1. Panels
  2. Mitochondrial disease
  3. PTCD1
Genes in panel
Prev Next
STRs in panel
Prev Next
Regions in panel
Prev Next

Mitochondrial disease

Gene: PTCD1

Red List (low evidence)
PTCD1 (pentatricopeptide repeat domain 1)
EnsemblGeneIds (GRCh38): ENSG00000106246
EnsemblGeneIds (GRCh37): ENSG00000106246
OMIM: 614774, Gene2Phenotype
PTCD1 is in 2 panels

2 reviews

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Red List (low evidence)

Single case reported with no functional characterisation. Biochemical analyses of heart tissue identified global COX defect. No OMIM phenotype.
Sources: NHS GMS
Created: 23 Mar 2020, 12:45 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Cardiomyopathy

Publications

Created: 23 Mar 2020, 12:45 a.m.

Panel version: Imported from Mendeliome panel version 0.1814

Bryony Thompson (Royal Melbourne Hospital)

Red List (low evidence)

Single case reported with no functional characterisation. Biochemical analyses of heart tissue identified global COX defect. No OMIM phenotype.
Sources: NHS GMS
Created: 22 Mar 2020, 2:52 a.m. | Last Modified: 22 Mar 2020, 2:53 a.m.
Panel Version: 0.291

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Cardiomyopathy

Publications

Created: 22 Mar 2020, 2:52 a.m.
Last Modified: 22 Mar 2020, 2:53 a.m.
Panel version: 0.291

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Expert Review Red
  • NHS GMS
  • NHS GMS
Phenotypes
  • Cardiomyopathy
OMIM
614774
Clinvar variants
Variants in PTCD1
Penetrance
None
Publications
Panels with this gene

History Filter Activity

19 Apr 2020, Gel status: 1

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: ptcd1 has been classified as Red List (Low Evidence).

22 Mar 2020, Gel status: 1

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

Bryony Thompson (Royal Melbourne Hospital)

gene: PTCD1 was added gene: PTCD1 was added to Mitochondrial disease. Sources: NHS GMS Mode of inheritance for gene: PTCD1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: PTCD1 were set to 25058219 Phenotypes for gene: PTCD1 were set to Cardiomyopathy Review for gene: PTCD1 was set to RED