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PAH

Synonyms
PH, PKU, PKU1
External resources
Summary
This gene encodes a member of the biopterin-dependent aromatic amino acid hydroxylase protein family. The encoded phenylalanine hydroxylase enzyme hydroxylates phenylalanine to tyrosine and is the rate-limiting step in phenylalanine catabolism. Deficiency of this enzyme activity results in the autosomal recessive disorder phenylketonuria.

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
169
Likely pathogenic
18
VUS
3,272
Likely benign
1,049
Benign
480

Patient phenotypes

Proportions of phenotypes among 182 patients carring pathogenic or likely pathogenic variants on PAH gene are displayed below.

Phenotype class
Patients in 3billion (%)
Abnormality of the nervous system
42.3%
Abnormality of the eye
37.4%
Abnormality of the musculoskeletal system
32.4%
Abnormality of head or neck
25.3%
Abnormality of the cardiovascular system
15.9%
Abnormality of the ear
13.7%
Growth abnormality
13.2%
Abnormality of the integument
11.5%
Abnormality of limbs
9.9%
Abnormality of the digestive system
8.8%
Abnormality of the genitourinary system
8.2%
Abnormality of the immune system
6%
Abnormality of the endocrine system
4.9%
Abnormality of the respiratory system
4.4%
Neoplasm
3.3%
Abnormality of blood and blood-forming tissues
2.7%
Abnormality of prenatal development or birth
2.2%
Constitutional symptom
2.2%
Abnormal cellular phenotype
1.1%
Abnormality of the breast
1.1%
Abnormality of metabolism homeostasis
0%
Abnormality of the thoracic cavity
0%
Abnormality of the voice
0%

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