GLI3

Green GLI3 in IUGR and IGF abnormalities

Level 3: Growth hormone disorders
Level 2: Endocrine disorders
Version 1.69

Sources

• Expert Review Green
• Literature

Phenotypes

• Pallister-Hall syndrome

Red GLI3 in VACTERL-like phenotypes

Level 3: Limb disorders
Level 2: Dysmorphic and congenital abnormality syndromes
Version 1.34

Sources

• Emory Genetics Laboratory

Green GLI3 in Hydrocephalus

Version 4.6
Latest signed off version: v4.0 (22 Mar 2023)

Sources

• NHS GMS
• Expert Review Green
• Literature

Phenotypes

• Greig cephalopolysyndactyly syndrome, OMIM:175700

Green GLI3 in Pituitary hormone deficiency

Version 3.12
Latest signed off version: v3.0 (22 Mar 2023)

Sources

• Expert Review Green
• Illumina TruGenome Clinical Sequencing Services
• Radboud University Medical Center
• Emory Genetics Laboratory

Phenotypes

• Greig cephalopolysyndactyly syndrome, OMIM:175700
• Pallister-Hall syndrome, OMIM:146510

Green GLI3 in Limb disorders

Version 5.4
Latest signed off version: v5.0 (1 May 2024)

Component of the following Super Panels:

Sources

• Expert Review Green
• Victorian Clinical Genetics Services
• UKGTN
• Emory Genetics Laboratory
• Expert list
• Illumina TruGenome Clinical Sequencing Services
• Radboud University Medical Center, Nijmegen
• London South East RGC GSTT
• Viapath

Phenotypes

• Greig cephalopolysyndactyly syndrome, OMIM:175700
• Pallister-Hall syndrome, OMIM:146510
• Polydactyly, postaxial, types A1 and B, OMIM:174200
• Polydactyly, preaxial, type IV, OMIM:174700

Green GLI3 in Unexplained kidney failure in young people

Level 3: Disorders of function
Level 2: Renal and urinary tract disorders
Version 1.119

Component of the following Super Panels:

Sources

• Expert Review Green
• Radboud University Medical Center, Nijmegen
• UKGTN
• Illumina TruGenome Clinical Sequencing Services
• Expert list

Phenotypes

• Pallister-Hall syndrome, OMIM:146510

Green GLI3 in Skeletal dysplasia

Level 3: Skeletal dysplasias
Level 2: Skeletal disorders
Version 5.3
Latest signed off version: v5.0 (1 May 2024)

Component of the following Super Panels:

Sources

• NHS GMS
• Expert Review Green
• UKGTN
• Emory Genetics Laboratory
• Expert list
• Radboud University Medical Center, Nijmegen
• Illumina TruGenome Clinical Sequencing Services

Phenotypes

• Greig cephalopolysyndactyly syndrome, OMIM:175700
• Pallister-Hall syndrome, OMIM:146510
• Polydactyly, postaxial, types A1 and B, OMIM:174200
• Polydactyly, preaxial, type IV, OMIM:174700

Green GLI3 in CAKUT

Level 3: Structural renal and urinary tract disease
Level 2: Renal and urinary tract disorders
Version 1.177

Component of the following Super Panels:

Sources

• Expert Review Green
• Expert list

Phenotypes

• Pallister-Hall syndrome, OMIM:146510

Green GLI3 in Unexplained young onset end-stage renal disease

Version 4.3
Latest signed off version: v4.0 (1 May 2024)

Component of the following Super Panels:

Sources

• Expert Review Green
• Expert Review Green

Phenotypes

• Pallister-Hall syndrome, OMIM:146510

Green GLI3 in Non-syndromic familial congenital anorectal malformations

Level 3: Gastrointestinal disorders
Level 2: Gastroenterological disorders
Version 1.9

Sources

• Expert Review Green
• Expert list

Phenotypes

• anorectal malformation
• Pallister-Hall syndrome 146510

Green GLI3 in Fetal anomalies

Version 4.1
Latest signed off version: v4.0 (1 May 2024)

Sources

• PAGE DD-Gene2Phenotype
• Expert Review Green

Phenotypes

• Greig cephalopolysyndactyly syndrome, OMIM:175700
• Pallister-Hall syndrome, OMIM:146510
• Polydactyly, postaxial, types A1 and B, OMIM:174200
• Polydactyly, preaxial, type IV, OMIM:174700

Green GLI3 in Rare syndromic craniosynostosis or isolated multisuture synostosis

Level 3: Craniosynostosis syndromes
Level 2: Skeletal disorders
Version 5.1
Latest signed off version: v5.0 (1 May 2024)

Sources

• NHS GMS
• Expert Review Green
• Expert list

Phenotypes

• Greig cephalopolysyndactyly syndrome, OMIM:175700

No list GLI3 in Osteogenesis imperfecta

Level 3: Skeletal dysplasias
Level 2: Skeletal disorders
Version 4.5
Latest signed off version: v4.0 (22 Mar 2023)

Sources

• Expert Review Removed
• Emory Genetics Laboratory

Phenotypes

• Disproportionate Short Stature

Tags

• curated_removed

Green GLI3 in DDG2P

Version 4.3
Latest signed off version: v4.0 (1 May 2024)

Component of the following Super Panels:

Sources

• DD-Gene2Phenotype
• Expert Review Green

Phenotypes

• PREAXIAL POLYDACTYLY TYPE IV 269157
• GREIG CEPHALOPOLYSYNDACTYLY SYNDROME 175700
• POSTAXIAL POLYDACTYLY TYPE A 174200
• PALLISTER-HALL SYNDROME 146510

Red GLI3 in Monogenic hearing loss

Level 3: Non-syndromic hearing loss
Level 2: Hearing and ear disorders
Version 4.41
Latest signed off version: v4.39 (1 May 2024)

Component of the following Super Panels:

Sources

• Expert

Green GLI3 in Clefting

Level 3: Dysmorphic disorders
Level 2: Dysmorphic and congenital abnormality syndromes
Version 5.3
Latest signed off version: v5.0 (1 May 2024)

Component of the following Super Panels:

Sources

• Illumina TruGenome Clinical Sequencing Services
• Radboud University Medical Center, Nijmegen
• UKGTN
• Expert list

Phenotypes

• Pallister-Hall syndrome, OMIM:146510

Red GLI3 in Growth failure in early childhood

Version 3.95
Latest signed off version: v3.0 (22 Mar 2023)

Sources

• Expert Review Red

Phenotypes

• Pallister-Hall syndrome, OMIM:146510

Amber GLI3 in Early onset or syndromic epilepsy

Level 3: Inherited Epilepsy Syndromes
Level 2: Neurology and neurodevelopmental disorders
Version 5.6
Latest signed off version: v5.0 (1 May 2024)

Component of the following Super Panels:

Sources

• Wessex and West Midlands GLH
• NHS GMS
• Expert Review Amber
• Victorian Clinical Genetics Services

Phenotypes

• Greig cephalopolysyndactyly syndrome, OMIM:175700
• Pallister-Hall syndrome, OMIM:146510

Green GLI3 in Intellectual disability

Level 3: Neurodevelopmental disorders
Level 2: Neurology and neurodevelopmental disorders
Version 6.11
Latest signed off version: v6.0 (1 May 2024)

Component of the following Super Panels:

Sources

• Expert Review Green
• Victorian Clinical Genetics Services
• Radboud University Medical Center, Nijmegen

Phenotypes

• Greig cephalopolysyndactyly syndrome, OMIM:175700
• Pallister-Hall syndrome, OMIM:146510

Tags

• Q2_24_demote_amber
• Q2_24_NHS_review

Red GLI3 in Hereditary ataxia with onset in adulthood

Version 5.3
Latest signed off version: v5.0 (1 May 2024)

Sources

• NHS GMS
• Wessex and West Midlands GLH

Phenotypes

• Greig syndrome, 175700
• Pallister-Hall syndrome, 146510
• Polydactyly type IV, 174700
• Polydactyly types A1/B, 174200

Green GLI3 in Rare multisystem ciliopathy disorders

Level 3: Congenital malformations caused by ciliopathies
Level 2: Ciliopathies
Version 1.172

Sources

• Expert Review Green
• UKGTN
• Expert list

Phenotypes

• Greig cephalopolysyndactyly syndrome, OMIM:175700
• Pallister-Hall syndrome, OMIM:146510

Green GLI3 in Ophthalmological ciliopathies

Version 4.1
Latest signed off version: v4.0 (1 May 2024)

Component of the following Super Panels:

Sources

• Expert Review Green
• Expert list
• UKGTN

Phenotypes

• Greig cephalopolysyndactyly syndrome, OMIM:175700
• Pallister-Hall syndrome, OMIM:146510

Green GLI3 in Neurological ciliopathies

Level 3: Congenital malformations caused by ciliopathies
Level 2: Ciliopathies
Version 4.1
Latest signed off version: v4.0 (1 May 2024)

Component of the following Super Panels:

Sources

• Expert Review Green

Phenotypes

• Greig cephalopolysyndactyly syndrome, OMIM:175700
• Pallister-Hall syndrome, OMIM:146510

Green GLI3 in Skeletal ciliopathies

Level 3: Congenital malformations caused by ciliopathies
Level 2: Ciliopathies
Version 4.3
Latest signed off version: v4.0 (1 May 2024)

Component of the following Super Panels:

Sources

• Expert Review Green
• Expert list
• UKGTN

Phenotypes

• Greig cephalopolysyndactyly syndrome, OMIM:175700
• Pallister-Hall syndrome, OMIM:146510

Red GLI3 in Childhood onset dystonia, chorea or related movement disorder

Version 4.3
Latest signed off version: v4.0 (1 May 2024)

Sources

• PanelApp
• Expert Review Red
• London North GLH

Phenotypes

• Greig cephalopolysyndactyly syndrome, OMIM:175700
• Pallister-Hall syndrome, OMIM:146510

Green GLI3 in Severe Paediatric Disorders

Version 1.184

Sources

• Next Generation Children Project
• Expert Review Green
• Expert list

Phenotypes

• Pallister-Hall syndrome, 146510
• Greig cephalopolysyndactyly syndrome, 175700
• Polydactyly, preaxial, type IV, 174700
• Polydactyly, postaxial, types A1 and B, 174200