PEX7

peroxisomal biogenesis factor 7
OMIM: 601757
PanelMode of inheritanceDetails
11 panels
R-numbers: R83
Signed-off version 3.2
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Rhizomelic chondrodysplasia punctata, type 1 215100
Green
in Cataracts
R-numbers: R31
Signed-off version 2.76
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Rhizomelic chondrodysplasia punctata type 1, Confirmed DD gene for Rhizomelic chondrodysplasia punctata type 1, Refsum disease, Peroxisome biogenesis disorder
Green
in DDG2P
Component of the following Super Panels:
  • - Paediatric disorders
Signed-off version 2.2
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
REFSUM DISEASE 266500, RHIZOMELIC CHONDRODYSPLASIA PUNCTATA TYPE 1 215100, PEROXISOME BIOGENESIS DISORDER COMPLEMENTATION GROUP 11 601757
R-numbers: R21
Signed-off version 1.92
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
PEROXISOME BIOGENESIS DISORDER COMPLEMENTATION GROUP 11, RHIZOMELIC CHONDRODYSPLASIA PUNCTATA TYPE 1, REFSUM DISEASE
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
Peroxisome biogenesis disorder 9B 614879, Rhizomelic chondrodysplasia punctata, type 1, Rhizomelic chondrodysplasia punctata type 1 (Peroxisomal disorders)
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
Rhizomelic chondrodysplasia punctata, type 1, 215100, Peroxisome biogenesis disorder 9B, 614879, REFSUM DISEASE (RD)
Component of the following Super Panels:
  • - Cerebral malformations
Signed-off version 2.2
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Rhizomelic chondrodysplasia punctata type 1 (Peroxisomal disorders), Peroxisome biogenesis disorder 9B, 614879, Rhizomelic chondrodysplasia punctata, type 1, 215100
R-numbers: R166
Signed-off version 1.3
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Refsum disease
R-numbers: R32, R33, R34, R35
Signed-off version 2.195
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Eye Disorders, Refsum disease
Component of the following Super Panels:
  • - Paediatric disorders
R-numbers: R104
Signed-off version 2.2
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Rhizomelic chondrodysplasia punctata, type 1, 215100, Rhizomelic CDP type 1, Rhizomelic chondrodysplasia punctata, type 1, 215100
R-numbers: R62
Signed-off version 1.25
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Peroxisome biogenesis disorder 9B, 614879