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Inborn errors of metabolism

Gene: PTCD3

Amber List (moderate evidence)

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

1 review

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

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Amber
Phenotypes
  • low birth weight, mental retardation, and optic atrophy
OMIM
614918
Clinvar variants
Variants in PTCD3
Penetrance
None
Publications
Panels with this gene

History Filter Activity

18 Nov 2019, Gel status: 2

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

Catherine Snow (Genomics England)

gene: PTCD3 was added gene: PTCD3 was added to Inborn errors of metabolism. Sources: Expert Review Amber,Expert list Mode of inheritance for gene: PTCD3 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: PTCD3 were set to 30607703; 30706245 Phenotypes for gene: PTCD3 were set to low birth weight, mental retardation, and optic atrophy