval.
Created: 2 May 2024, 1:13 p.m. | Last Modified: 6 May 2024, 9:23 p.m.
Panel Version: 5.6

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Created: 2 May 2024, 1:13 p.m.
Last Modified: 6 May 2024, 9:23 p.m.
Panel version: 5.6

Sarah Leigh (Genomics England Curator)

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, 4:11 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
Created: 7 Nov 2023, 4 p.m.
Last Modified: 7 Nov 2023, 4 p.m.
Copied from panel: Likely inborn error of metabolism - targeted testing not possible v4.64

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.
Copied from panel: Likely inborn error of metabolism - targeted testing not possible v4.64

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • NHS GMS
  • 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

2 May 2024, Gel status: 3

Removed Tag

Achchuthan Shanmugasundram (Genomics England Curator)

Tag Q4_23_promote_green was removed from gene: PTCD3.

2 May 2024, Gel status: 3

Added New Source, Added New Source, Status Update

Achchuthan Shanmugasundram (Genomics England Curator)

Source NHS GMS was added to PTCD3. Source Expert Review Green was added to PTCD3. Rating Changed from Amber List (moderate evidence) to Green List (high evidence)

7 Nov 2023, Gel status: 2

Created, Added New Source, Added Tag, Set mode of inheritance, Set publications, Set Phenotypes

Sarah Leigh (Genomics England Curator)

gene: PTCD3 was added gene: PTCD3 was added to Early onset or syndromic epilepsy. Sources: Expert list,Expert Review Amber Q4_23_promote_green tags were added to gene: PTCD3. Mode of inheritance for gene: PTCD3 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: PTCD3 were set to 30607703; 30706245; 36450274 Phenotypes for gene: PTCD3 were set to ?Combined oxidative phosphorylation deficiency 51, OMIM:619057; combined oxidative phosphorylation deficiency 51, MONDO:0033631