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APC2

APC regulator of WNT signaling pathway 2

HCNC Approved Symbol
APC2 (HGNC:24036)
Genomic Coordinates
19:1,446,230 - 1,473,244 (19p13.3)
Synonyms
APCL
Disease Associations
This gene is associated with the following 2 diseases in OMIM.
View More Disease Info
Disease NameOMIM IDInheritance
Cortical dysplasia, complex, with other brain malformations 10
618677AR
Intellectual developmental disorder, autosomal recessive 74
617169AR

Diagnosed Cases

2Patients

In total, 2 patients were diagnosed with a variant in the APC2 gene.

Frequently observed phenotypes

(Top 5 only, Patient count*)
*% of total patients presenting each phenotype is shown in parentheses.

Abnormality of the anus
 2 (100.0%)
Broad forehead
 2 (100.0%)
Concave nasal ridge
 2 (100.0%)
Generalized hypotonia
 2 (100.0%)
Global developmental delay
 2 (100.0%)