HSPD1

heat shock protein family D (Hsp60) member 1
OMIM: 118190
PanelMode of inheritanceDetails
7 panels
R-numbers: R57
Signed-off version 1.137
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes
Spastic paraplegia 13, autosomal dominant, 605280, Leukodystrophy, hypomyelinating, 4, 612233
Green
in DDG2P
Component of the following Super Panels:
  • - Paediatric disorders
Signed-off version 2.2
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
LEUKODYSTROPHY HYPOMYELINATING TYPE 4 612233
R-numbers: R21
Signed-off version 1.92
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
LEUKODYSTROPHY HYPOMYELINATING TYPE 4
Component of the following Super Panels:
  • - Hypotonic infant
  • - Paediatric disorders
  • - White matter disorders - childhood onset
R-numbers: R98
Signed-off version 2.3
BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Phenotypes
Miscellaneous disorders/unknown function (Mitochondrial respiratory chain disorders (caused by nuclear variants only)), Leukodystrophy, hypomyelinating, 4, 612233, Spastic paraplegia 13, autosomal dominant, 605280
Component of the following Super Panels:
  • - Hypotonic infant
  • - Paediatric disorders
  • - White matter disorders - childhood onset
R-numbers: R29
Signed-off version 3.2
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes
Spastic paraplegia 13, autosomal dominant, 605280Leukodystrophy, hypomyelinating, 4, 612233, SPASTIC PARAPLEGIA AUTOSOMAL DOMINANT TYPE 13
Component of the following Super Panels:
  • - White matter disorders - childhood onset
Signed-off version 2.4
BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Phenotypes
Spastic paraplegia 13, autosomal dominant, 605280, Leukodystrophy, hypomyelinating, 4, 612233
R-numbers: R63
Signed-off version 1.17
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes
Spastic paraplegia 13, autosomal dominant 605280, Leukodystrophy, hypomyelinating, 4, 612233