Repeat Disorders
STR: CCHSGRCh37 Position: 41747989-41748048
GRCh38 Position: 41745972-41746031
Repeated Sequence: GCN
Normal Number of Repeats: < 20
Pathogenic Number of Repeats: = or > 25
PHOX2B (paired like homeobox 2b)
EnsemblGeneIds (GRCh38): ENSG00000109132
EnsemblGeneIds (GRCh37): ENSG00000109132
OMIM: 603851, Gene2Phenotype
PHOX2B is in 0 panels
1 review
Bryony Thompson (Royal Melbourne Hospital)
NM_003924.3:c.721_723[X]
Mechanism of disease is polyAlanine tract associated with dominant-negative effect.
Normal: 20 GCN (alanine) repeats
Uncertain significance: 21-23 GCN repeats have not been described in CCHS to date.
Later onset: 24 GCN repeats and a subset of individuals with 25 GCN repeats may have a very mild phenotype with delayed onset of the disorder and/or manifestations only when the individual is exposed to respiratory depressants and/or has severe intercurrent pulmonary illness.
Neonatal onset: 26-33 GCN repeats, as well as most with 25 GCN repeats, present in the newborn period
Sources: Expert listCreated: 21 Jun 2021, 9:56 a.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Central hypoventilation syndrome, congenital, with or without Hirschsprung disease MIM#209880
Publications
Clinically RelevantInterruptions in the repeated sequence are reported as part of standard diagnostic practise
Details
- Name
- CCHS
- Chromosome
- 4
- GRCh37 Coordinates
- 41747989-41748048
- GRCh38 Coordinates
- 41745972-41746031
- Repeated Sequence
- GCN
- Normal Number of Repeats: <
- 20
- Pathogenic Number of Repeats: = or >
- 25
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
- Sources
-
- Expert Review Green
- Expert list
- Phenotypes
-
- Central hypoventilation syndrome, congenital, with or without Hirschsprung disease MIM#209880
- Tags
- OMIM
- 603851
- Clinvar variants
- Variants in PHOX2B
- Penetrance
- None
- Publications
History Filter Activity
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Str: cchs has been classified as Green List (High Evidence).
Added Tag
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Tag paediatric-onset tag was added to STR: CCHS.
Entity classified by Genomics England curator
Bryony Thompson (Royal Melbourne Hospital)Str: cchs has been classified as Green List (High Evidence).
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes
Bryony Thompson (Royal Melbourne Hospital)STR: CCHS was added STR: CCHS was added to Repeat Disorders. Sources: Expert list Mode of inheritance for STR: CCHS was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for STR: CCHS were set to 12640453; 34012823; 20301600; 18798833 Phenotypes for STR: CCHS were set to Central hypoventilation syndrome, congenital, with or without Hirschsprung disease MIM#209880 Review for STR: CCHS was set to GREEN STR: CCHS was marked as clinically relevant