Level 3: Growth hormone disorders
Level 2: Endocrine disorders
Version 1.58
|
review
|
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
|
Sources
- Expert Review Green
- Literature
Phenotypes
|
Level 3: Limb disorders
Level 2: Dysmorphic and congenital abnormality syndromes
Version 1.34
|
review
|
Not set
|
Sources
- Emory Genetics Laboratory
|
Version 4.4
Latest signed off version: v4.0
(22 Mar 2023)
|
review
|
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
|
Sources
- NHS GMS
- Expert Review Green
- Literature
Phenotypes
- Greig cephalopolysyndactyly syndrome, OMIM:175700
|
Version 3.11
Latest signed off version: v3.0
(22 Mar 2023)
|
review
|
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
|
Sources
- Expert Review Green
- Illumina TruGenome Clinical Sequencing Services
- Radboud University Medical Center
- Emory Genetics Laboratory
Phenotypes
- Greig cephalopolysyndactyly syndrome (175700)
- Pallister-Hall syndrome (146510)
|
Version 4.18
Latest signed off version: v4.0
(22 Mar 2023)
Component of the following Super Panels:
Paediatric disorders
|
review
|
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
|
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 175700
- Pallister-Hall syndrome 146510
- Polydactyly, postaxial, types A1 and B 174200
- Polydactyly, preaxial, type IV 174700
- {Hypothalamic hamartomas, somatic} 241800
- Polydactyly
|
Level 3: Disorders of function
Level 2: Renal and urinary tract disorders
Version 1.118
Component of the following Super Panels:
Renal superpanel - broad
|
review
|
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
|
Sources
- Expert Review Green
- Illumina TruGenome Clinical Sequencing Services
- UKGTN
- Radboud University Medical Center, Nijmegen
- Expert list
Phenotypes
- Pallister-Hall syndrome 146510
|
Level 3: Skeletal dysplasias
Level 2: Skeletal disorders
Version 4.54
Latest signed off version: v4.0
(22 Mar 2023)
Component of the following Super Panels:
Paediatric disorders
|
review
|
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
|
Sources
- NHS GMS
- Expert Review Green
- UKGTN
- Expert list
- Illumina TruGenome Clinical Sequencing Services
- Emory Genetics Laboratory
- Radboud University Medical Center, Nijmegen
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
|
Level 3: Structural renal and urinary tract disease
Level 2: Renal and urinary tract disorders
Version 1.175
Component of the following Super Panels:
Renal superpanel - broad
Renal superpanel - narrow
|
review
|
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
|
Sources
- Expert Review Green
- Expert list
Phenotypes
|
Version 3.39
Latest signed off version: v3.0
(22 Mar 2023)
Component of the following Super Panels:
Renal superpanel - broad
|
review
|
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
|
Sources
- Expert Review Green
- Expert Review Green
Phenotypes
- Pallister-Hall syndrome
- Pallister-Hall syndrome 146510
|
Level 3: Gastrointestinal disorders
Level 2: Gastroenterological disorders
Version 1.9
|
review
|
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
|
Sources
- Expert Review Green
- Expert list
Phenotypes
- anorectal malformation
- Pallister-Hall syndrome 146510
|
Version 3.146
Latest signed off version: v3.0
(22 Mar 2023)
|
review
|
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
|
Sources
- PAGE DD-Gene2Phenotype
- Expert Review Green
Phenotypes
- PALLISTER-HALL SYNDROME
- GREIG CEPHALOPOLYSYNDACTYLY SYNDROME
- PREAXIAL POLYDACTYLY TYPE IV
- POSTAXIAL POLYDACTYLY TYPE A
|
Level 3: Craniosynostosis syndromes
Level 2: Skeletal disorders
Version 4.179
Latest signed off version: v4.0
(22 Mar 2023)
|
review
|
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
|
Sources
- NHS GMS
- Expert Review Green
- Expert list
Phenotypes
- Greig cephalopolysyndactyly syndrome 175700
- 175700
|
Level 3: Skeletal dysplasias
Level 2: Skeletal disorders
Version 4.4
Latest signed off version: v4.0
(22 Mar 2023)
|
review
|
Not set
|
Sources
- Expert Review Removed
- Emory Genetics Laboratory
Phenotypes
- Disproportionate Short Stature
Tags
|
Version 3.79
Latest signed off version: v3.1
(22 Mar 2023)
Component of the following Super Panels:
Paediatric disorders
|
review
|
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
|
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
|
Level 3: Non-syndromic hearing loss
Level 2: Hearing and ear disorders
Version 4.26
Latest signed off version: v4.0
(22 Mar 2023)
Component of the following Super Panels:
Paediatric disorders
|
review
|
Not set
|
Sources
|
Level 3: Dysmorphic disorders
Level 2: Dysmorphic and congenital abnormality syndromes
Version 4.108
Latest signed off version: v4.0
(22 Mar 2023)
Component of the following Super Panels:
Paediatric disorders
|
review
|
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
|
Sources
- Expert list
- Illumina TruGenome Clinical Sequencing Services
- Radboud University Medical Center, Nijmegen
- UKGTN
Phenotypes
- Pallister-Hall syndrome, 146510
|
Version 3.87
Latest signed off version: v3.0
(22 Mar 2023)
|
review
|
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
|
Sources
Phenotypes
|
Level 3: Inherited Epilepsy Syndromes
Level 2: Neurology and neurodevelopmental disorders
Version 4.183
Latest signed off version: v4.0
(22 Mar 2023)
Component of the following Super Panels:
Unexplained death in infancy and sudden unexplained death in childhood
|
review
|
Not set
|
Sources
- Wessex and West Midlands GLH
- NHS GMS
- Expert Review Amber
- Victorian Clinical Genetics Services
|
Level 3: Neurodevelopmental disorders
Level 2: Neurology and neurodevelopmental disorders
Version 5.506
Latest signed off version: v5.0
(22 Mar 2023)
Component of the following Super Panels:
Childhood onset leukodystrophy
Hypotonic infant
Paediatric disorders
|
review
|
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
|
Sources
- Victorian Clinical Genetics Services
- Expert Review Green
- Radboud University Medical Center, Nijmegen
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
|
Version 4.30
Latest signed off version: v4.0
(22 Mar 2023)
|
review
|
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
|
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
|
Level 3: Congenital malformations caused by ciliopathies
Level 2: Ciliopathies
Version 1.169
|
review
|
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
|
Sources
- Expert Review Green
- UKGTN
- Expert list
Phenotypes
- Joubert Syndrome and Senior-Loken Syndrome 24 gene panel
|
Version 3.5
Latest signed off version: v3.0
(22 Mar 2023)
Component of the following Super Panels:
Paediatric disorders
Rare multisystem ciliopathy Super panel
|
review
|
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
|
Sources
- Expert Review Green
- Expert list
- UKGTN
Phenotypes
- Joubert Syndrome and Senior-Loken Syndrome 24 gene panel
|
Level 3: Congenital malformations caused by ciliopathies
Level 2: Ciliopathies
Version 3.18
Latest signed off version: v3.0
(22 Mar 2023)
Component of the following Super Panels:
Hereditary ataxia and cerebellar anomalies - childhood onset
Paediatric disorders
Rare multisystem ciliopathy Super panel
|
review
|
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
|
Sources
Phenotypes
- Joubert Syndrome and Senior-Loken Syndrome 24 gene panel
|
Level 3: Congenital malformations caused by ciliopathies
Level 2: Ciliopathies
Version 3.21
Latest signed off version: v3.1
(22 Mar 2023)
Component of the following Super Panels:
Paediatric disorders
Rare multisystem ciliopathy Super panel
|
review
|
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
|
Sources
- Expert Review Green
- Expert list
- UKGTN
Phenotypes
- Joubert Syndrome and Senior-Loken Syndrome 24 gene panel
|
Version 3.74
Latest signed off version: v3.0
(22 Mar 2023)
|
review
|
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
|
Sources
- PanelApp
- Expert Review Red
- London North GLH
Phenotypes
- Joubert Syndrome and Senior-Loken Syndrome 24 gene panel
|
Version 1.182
|
review
|
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
|
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
|