Level 3: Specific metabolic abnormalities
Level 2: Metabolic disorders
Version 1.542
|
review
|
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
|
Version 2.263
Latest signed off version: v2.3
(17 Feb 2020)
Component of the following Super Panels:
Hypotonic infant
Paediatric disorders
White matter disorders - childhood onset
|
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 1.900
Latest signed off version: v1.92
(21 Aug 2020)
|
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
|
Version 2.76
Latest signed off version: v2.2
(13 Feb 2020)
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 1.454
|
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 2.247
Latest signed off version: v2.5
(13 Feb 2020)
|
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 3.1659
Latest signed off version: v3.2
(13 Feb 2020)
Component of the following Super Panels:
Hypotonic infant
Paediatric disorders
White matter disorders - childhood onset
|
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 2.158
Latest signed off version: v2.13
(6 Oct 2020)
|
review
|
X-LINKED: hemizygous mutation in males, biallelic mutations in females
|
Sources
Phenotypes
- Ataxia
- deafness
- eye disease
|
Level 3: Posterior segment abnormalities
Level 2: Ophthalmological disorders
Version 2.285
Latest signed off version: v2.195
(5 Aug 2021)
|
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 1.103
Latest signed off version: v1.36
(5 Aug 2021)
|
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 1.241
Latest signed off version: v1.137
(5 Aug 2021)
|
review
|
Not set
|
Sources
- Expert Review Red
- London North GLH
|
Version 1.127
|
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
|