GLI3

GLI family zinc finger 3
OMIM: 165240
PanelMode of inheritanceDetails
13 panels
Green
in Clefting
Component of the following Super Panels:
  • - Paediatric disorders
Signed-off version 2.2
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
Pallister-Hall syndrome, 146510
R-numbers: R100
Signed-off version 2.2
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Greig cephalopolysyndactyly syndrome 175700, 175700
Green
in DDG2P
Component of the following Super Panels:
  • - Paediatric disorders
Signed-off version 2.2
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
PREAXIAL POLYDACTYLY TYPE IV 269157, GREIG CEPHALOPOLYSYNDACTYLY SYNDROME 175700, POSTAXIAL POLYDACTYLY TYPE A 174200, PALLISTER-HALL SYNDROME 146510
R-numbers: R21
Signed-off version 1.92
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
PALLISTER-HALL SYNDROME, GREIG CEPHALOPOLYSYNDACTYLY SYNDROME, PREAXIAL POLYDACTYLY TYPE IV, POSTAXIAL POLYDACTYLY TYPE A
Green
in Hydrocephalus
R-numbers: R86
Signed-off version 2.3
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
Greig cephalopolysyndactyly syndrome
Component of the following Super Panels:
  • - Hypotonic infant
  • - Paediatric disorders
  • - White matter disorders - childhood onset
R-numbers: R29
Signed-off version 3.2
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Greig cephalopolysyndactyly syndrome, 175700Pallister-Hall syndrome, 146510Polydactyly, preaxial, type IV, 174700Polydactyly, postaxial, types A1 and B, 174200{Hypothalamic hamartomas, somatic}, 241800, GREIG CEPHALOPOLYSYNDACTYLY SYNDROME
Component of the following Super Panels:
  • - Paediatric disorders
Signed-off version 2.2
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Greig cephalopolysyndactyly syndrome 175700, Pallister-Hall syndrome 146510, Polydactyly, postaxial, types A1 and B 174200, Polydactyly, preaxial, type IV 174700, {Hypothalamic hamartomas, somatic} 241800, Polydactyly
Component of the following Super Panels:
  • - Hereditary ataxia and cerebellar anomalies - childhood onset
  • - Paediatric disorders
  • - Rare multisystem ciliopathy Super panel
Signed-off version 1.5
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
Joubert Syndrome and Senior-Loken Syndrome 24 gene panel
Component of the following Super Panels:
  • - Paediatric disorders
  • - Rare multisystem ciliopathy Super panel
Signed-off version 1.3
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
Joubert Syndrome and Senior-Loken Syndrome 24 gene panel
R-numbers: R159
Signed-off version 2.2
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
Greig cephalopolysyndactyly syndrome (175700), Pallister-Hall syndrome (146510)
Component of the following Super Panels:
  • - Paediatric disorders
  • - Rare multisystem ciliopathy Super panel
Signed-off version 1.2
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
Joubert Syndrome and Senior-Loken Syndrome 24 gene panel
Component of the following Super Panels:
  • - Paediatric disorders
R-numbers: R104
Signed-off version 2.2
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Greig cephalopolysyndactyly syndrome 175700, Polydactyly, postaxial, types A1 and B 174200, Polydactyly, preaxial, type IV 174700, Pallister-Hall syndrome 146510, {Hypothalamic hamartomas, somatic} 241800
R-numbers: R257
Signed-off version 1.2
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Pallister-Hall syndrome, Pallister-Hall syndrome 146510