Level 3: Urea Cycle disorders
Level 2: Metabolic disorders
Version 1.21
|
review
|
Not set
|
Sources
- Emory Genetics Laboratory
|
Level 3: Liver disease
Level 2: Gastroenterological disorders
Version 1.26
|
review
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
- Expert Review Green
- Victorian Clinical Genetics Services
- Emory Genetics Laboratory
Phenotypes
- Niemann-Pick disease, type A 257200
|
Level 3: Fetal disorders
Level 2: Dysmorphic and congenital abnormality syndromes
Version 1.64
|
review
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
- Eligibility statement prior genetic testing
- Expert Review Green
- Literature
Phenotypes
- Niemann-Pick disease, type A, 257200
|
Level 3: Interstitial lung disorders
Level 2: Respiratory disorders
Version 1.31
|
review
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
- Expert Review Green
- Emory Genetics Laboratory
- UKGTN
- Illumina TruGenome Clinical Sequencing Services
- Radboud University Medical Center, Nijmegen
Phenotypes
- Niemann-Pick disease, type A 257200
- Niemann-Pick disease, type B 607616
|
Version 3.4
Latest signed off version: v3.0
(22 Mar 2023)
|
review
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
- Expert Review Green
- Expert list
Phenotypes
- Niemann-Pick disease, type A, OMIM:257200, MONDO:0009756
|
Version 3.3
Latest signed off version: v3.0
(22 Mar 2023)
|
review
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
- NHS GMS
- Wessex and West Midlands GLH
- Expert Review Green
- North London GLH
Phenotypes
- Niemann-Pick disease, type A OMIM:257200
- Niemann-Pick disease type A MONDO:0009756
- Niemann-Pick disease, type B OMIM:607616
- Niemann-Pick disease type B MONDO:0011871
|
Level 3: Specific metabolic abnormalities
Level 2: Metabolic disorders
Version 1.617
|
review
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
- Expert Review Green
- Radboud University Medical Center, Nijmegen
- UKGTN
- Emory Genetics Laboratory
- Illumina TruGenome Clinical Sequencing Services
- Literature
Phenotypes
- Niemann-Pick disease, type A 257200
- Niemann-Pick disease, type B 607616
|
Version 4.137
Latest signed off version: v4.0
(22 Mar 2023)
Component of the following Super Panels:
Childhood onset leukodystrophy
Hypotonic infant
Paediatric disorders
Unexplained death in infancy and sudden unexplained death in childhood
|
review
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
- London North GLH
- NHS GMS
- Expert Review Green
Phenotypes
- Niemann-Pick disease, type A, 257200
- Niemann-Pick disease, type B, 607616
|
Version 3.169
Latest signed off version: v3.0
(22 Mar 2023)
|
review
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
- Expert Review Green
- PAGE DD-Gene2Phenotype
Phenotypes
- NIEMANN-PICK DISEASE TYPE B
- NIEMANN-PICK DISEASE TYPE A
|
Version 3.90
Latest signed off version: v3.1
(22 Mar 2023)
Component of the following Super Panels:
Paediatric disorders
|
review
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
- DD-Gene2Phenotype
- Expert Review Green
Phenotypes
- NIEMANN-PICK DISEASE TYPE B 607616
- NIEMANN-PICK DISEASE TYPE A 257200
|
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
- Expert Review Green
- Radboud University Medical Center, Nijmegen
Phenotypes
- Niemann-Pick disease, type A, 257200Niemann-Pick disease, type B, 607616
- NIEMANN-PICK DISEASE TYPE A (NPDA)
|
Version 3.78
Latest signed off version: v3.0
(22 Mar 2023)
|
review
|
Not set
|
Sources
- Expert Review Red
- London North GLH
|
Version 1.184
|
review
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
- Next Generation Children Project
- Expert Review Green
- Expert list
Phenotypes
- Niemann-Pick disease, type B, 607616
- Niemann-Pick disease, type A, 257200
|
Version 1.1
Latest signed off version: v1.0
(14 Sep 2023)
|
review
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
- NHS GMS
- Expert Review Green
|