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APCDD1

Synonyms
B7323, DRAPC1, FP7019, HHS, HTS, HYPT1
External resources
Summary
This locus encodes an inhibitor of the Wnt signaling pathway. Mutations at this locus have been associated with hereditary hypotrichosis simplex. Increased expression of this gene may also be associated with colorectal carcinogenesis.

Variant counts

Variant classification counts according to ACMG guideline on all identified variants among our tested samples are listed. The variants with over 5% variant frequency in population genome databases ( gnomAD, dbSNP, etc) are excluded.

Pathogenic
5
Likely pathogenic
0
VUS
369
Likely benign
557
Benign
642

Patient phenotypes

Proportions of phenotypes among 3 patients carring pathogenic or likely pathogenic variants on APCDD1 gene are displayed below.

Phenotype class
Patients in 3billion (%)
Abnormality of head or neck
66.7%
Abnormality of the musculoskeletal system
66.7%
Abnormality of the nervous system
66.7%
Abnormality of the eye
33.3%
Growth abnormality
33.3%
Abnormal cellular phenotype
0%
Abnormality of blood and blood-forming tissues
0%
Abnormality of limbs
0%
Abnormality of metabolism homeostasis
0%
Abnormality of prenatal development or birth
0%
Abnormality of the breast
0%
Abnormality of the cardiovascular system
0%
Abnormality of the digestive system
0%
Abnormality of the ear
0%
Abnormality of the endocrine system
0%
Abnormality of the genitourinary system
0%
Abnormality of the immune system
0%
Abnormality of the integument
0%
Abnormality of the respiratory system
0%
Abnormality of the thoracic cavity
0%
Abnormality of the voice
0%
Constitutional symptom
0%
Neoplasm
0%

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