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AASS

Synonyms
LKR/SDH, LKRSDH, LORSDH
External resources
Summary
This gene encodes a bifunctional enzyme that catalyzes the first two steps in the mammalian lysine degradation pathway. The N-terminal and the C-terminal portions of this enzyme contain lysine-ketoglutarate reductase and saccharopine dehydrogenase activity, respectively, resulting in the conversion of lysine to alpha-aminoadipic semialdehyde. Mutations in this gene are associated with familial hyperlysinemia.

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
7
Likely pathogenic
0
VUS
4,244
Likely benign
571
Benign
16

Patient phenotypes

Proportions of phenotypes among 7 patients carring pathogenic or likely pathogenic variants on AASS gene are displayed below.

Phenotype class
Patients in 3billion (%)
Abnormality of head or neck
28.6%
Abnormality of the cardiovascular system
28.6%
Abnormality of the musculoskeletal system
28.6%
Abnormality of the nervous system
28.6%
Neoplasm
28.6%
Abnormality of blood and blood-forming tissues
14.3%
Abnormality of limbs
14.3%
Abnormality of the ear
14.3%
Abnormality of the eye
14.3%
Abnormality of the genitourinary system
14.3%
Abnormality of the immune system
14.3%
Abnormal cellular phenotype
0%
Abnormality of metabolism homeostasis
0%
Abnormality of prenatal development or birth
0%
Abnormality of the breast
0%
Abnormality of the digestive system
0%
Abnormality of the endocrine 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%
Growth abnormality
0%

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