HSPD1

heat shock protein family D (Hsp60) member 1
OMIM: 118190, Gene2Phenotype

16 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 16 panels
Green HSPD1 in White matter disorders and cerebral calcification - narrow panel Version 3.35 Latest signed off version: v3.0 (22 Mar 2023) Component of the following Super Panels: Childhood onset leukodystrophy	review	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Phenotypes Leukodystrophy, hypomyelinating, 4, OMIM:612233
Green HSPD1 in Inherited white matter disorders Level 3: White matter disorders Level 2: Neurology and neurodevelopmental disorders Version 1.180	review	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Radboud University Medical Center, Nijmegen Phenotypes Leukodystrophy, hypomyelinating, 4, OMIM:612233
Green HSPD1 in Hereditary spastic paraplegia Level 3: Motor Disorders of the CNS Level 2: Neurology and neurodevelopmental disorders Version 1.311	review	BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal	Sources Expert Review Green Radboud University Medical Center, Nijmegen Expert list UKGTN Illumina TruGenome Clinical Sequencing Services Phenotypes Leukodystrophy, hypomyelinating, 4, OMIM:612233 (AR) Spastic paraplegia 13, autosomal dominant, OMIM:605280 (AD)
Green HSPD1 in Childhood onset hereditary spastic paraplegia Version 4.42 Latest signed off version: v4.0 (22 Mar 2023)	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Yorkshire and North East GLH NHS GMS London North GLH Illumina TruGenome Clinical Sequencing Services Expert list UKGTN Radboud University Medical Center, Nijmegen Phenotypes Leukodystrophy, hypomyelinating, 4, OMIM:612233
Amber HSPD1 in Adult onset hereditary spastic paraplegia Version 3.21 Latest signed off version: v3.14 (31 Jul 2023)	review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Amber Yorkshire and North East GLH NHS GMS London North GLH Phenotypes Spastic paraplegia 13, autosomal dominant, OMIM:605280
Red HSPD1 in Adult onset neurodegenerative disorder Version 4.47 Latest signed off version: v4.34 (31 Jul 2023)	review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Red Wessex and West Midlands GLH Yorkshire and North East GLH NHS GMS London North GLH Phenotypes Spastic paraplegia 13, autosomal dominant, OMIM:605280
Green HSPD1 in Undiagnosed metabolic disorders Level 3: Specific metabolic abnormalities Level 2: Metabolic disorders Version 1.617	review	BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Leukodystrophy, hypomyelinating, 4, OMIM:612233 (AR) Spastic paraplegia 13, autosomal dominant, OMIM:605280 (AD)
Green HSPD1 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 (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal	Sources London North GLH NHS GMS Expert Review Green Phenotypes Leukodystrophy, hypomyelinating, 4, OMIM:612233 (AR) Spastic paraplegia 13, autosomal dominant, OMIM:605280 (AD)
Green HSPD1 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 Leukodystrophy, hypomyelinating, 4, OMIM:612233 (AR) Spastic paraplegia 13, autosomal dominant, OMIM:605280 (AD)
Green HSPD1 in Fetal anomalies Version 3.155 Latest signed off version: v3.0 (22 Mar 2023)	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green PAGE DD-Gene2Phenotype Phenotypes LEUKODYSTROPHY HYPOMYELINATING TYPE 4
Green HSPD1 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 Expert Review Green DD-Gene2Phenotype Phenotypes LEUKODYSTROPHY HYPOMYELINATING TYPE 4, OMIM:612233
Amber HSPD1 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	BIALLELIC, autosomal or pseudoautosomal	Sources Wessex and West Midlands GLH NHS GMS Expert Review Amber Victorian Clinical Genetics Services Phenotypes Leukodystrophy, hypomyelinating, 4, OMIM:612233 Tags watchlist
Green HSPD1 in Intellectual disability - microarray and sequencing Level 3: Neurodevelopmental disorders Level 2: Neurology and neurodevelopmental disorders Version 5.532 Latest signed off version: v5.0 (22 Mar 2023) Component of the following Super Panels: Childhood onset leukodystrophy Hypotonic infant Paediatric disorders	review	BIALLELIC, autosomal or pseudoautosomal	Sources NHS GMS Victorian Clinical Genetics Services Expert Review Green Radboud University Medical Center, Nijmegen Phenotypes Leukodystrophy, hypomyelinating, 4, OMIM:612233
Green HSPD1 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 (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal	Sources Victorian Clinical Genetics Services Expert Review Green Radboud University Medical Center, Nijmegen Expert Phenotypes Leukodystrophy, hypomyelinating, 4, OMIM:612233 (AR) Spastic paraplegia 13, autosomal dominant, OMIM:605280 (AD)
Green HSPD1 in Childhood onset dystonia, chorea or related movement disorder Version 3.75 Latest signed off version: v3.0 (22 Mar 2023)	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green London North GLH Phenotypes Leukodystrophy, hypomyelinating, 4, OMIM:612233
Green HSPD1 in Severe Paediatric Disorders Version 1.184	review	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Next Generation Children Project Expert Review Green Expert list Phenotypes Spastic paraplegia 13, autosomal dominant, 605280 Leukodystrophy, hypomyelinating, 4, 612233