Level 3: Anterior segment abnormalities
Level 2: Ophthalmological disorders
Version 1.45
|
review
|
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
|
Sources
- Expert Review Green
- NHS GMS
- Eligibility statement prior genetic testing
- Emory Genetics Laboratory
Phenotypes
|
Version 4.64
Latest signed off version: v4.0
(22 Mar 2023)
Component of the following Super Panels:
Hereditary ataxia and cerebellar anomalies - childhood onset
|
review
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
Phenotypes
- Aniridia, Cerebellar Ataxia, And Mental Retardation
|
Level 3: Childhood Tumours
Level 2: Tumour syndromes
Version 4.18
Latest signed off version: v4.0
(22 Mar 2023)
|
review
|
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
|
Sources
- Expert Review Red
- UKGTN
- Emory Genetics Laboratory
- Illumina TruGenome Clinical Sequencing Services
- Radboud University Medical Center, Nijmegen
Phenotypes
- ?Morning glory disc anomaly, 120430
- Aniridia, 106210
- Cataract with late-onset corneal dystrohpy, 106210
- Coloboma of optic nerve, 120430
- Coloboma, ocular, 120200
- Foveal hypoplasia 1, 136520
- Gillespie syndrome, 206700
- Keratitis, 148190
- Optic nerve hypoplasia, 165550
- Peters anomaly, 604229
- Wagner Syndrome
- Aniridia
- PAX6-related Disorders
- Wilms Tumor, Aniridia, Genitourinary Anomalies, And Mental Retardation Syndrome
|
Version 3.12
Latest signed off version: v3.0
(22 Mar 2023)
|
review
|
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
|
Sources
- Expert Review Red
- Illumina TruGenome Clinical Sequencing Services
- Radboud University Medical Center
Phenotypes
|
Level 3: Anterior segment abnormalities
Level 2: Ophthalmological disorders
Version 4.12
Latest signed off version: v4.0
(22 Mar 2023)
|
review
|
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
|
Sources
- Expert Review Green
- UKGTN
- Illumina TruGenome Clinical Sequencing Services
- Emory Genetics Laboratory
- Radboud University Medical Center, Nijmegen
Phenotypes
- ?Morning glory disc anomaly, 120430
- Aniridia, 106210
- Cataract with late-onset corneal dystrohpy, 106210
- Coloboma of optic nerve, 120430
- Coloboma, ocular, 120200
- Foveal hypoplasia 1, 136520
- Gillespie syndrome, 206700
- Keratitis, 148190
- Optic nerve hypoplasia, 165550
- Peters anomaly, 604229
- Aniridia, additional ocular abnormalities that may occur later in life include glaucoma, cataract, and corneal opacification and vascularization
- Optic Nerve Malformations
- Foveal Hypoplasia and Presenile Cataract Syndrome
|
Level 3: Disorders of unusual phenotypes
Level 2: Endocrine disorders
Version 1.67
|
review
|
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
|
Sources
- NHS GMS
- Expert Review Green
- Expert Review Green
- NHS GMS
Phenotypes
- Aniridia, 106210
- diabetes
|
Level 3: Motor Disorders of the CNS
Level 2: Neurology and neurodevelopmental disorders
Version 1.332
|
review
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
- Expert Review Green
- Illumina TruGenome Clinical Sequencing Services
Phenotypes
- Aniridia, Cerebellar Ataxia, And Mental Retardation
|
Version 3.5
Latest signed off version: v3.0
(22 Mar 2023)
|
review
|
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
|
Sources
- Expert Review Green
- Expert list
Phenotypes
- ?Coloboma of optic nerve 120430 AD
- Optic nerve hypoplasia 165550 AD
- Aniridia 106210 AD
- Cataract with late-onset corneal dystrophy 106210 AD
- ?Morning glory disc anomaly 120430 AD
- Anterior segment dysgenesis 5, multiple subtypes 604229
- Keratitis 148190 AD
- Foveal hypoplasia 1 136520 AD
- ?Coloboma, ocular 120200 AD
|
Version 3.5
Latest signed off version: v3.2
(22 Mar 2023)
|
review
|
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
|
Sources
- Wessex and West Midlands GLH
- Expert Review Green
- Illumina TruGenome Clinical Sequencing Services
- Radboud University Medical Center, Nijmegen
- UKGTN
Phenotypes
|
Level 3: Anterior segment abnormalities
Level 2: Ophthalmological disorders
Version 1.13
|
review
|
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
|
Sources
- Expert Review Red
- Emory Genetics Laboratory
- Radboud University Medical Center, Nijmegen
Phenotypes
- ?Morning glory disc anomaly 120430
- Aniridia 106210
- Cataract with late-onset corneal dystrohpy 106210
- Coloboma of optic nerve 120430
- Coloboma ocular 120200
- Foveal hypoplasia 1 136520
- Gillespie syndrome 206700
- Keratitis 148190
- Optic nerve hypoplasia 165550
- Peters anomaly 604229
- Anterior segment dysgenesis 5, multiple subtypes 604229
|
Level 3: Ocular malformations
Level 2: Ophthalmological disorders
Version 1.47
|
review
|
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
|
Sources
- Expert Review Green
- Radboud University Medical Center, Nijmegen
- Literature
Phenotypes
- ?Morning glory disc anomaly, 120430Aniridia, 106210Cataract with late-onset corneal dystrohpy, 106210Coloboma of optic nerve, 120430Coloboma, ocular, 120200Foveal hypoplasia 1, 136520Gillespie syndrome, 206700Keratitis, 148190Optic nerve hypoplasia, 165550Peters anomaly, 604229
|
Version 2.57
Latest signed off version: v2.2
(25 Feb 2020)
|
review
|
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
|
Sources
- Expert Review Green
- NHS GMS
Phenotypes
- diabetes mellitus (disease), MONDO:0005015
|
Level 3: Gonadal and sex development disorders
Level 2: Endocrine disorders
Version 4.4
Latest signed off version: v4.0
(22 Mar 2023)
|
review
|
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
|
Sources
- Expert Review Red
- Illumina TruGenome Clinical Sequencing Services
- Emory Genetics Laboratory
- UKGTN
Phenotypes
- Not relevant to this panel
|
Version 4.47
Latest signed off version: v4.34
(31 Jul 2023)
|
review
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
- Expert Review Red
- Wessex and West Midlands GLH
- Yorkshire and North East GLH
- NHS GMS
- London North GLH
Phenotypes
- Aniridia, Cerebellar Ataxia, And Mental Retardation
|
Version 3.157
Latest signed off version: v3.0
(22 Mar 2023)
|
review
|
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
|
Sources
- Expert Review Green
- PAGE DD-Gene2Phenotype
Phenotypes
- COLOBOMA OF OPTIC NERVE
- ANIRIDIA
- BILATERAL OPTIC NERVE HYPOPLASIA
- ANIRIDIA CEREBELLAR ATAXIA AND MENTAL DEFICIENCY
- KERATITIS HEREDITARY
- PETERS ANOMALY
- FOVEAL HYPOPLASIA
|
Version 3.87
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
- COLOBOMA OF OPTIC NERVE 120430
- ANIRIDIA 106210
- FOVEAL HYPOPLASIA 136520
- BILATERAL OPTIC NERVE HYPOPLASIA 165550
- KERATITIS HEREDITARY 148190
- PETERS ANOMALY 604229
- ANIRIDIA CEREBELLAR ATAXIA AND MENTAL DEFICIENCY 206700
|
Level 3: Ocular malformations
Level 2: Ophthalmological disorders
Version 1.51
|
review
|
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
|
Sources
- Expert Review Green
- Emory Genetics Laboratory
- Illumina TruGenome Clinical Sequencing Services
Phenotypes
|
Level 3: Neurodevelopmental disorders
Level 2: Neurology and neurodevelopmental disorders
Version 5.536
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
- NHS GMS
- Expert Review Red
- Victorian Clinical Genetics Services
- Radboud University Medical Center, Nijmegen
- Illumina TruGenome Clinical Sequencing Services
- UKGTN
Phenotypes
- Aniridia, Cerebellar Ataxia, And Mental Retardation
- Aniridia, 106210Peters anomaly, 604229Cataract with late-onset corneal dystrophy, 106210Keratitis, 148190Foveal hyperplasia, 136520Morning glory disc anomaly, 120430Optic nerve hypoplasia, 165550Coloboma, ocular, 120200Coloboma of optic nerve, 120430Gillespie syndrome, 206700
- KERATITIS HEREDITARY (KERH)
|
Version 4.34
Latest signed off version: v4.0
(22 Mar 2023)
|
review
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
- Expert Review Red
- NHS GMS
- Wessex and West Midlands GLH
- Hereditary ataxia v1.148
Phenotypes
- Aniridia, 106210
- Aniridia, Cerebellar Ataxia, And Mental Retardation
|
Level 3: Posterior segment abnormalities
Level 2: Ophthalmological disorders
Version 4.89
Latest signed off version: v4.0
(22 Mar 2023)
|
review
|
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
|
Sources
- NHS GMS
- Eligibility statement prior genetic testing
- Expert Review Red
Phenotypes
- Foveal Hypoplasia and Presenile Cataract Syndrome
- Developmental macular and foveal dystrophy (foveal hypoplasia in the context of aniridia)
|
Version 3.77
Latest signed off version: v3.0
(22 Mar 2023)
|
review
|
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
|
Sources
- NHS GMS
- Expert Review Green
Phenotypes
- Coloboma of optic nerve, 120430
- Peters anomaly, 604229
- Coloboma, ocular, 120200
- Optic nerve hypoplasia, 165550
- Aniridia 106210
- Foveal hypoplasia 1, 136520
- ?Morning glory disc anomaly, 120430
- Keratitis, 148190
- Anophthalmia
- Cataract with late-onset corneal dystrohpy, 106210
- Gillespie syndrome, 206700
|
Version 3.77
Latest signed off version: v3.0
(22 Mar 2023)
|
review
|
Not set
|
Sources
- Expert Review Red
- London North GLH
|
Version 1.184
|
review
|
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
|
Sources
- Next Generation Children Project
- Expert Review Green
- Expert list
Phenotypes
- Anterior segment dysgenesis 5, multiple subtypes, 604229
- Keratitis, 148190
- Cataract with late-onset corneal dystrophy, 106210
- ?Coloboma, ocular, 120200
- Optic nerve hypoplasia, 165550
- ?Coloboma of optic nerve, 120430
- Foveal hypoplasia 1, 136520
- Aniridia, 106210
- ?Morning glory disc anomaly, 120430
|