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  3. PTCD3
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Mitochondrial disease

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

2 reviews

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

Three additional families reported.
Created: 1 Sep 2023, 9:36 a.m. | Last Modified: 1 Sep 2023, 9:36 a.m.
Panel Version: 0.887

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Combined oxidative phosphorylation deficiency-51, MIM#619057

Publications

Created: 22 Oct 2020, 9:30 p.m.
Last Modified: 22 Oct 2020, 9:30 p.m.
Panel version: 0.887

Bryony Thompson (Royal Melbourne Hospital)

I don't know

One compound heterozygote case and functional assays. Essential subunit of oxidative phosphorylation (OXPHOS) complexes.
Sources: NHS GMS
Created: 22 Mar 2020, 1:39 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Mental retardation; optic atrophy; Leigh-like syndrome

Publications

Created: 22 Mar 2020, 1:39 a.m.

Panel version: 0.289

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • NHS GMS
Phenotypes
  • Combined oxidative phosphorylation deficiency-51, MIM#619057
  • Mental retardation
  • optic atrophy
  • Leigh-like syndrome
OMIM
614918
Clinvar variants
Variants in PTCD3
Penetrance
None
Publications
Panels with this gene

History Filter Activity

1 Sep 2023, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: PTCD3 were set to 30607703; 19427859

1 Sep 2023, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: ptcd3 has been classified as Green List (High Evidence).

22 Oct 2020, Gel status: 2

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: PTCD3 were changed from Mental retardation; optic atrophy; Leigh-like syndrome to Combined oxidative phosphorylation deficiency-51, MIM#619057; Mental retardation; optic atrophy; Leigh-like syndrome

19 Apr 2020, Gel status: 2

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: ptcd3 has been classified as Amber List (Moderate Evidence).

22 Mar 2020, Gel status: 2

Entity classified by Genomics England curator

Bryony Thompson (Royal Melbourne Hospital)

Gene: ptcd3 has been classified as Amber List (Moderate 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: PTCD3 was added gene: PTCD3 was added to Mitochondrial disease. Sources: NHS GMS Mode of inheritance for gene: PTCD3 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: PTCD3 were set to 30607703; 19427859 Phenotypes for gene: PTCD3 were set to Mental retardation; optic atrophy; Leigh-like syndrome Review for gene: PTCD3 was set to AMBER