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Level 3: Disorders of unusual phenotypes
Level 2: Endocrine disorders
Version 4.6
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 Amber
- Literature
Phenotypes
- Asphyxiating thoracic dystrophy (ATD) syndrome and infantile‐onset diabetes
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Level 3: Skeletal dysplasias
Level 2: Skeletal disorders
Version 5.3
Latest signed off version: v5.0
(1 May 2024)
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 Amber
- Literature
Phenotypes
- Asphyxiating thoracic dystrophy (ATD) syndrome and infantile‐onset diabetes
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Version 4.3
Latest signed off version: v4.0
(1 May 2024)
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 Red
- DD-Gene2Phenotype
Phenotypes
- PDIA6-associated syndromic neonatal diabetes and asphyxiating thoracic dystrophy
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Level 3: Congenital malformations caused by ciliopathies
Level 2: Ciliopathies
Version 3.6
Latest signed off version: v3.5
(1 May 2024)
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
- Asphyxiating thoracic dystrophy (ATD) syndrome and infantile‐onset diabetes
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Level 3: Congenital malformations caused by ciliopathies
Level 2: Ciliopathies
Version 4.3
Latest signed off version: v4.0
(1 May 2024)
Component of the following Super Panels:
Paediatric disorders
Rare multisystem ciliopathy Super panel
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review
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BIALLELIC, autosomal or pseudoautosomal
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Sources
- Expert Review Amber
- Literature
Phenotypes
- Asphyxiating thoracic dystrophy (ATD) syndrome and infantile‐onset diabetes
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