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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 13 panels

1 review

Rebecca Foulger (Genomics England curator)

I don't know

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

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