Genomics England
GMS Panels
Panels
Genes and Entities

CLPB

ClpB homolog, mitochondrial AAA ATPase chaperonin
OMIM: 616254
PanelMode of inheritanceDetails
8 panels
Green
in Childhood onset dystonia or chorea or related movement disorder
R-numbers: R57
Signed-off version 2.6
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes
3-methylglutaconic aciduria, type VII, with cataracts, neurologic involvement and neutropenia, OMIM:616271
Green
in DDG2P
Component of the following Super Panels:
  • - Paediatric disorders
Signed-off version 3.1
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
3-METHYLGLUTACONIC ACIDURIA, TYPE VII, WITH CATARACTS, NEUROLOGIC INVOLVEMENT AND NEUTROPENIA 616271
Green
in Fetal anomalies
R-numbers: R21, R412
Signed-off version 2.4
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
3-methylglutaconic aciduria, type VII, with cataracts, neurologic involvement and neutropenia, OMIM:616271
Green
in Inborn errors of metabolism
Component of the following Super Panels:
  • - Hypotonic infant
  • - Paediatric disorders
  • - White matter disorders - childhood onset
R-numbers: R98
Signed-off version 3.2
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes
3-methylglutaconic aciduria, type VII, with cataracts, neurologic involvement and neutropenia, OMIM:616271
Green
in Intellectual disability
Component of the following Super Panels:
  • - Hypotonic infant
  • - Paediatric disorders
  • - White matter disorders - childhood onset
R-numbers: R29
Signed-off version 4.4
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes
3-methylglutaconic aciduria, type VII, with cataracts, neurologic involvement and neutropenia, OMIM:616271
Green
in Mitochondrial disorders
Component of the following Super Panels:
  • - White matter disorders - childhood onset
Signed-off version 3.1
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
3-methylglutaconic aciduria, type VII, with cataracts, neurologic involvement and neutropenia, OMIM:616271
Green
in Possible mitochondrial disorder - nuclear genes
R-numbers: R63
Signed-off version 2.2
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
3-methylglutaconic aciduria, type VII, with cataracts, neurologic involvement and neutropenia, OMIM:616271
Green
in Primary immunodeficiency or monogenic inflammatory bowel disease
R-numbers: R15
Signed-off version 3.3
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes
3-methylglutaconic aciduria, type VII, with cataracts, neurologic involvement and neutropenia, OMIM:616271