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LHX6

Synonyms
LHX6.1, hLHX6
External resources
Summary
This gene encodes a member of a large protein family that contains the LIM domain, a unique cysteine-rich zinc-binding domain. The encoded protein has tandem LIM domains as well as a DNA-binding homeodomain. The protein functions as a transcription factor involved in embryogenesis and head development and is highly expressed in neural crest derived mesenchyme cells. Alternative splicing results in multiple transcript variants encoding distinct isoforms.

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
6
Likely pathogenic
20
VUS
12,189
Likely benign
793
Benign
0

Patient phenotypes

Proportions of phenotypes among 24 patients carrying pathogenic or likely pathogenic variants on LHX6 gene are displayed below.

Phenotype class
Patients in 3billion (%)
Abnormality of the nervous system
41.7%
Abnormality of the musculoskeletal system
33.3%
Abnormality of the cardiovascular system
29.2%
Abnormality of the eye
29.2%
Abnormality of the ear
16.7%
Abnormality of head or neck
12.5%
Abnormality of the digestive system
8.3%
Abnormality of the genitourinary system
8.3%
Abnormality of the integument
8.3%
Growth abnormality
8.3%
Abnormal cellular phenotype
4.2%
Abnormality of blood and blood-forming tissues
4.2%
Abnormality of prenatal development or birth
4.2%
Abnormality of the immune system
4.2%
Constitutional symptom
4.2%
Abnormality of limbs
0%
Abnormality of metabolism homeostasis
0%
Abnormality of the breast
0%
Abnormality of the endocrine system
0%
Abnormality of the respiratory system
0%
Abnormality of the thoracic cavity
0%
Abnormality of the voice
0%
Neoplasm
0%

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