LONP1

lon peptidase 1, mitochondrial
OMIM: 605490
PanelMode of inheritanceDetails
9 panels
R-numbers: R31
Signed-off version 5.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
CODAS syndrome, 600373
Green
in DDG2P
Component of the following Super Panels:
  • - Paediatric disorders
Signed-off version 4.6
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
CODAS SYNDROME 600373
R-numbers: R21, R412
Signed-off version 4.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
CODAS syndrome, OMIM:600373, CODAS syndrome, MONDO:0010879
Component of the following Super Panels:
  • - Childhood onset leukodystrophy
  • - Hypotonic infant
  • - Paediatric disorders
R-numbers: R29
Signed-off version 7.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
CODAS syndrome, 600373, Cerebral, ocular, dental, auricular, and skeletal anomalies syndrome
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 6.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
CODAS (cerebral, ocular, dental, auricular and skeletal) syndrome (MIM 600373)
Component of the following Super Panels:
  • - Childhood onset leukodystrophy
Signed-off version 7.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
CODAS (cerebral, ocular, dental, auricular and skeletal) syndrome (MIM 600373)
R-numbers: R63
Signed-off version 3.105
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
CODAS syndrome, 600373
R-numbers: R316
Signed-off version 1.2
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
CODAS syndrome, 600373
Component of the following Super Panels:
  • - Paediatric disorders
R-numbers: R104
Signed-off version 6.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
CODAS (Cerebral, Ocular, Dental, Auricular and Skeletal anomalies) syndrome 600373