Version 4.1
Latest signed off version: v4.0
(1 May 2024)
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review
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BIALLELIC, autosomal or pseudoautosomal
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Sources
- Expert Review Green
- NHS GMS
- Literature
Phenotypes
- Cardiac valvular defect, developmental, OMIM:212093
- Cardiomyopathy
- Congenital heart malformations
Tags
- Q2_24_demote_red
- Q2_24_expert_review
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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 Green
- NHS GMS
- South West GLH
Phenotypes
- Cardiac valvular defect, developmental, OMIM:212093
Tags
- Q2_24_demote_red
- Q2_24_expert_review
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Version 4.3
Latest signed off version: v4.0
(1 May 2024)
Component of the following Super Panels:
Unexplained death in infancy and sudden unexplained death in childhood
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review
|
BIALLELIC, autosomal or pseudoautosomal
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Sources
- Expert Review Green
- Literature
Phenotypes
- Cardiac valvular defect, developmental, OMIM:212093
- neonatal cardiomyopathy
Tags
- Q2_24_demote_red
- Q2_24_expert_review
- Q2_24_NHS_review
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