Genomics England

GLI3

GLI family zinc finger 3

Panel	Mode of inheritance	Details
Filter panels13 panels
Green in Clefting Component of the following Super Panels: - Paediatric disorders Signed-off version 4.0	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Phenotypes Pallister-Hall syndrome, 146510
Green in DDG2P Component of the following Super Panels: - Paediatric disorders Signed-off version 3.1	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
Green in Fetal anomalies R-numbers: R21, R412 Signed-off version 3.0	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 4.0	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Phenotypes Greig cephalopolysyndactyly syndrome, OMIM:175700
Green in Intellectual disability - microarray and sequencing Component of the following Super Panels: - Childhood onset leukodystrophy - Hypotonic infant - Paediatric disorders R-numbers: R29 Signed-off version 5.0	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
Green in Limb disorders Component of the following Super Panels: - Paediatric disorders Signed-off version 4.0	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
Green in Neurological ciliopathies Component of the following Super Panels: - Hereditary ataxia and cerebellar anomalies - childhood onset - Paediatric disorders - Rare multisystem ciliopathy Super panel Signed-off version 3.0	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Phenotypes Joubert Syndrome and Senior-Loken Syndrome 24 gene panel
Green in Ophthalmological ciliopathies Component of the following Super Panels: - Paediatric disorders - Rare multisystem ciliopathy Super panel Signed-off version 3.0	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Phenotypes Joubert Syndrome and Senior-Loken Syndrome 24 gene panel
Green in Pituitary hormone deficiency R-numbers: R159 Signed-off version 3.0	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Phenotypes Greig cephalopolysyndactyly syndrome (175700), Pallister-Hall syndrome (146510)
Green in Rare syndromic craniosynostosis or isolated multisuture synostosis R-numbers: R100 Signed-off version 4.0	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Phenotypes Greig cephalopolysyndactyly syndrome 175700, 175700
Green in Skeletal ciliopathies Component of the following Super Panels: - Paediatric disorders - Rare multisystem ciliopathy Super panel Signed-off version 3.1	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Phenotypes Joubert Syndrome and Senior-Loken Syndrome 24 gene panel
Green in Skeletal dysplasia Component of the following Super Panels: - Paediatric disorders R-numbers: R104 Signed-off version 4.0	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
Green in Unexplained young onset end-stage renal disease R-numbers: R257 Signed-off version 3.0	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Phenotypes Pallister-Hall syndrome, Pallister-Hall syndrome 146510