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  3. CHRND
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Fetal hydrops

Gene: CHRND

No list
CHRND (cholinergic receptor nicotinic delta subunit)
EnsemblGeneIds (GRCh38): ENSG00000135902
EnsemblGeneIds (GRCh37): ENSG00000135902
OMIM: 100720, Gene2Phenotype
CHRND is in 5 panels

1 review

Zornitza Stark (Australian Genomics)

Green List (high evidence)

Typically presents with cystic hygroma/hydrops fetalis.
Sources: Expert list
Created: 30 Dec 2019, 4:54 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Multiple pterygium syndrome, lethal type, MIM#253290

Variants in this GENE are reported as part of current diagnostic practice

Created: 30 Dec 2019, 4:54 a.m.

Panel version: 1.16

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
Phenotypes
  • Multiple pterygium syndrome, lethal type, MIM#253290
OMIM
100720
Clinvar variants
Variants in CHRND
Penetrance
None
Panels with this gene

History Filter Activity

30 Dec 2019, Gel status: 0

Created, Added New Source, Set mode of inheritance, Set Phenotypes

Zornitza Stark (Australian Genomics)

gene: CHRND was added gene: CHRND was added to Fetal hydrops. Sources: Expert list Mode of inheritance for gene: CHRND was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: CHRND were set to Multiple pterygium syndrome, lethal type, MIM#253290 Review for gene: CHRND was set to GREEN gene: CHRND was marked as current diagnostic