CLPB

ClpB homolog, mitochondrial AAA ATPase chaperonin
OMIM: 616254
PanelMode of inheritanceDetails
8 panels
R-numbers: R57
Signed-off version 1.137
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
3-methylglutaconic aciduria, type VII, with cataracts, neurologic involvement and neutropenia, 616271
Green
in DDG2P
Component of the following Super Panels:
  • - Paediatric disorders
Signed-off version 2.2
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
3-METHYLGLUTACONIC ACIDURIA, TYPE VII, WITH CATARACTS, NEUROLOGIC INVOLVEMENT AND NEUTROPENIA 616271
R-numbers: R21
Signed-off version 1.92
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
3-METHYLGLUTACONIC ACIDURIA, TYPE VII, WITH CATARACTS, NEUROLOGIC INVOLVEMENT AND NEUTROPENIA
Component of the following Super Panels:
  • - Hypotonic infant
  • - Paediatric disorders
  • - White matter disorders - childhood onset
R-numbers: R98
Signed-off version 2.3
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
3-methylglutaconic aciduria with the following: cataract, renal cysts and nephrocalcinosis, cataract, neutropenia, epilepsy, congenital microcephaly and severe encephalopathy, progressive brain atrophy, intellectual disability, congenital neutropenia, cataracts, movement disorder
Component of the following Super Panels:
  • - Hypotonic infant
  • - Paediatric disorders
  • - White matter disorders - childhood onset
R-numbers: R29
Signed-off version 3.2
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
3-METHYLGLUTACONIC ACIDURIA, TYPE VII, WITH CATARACTS, NEUROLOGIC INVOLVEMENT AND NEUTROPENIA
Component of the following Super Panels:
  • - White matter disorders - childhood onset
Signed-off version 2.4
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
3-methylglutaconic aciduria with the following: cataract, renal cysts and nephrocalcinosis, progressive brain atrophy, intellectual disability, congenital neutropenia, cataracts, movement disorder, cataract, neutropenia, epilepsy, congenital microcephaly and severe encephalopathy
R-numbers: R63
Signed-off version 1.17
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
3-methylglutaconic aciduria, type VII, with cataracts, neurologic involvement and neutropenia, 616271
R-numbers: R15
Signed-off version 2.1
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
3-methylglutaconic aciduria, type VII, 3-methylglutaconic aciduria, type VII, with cataracts, neurologic involvement and neutropenia, 616271, 3-methylglutaconic aciduria, type 7, Recurrent or severe infection, Neurocognitive developmental aberrations, microcephaly, hypoglycemia, hypotonia, ataxia, seizures, cataracts, IUGR, Congenital defects of phagocyte number or function