GLI3

GLI family zinc finger 3
OMIM: 165240, ClinGen, DECIPHER

25 panels

Panel Reviews Mode of inheritance Details
25 panels

Green GLI3 in Skeletal Dysplasia_Fetal


Level 2: Skeletal disorders
Version 1.0

2 reviews Unknown
Sources
  • Expert Review Green
  • Expert list
  • Expert Review
  • Victorian Clinical Genetics Services
  • Expert Review Green
  • Melbourne Genomics Health Alliance Perinatal Autopsy Flagship

Green GLI3 in Congenital anomalies of the kidney and urinary tract (CAKUT)


Level 2: Renal and urinary tract disorders
Version 1.0

3 reviews Unknown
Sources
  • Expert Review Green
  • Expert Review Green
  • Expert list
  • Expert Review Green
  • Victorian Clinical Genetics Services
  • Victorian Clinical Genetics Services
  • Victorian Clinical Genetics Services
  • Expert Review Green

Green GLI3 in Congenital Heart Defect


Level 2: Cardiovascular disorders
Version 1.0

2 reviews MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Expert list
  • Literature
Phenotypes
  • Pallister-Hall syndrome, MIM# 146510
  • ASD, VSD, AVSD, aortic arch anomaly, PDA

Green GLI3 in Ciliopathies


Level 2: Dysmorphic and congenital abnormality syndromes
Version 2.0

2 reviews MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Expert list
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Greig cephalopolysyndactyly syndrome (MIM#175700)
  • Pallister-Hall syndrome (MIM#146510)

Green GLI3 in Craniosynostosis


Level 2: Dysmorphic and congenital abnormality syndromes
Version 2.0

1 review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Expert list
Phenotypes
  • Metopic craniosynostosis
  • Greig cephalopolysyndactyly syndrome MIM#175700

Red GLI3 in Holoprosencephaly and septo-optic dysplasia


Level 2: Neurology and neurodevelopmental disorders
Version 2.0

3 reviews MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Red
  • Victorian Clinical Genetics Services
Phenotypes
  • Pallister-Hall syndrome, MIM# 146510

Green GLI3 in Hydrocephalus_Ventriculomegaly


Level 2: Neurology and neurodevelopmental disorders
Version 1.0

0 reviews Unknown
Sources
  • Victorian Clinical Genetics Services
  • Expert Review Green

Amber GLI3 in Joubert syndrome and other neurological ciliopathies


Level 2: Neurology and neurodevelopmental disorders
Version 2.0

1 review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Amber
  • Expert Review
Phenotypes
  • Greig cephalopolysyndactyly syndrome (MIM#175700)
  • Pallister-Hall syndrome (MIM#146510)

Green GLI3 in Macrocephaly_Megalencephaly


Level 2: Dysmorphic and congenital abnormality syndromes
Version 1.0

0 reviews Unknown
Sources
  • Victorian Clinical Genetics Services
  • Expert Review Green

Green GLI3 in Mendeliome


Version 2.0

3 reviews MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Expert Review Green
  • Expert list
  • Expert Review Green
  • Victorian Clinical Genetics Services
  • Victorian Clinical Genetics Services
Phenotypes
  • Polydactyly, postaxial, types A1 and B, MIM#174200
  • Greig cephalopolysyndactyly syndrome MIM#175700
  • Polydactyly, preaxial, type IV MIM#174700
  • Pallister-Hall syndrome MIM#146510

Amber GLI3 in Overgrowth


Level 2: Dysmorphic and congenital abnormality syndromes
Version 2.0

1 review Unknown
Sources
  • Expert Review Amber
  • Victorian Clinical Genetics Services

Green GLI3 in Polydactyly


Level 2: Dysmorphic and congenital abnormality syndromes
Version 1.0

2 reviews MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Greig cephalopolysyndactyly syndrome, MIM# 175700
  • Pallister-Hall syndrome, MIM# 146510
  • Polydactyly, postaxial, types A1 and B, MIM# 174200
  • Polydactyly, preaxial, type IV, MIM# 174700

Green GLI3 in Skeletal Ciliopathies


Level 2: Skeletal disorders
Version 2.0

1 review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Expert list
Phenotypes
  • Greig cephalopolysyndactyly syndrome, MIM# 175700
  • Polydactyly

Green GLI3 in Genetic Epilepsy


Level 2: Neurology and neurodevelopmental disorders
Version 2.0

1 review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Expert Review
Phenotypes
  • Pallister-Hall syndrome, MIM# 146510

Green GLI3 in Callosome


Level 2: Neurology and neurodevelopmental disorders
Version 1.0

0 reviews Unknown
Sources
  • Victorian Clinical Genetics Services
  • Expert Review Green

Green GLI3 in Intellectual disability syndromic and non-syndromic


Level 2: Neurology and neurodevelopmental disorders
Version 2.0

1 review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Genetic Health Queensland
Phenotypes
  • Greig cephalopolysyndactyly syndrome MONDO:0008287

Green GLI3 in Skeletal dysplasia

Level 3: Skeletal dysplasias
Level 2: Skeletal disorders
Version 1.0

3 reviews MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Expert Review Green
  • Expert list
  • Expert Review Green
  • Illumina TruGenome Clinical Sequencing Services
  • UKGTN
  • Radboud University Medical Center, Nijmegen
  • Expert Review Green
  • NHS GMS
  • Expert list
  • Emory Genetics Laboratory
  • Victorian Clinical Genetics Services
  • Victorian Clinical Genetics Services
Phenotypes
  • {Hypothalamic hamartomas, somatic} 241800
  • Polydactyly, postaxial, types A1 and B 174200
  • Greig cephalopolysyndactyly syndrome 175700
  • Pallister-Hall syndrome 146510
  • Polydactyly, preaxial, type IV 174700

Green GLI3 in Pituitary hormone deficiency

Level 3: Pituitary disorders
Level 2: Endocrine disorders
Version 1.0

1 review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • Genomics England PanelApp
  • Genomics England PanelApp
Phenotypes
  • Greig cephalopolysyndactyly syndrome (175700)
  • Pallister-Hall syndrome (146510)

Green GLI3 in Additional findings_Paediatric


Level 2: Screening
Version 1.0

0 reviews MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • BabySeq Category A gene
  • Expert Review Green
Phenotypes
  • Greig cephalopolysyndactyly syndrome

Green GLI3 in Clefting disorders

Level 3: Dysmorphic disorders
Level 2: Dysmorphic and congenital abnormality syndromes
Version 1.0

0 reviews MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Radboud University Medical Center, Nijmegen
  • Illumina TruGenome Clinical Sequencing Services
  • UKGTN
  • Expert list
Phenotypes
  • Pallister-Hall syndrome, 146510

Green GLI3 in Growth failure


Version 2.0

1 review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Genomics England PanelApp
Phenotypes
  • Pallister-Hall syndrome, MIM# 146510

Green GLI3 in Fetal anomalies


Version 2.0

2 reviews MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Genomics England PanelApp
  • Expert list
  • Expert Review
  • Victorian Clinical Genetics Services
  • Melbourne Genomics Health Alliance Perinatal Autopsy Flagship
Phenotypes
  • Greig cephalopolysyndactyly syndrome, MIM# 175700
  • Polydactyly

Red GLI3 in Genomic newborn screening: BabyScreen+


Level 2: Screening
Version 2.0

1 review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Red
  • BabySeq Category A gene
Phenotypes
  • Polydactyly, postaxial, types A1 and B, MIM#174200
  • Greig cephalopolysyndactyly syndrome MIM#175700
  • Polydactyly, preaxial, type IV MIM#174700
  • Pallister-Hall syndrome MIM#146510

Green GLI3 in Hypogonadotropic hypogonadism

Level 3: Pituitary disorders
Level 2: Endocrine disorders
Version 1.0

1 review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Genomics England PanelApp
  • Expert Review Green
  • Genomics England PanelApp
  • Expert Review Green
  • Expert Review Green
  • Genomics England PanelApp
Phenotypes
  • Greig cephalopolysyndactyly syndrome (175700)
  • Pallister-Hall syndrome (146510)

Green GLI3 in Adrenal insufficiency

Level 3: Adrenal disorders
Level 2: Endocrine disorders
Version 1.0

1 review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • Genomics England PanelApp
  • Genomics England PanelApp
  • Genomics England PanelApp
Phenotypes
  • Greig cephalopolysyndactyly syndrome (175700)
  • Pallister-Hall syndrome (146510)