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Mackenzie's Mission_Reproductive Carrier Screening

Gene: CABP4

Green List (high evidence)

CABP4 (calcium binding protein 4)
EnsemblGeneIds (GRCh38): ENSG00000175544
EnsemblGeneIds (GRCh37): ENSG00000175544
OMIM: 608965, Gene2Phenotype
CABP4 is in 5 panels

0 reviews

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Cone-rod synaptic disorder, congenital nonprogressive, 610427 (3)
OMIM
608965
Clinvar variants
Variants in CABP4
Penetrance
None
Panels with this gene

History Filter Activity

19 Apr 2020, Gel status: 3

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

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: CABP4 was added gene: CABP4 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green Mode of inheritance for gene: CABP4 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: CABP4 were set to Cone-rod synaptic disorder, congenital nonprogressive, 610427 (3)