Genes in panel
STRs in panel
Prev Next
Regions in panel
Prev Next

DDG2P

Gene: CLPB

Green List (high evidence)

CLPB (ClpB homolog, mitochondrial AAA ATPase chaperonin)
EnsemblGeneIds (GRCh38): ENSG00000162129
EnsemblGeneIds (GRCh37): ENSG00000162129
OMIM: 616254, Gene2Phenotype
CLPB is in 11 panels

1 review

Rebecca Foulger (Genomics England curator)

I don't know

Original DDG2P rating: confirmed.
Created: 19 Nov 2018, 11:29 a.m.

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • 3-METHYLGLUTACONIC ACIDURIA, TYPE VII, WITH CATARACTS, NEUROLOGIC INVOLVEMENT AND NEUTROPENIA 616271
OMIM
616254
Clinvar variants
Variants in CLPB
Penetrance
None
Publications
Panels with this gene

History Filter Activity

29 Jan 2019, Gel status: 4

Panel promoted to version 1.0

Rebecca Foulger (Genomics England curator)

Rebecca Foulger: Original DDG2P rating: confirm

19 Nov 2018, Gel status: 4

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

Rebecca Foulger (Genomics England curator)

gene: CLPB was added gene: CLPB was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: CLPB was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: CLPB were set to 25597510 Phenotypes for gene: CLPB were set to 3-METHYLGLUTACONIC ACIDURIA, TYPE VII, WITH CATARACTS, NEUROLOGIC INVOLVEMENT AND NEUTROPENIA 616271