Level 3: Gastrointestinal disorders
Level 2: Gastroenterological disorders
Version 1.10
|
review
|
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
|
Sources
- Expert Review Green
- UKGTN
- Illumina TruGenome Clinical Sequencing Services
- Radboud University Medical Center, Nijmegen
- Alder Hey - Erasmus MC
Phenotypes
- Central hypoventilation syndrome, congenital, with or without Hirschsprung disease, 209880
- Neuroblastoma with Hirschsprung disease, 613013
- Congenital Central Hypoventilation Syndrome
- Central Hypoventilation Syndrome, Congenital, 209880
Tags
- nucleotide-repeat-expansion
|
Level 3: Muscle and nerve
Level 2: Tumour syndromes
Version 1.14
|
review
|
Not set
|
Sources
- Expert Review Red
- Emory Genetics Laboratory
Phenotypes
- Brain, CNS, and PNS Cancer
- susceptibility to neuroblastoma
|
Version 1.17
|
review
|
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
|
Sources
- Expert Review Green
- Radboud University Medical Center, Nijmegen
- Emory Genetics Laboratory
- UKGTN
- Illumina TruGenome Clinical Sequencing Services
Phenotypes
- Central hypoventilation syndrome, congenital, with or without Hirschsprung disease 209880
Tags
- nucleotide-repeat-expansion
|
Level 3: Interstitial lung disorders
Level 2: Respiratory disorders
Version 1.31
|
review
|
Not set
|
Sources
- Expert Review Red
- Emory Genetics Laboratory
Phenotypes
|
Level 3: Cardiac arrhythmia
Level 2: Cardiovascular disorders
Version 1.15
|
review
|
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
|
Sources
- Expert Review Green
- Radboud University Medical Center, Nijmegen
- Emory Genetics Laboratory
- Literature
- Other
Phenotypes
- sudden infant death syndrome
- unclassified sudden infant death
- USID
- Congenital Central Hypoventilation Syndrome
- CCHS
- Central hypoventilation syndrome, congenital, with or without Hirschsprung disease, 209880
Tags
- nucleotide-repeat-expansion
|
Level 3: Childhood Tumours
Level 2: Tumour syndromes
Version 4.18
Latest signed off version: v4.0
(22 Mar 2023)
|
review
|
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
|
Sources
- NHS GMS
- Expert List
- Expert Review Green
- Other
- Eligibility statement prior genetic testing
Phenotypes
- Familial Clustering of Neuroblastoma
|
Level 3: Pertinent cancer susceptibility gene panel
Level 2: Cancer Programme
Version 1.27
|
review
|
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
|
Sources
- Expert Review Green
- Expert list
Phenotypes
- Familial Clustering of Neuroblastoma
|
Version 3.169
Latest signed off version: v3.0
(22 Mar 2023)
|
review
|
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
|
Sources
- PAGE DD-Gene2Phenotype
- Expert Review Green
Phenotypes
- NEUROBLASTOMA WITH HIRSCHSPRUNG DISEASE
- CENTRAL HYPOVENTILATION SYNDROME, CONGENITAL, WITH OR WITHOUT HIRSCHSPRUNG DISEASE
|
Version 3.90
Latest signed off version: v3.1
(22 Mar 2023)
Component of the following Super Panels:
Paediatric disorders
|
review
|
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
|
Sources
- DD-Gene2Phenotype
- Expert Review Green
Phenotypes
- CENTRAL HYPOVENTILATION SYNDROME, CONGENITAL, WITH OR WITHOUT HIRSCHSPRUNG DISEASE 209880
- NEUROBLASTOMA WITH HIRSCHSPRUNG DISEASE 613013
|
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
|
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
|
Sources
Phenotypes
- CENTRAL HYPOVENTILATION SYNDROME, CONGENITAL, WITH OR WITHOUT HIRSCHSPRUNG DISEASE
|
Version 1.184
|
review
|
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
|
Sources
- Next Generation Children Project
- Expert Review Green
- Expert list
Phenotypes
- Neuroblastoma with Hirschsprung disease, 613013
- Central hypoventilation syndrome, congenital, with or without Hirschsprung disease, 209880
|
Version 1.5
Latest signed off version: v1.0
(22 Mar 2023)
|
review
|
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
|
Sources
- Expert Review Green
- Expert list
Phenotypes
- Central hypoventilation syndrome, congenital, 1, with or without Hirschsprung disease, OMIM:209880
- central hypoventilation syndrome, congenital, MONDO:0800031
- Neuroblastoma with Hirschsprung disease, OMIM:613013
- neuroblastoma, susceptibility to, 2, MONDO:0700041
Tags
|
Version 1.1
Latest signed off version: v1.0
(14 Sep 2023)
|
review
|
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
|
Sources
- Expert Review Green
- NHS GMS
|