Genomics England

HSPD1

heat shock protein family D (Hsp60) member 1

Panel	Mode of inheritance	Details
Filter panels9 panels
Green in Childhood onset dystonia, chorea or related movement disorder R-numbers: R57 Signed-off version 3.56	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Leukodystrophy, hypomyelinating, 4, OMIM:612233
Green in Childhood onset hereditary spastic paraplegia R-numbers: R61 Signed-off version 4.28	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Leukodystrophy, hypomyelinating, 4, OMIM:612233
Green in DDG2P Component of the following Super Panels: - Paediatric disorders Signed-off version 3.79	BIALLELIC, autosomal or pseudoautosomal	Phenotypes LEUKODYSTROPHY HYPOMYELINATING TYPE 4, OMIM:612233
Green in Fetal anomalies R-numbers: R21, R412 Signed-off version 3.122	BIALLELIC, autosomal or pseudoautosomal	Phenotypes LEUKODYSTROPHY HYPOMYELINATING TYPE 4
Green in Intellectual disability Component of the following Super Panels: - Childhood onset leukodystrophy - Hypotonic infant - Paediatric disorders R-numbers: R29 Signed-off version 5.343	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Leukodystrophy, hypomyelinating, 4, OMIM:612233
Green in Likely inborn error of metabolism - targeted testing not possible Component of the following Super Panels: - Childhood onset leukodystrophy - Hypotonic infant - Paediatric disorders - Unexplained death in infancy and sudden unexplained death in childhood R-numbers: R98 Signed-off version 4.78	BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal	Phenotypes Leukodystrophy, hypomyelinating, 4, OMIM:612233 (AR), Spastic paraplegia 13, autosomal dominant, OMIM:605280 (AD)
Green in Mitochondrial disorders Component of the following Super Panels: - Childhood onset leukodystrophy Signed-off version 4.114	BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal	Phenotypes Leukodystrophy, hypomyelinating, 4, OMIM:612233 (AR), Spastic paraplegia 13, autosomal dominant, OMIM:605280 (AD)
Green in Possible mitochondrial disorder - nuclear genes R-numbers: R63 Signed-off version 3.69	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Phenotypes Leukodystrophy, hypomyelinating, 4, OMIM:612233 (AR), Spastic paraplegia 13, autosomal dominant, OMIM:605280 (AD)
Green in White matter disorders and cerebral calcification - narrow panel Component of the following Super Panels: - Childhood onset leukodystrophy Signed-off version 3.24	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Phenotypes Leukodystrophy, hypomyelinating, 4, OMIM:612233