HSPD1

heat shock protein family D (Hsp60) member 1
OMIM: 118190
PanelMode of inheritanceDetails
9 panels
R-numbers: R57
Signed-off version 4.3
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Leukodystrophy, hypomyelinating, 4, OMIM:612233
R-numbers: R61
Signed-off version 5.3
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Leukodystrophy, hypomyelinating, 4, OMIM:612233
Green
in DDG2P
Component of the following Super Panels:
  • - Paediatric disorders
Signed-off version 4.3
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
LEUKODYSTROPHY HYPOMYELINATING TYPE 4, OMIM:612233
R-numbers: R21, R412
Signed-off version 4.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
LEUKODYSTROPHY HYPOMYELINATING TYPE 4
Component of the following Super Panels:
  • - Childhood onset leukodystrophy
  • - Hypotonic infant
  • - Paediatric disorders
R-numbers: R29
Signed-off version 6.13
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Leukodystrophy, hypomyelinating, 4, OMIM:612233
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 5.6
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)
Component of the following Super Panels:
  • - Childhood onset leukodystrophy
Signed-off version 6.4
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)
R-numbers: R63
Signed-off version 3.105
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes
Leukodystrophy, hypomyelinating, 4, OMIM:612233 (AR), Spastic paraplegia 13, autosomal dominant, OMIM:605280 (AD)
Component of the following Super Panels:
  • - Childhood onset leukodystrophy
Signed-off version 4.3
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes
Leukodystrophy, hypomyelinating, 4, OMIM:612233