Level 3: Growth hormone disorders
Level 2: Endocrine disorders
Version 1.59
|
review
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
- Expert Review Green
- Literature
- Literature
Phenotypes
- Oliver-Mcfarlane syndrome, Trichomegaly, GH deficiency, retinal dystrophy, hypogonadotrophic hypogonadism
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Version 4.59
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
- Spinocerebellar ataxia, hypogonadotropic hypogonadism and chorioretinal dystrophy (Boucher-Neuhauser syndrome, #215470)
- Oliver-McFarlane syndrome (#603197)
- Autosomal recessive spastic paraplegia 39 (#612020), ataxia seen in some patients
|
Version 3.11
Latest signed off version: v3.0
(22 Mar 2023)
|
review
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
- Expert Review Green
- Illumina TruGenome Clinical Sequencing Services
- Radboud University Medical Center
Phenotypes
- Boucher-Neuhauser syndrome (215470)
- Oliver-McFarlane syndrome (275400)
- Spastic paraplegia 39, autosomal recessive (612020)
|
Version 4.18
Latest signed off version: v4.0
(22 Mar 2023)
Component of the following Super Panels:
Paediatric disorders
|
review
|
Unknown
|
Sources
- Expert Review Red
- Victorian Clinical Genetics Services
Phenotypes
|
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
- Expert Review
Phenotypes
- Autosomal recessive spastic paraplegia 39 (#612020), ataxia seen in some patients
- Spinocerebellar ataxia, hypogonadotropic hypogonadism and chorioretinal dystrophy (Boucher-Neuhauser syndrome, #215470)
- Oliver-McFarlane syndrome (#603197)
|
Level 3: Motor Disorders of the CNS
Level 2: Neurology and neurodevelopmental disorders
Version 1.311
|
review
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
- Expert Review Green
- Expert list
- Radboud University Medical Center, Nijmegen
- Illumina TruGenome Clinical Sequencing Services
Phenotypes
- Spastic paraplegia 39, autosomal recessive
|
Version 4.42
Latest signed off version: v4.0
(22 Mar 2023)
|
review
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
- Yorkshire and North East GLH
- NHS GMS
- London North GLH
- Illumina TruGenome Clinical Sequencing Services
- Expert Review Green
- Expert list
- Radboud University Medical Center, Nijmegen
Phenotypes
- Spastic paraplegia 39, autosomal recessive, 612020
|
Version 3.21
Latest signed off version: v3.14
(31 Jul 2023)
|
review
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
- Yorkshire and North East GLH
- Expert Review Green
- NHS GMS
- London North GLH
Phenotypes
- Spastic paraplegia 39, autosomal recessive, 612020
|
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
- Spinocerebellar ataxia, hypogonadotropic hypogonadism and chorioretinal dystrophy (Boucher-Neuhauser syndrome, #215470)
- Spastic paraplegia 39, autosomal recessive
- Oliver-McFarlane syndrome (#603197)
- Autosomal recessive spastic paraplegia 39 (#612020), ataxia seen in some patients
|
Version 3.87
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
|
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 Amber
- London North GLH
- NHS GMS
- South West GLH
- Emory Genetics Laboratory
Phenotypes
- Hereditary Neuropathies
- Childhood onset of slowly progressive spastic paraplegia
- progressive distal motor neuropathy beginning in early through late adolescence
|
Version 3.88
Latest signed off version: v3.0
(22 Mar 2023)
|
review
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
Phenotypes
- Oliver-Mcfarlane syndrome, Trichomegaly, GH deficiency, retinal dystrophy, hypogonadotrophic hypogonadism
|
Level 3: Neurodevelopmental disorders
Level 2: Neurology and neurodevelopmental disorders
Version 5.531
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
- Expert Review Green
- BRIDGE study SPEED NEURO Tier1 Gene
Phenotypes
- Boucher-Neuhauser syndrome, 215470
- Oliver-McFarlane syndrome, 275400
- Trichomegaly-retina pigmentary degeneration-dwarfism syndrome
|
Version 4.31
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
- Sapstic paraplegia 39, 612020
- Oliver-McFarlane syndrome, 275400
- Boucher-Neuhauser syndrome, 215470
- Oliver-McFarlane syndrome (#603197)
- Spinocerebellar ataxia, hypogonadotropic hypogonadism and chorioretinal dystrophy (Boucher-Neuhauser syndrome, #215470)
- Autosomal recessive spastic paraplegia 39 (#612020), ataxia seen in some patients
|
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
- Expert Review Green
- NHS GMS
- RetNet
Phenotypes
- Boucher-Neuhauser syndrome, OMIM:215470
- Oliver-McFarlane syndrome, OMIM:275400
- ?Laurence-Moon syndrome, OMIM:245800
|
Version 3.92
Latest signed off version: v3.24
(15 May 2023)
|
review
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
- Expert Review Amber
- NHS GMS
- London North GLH
- South West GLH
- Emory Genetics Laboratory
- London North GLH
- NHS GMS
- South West GLH
Phenotypes
- Hereditary Neuropathies
- Childhood onset of slowly progressive spastic paraplegia
- progressive distal motor neuropathy beginning in early through late adolescence
|
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
- ?Laurence-Moon syndrome, 245800
- Spastic paraplegia 39, autosomal recessive, 612020
- Boucher-Neuhauser syndrome, 215470
- Oliver-McFarlane syndrome, 275400
|