Level 2: Viral research
Version 1.141
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review
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BIALLELIC, autosomal or pseudoautosomal
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Sources
- Expert Review Green
- IUIS Classification December 2019
- IUIS Classification February 2018
- Literature
- IUIS Classification December 2019
- IUIS Classification February 2018
- Literature
Phenotypes
- neutropenia
- Immunodeficient HPS
- seizures
- Diseases of Immune Dysregulation
- Hermansky-Pudlak syndrome with neutropenia
- neuordevelopmental delay
- albinism
- ?Hermansky-Pudlak syndrome 10, 617050
- Hermansky-Pudlak syndrome
- Oculocutaneous albinism, recurrent infections, seizures, hearing loss and neurodevelopmental delay
- Oculocutaneous albinism, severe neutropenia, recurrent infections, seizures, hearing loss and neurodevelopmental delay
- HSP10
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Level 3: Haemostasis disorders
Level 2: Haematological and immunological disorders
Version 1.176
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review
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BIALLELIC, autosomal or pseudoautosomal
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Sources
- Expert Review Green
- Literature
Phenotypes
- ?Hermansky-Pudlak syndrome 10
- Platelet disorder
- Hermansky-Pudlak syndrome and MR
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Version 3.5
Latest signed off version: v3.0
(22 Mar 2023)
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review
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BIALLELIC, autosomal or pseudoautosomal
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Sources
- Expert Review Amber
- NHS GMS
Phenotypes
- ?Hermansky-Pudlak syndrome 10 617050 AR
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Version 4.196
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
- Other
- IUIS Classification December 2019
- IUIS Classification February 2018
- Literature
Phenotypes
- Oculocutaneous albinism, recurrent infections, seizures, hearing loss and neurodevelopmental delay
- Diseases of Immune Dysregulation
- Hermansky-Pudlak syndrome with neutropenia
- Oculocutaneous albinism, severe neutropenia, recurrent infections, seizures, hearing loss and neurodevelopmental delay
- albinism
- HSP10
- seizures
- neutropenia
- Immunodeficient HPS
- neuordevelopmental delay
- Hermansky-Pudlak syndrome
- ?Hermansky-Pudlak syndrome 10, 617050
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Version 3.8
Latest signed off version: v3.0
(22 Mar 2023)
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review
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BIALLELIC, autosomal or pseudoautosomal
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Sources
- Expert Review Green
- North West GLH
- Yorkshire and North East GLH
- London South GLH
- NHS GMS
- Wessex and West Midlands GLH
Phenotypes
- 617050 ?Hermansky-Pudlak syndrome 10
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Level 3: Non-syndromic hearing loss
Level 2: Hearing and ear disorders
Version 4.26
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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Not set
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Sources
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Version 1.182
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review
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BIALLELIC, autosomal or pseudoautosomal
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Sources
- Next Generation Children Project
- Expert Review Green
- Expert list
Phenotypes
- ?Hermansky-Pudlak syndrome 10, 617050
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