|
Level 3: Urea Cycle disorders
Level 2: Metabolic disorders
Version 1.8
|
review
|
Not set
|
Sources
- Emory Genetics Laboratory
|
|
Level 3: Anterior segment abnormalities
Level 2: Ophthalmological disorders
Version 1.9
|
review
|
Not set
|
Sources
- Emory Genetics Laboratory
Phenotypes
|
|
Level 3: Neurodegenerative disorders
Level 2: Neurology and neurodevelopmental disorders
Version 1.68
|
review
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
- Expert Review Green
- Other
- Literature
Phenotypes
- 3-methylglutaconic aciduria, type III, 258501
- Costeff syndrome
|
|
Version 2.39
Signed off v.2.23
on 8 Oct 2020
Component of the following Super Panels:
Hereditary ataxia and cerebellar anomalies - childhood onset
|
review
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
Phenotypes
- Costeff syndrome
- 3-methylglutaconic aciduria, type III, 258501
|
|
Level 3: Anterior segment abnormalities
Level 2: Ophthalmological disorders
Version 2.58
Signed off v.2.2
on 19 Feb 2020
|
review
|
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
|
Sources
- Expert Review Green
- UKGTN
- Radboud University Medical Center, Nijmegen
Phenotypes
- 3-methylglutaconic aciduria, type III, 258501
- autosomal dominant optic atrophy with cataract (ADOAC)
|
|
Level 3: Motor Disorders of the CNS
Level 2: Neurology and neurodevelopmental disorders
Version 1.207
|
review
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
- Literature
- Expert Review Green
- Other
Phenotypes
- 3-methylglutaconic aciduria, type III, 258501
- Costeff syndrome
|
|
Level 3: Motor Disorders of the CNS
Level 2: Neurology and neurodevelopmental disorders
Version 1.219
|
review
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
- Expert Review Green
- Literature
- Other
Phenotypes
- 3-methylglutaconic aciduria, type III, 258501
- Costeff syndrome
|
|
Level 3: Posterior segment abnormalities
Level 2: Ophthalmological disorders
Version 2.29
Signed off v.2.2
on 19 Feb 2020
|
review
|
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
|
Sources
- London North GLH
- Expert Review Green
- Expert
- Radboud University Medical Center, Nijmegen
- Illumina TruGenome Clinical Sequencing Services
- Emory Genetics Laboratory
Phenotypes
- Autosomal Dominant Optic Atrophy
- optic atrophy and cataracts
- Optic atrophy 3 with cataract
|
|
Version 2.25
Signed off v.2.18
on 8 Oct 2020
|
review
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
- Yorkshire and North East GLH
- NHS GMS
- London North GLH
- Literature
- Expert Review Green
- Other
Phenotypes
- 3-methylglutaconic aciduria, type III, 258501
- Costeff syndrome
|
|
Version 1.16
Signed off v.1.12
on 15 Oct 2020
|
review
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
- Yorkshire and North East GLH
- Expert Review Green
- NHS GMS
- London North GLH
Phenotypes
- 3-methylglutaconic aciduria, type III, 258501
- Costeff syndrome, Optic atrophy 3 with cataract, 165300, AD
|
|
Version 2.38
Signed off v.2.31
on 8 Oct 2020
|
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
- Costeff syndrome
- 3-methylglutaconic aciduria, type III, 258501
|
|
Level 3: Specific metabolic abnormalities
Level 2: Metabolic disorders
Version 1.440
|
review
|
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
|
Sources
- Expert Review Green
- Literature
Phenotypes
- Methylglutaconic aciduria type III, Costeff syndrome (Organic acidurias)
- 3-methylglutaconic aciduria, type III, 258501Optic atrophy 3 with cataract, 165300
|
|
Version 2.50
Signed off v.2.3
on 17 Feb 2020
Component of the following Super Panels:
Hypotonic infant
Paediatric disorders
White matter disorders - childhood onset
|
review
|
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
|
Sources
- London North GLH
- NHS GMS
- Expert Review Green
Phenotypes
- Methylglutaconic aciduria type III, Costeff syndrome (Organic acidurias)
- 3-methylglutaconic aciduria, type III, 258501Optic atrophy 3 with cataract, 165300
|
|
Version 1.31
Signed off v.1.17
on 11 Nov 2020
|
review
|
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
|
Sources
- NHS GMS
- Expert Review Green
Phenotypes
- 3-methylglutaconic aciduria, type III, 258501
- Optic atrophy 3 with cataract, 165300
|
|
Level 3: Motor and Sensory Disorders of the PNS
Level 2: Neurology and neurodevelopmental disorders
Version 1.383
|
review
|
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
|
Sources
- Expert Review Green
- NHS GMS
- London North GLH
Phenotypes
- Optic atrophy 3 with cataract, 165300
- 3-methylglutaconic aciduria, type III, 258501
- Infantile optic atrophy, additionally, extra pyramidal disorder (chorea), ataxia, cognitive defects, axonal sensory neuropathy, autonomic neuropathy, pseudo-obstruction
|
|
Level 3: Neurodevelopmental disorders
Level 2: Neurology and neurodevelopmental disorders
Version 3.740
Signed off v.3.2
on 13 Feb 2020
Component of the following Super Panels:
Hypotonic infant
Paediatric disorders
White matter disorders - childhood onset
|
review
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
- Expert Review Green
- Expert Review Green
- Expert Review Amber
- BRIDGE study SPEED NEURO Tier1 Gene
Phenotypes
- 3-methylglutaconic aciduria, type III, 258501
- Costeff syndrome
- Cognitive regression
|
|
Level 3: Mitochondrial
Level 2: Metabolic disorders
Version 2.14
Signed off v.2.4
on 17 Feb 2020
Component of the following Super Panels:
White matter disorders - childhood onset
|
review
|
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
|
Sources
- Victorian Clinical Genetics Services
- Expert Review Green
- Radboud University Medical Center, Nijmegen
Phenotypes
- 3-methylglutaconic aciduria, type III, 258501Optic atrophy 3 with cataract, 165300
|
|
Version 2.20
Signed off v.2.13
on 6 Oct 2020
|
review
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
- London North GLH
- NHS GMS
- Wessex and West Midlands GLH
- Expert Review Green
- Hereditary ataxia v1.148
Phenotypes
- Optic atrophy 3 with cataract, 165300
- 3-methylglutaconic aciduria, type III, 258501
- 3-methylglutaconic aciduria type III, 258501
- Costeff syndrome
|
|
Level 3: Posterior segment abnormalities
Level 2: Ophthalmological disorders
Version 2.163
Signed off v.2.7
on 25 Feb 2020
|
review
|
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
|
Sources
- NHS GMS
- Expert Review Red
Phenotypes
- Autosomal Dominant Optic Atrophy
- Eye Disorders
|
|
Version 1.42
Signed off v.1.3
on 4 Mar 2020
|
review
|
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
|
Sources
- NHS GMS
- Expert Review Red
Phenotypes
- Optic atrophy 3 with cataract, 165300
- Eye Disorders
|
|
Version 1.16
Signed off v.1.14
on 15 Oct 2020
|
review
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
- Expert Review Red
- NHS GMS
- London North GLH
Phenotypes
- 3-methylglutaconic aciduria, type III, 258501
- Costeff syndrome
|
|
Version 1.21
Signed off v.1.2
on 27 Feb 2020
|
review
|
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
|
Sources
- Expert Review Amber
- London North GLH
- NHS GMS
- NHS GMS
- London North GLH
Phenotypes
- Infantile optic atrophy, additionally, extra pyramidal disorder (chorea), ataxia, cognitive defects, axonal sensory neuropathy, autonomic neuropathy, pseudo-obstruction
- Optic atrophy 3 with cataract, 165300
- 3-methylglutaconic aciduria, type III, 258501
|
|
Version 1.74
Signed off v.1.58
on 6 Oct 2020
|
review
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
- Expert Review Green
- London North GLH
Phenotypes
- 3-methylglutaconic aciduria, type III, 258501
|
|
Version 1.43
|
review
|
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
|
Sources
- Next Generation Children Project
- Expert Review Green
- Expert list
Phenotypes
- 3-methylglutaconic aciduria, type III, 258501
- Optic atrophy 3 with cataract, 165300
|