CLPB

ClpB homolog, mitochondrial AAA ATPase chaperonin
OMIM: 616254, Gene2Phenotype

13 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 13 panels
Green CLPB in COVID-19 research Level 2: Viral research Version 1.141	review	BIALLELIC, autosomal or pseudoautosomal	Sources IUIS Classification February 2018 London North GLH NHS GMS GRID V2.0 North West GLH Victorian Clinical Genetics Services Expert Review Green NHS GMS North West GLH London North GLH IUIS Classification February 2018 Victorian Clinical Genetics Services Expert Review Green GRID V2.0 Phenotypes Neurocognitive developmental aberrations, microcephaly, hypoglycemia, hypotonia, ataxia, seizures, cataracts, IUGR Congenital defects of phagocyte number or function 3-methylglutaconic aciduria, type VII, with cataracts, neurologic involvement and neutropenia, 616271 3-methylglutaconic aciduria, type VII 3-methylglutaconic aciduria, type 7 Recurrent or severe infection
Green CLPB in Primary immunodeficiency or monogenic inflammatory bowel disease Version 4.201 Latest signed off version: v4.0 (22 Mar 2023)	review	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources NHS GMS North West GLH London North GLH IUIS Classification February 2018 Victorian Clinical Genetics Services Expert Review Green GRID V2.0 Phenotypes 3-methylglutaconic aciduria, type VIIB, autosomal recessive, OMIM:616271 3-methylglutaconic aciduria, type VIIA, autosomal dominant, OMIM: 619835 Neutropenia, severe congenital, 9, autosomal dominant, OMIM: 619813
Green CLPB in Cytopenia - NOT Fanconi anaemia Version 3.32 Latest signed off version: v3.0 (22 Mar 2023)	review	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Expert review Red NHS GMS North West GLH London South GLH Yorkshire and North East GLH Wessex and West Midlands GLH Phenotypes 3-methylglutaconic aciduria, type VIIB, autosomal recessive, OMIM:616271 3-methylglutaconic aciduria, type VIIA, autosomal dominant, OMIM:619835 Neutropenia, severe congenital, 9, autosomal dominant, OMIM:619813
Green CLPB in Undiagnosed metabolic disorders Level 3: Specific metabolic abnormalities Level 2: Metabolic disorders Version 1.617	review	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes 3-methylglutaconic aciduria, type VIIB, autosomal recessive, OMIM:616271 3-methylglutaconic aciduria, type VIIA, autosomal dominant, OMIM: 619835 Neutropenia, severe congenital, 9, autosomal dominant, OMIM: 619813
Green CLPB in Likely inborn error of metabolism - targeted testing not possible Version 4.137 Latest signed off version: v4.0 (22 Mar 2023) Component of the following Super Panels: Childhood onset leukodystrophy Hypotonic infant Paediatric disorders Unexplained death in infancy and sudden unexplained death in childhood	review	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources NHS GMS Expert Review Green Phenotypes 3-methylglutaconic aciduria, type VIIB, autosomal recessive, OMIM:616271 3-methylglutaconic aciduria, type VIIA, autosomal dominant, OMIM: 619835 Neutropenia, severe congenital, 9, autosomal dominant, OMIM: 619813
Green CLPB in Possible mitochondrial disorder - nuclear genes Version 3.105 Latest signed off version: v3.0 (22 Mar 2023)	review	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources NHS GMS Expert Review Green Phenotypes 3-methylglutaconic aciduria, type VIIB, autosomal recessive, OMIM:616271 3-methylglutaconic aciduria, type VIIA, autosomal dominant, OMIM: 619835 Neutropenia, severe congenital, 9, autosomal dominant, OMIM: 619813
Green CLPB in Fetal anomalies Version 3.155 Latest signed off version: v3.0 (22 Mar 2023)	review	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources NHS GMS PAGE DD-Gene2Phenotype Expert Review Green Phenotypes 3-methylglutaconic aciduria, type VII, with cataracts, neurologic involvement and neutropenia, OMIM:616271
Green CLPB in DDG2P Version 3.87 Latest signed off version: v3.1 (22 Mar 2023) Component of the following Super Panels: Paediatric disorders	review	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes 3-METHYLGLUTACONIC ACIDURIA, TYPE VII, WITH CATARACTS, NEUROLOGIC INVOLVEMENT AND NEUTROPENIA 616271
Green CLPB in Early onset or syndromic epilepsy Level 3: Inherited Epilepsy Syndromes Level 2: Neurology and neurodevelopmental disorders Version 4.193 Latest signed off version: v4.0 (22 Mar 2023) Component of the following Super Panels: Unexplained death in infancy and sudden unexplained death in childhood	review	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources NHS GMS Expert Review Green Literature Phenotypes 3-methylglutaconic aciduria, type VIIB, autosomal recessive, OMIM:616271 3-methylglutaconic aciduria, type VIIA, autosomal dominant, OMIM:619835 Neutropenia, severe congenital, 9, autosomal dominant, OMIM:619813
Green CLPB in Intellectual disability - microarray and sequencing Level 3: Neurodevelopmental disorders Level 2: Neurology and neurodevelopmental disorders Version 5.531 Latest signed off version: v5.0 (22 Mar 2023) Component of the following Super Panels: Childhood onset leukodystrophy Hypotonic infant Paediatric disorders	review	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources NHS GMS Victorian Clinical Genetics Services Expert Review Green Phenotypes 3-methylglutaconic aciduria, type VIIB, autosomal recessive, OMIM:616271 3-methylglutaconic aciduria, type VIIA, autosomal dominant, OMIM:619835 Neutropenia, severe congenital, 9, autosomal dominant, OMIM:619813
Green CLPB in Mitochondrial disorders Level 3: Mitochondrial Level 2: Metabolic disorders Version 4.168 Latest signed off version: v4.0 (22 Mar 2023) Component of the following Super Panels: Childhood onset leukodystrophy	review	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources NHS GMS Victorian Clinical Genetics Services Expert Review Green Expert list Phenotypes 3-methylglutaconic aciduria, type VIIB, autosomal recessive, OMIM:616271 3-methylglutaconic aciduria, type VIIA, autosomal dominant, OMIM: 619835 Neutropenia, severe congenital, 9, autosomal dominant, OMIM: 619813
Green CLPB in Childhood onset dystonia, chorea or related movement disorder Version 3.75 Latest signed off version: v3.0 (22 Mar 2023)	review	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources NHS GMS Expert Review Green London North GLH Phenotypes 3-methylglutaconic aciduria, type VIIB, autosomal recessive, OMIM:616271 3-methylglutaconic aciduria, type VIIA, autosomal dominant, OMIM:619835 Neutropenia, severe congenital, 9, autosomal dominant, OMIM:619813
Green CLPB in Severe Paediatric Disorders Version 1.184	review	BIALLELIC, autosomal or pseudoautosomal	Sources Next Generation Children Project Expert Review Green Expert list Phenotypes 3-methylglutaconic aciduria, type VII, with cataracts, neurologic involvement and neutropenia, OMIM:616271