LONP1

lon peptidase 1, mitochondrial
OMIM: 605490
PanelMode of inheritanceDetails
7 panels
Green
in Cataracts
R-numbers: R31
Signed-off version 2.76
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
CODAS syndrome, 600373
Component of the following Super Panels:
  • - Hypotonic infant
  • - Paediatric disorders
  • - White matter disorders - childhood onset
R-numbers: R98
Signed-off version 2.3
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
CODAS (cerebral, ocular, dental, auricular and skeletal) syndrome (MIM 600373)
Component of the following Super Panels:
  • - Hypotonic infant
  • - Paediatric disorders
  • - White matter disorders - childhood onset
R-numbers: R29
Signed-off version 3.2
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
CODAS syndrome, 600373, Cerebral, ocular, dental, auricular, and skeletal anomalies syndrome
Component of the following Super Panels:
  • - White matter disorders - childhood onset
Signed-off version 2.4
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
CODAS (cerebral, ocular, dental, auricular and skeletal) syndrome (MIM 600373)
R-numbers: R63
Signed-off version 1.17
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 2.2
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
CODAS (Cerebral, Ocular, Dental, Auricular and Skeletal anomalies) syndrome 600373