PEX7

peroxisomal biogenesis factor 7
OMIM: 601757
PanelMode of inheritanceDetails
11 panels
R-numbers: R83
Signed-off version 4.1
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Rhizomelic chondrodysplasia punctata, type 1 215100
Green
in Cataracts
R-numbers: R31
Signed-off version 3.3
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Peroxisome biogenesis disorder 9B, OMIM:614879, Rhizomelic chondrodysplasia punctata, type 1, OMIM:215100
Green
in DDG2P
Component of the following Super Panels:
  • - Paediatric disorders
Signed-off version 3.1
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
REFSUM DISEASE 266500, RHIZOMELIC CHONDRODYSPLASIA PUNCTATA TYPE 1 215100, PEROXISOME BIOGENESIS DISORDER COMPLEMENTATION GROUP 11 601757
R-numbers: R21, R412
Signed-off version 2.4
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 3.2
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 4.4
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 3.1
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 2.1
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Refsum disease
R-numbers: R32
Signed-off version 3.3
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Eye Disorders, Refsum disease
Component of the following Super Panels:
  • - Paediatric disorders
R-numbers: R104
Signed-off version 3.1
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 2.1
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Peroxisome biogenesis disorder 9B, 614879