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Clefting disorders

Gene: CHD1

Red List (low evidence)

CHD1 (chromodomain helicase DNA binding protein 1)
EnsemblGeneIds (GRCh38): ENSG00000153922
EnsemblGeneIds (GRCh37): ENSG00000153922
OMIM: 602118, Gene2Phenotype
CHD1 is in 6 panels

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Red List (low evidence)

Cannot find evidence for association with CL/P.
Created: 6 Feb 2021, 5:56 a.m. | Last Modified: 6 Feb 2021, 5:56 a.m.
Panel Version: 0.61

Details

Mode of Inheritance
Unknown
Sources
  • Expert Review Red
  • Victorian Clinical Genetics Services
Phenotypes
  • Cleft palate
OMIM
602118
Clinvar variants
Variants in CHD1
Penetrance
None
Panels with this gene

History Filter Activity

6 Feb 2021, Gel status: 1

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: chd1 has been classified as Red List (Low Evidence).

16 Sep 2020, Gel status: 1

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

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: CHD1 was added gene: CHD1 was added to Clefting_GEL. Sources: Victorian Clinical Genetics Services Mode of inheritance for gene: CHD1 was set to Unknown Phenotypes for gene: CHD1 were set to Cleft palate