1. Panels
  2. Fetal anomalies
  3. PCCB
Genes in panel
Prev Next

Fetal anomalies

Gene: PCCB

Red List (low evidence)
PCCB (propionyl-CoA carboxylase beta subunit)
EnsemblGeneIds (GRCh38): ENSG00000114054
EnsemblGeneIds (GRCh37): ENSG00000114054
OMIM: 232050, Gene2Phenotype
PCCB is in 12 panels

1 review

Rebecca Foulger (Genomics England curator)

Red List (low evidence)

This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Phenotype is not fetally-relevant. Additional notes from clinical review: Probably all features are secondary to the metabolite accumulation postnatally. Action taken: Demoted PCCB gene rating from Green to Red.
Created: 4 Apr 2019, 10:28 a.m.
DDG2P rating in original PAGE list: Confirmed for PROPIONIC ACIDEMIA
Created: 11 Dec 2018, 9:05 a.m.
Created: 11 Dec 2018, 9:05 a.m.

Panel version: 0.153

History Filter Activity

4 Apr 2019, Gel status: 1

Added New Source, Status Update

Rebecca Foulger (Genomics England curator)

Source Expert Review Red was added to PCCB. Rating Changed from Green List (high evidence) to Red List (low evidence)

8 Nov 2018, Gel status: 4

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

Rebecca Foulger (Genomics England curator)

gene: PCCB was added gene: PCCB was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype Mode of inheritance for gene: PCCB was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: PCCB were set to PROPIONIC ACIDEMIA