Version 4.19
Latest signed off version: v4.0
(22 Mar 2023)
Component of the following Super Panels:
Paediatric disorders
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review
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BIALLELIC, autosomal or pseudoautosomal
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Sources
- Expert Review Green
- Literature
Phenotypes
- microcephaly, developmental delay and bilateral toe syndactyly
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Level 3: Neuromuscular disorders
Level 2: Neurology and neurodevelopmental disorders
Version 5.22
Latest signed off version: v5.0
(22 Mar 2023)
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review
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BIALLELIC, autosomal or pseudoautosomal
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Sources
- Expert Review Red
- Literature
Phenotypes
- Multinucleated neurons, anhydramnios, renal dysplasia, cerebellar hypoplasia and hydranencephaly, 236500
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Level 3: DNA repair disorders
Level 2: Dysmorphic and congenital abnormality syndromes
Version 4.68
Latest signed off version: v4.0
(22 Mar 2023)
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review
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BIALLELIC, autosomal or pseudoautosomal
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Sources
- Expert Review Green
- Literature
Phenotypes
- microcephaly, speech delays, and bilateral toe syndactyly
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Level 3: Respiratory ciliopathies
Level 2: Ciliopathies
Version 1.42
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review
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BIALLELIC, autosomal or pseudoautosomal
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Sources
Phenotypes
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Level 3: Structural renal and urinary tract disease
Level 2: Renal and urinary tract disorders
Version 1.176
Component of the following Super Panels:
Renal superpanel - broad
Renal superpanel - narrow
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review
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BIALLELIC, autosomal or pseudoautosomal
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Sources
- Expert Review Green
- Expert list
Phenotypes
- Multinucleated neurons, anhydramnios, renal dysplasia, cerebellar hypoplasia, and hydranencephaly, 236500
- MARCH syndrome
- Meckel-like syndrome
- lethal CEP55-related syndromes
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Version 3.157
Latest signed off version: v3.0
(22 Mar 2023)
|
review
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BIALLELIC, autosomal or pseudoautosomal
|
Sources
- Expert Review Green
- Other
Phenotypes
- Multinucleated neurons, anhydramnios, renal dysplasia, cerebellar hypoplasia, and hydranencephaly, 236500
- lethal CEP55-related syndromes
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Level 3: Neurodevelopmental disorders
Level 2: Neurology and neurodevelopmental disorders
Version 5.536
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 Green
- Literature
Phenotypes
- microcephaly, delayed development, and bilateral toe syndactyly
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Level 3: Congenital malformations caused by ciliopathies
Level 2: Ciliopathies
Version 3.5
Latest signed off version: v3.0
(22 Mar 2023)
Component of the following Super Panels:
Cystic renal disease
Paediatric disorders
Rare multisystem ciliopathy Super panel
Renal superpanel - broad
Renal superpanel - narrow
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review
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BIALLELIC, autosomal or pseudoautosomal
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Sources
- Expert Review Amber
- Literature
Phenotypes
- Meckel-like syndrome
- autosomal recessive lethal ciliopathy
- renal dysplasia
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