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ADPRHL1

Synonyms
ARH2
External resources
Summary
ADP-ribosylation is a reversible posttranslational modification used to regulate protein function. ADP-ribosyltransferases (see ART1; MIM 601625) transfer ADP-ribose from NAD+ to the target protein, and ADP-ribosylhydrolases, such as ADPRHL1, reverse the reaction (Glowacki et al., 2002

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
87
Likely pathogenic
12
VUS
4,144
Likely benign
227
Benign
0

Patient Phenotypes

Proportions of phenotypes among 99 patients carrying pathogenic or likely pathogenic variants on ADPRHL1 gene are displayed below. The following symptoms were found in patients with a variant in ADPRHL1. However, patients may have been diagnosed with a different variant.

Phenotype class
Patients in 3billion (%)
Abnormality of the nervous system
38.4%
Abnormality of the eye
23.2%
Abnormality of head or neck
20.2%
Abnormality of the musculoskeletal system
17.2%
Abnormality of the cardiovascular system
16.2%
Growth abnormality
11.1%
Abnormality of the ear
10.1%
Abnormality of the integument
7.1%
Abnormality of limbs
6.1%
Abnormality of metabolism homeostasis
5.1%
Abnormality of prenatal development or birth
5.1%
Abnormality of the digestive system
4%
Abnormality of blood and blood forming tissues
3%
Abnormality of the immune system
3%
Abnormality of the endocrine system
2%
Abnormality of the genitourinary system
1%
Constitutional symptom
1%
Neoplasm
1%
Abnormal cellular phenotype
0%
Abnormality of the breast
0%
Abnormality of the respiratory system
0%
Abnormality of the thoracic cavity
0%
Abnormality of the voice
0%

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