SC5D

sterol-C5-desaturase
OMIM: 602286
PanelMode of inheritanceDetails
5 panels
R-numbers: R31
Signed-off version 4.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Green
in DDG2P
Component of the following Super Panels:
  • - Paediatric disorders
Signed-off version 4.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
LATHOSTEROLOSIS 607330
R-numbers: R21, R412
Signed-off version 4.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
LATHOSTEROLOSIS
Component of the following Super Panels:
  • - Childhood onset leukodystrophy
  • - Hypotonic infant
  • - Paediatric disorders
R-numbers: R29
Signed-off version 6.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Lathosterolosis, 607330, LATHOSTEROLOSIS (LATHST)
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 5.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Lathosterolosis, 607330, Intellectual disability, Cataracts