Level 3: Anterior segment abnormalities
Level 2: Ophthalmological disorders
Version 1.45
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review
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Not set
|
Sources
- NHS GMS
- Emory Genetics Laboratory
Phenotypes
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Version 4.63
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
- Polyneuropathy, Hearing Loss, Ataxia, Retinitis Pigmentosa and Cataract (PHARC)
- Polyneuropathy, hearing loss, ataxia, retinitis pigmentosa, and cataract
|
Level 3: Anterior segment abnormalities
Level 2: Ophthalmological disorders
Version 4.12
Latest signed off version: v4.0
(22 Mar 2023)
|
review
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
- Expert Review Green
- Radboud University Medical Center, Nijmegen
- Illumina TruGenome Clinical Sequencing Services
Phenotypes
- Polyneuropathy, hearing loss, ataxia, retinitis pigmentosa, and cataract, OMIM:612674
- PHARC syndrome, MONDO:0012984
|
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
- Radboud University Medical Center, Nijmegen
Phenotypes
- Polyneuropathy, hearing loss, ataxia, retinitis pigmentosa, and cataract
- Polyneuropathy, Hearing Loss, Ataxia, Retinitis Pigmentosa and Cataract (PHARC)
|
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
- Polyneuropathy, Hearing Loss, Ataxia, Retinitis Pigmentosa and Cataract (PHARC)
- Polyneuropathy, hearing loss, ataxia, retinitis pigmentosa, and cataract
|
Level 3: Specific metabolic abnormalities
Level 2: Metabolic disorders
Version 1.617
|
review
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
- Expert Review Green
- Literature
Phenotypes
- PHARC syndrome (Disorders of complex lipid synthesis)
- Congenital hearing impairment (profound/severe)
- Hereditary ataxia
- Posterior segment abnormalities
|
Version 4.137
Latest signed off version: v4.0
(22 Mar 2023)
Component of the following Super Panels:
Childhood onset leukodystrophy
Hypotonic infant
Paediatric disorders
Unexplained death in infancy and sudden unexplained death in childhood
|
review
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
- Expert Review Green
- London North GLH
- NHS GMS
Phenotypes
- Hereditary ataxia
- Posterior segment abnormalities
- Congenital hearing impairment (profound/severe)
- PHARC syndrome (Disorders of complex lipid synthesis)
|
Level 3: Motor and Sensory Disorders of the PNS
Level 2: Neurology and neurodevelopmental disorders
Version 1.477
|
review
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
- Expert Review Green
- NHS GMS
- London North GLH
Phenotypes
- Neurodegeneration, childhood-onset, with cerebellar atrophy,612674
- Onset 2nd decade, neuropathy with SNCV, sensory neuronal hearing loss, retinitis pigmentosa, spastic paraplegia, ataxia
|
Level 3: Non-syndromic hearing loss
Level 2: Hearing and ear disorders
Version 4.38
Latest signed off version: v4.0
(22 Mar 2023)
Component of the following Super Panels:
Paediatric disorders
|
review
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
- Expert Review Green
- Radboud University Medical Center, Nijmegen
- Illumina TruGenome Clinical Sequencing Services
- Emory Genetics Laboratory
Phenotypes
- hearing loss
- Polyneuropathy, hearing loss, ataxia, retinitis pigmentosa, and cataract, 612674
- Polyneuropathy, Hearing Loss, Ataxia, Retinitis Pigmentosa andCataract (PHARC)
- Hearing loss
- Polyneuropathy, Hearing Loss, Ataxia, Retinitis Pigmentosa and Cataract (PHARC)
- Polyneuropathy, hearing loss, ataxia, retinitis pigmentosa, and cataract, 612674
- #612674
- Hearing loss, sensorineural
- Subcapsular cataracts
- Retinitis pigmentosa
- Optic atrophy
- Nystagmus
- Pes cavus Achilles tendon contracture
- Distal muscle atrophy due to neurologic disease
- Ataxia Spasticity Extensor plantar responses
- Hyperreflexia Intention
- tremor
- Dysarthria Dysmetria Cerebellar atrophy
- Sensorimotor peripheral neuropathy
- Distal sensory loss
- Demyelinating neuropathy
- Hyporeflexia
- Decreased nerve conduction velocities
- Normal serum phytanic and pristanic acid
|
Level 3: Neurodevelopmental disorders
Level 2: Neurology and neurodevelopmental disorders
Version 5.532
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
- Expert Review Red
- BRIDGE study SPEED NEURO Tier1 Gene
Phenotypes
- Polyneuropathy, hearing loss, ataxia, retinitis pigmentosa, and cataract, 612674
|
Version 4.34
Latest signed off version: v4.0
(22 Mar 2023)
|
review
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
- London North GLH
- NHS GMS
- Wessex and West Midlands GLH
- Expert Review Green
- Hereditary ataxia v1.148
Phenotypes
- Polyneuropathy, hearing loss, ataxia, retinitis pigmentosa, and cataract
- Polyneuropathy, Hearing Loss, Ataxia, Retinitis Pigmentosa and Cataract (PHARC)
- Polyneuropathy, hearing loss, ataxia, retinitis pigmentosa and cataract, 612674
|
Level 3: Posterior segment abnormalities
Level 2: Ophthalmological disorders
Version 4.89
Latest signed off version: v4.0
(22 Mar 2023)
|
review
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
- NHS GMS
- Expert Review Green
Phenotypes
- Eye Disorders
- Polyneuropathy, Hearing Loss, Ataxia, Retinitis Pigmentosa andCataract (PHARC)
- Polyneuropathy, hearing loss, ataxia, retinitis pigmentosa, and cataract, 614857
|
Version 3.77
Latest signed off version: v3.0
(22 Mar 2023)
|
review
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
- NHS GMS
- Expert Review Red
Phenotypes
- Polyneuropathy, hearing loss, ataxia, retinitis pigmentosa, and cataract 612674
- Eye Disorders
|
Version 3.94
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
- Neurodegeneration, childhood-onset, with cerebellar atrophy,612674
- Onset 2nd decade, neuropathy with SNCV, sensory neuronal hearing loss, retinitis pigmentosa, spastic paraplegia, ataxia
|
Version 3.75
Latest signed off version: v3.0
(22 Mar 2023)
|
review
|
Not set
|
Sources
- Expert Review Red
- London North GLH
|
Version 1.184
|
review
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
- Next Generation Children Project
- Expert Review Green
- Expert list
Phenotypes
- Polyneuropathy, hearing loss, ataxia, retinitis pigmentosa, and cataract, 612674
|