FAM20C

FAM20C, golgi associated secretory pathway kinase
OMIM: 611061
PanelMode of inheritanceDetails
11 panels
R-numbers: R340
Signed-off version 3.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Raine Syndrome, 259775, hypoplastic Amelogenesis Imperfecta
R-numbers: R83
Signed-off version 6.3
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Raine syndrome 259775
Green
in Clefting
Component of the following Super Panels:
  • - Paediatric disorders
Signed-off version 5.3
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Raine syndrome, 259775
Green
in DDG2P
Component of the following Super Panels:
  • - Paediatric disorders
Signed-off version 4.3
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
RAINE SYNDROME 259775
R-numbers: R21, R412
Signed-off version 4.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
RAINE SYNDROME
Green
in Hydrocephalus
R-numbers: R86
Signed-off version 4.6
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Raine syndrome, OMIM:259775
R-numbers: R154
Signed-off version 3.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Raine syndrome (259775)
Component of the following Super Panels:
  • - Childhood onset leukodystrophy
  • - Hypotonic infant
  • - Paediatric disorders
R-numbers: R29
Signed-off version 6.13
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
RAINE SYNDROME
Green
in Osteopetrosis
R-numbers: R104.4
Signed-off version 1.1
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Raine syndrome 259775
R-numbers: R100
Signed-off version 5.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Raine syndrome 259775
Component of the following Super Panels:
  • - Paediatric disorders
R-numbers: R104
Signed-off version 5.3
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Raine syndrome 259775