Level 2: Viral research
Version 1.142
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review
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BIALLELIC, autosomal or pseudoautosomal
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Sources
- IUIS Classification February 2018
- London North GLH
- NHS GMS
- GRID V2.0
- Victorian Clinical Genetics Services
- North West GLH
- ESID Registry 20171117
- Expert Review Green
- NHS GMS
- North West GLH
- London North GLH
- IUIS Classification February 2018
- Victorian Clinical Genetics Services
- Expert Review Green
- ESID Registry 20171117
- GRID V2.0
Phenotypes
- Partial albinism, recurrent infections, pulmonary fibrosis, increased bleeding, neutropenia, HLH
- Immunodeficient HPS
- Hermansky-Pudlak syndrome 2
- Diseases of Immune Dysregulation
- Hermansky-Pudlak syndrome with neutropenia
- Hermansky-Pudlak syndrome, 608233
- HPS2
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Level 3: Interstitial lung disorders
Level 2: Respiratory disorders
Version 1.31
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review
|
BIALLELIC, autosomal or pseudoautosomal
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Sources
- Expert Review Green
- Emory Genetics Laboratory
Phenotypes
- Pulmonary Fibrosis and Hermansky-Pudlak Syndrome
- Hermansky-Pudlak syndrome 2, 608233
- Pulmonary Disease
- Pulmonary fibrosis
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Level 3: Autophagy disorders
Level 2: Dysmorphic and congenital abnormality syndromes
Version 1.2
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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 2
Tags
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Version 3.12
Latest signed off version: v3.0
(22 Mar 2023)
|
review
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
- London North GLH
- NHS GMS
- Expert Review Green
Phenotypes
- HERMANSKY-PUDLAK SYNDROME 2
- Hermansky-Pudlak syndrome
- HPS2
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Level 3: Haemostasis disorders
Level 2: Haematological and immunological disorders
Version 1.178
|
review
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
- Expert Review Green
- BRIDGE Study Tier 1 Gene
Phenotypes
- Hermansky-Pudlak syndrome
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Version 3.5
Latest signed off version: v3.0
(22 Mar 2023)
|
review
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
- Expert Review Green
- Expert list
Phenotypes
- Hermansky-Pudlak syndrome 2 608233 AR
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Version 4.202
Latest signed off version: v4.0
(22 Mar 2023)
|
review
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
- Expert Review Green
- Other
- NHS GMS
- North West GLH
- London North GLH
- IUIS Classification February 2018
- Victorian Clinical Genetics Services
- ESID Registry 20171117
- GRID V2.0
Phenotypes
- Hermansky-Pudlak syndrome 2
- HPS2
- Hermansky-Pudlak syndrome, 608233
- Immunodeficient HPS
- Hermansky-Pudlak syndrome with neutropenia
- Partial albinism, recurrent infections, pulmonary fibrosis, increased bleeding, neutropenia, HLH
- Diseases of Immune Dysregulation
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Version 1.63
Latest signed off version: v1.3
(15 Oct 2020)
|
review
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
Phenotypes
- Hermansky-Pudlak syndrome 2
|
Version 3.10
Latest signed off version: v3.0
(22 Mar 2023)
|
review
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
- North West GLH
- Yorkshire and North East GLH
- London South GLH
- NHS GMS
- Expert Review Green
- Wessex and West Midlands GLH
Phenotypes
- 608233 Hermansky-Pudlak syndrome 2
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Version 3.34
Latest signed off version: v3.0
(22 Mar 2023)
|
review
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
- Expert Review Amber
- Expert review Amber
- NHS GMS
- North West GLH
- London South GLH
- Yorkshire and North East GLH
- Wessex and West Midlands GLH
Phenotypes
- Hermansky-Pudlak syndrome 2, 608233
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Version 3.169
Latest signed off version: v3.0
(22 Mar 2023)
|
review
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
- Expert Review Red
- PAGE Additional Gene List
Phenotypes
- Hermansky-Pudlak syndrome 2 608233
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Level 3: Neurodevelopmental disorders
Level 2: Neurology and neurodevelopmental disorders
Version 5.557
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
- Victorian Clinical Genetics Services
- Expert Review Green
- Expert Review Green
- Radboud University Medical Center, Nijmegen
Phenotypes
- Hermansky-Pudlak syndrome 2 608233
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Version 1.184
|
review
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
- Next Generation Children Project
- Expert Review Green
- Expert list
Phenotypes
- Hermansky-Pudlak syndrome 2, 608233
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Level 3: Interstitial lung disorders
Level 2: Respiratory disorders
Version 1.7
Latest signed off version: v1.3
(30 Nov 2022)
|
review
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
Phenotypes
- Hermansky-Pudlak syndrome 2, OMIM:608233
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