Genes in panel

Likely inborn error of metabolism - targeted testing not possible

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

1 review

Shamima Rahman (UCL Institute of Child Health)

I don't know

single mutation report in literature, with little clinical information; no functional characterisation; confirmation needed
Created: 7 Feb 2016, 10:33 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal


Mode of Inheritance
  • Expert Review Red
  • Multiple respiratory chain complex deficiencies (disorders of protein synthesis)
Clinvar variants
Variants in PTCD1
Panels with this gene

History Filter Activity

8 Jan 2019, Gel status: 1

Panel promoted to version 1.0

Ellen McDonagh (Genomics England Curator)

Sarah Leigh: Associated with phenotype in O

16 Dec 2018, Gel status: 1

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

Ellen McDonagh (Genomics England Curator)

gene: PTCD1 was added gene: PTCD1 was added to Inborn errors of metabolism. Sources: Expert Review Red Mode of inheritance for gene: PTCD1 was set to Unknown Phenotypes for gene: PTCD1 were set to Multiple respiratory chain complex deficiencies (disorders of protein synthesis)