Level 3: Specific metabolic abnormalities
Level 2: Metabolic disorders
Version 1.615
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review
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X-LINKED: hemizygous mutation in males, biallelic mutations in females
|
Sources
- Expert Review Green
- Literature
Phenotypes
- Arts syndrome 301835
- Charcot-Marie-Tooth disease, X-linked recessive, 5 311070
- Deafness, X-linked 1 304500
- Gout, PRPS-related 300661
- Phosphoribosylpyrophosphate synthetase superactivity 300661
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Version 4.134
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
|
X-LINKED: hemizygous mutation in males, biallelic mutations in females
|
Sources
- Expert Review Green
- London North GLH
- NHS GMS
Phenotypes
- Arts syndrome 301835
- Charcot-Marie-Tooth disease, X-linked recessive, 5 311070
- Deafness, X-linked 1 304500
- Gout, PRPS-related 300661
- Phosphoribosylpyrophosphate synthetase superactivity 300661
|
Version 3.146
Latest signed off version: v3.0
(22 Mar 2023)
|
review
|
X-LINKED: hemizygous mutation in males, biallelic mutations in females
|
Sources
- Expert Review Red
- PAGE DD-Gene2Phenotype
Phenotypes
- PHOSPHORIBOSYLPYROPHOSPHATE SYNTHETASE SUPERACTIVITY
- ARTS SYNDROME
- CHARCOT-MARIE-TOOTH DISEASE X-LINKED RECESSIVE TYPE 5
- DEAFNESS X-LINKED TYPE 1
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Version 3.79
Latest signed off version: v3.1
(22 Mar 2023)
Component of the following Super Panels:
Paediatric disorders
|
review
|
X-LINKED: hemizygous mutation in males, biallelic mutations in females
|
Sources
- DD-Gene2Phenotype
- Expert Review Green
Phenotypes
- ARTS SYNDROME 301835
- PHOSPHORIBOSYLPYROPHOSPHATE SYNTHETASE SUPERACTIVITY 300661
- DEAFNESS X-LINKED TYPE 1 304500
- CHARCOT-MARIE-TOOTH DISEASE X-LINKED RECESSIVE TYPE 5 311070
|
Level 3: Motor and Sensory Disorders of the PNS
Level 2: Neurology and neurodevelopmental disorders
Version 1.476
|
review
|
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
|
Sources
- South West GLH
- NHS GMS
- London North GLH
- Expert Review Green
- Emory Genetics Laboratory
- UKGTN
- Expert list
- Illumina TruGenome Clinical Sequencing Services
- Radboud University Medical Center, Nijmegen
Phenotypes
- Charcot Marie Tooth disease, X linked recessive, 5, 311070
|
Level 3: Non-syndromic hearing loss
Level 2: Hearing and ear disorders
Version 4.26
Latest signed off version: v4.0
(22 Mar 2023)
Component of the following Super Panels:
Paediatric disorders
|
review
|
X-LINKED: hemizygous mutation in males, biallelic mutations in females
|
Sources
- Expert Review Green
- Expert
- Radboud University Medical Center, Nijmegen
- Emory Genetics Laboratory
- UKGTN
- Illumina TruGenome Clinical Sequencing Services
Phenotypes
- Nonsyndromic Hearing Loss, X-Linked
- Gout, PRPS-related, 300661
- hearing loss
- #300661:Phosphoribosylpyrophosphate synthetase superactivity
- #301835:Arts syndrome
- #304500:Deafness, X-linked 1
- #311070:Charcot-Marie-Tooth disease, X-linked recessive, 5
|
Level 3: Neurodevelopmental disorders
Level 2: Neurology and neurodevelopmental disorders
Version 5.506
Latest signed off version: v5.0
(22 Mar 2023)
Component of the following Super Panels:
Childhood onset leukodystrophy
Hypotonic infant
Paediatric disorders
|
review
|
X-LINKED: hemizygous mutation in males, biallelic mutations in females
|
Sources
- Victorian Clinical Genetics Services
- Expert Review Green
- Radboud University Medical Center, Nijmegen
- Emory Genetics Laboratory
Phenotypes
- Charcot-Marie-Tooth disease, X-linked recessive, 5, 311070
- Arts syndrome, 301835
- Deafness, X-linked 1, 304500
- CHARCOT-MARIE-TOOTH DISEASE X-LINKED RECESSIVE TYPE 5 (CMTX5)
- Gout, PRPS-related, 300661
- Phosphoribosylpyrophosphate synthetase superactivity, 300661
|
Version 4.30
Latest signed off version: v4.0
(22 Mar 2023)
|
review
|
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
|
Sources
- Expert Review Amber
- Literature
Phenotypes
- cerebellar ataxia, MONDO:0000437
|
Level 3: Posterior segment abnormalities
Level 2: Ophthalmological disorders
Version 4.81
Latest signed off version: v4.0
(22 Mar 2023)
|
review
|
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
|
Sources
- NHS GMS
- Expert Review Green
- Literature
Phenotypes
|
Version 3.83
Latest signed off version: v3.24
(15 May 2023)
|
review
|
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
|
Sources
- Radboud University Medical Center, Nijmegen
- South West GLH
- Expert Review Green
- UKGTN
- Emory Genetics Laboratory
- Expert list
- London North GLH
- Illumina TruGenome Clinical Sequencing Services
- NHS GMS
- South West GLH
- NHS GMS
- London North GLH
Phenotypes
- Charcot Marie Tooth disease, X linked recessive, 5, 311070
|
Version 3.74
Latest signed off version: v3.0
(22 Mar 2023)
|
review
|
Not set
|
Sources
- Expert Review Red
- London North GLH
|
Version 1.182
|
review
|
X-LINKED: hemizygous mutation in males, biallelic mutations in females
|
Sources
- Next Generation Children Project
- Expert Review Green
- Expert list
Phenotypes
- Charcot-Marie-Tooth disease, X-linked recessive, 5, 311070
- Deafness, X-linked 1, 304500
- Phosphoribosylpyrophosphate synthetase superactivity, 300661
- Gout, PRPS-related, 300661
- Arts syndrome, 301835
|