Level 3: Sun-exposure related conditions
Level 2: Dermatological disorders
Version 1.2
|
review
|
Not set
|
Sources
- Expert Review Red
- Radboud University Medical Center, Nijmegen
Phenotypes
- Cockayne syndrome, type B, 133540Cerebrooculofacioskeletal syndrome 1, 214150De Sanctis-Cacchione syndrome, 278800{Macular degeneration, age-related, susceptibility to 5}, 613761UV-sensitive syndrome 1, 600630{Lung cancer, susceptibility to}, 211980
|
Level 3: Growth hormone disorders
Level 2: Endocrine disorders
Version 1.58
|
review
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
- Expert Review Green
- Emory Genetics Laboratory
Phenotypes
- Cockayne syndrome, type B, 133540
|
Level 3: DNA repair disorders
Level 2: Dysmorphic and congenital abnormality syndromes
Version 3.3
Latest signed off version: v3.0
(22 Mar 2023)
|
review
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
- Expert Review Green
- Other
- Illumina TruGenome Clinical Sequencing Services
- Eligibility statement prior genetic testing
- Radboud University Medical Center, Nijmegen
- UKGTN
Phenotypes
- Cockayne syndrome, type B
- Cockayne syndrome phenotype and UV-sensitive syndrome
- PMID: 26204423
- Cockayne syndrome B
- De Sanctis-Cacchione syndrome
- UV-sensitive syndrome 1
|
Level 3: Motor Disorders of the CNS
Level 2: Neurology and neurodevelopmental disorders
Version 1.147
|
review
|
Not set
|
Sources
- Emory Genetics Laboratory
Phenotypes
|
Version 3.31
Latest signed off version: v3.0
(22 Mar 2023)
Component of the following Super Panels:
Childhood onset leukodystrophy
|
review
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
Phenotypes
- De Sanctis-Cacchione syndrome
- PMID: 26204423
- Cockayne syndrome
- UV-sensitive syndrome
- Cockayne syndrome phenotype and UV-sensitive syndrome
- Cockayne syndrome B
- UV-sensitive syndrome 1
- Intercranial Calcifications
- Cockayne syndrome, type B
- General Leukodystrophy & Mitochondrial Leukoencephalopathy
|
Level 3: Anterior segment abnormalities
Level 2: Ophthalmological disorders
Version 4.8
Latest signed off version: v4.0
(22 Mar 2023)
|
review
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
- Expert Review Green
- UKGTN
Phenotypes
- Cockayne syndrome type B
- UV-sensitivesyndrome 1
- Cerebrooculofacioskeletalsyndrome 1
|
Level 3: Parenchymal brain disorders
Level 2: Neurology and neurodevelopmental disorders
Version 1.35
|
review
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
- Expert Review Red
- Emory Genetics Laboratory
Phenotypes
- Intercranial Calcifications
|
Level 3: White matter disorders
Level 2: Neurology and neurodevelopmental disorders
Version 1.179
|
review
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
- Expert Review Green
- Expert list
Phenotypes
- Cockayne syndrome
- UV-sensitive syndrome
- General Leukodystrophy & Mitochondrial Leukoencephalopathy
|
Level 3: Neuromuscular disorders
Level 2: Neurology and neurodevelopmental disorders
Version 5.22
Latest signed off version: v5.0
(22 Mar 2023)
|
review
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
- Expert Review Green
- Radboud University Medical Center, Nijmegen
- UKGTN
- Illumina TruGenome Clinical Sequencing Services
- Expert list
Phenotypes
- Cockayne syndrome, type B 133540
|
Level 3: DNA repair disorders
Level 2: Dysmorphic and congenital abnormality syndromes
Version 4.65
Latest signed off version: v4.0
(22 Mar 2023)
|
review
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
- NHS GMS
- Other
- Expert Review Green
Phenotypes
- Cockayne syndrome, type B, 133540 (Microcephaly)
|
Version 4.46
Latest signed off version: v4.34
(31 Jul 2023)
|
review
|
Unknown
|
Sources
- NHS GMS
- Yorkshire and North East GLH
- Expert Review Red
Phenotypes
|
Version 3.140
Latest signed off version: v3.0
(22 Mar 2023)
|
review
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
- PAGE DD-Gene2Phenotype
- Expert Review Green
Phenotypes
- UV-SENSITIVE SYNDROME
- CEREBRO-OCULO-FACIO-SKELETAL SYNDROME TYPE 1
- COCKAYNE SYNDROME TYPE B
- DE SANCTIS-CACCHIONE SYNDROME
|
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
- Proportionate Short Stature/Small for Gestational Age
Tags
|
Version 3.79
Latest signed off version: v3.1
(22 Mar 2023)
Component of the following Super Panels:
Paediatric disorders
|
review
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
- DD-Gene2Phenotype
- Expert Review Green
Phenotypes
- DE SANCTIS-CACCHIONE SYNDROME 278800
- UV-SENSITIVE SYNDROME 609413
- CEREBRO-OCULO-FACIO-SKELETAL SYNDROME TYPE 1 214150
- COCKAYNE SYNDROME TYPE B 133540
|
Level 3: Motor and Sensory Disorders of the PNS
Level 2: Neurology and neurodevelopmental disorders
Version 1.476
|
review
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
- Expert Review Green
- NHS GMS
- London North GLH
Phenotypes
- Cockayne syndrome, type B, 133540
- Cockayne syndrome, Dwarfism, optic atrophy, mental retardation, cutaneous photosensitivity, pigmentary retinopathy, deafness, neuropathy with slow conduction velocities
|
Level 3: Ocular malformations
Level 2: Ophthalmological disorders
Version 1.51
|
review
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
- Expert Review Red
- Radboud University Medical Center, Nijmegen
- UKGTN
- Illumina TruGenome Clinical Sequencing Services
Phenotypes
- Cerebrooculofacioskeletal Syndrome
- Cockayne syndrome, type B, 133540Cerebrooculofacioskeletal syndrome 1, 214150De Sanctis-Cacchione syndrome, 278800{Macular degeneration, age-related, susceptibility to 5}, 613761UV-sensitive syndrome 1, 600630{Lung cancer, susceptibility to}, 211980
|
Version 3.8
Latest signed off version: v3.0
(22 Mar 2023)
|
review
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
Phenotypes
- Cockayne syndrome, type B, 133540
|
Level 3: Neurodevelopmental disorders
Level 2: Neurology and neurodevelopmental disorders
Version 5.499
Latest signed off version: v5.0
(22 Mar 2023)
Component of the following Super Panels:
Childhood onset leukodystrophy
Hypotonic infant
Paediatric disorders
|
review
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
- Victorian Clinical Genetics Services
- Expert Review Green
- Radboud University Medical Center, Nijmegen
Phenotypes
- De Sanctis-Cacchione syndrome, OMIM:278800
|
Level 3: Posterior segment abnormalities
Level 2: Ophthalmological disorders
Version 4.81
Latest signed off version: v4.0
(22 Mar 2023)
|
review
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
- NHS GMS
- Expert Review Green
Phenotypes
- Cockayne syndrome, type B, OMIM:133540
|
Version 3.74
Latest signed off version: v3.0
(22 Mar 2023)
|
review
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
- NHS GMS
- Expert Review Red
Phenotypes
- Cerebrooculofacioskeletal Syndrome
- Cerebrooculofacioskeletal syndrome 1, 214150
- Cockayne syndrome, type B, 133540
- De Sanctis-Cacchione syndrome, 278800
- {Macular degeneration, age-related, susceptibility to 5}, 613761
- UV-sensitive syndrome 1, 600630
- {Lung cancer, susceptibility to}, 211980
|
Version 3.18
Latest signed off version: v3.12
(31 Jul 2023)
|
review
|
Not set
|
Sources
- NHS GMS
- South West GLH
- Expert Review Red
Phenotypes
|
Version 3.83
Latest signed off version: v3.24
(15 May 2023)
|
review
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
- Expert Review Amber
- London North GLH
- NHS GMS
- NHS GMS
- London North GLH
Phenotypes
- Cockayne syndrome, Dwarfism, optic atrophy, mental retardation, cutaneous photosensitivity, pigmentary retinopathy, deafness, neuropathy with slow conduction velocities
- Cockayne syndrome, type B, 133540
|
Version 3.74
Latest signed off version: v3.0
(22 Mar 2023)
|
review
|
Unknown
|
Sources
Phenotypes
|
Version 1.182
|
review
|
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
|
Sources
- Next Generation Children Project
- Expert Review Green
- Expert list
Phenotypes
- Cerebrooculofacioskeletal syndrome 1, 214150
- UV-sensitive syndrome 1, 600630
- De Sanctis-Cacchione syndrome, 278800
- Cockayne syndrome, type B, 133540
- Premature ovarian failure 11, 616946
|