Level 3: Fetal disorders
Level 2: Dysmorphic and congenital abnormality syndromes
Version 1.64
|
review
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
Phenotypes
- Nonimmune hydrops fetalis
|
Version 19.202
Latest signed off version: v19.1
(22 Mar 2023)
|
review
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
Phenotypes
- congenital myasthenic syndrome (CMS) associated with congenital nephrosis and ocular malformations
- synaptic congenital myasthenic syndrome
- Congenital myasthenic syndrome
|
Level 3: Anterior segment abnormalities
Level 2: Ophthalmological disorders
Version 1.13
|
review
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
- Expert Review Red
- GDL Corneal Abnormalities panel
Phenotypes
|
Level 3: Disorders of function
Level 2: Renal and urinary tract disorders
Version 1.118
Component of the following Super Panels:
Renal superpanel - broad
|
review
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
- Expert Review Green
- UKGTN
- Illumina TruGenome Clinical Sequencing Services
- Radboud University Medical Center, Nijmegen
- Eligibility statement prior genetic testing
Phenotypes
- Nephrotic syndrome, type 5, with or without ocular abnormalities 614199
- Pierson syndrome 609049
|
Level 3: Neuromuscular disorders
Level 2: Neurology and neurodevelopmental disorders
Version 4.5
Latest signed off version: v4.0
(22 Mar 2023)
Component of the following Super Panels:
Hypotonic infant
Other rare neuromuscular disorders
|
review
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
- NHS GMS
- Wessex and West Midlands GLH
- Literature
Phenotypes
- Congenital myasthenic syndrome
- congenital myasthenic syndrome (CMS) associated with congenital nephrosis and ocular malformations
- synaptic congenital myasthenic syndrome
|
Version 3.40
Latest signed off version: v3.0
(22 Mar 2023)
Component of the following Super Panels:
Renal superpanel - broad
|
review
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
Phenotypes
- Pierson syndrome 609049
- Nephrotic syndrome, type 5, with or without ocular abnormalities 614199
|
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 Amber
- Expert list
Phenotypes
- Pierson syndrome, MIM#609049
|
Version 3.77
Latest signed off version: v3.0
(22 Mar 2023)
|
review
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
- Expert Review Green
- NHS GMS
Phenotypes
- Nephrotic syndrome, type 5, with or without ocular abnormalities, 614199
- Pierson syndrome, 609049
|
Level 3: Syndromes with prominent renal abnormalities
Level 2: Renal and urinary tract disorders
Version 4.12
Latest signed off version: v4.0
(22 Mar 2023)
Component of the following Super Panels:
Renal superpanel - broad
Renal superpanel - narrow
|
review
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
- NHS GMS
- Expert Review Green
- Eligibility statement prior genetic testing
Phenotypes
- Nephrotic syndrome, type 5, with or without ocular abnormalities #614199
- Pierson syndrome #609049
|
Version 1.184
|
review
|
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
|
Sources
- Next Generation Children Project
- Expert Review Green
- Expert list
Phenotypes
- Nephrotic syndrome, type 5, with or without ocular abnormalities, 614199
- Pierson syndrome, 609049
|