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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

The variants found in rare patients tested by 3billion are classified and counted according to ACMG guidelines. The variants with over 5% variant frequency in population genome databases ( gnomAD, dbSNP, etc) are excluded.

Pathogenic
304
Likely pathogenic
83
VUS
5,780
Likely benign
1,422
Benign
14,909

Patient phenotypes

Proportions of phenotypes among 371 patients carrying pathogenic or likely pathogenic variants on PAH gene are displayed below.

Phenotype class
Patients in 3billion (%)
Abnormality of the nervous system
44.2%
Abnormality of the musculoskeletal system
26.4%
Abnormality of the eye
25.1%
Abnormality of head or neck
19.9%
Abnormality of the cardiovascular system
15.9%
Abnormality of the integument
11.1%
Growth abnormality
11.1%
Abnormality of the ear
10%
Abnormality of limbs
9.2%
Abnormality of the genitourinary system
8.6%
Abnormality of the digestive system
7%
Abnormality of the immune system
6.2%
Abnormality of the endocrine system
4.6%
Neoplasm
4.3%
Abnormality of blood and blood-forming tissues
4%
Abnormality of the respiratory system
3.2%
Abnormality of prenatal development or birth
1.6%
Constitutional symptom
1.6%
Abnormality of the breast
1.1%
Abnormal cellular phenotype
0.5%
Abnormality of metabolism homeostasis
0%
Abnormality of the thoracic cavity
0%
Abnormality of the voice
0%

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