ASXL3 Chromosome 18
ASXL transcriptional regulator 3
Upload your DNA to see your personal genotypes for variants in ASXL3.
What This Gene Does
This gene encodes a protein containing a plant homeodomain (PHD) zinc finger domain that plays a role in the regulation of gene transcription. The encoded protein has been shown to negatively regulate lipogenesis by binding to and inhibiting the transcriptional activity of two nuclear hormone receptors, oxysterols receptor LXR-alpha (LXRalpha) and thyroid hormone receptor beta (TRbeta). The encoded protein may also inhibit histone deubiquitination. Mutations in this gene have been identified in human patients with Bainbridge-Ropers syndrome, which is characterized by feeding difficulties, developmental delay and other features. [provided by RefSeq, May 2017]
Associated Conditions (20)
Severe feeding difficulties-failure to thrive-microcephaly due to ASXL3 deficiency syndrome
Inborn genetic diseases
ASXL3-related disorder
Intellectual disability
See cases
Abnormal brain morphology
Generalized hypotonia
Gastrostomy tube feeding in infancy
Decreased activity of mitochondrial complex I
Global developmental delay
Absent speech
Marfanoid habitus and intellectual disability
Rare syndromic intellectual disability
Language retardation
intellectual deficiency
Neurodevelopmental disorder
Autism spectrum disorder
Atypical behavior
Sleep disturbance
Decreased head circumference
Key Variants
RS1186502689
Conflicting classifications of pathogenicity
Severe feeding difficulties-failure to thrive-microcephaly due to ASXL3 deficiency syndrome, Inborn genetic diseases, Severe feeding difficulties-failure to thrive-microcephaly due to ASXL3 deficiency syndrome
Health Risk
RS1235588816
Conflicting classifications of pathogenicity
Severe feeding difficulties-failure to thrive-microcephaly due to ASXL3 deficiency syndrome, Severe feeding difficulties-failure to thrive-microcephaly due to ASXL3 deficiency syndrome
Health Risk
RS1302254196
Conflicting classifications of pathogenicity
ASXL3-related disorder, Severe feeding difficulties-failure to thrive-microcephaly due to ASXL3 deficiency syndrome, ASXL3-related disorder
Health Risk
RS151027205
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS1599573656
Conflicting classifications of pathogenicity
Intellectual disability, Severe feeding difficulties-failure to thrive-microcephaly due to ASXL3 deficiency syndrome, Intellectual disability
Health Risk
RS1599574018
Conflicting classifications of pathogenicity
Severe feeding difficulties-failure to thrive-microcephaly due to ASXL3 deficiency syndrome, Severe feeding difficulties-failure to thrive-microcephaly due to ASXL3 deficiency syndrome
Health Risk
RS189786599
Conflicting classifications of pathogenicity
ASXL3-related disorder, ASXL3-related disorder
Health Risk
RS199888171
Conflicting classifications of pathogenicity
Inborn genetic diseases, Severe feeding difficulties-failure to thrive-microcephaly due to ASXL3 deficiency syndrome, ASXL3-related disorder
Health Risk
RS201465737
Conflicting classifications of pathogenicity
See cases, Inborn genetic diseases, See cases
Health Risk
RS201776257
Conflicting classifications of pathogenicity
Inborn genetic diseases, ASXL3-related disorder, Inborn genetic diseases
Health Risk
RS2067697776
Conflicting classifications of pathogenicity
Severe feeding difficulties-failure to thrive-microcephaly due to ASXL3 deficiency syndrome, Intellectual disability, Severe feeding difficulties-failure to thrive-microcephaly due to ASXL3 deficiency syndrome
Health Risk
RS2067715986
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
All Variants (208)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS2145413895 | Health Risk | Pathogenic | Severe feeding difficulties-failure to thrive-microcephaly due to ASXL3 deficiency syndrome, Severe feeding difficulties-failure to thrive-microcephaly due to ASXL3 deficiency syndrome |
| RS2145423153 | Health Risk | Pathogenic | Severe feeding difficulties-failure to thrive-microcephaly due to ASXL3 deficiency syndrome, Severe feeding difficulties-failure to thrive-microcephaly due to ASXL3 deficiency syndrome |
| RS2145423515 | Health Risk | Pathogenic | — |
| RS2145424188 | Health Risk | Pathogenic | Neurodevelopmental disorder, Neurodevelopmental disorder |
| RS2145424341 | Health Risk | Pathogenic | Severe feeding difficulties-failure to thrive-microcephaly due to ASXL3 deficiency syndrome, Severe feeding difficulties-failure to thrive-microcephaly due to ASXL3 deficiency syndrome |
| RS2145425088 | Health Risk | Pathogenic | — |
| RS2145425465 | Health Risk | Pathogenic | — |
| RS2145425479 | Health Risk | Pathogenic | Severe feeding difficulties-failure to thrive-microcephaly due to ASXL3 deficiency syndrome, Severe feeding difficulties-failure to thrive-microcephaly due to ASXL3 deficiency syndrome |
| RS2145426865 | Health Risk | Pathogenic | Severe feeding difficulties-failure to thrive-microcephaly due to ASXL3 deficiency syndrome, Severe feeding difficulties-failure to thrive-microcephaly due to ASXL3 deficiency syndrome |
| RS2145429823 | Health Risk | Pathogenic | Severe feeding difficulties-failure to thrive-microcephaly due to ASXL3 deficiency syndrome, Severe feeding difficulties-failure to thrive-microcephaly due to ASXL3 deficiency syndrome |
| RS2145431059 | Health Risk | Pathogenic | — |
| RS2145433524 | Health Risk | Pathogenic | Severe feeding difficulties-failure to thrive-microcephaly due to ASXL3 deficiency syndrome, Severe feeding difficulties-failure to thrive-microcephaly due to ASXL3 deficiency syndrome |
| RS2510907457 | Health Risk | Pathogenic | Severe feeding difficulties-failure to thrive-microcephaly due to ASXL3 deficiency syndrome, Severe feeding difficulties-failure to thrive-microcephaly due to ASXL3 deficiency syndrome |
| RS2510916120 | Health Risk | Pathogenic | Inborn genetic diseases, Inborn genetic diseases |
| RS2510916454 | Health Risk | Pathogenic | — |
| RS2510916552 | Health Risk | Pathogenic | Severe feeding difficulties-failure to thrive-microcephaly due to ASXL3 deficiency syndrome, Severe feeding difficulties-failure to thrive-microcephaly due to ASXL3 deficiency syndrome |
| RS2510916589 | Health Risk | Pathogenic | Severe feeding difficulties-failure to thrive-microcephaly due to ASXL3 deficiency syndrome, Severe feeding difficulties-failure to thrive-microcephaly due to ASXL3 deficiency syndrome |
| RS2510916787 | Health Risk | Pathogenic | Severe feeding difficulties-failure to thrive-microcephaly due to ASXL3 deficiency syndrome, Severe feeding difficulties-failure to thrive-microcephaly due to ASXL3 deficiency syndrome |
| RS2510916863 | Health Risk | Pathogenic | Severe feeding difficulties-failure to thrive-microcephaly due to ASXL3 deficiency syndrome, Severe feeding difficulties-failure to thrive-microcephaly due to ASXL3 deficiency syndrome |
| RS2510916984 | Health Risk | Pathogenic | Severe feeding difficulties-failure to thrive-microcephaly due to ASXL3 deficiency syndrome, Severe feeding difficulties-failure to thrive-microcephaly due to ASXL3 deficiency syndrome |
| RS2510917105 | Health Risk | Pathogenic | Severe feeding difficulties-failure to thrive-microcephaly due to ASXL3 deficiency syndrome, Severe feeding difficulties-failure to thrive-microcephaly due to ASXL3 deficiency syndrome |
| RS2510917990 | Health Risk | Pathogenic | — |
| RS2510918263 | Health Risk | Pathogenic | Severe feeding difficulties-failure to thrive-microcephaly due to ASXL3 deficiency syndrome, Severe feeding difficulties-failure to thrive-microcephaly due to ASXL3 deficiency syndrome |
| RS2510918753 | Health Risk | Pathogenic | Severe feeding difficulties-failure to thrive-microcephaly due to ASXL3 deficiency syndrome, Severe feeding difficulties-failure to thrive-microcephaly due to ASXL3 deficiency syndrome |
| RS2510924015 | Health Risk | Pathogenic | — |
| RS2510924026 | Health Risk | Pathogenic | Severe feeding difficulties-failure to thrive-microcephaly due to ASXL3 deficiency syndrome, Severe feeding difficulties-failure to thrive-microcephaly due to ASXL3 deficiency syndrome |
| RS2510924694 | Health Risk | Pathogenic | Severe feeding difficulties-failure to thrive-microcephaly due to ASXL3 deficiency syndrome, Severe feeding difficulties-failure to thrive-microcephaly due to ASXL3 deficiency syndrome |
| RS2510926476 | Health Risk | Pathogenic | Severe feeding difficulties-failure to thrive-microcephaly due to ASXL3 deficiency syndrome, Severe feeding difficulties-failure to thrive-microcephaly due to ASXL3 deficiency syndrome |
| RS2510928763 | Health Risk | Pathogenic | — |
| RS2510929819 | Health Risk | Pathogenic | Severe feeding difficulties-failure to thrive-microcephaly due to ASXL3 deficiency syndrome, Severe feeding difficulties-failure to thrive-microcephaly due to ASXL3 deficiency syndrome |
| RS2510930101 | Health Risk | Pathogenic | Severe feeding difficulties-failure to thrive-microcephaly due to ASXL3 deficiency syndrome, Severe feeding difficulties-failure to thrive-microcephaly due to ASXL3 deficiency syndrome |
| RS552703360 | Health Risk | Pathogenic | Autism spectrum disorder, Autism spectrum disorder |
| RS587777061 | Health Risk | Pathogenic | Severe feeding difficulties-failure to thrive-microcephaly due to ASXL3 deficiency syndrome, Severe feeding difficulties-failure to thrive-microcephaly due to ASXL3 deficiency syndrome |
| RS587777062 | Health Risk | Pathogenic | Severe feeding difficulties-failure to thrive-microcephaly due to ASXL3 deficiency syndrome, Severe feeding difficulties-failure to thrive-microcephaly due to ASXL3 deficiency syndrome |
| RS762650572 | Health Risk | Pathogenic | See cases, See cases |
| RS797045317 | Health Risk | Pathogenic | Severe feeding difficulties-failure to thrive-microcephaly due to ASXL3 deficiency syndrome, Severe feeding difficulties-failure to thrive-microcephaly due to ASXL3 deficiency syndrome |
| RS869312696 | Health Risk | Pathogenic | Severe feeding difficulties-failure to thrive-microcephaly due to ASXL3 deficiency syndrome, Severe feeding difficulties-failure to thrive-microcephaly due to ASXL3 deficiency syndrome |
| RS886039650 | Health Risk | Pathogenic | — |
| RS886041652 | Health Risk | Pathogenic | — |
| RS886041753 | Health Risk | Pathogenic | Severe feeding difficulties-failure to thrive-microcephaly due to ASXL3 deficiency syndrome, Severe feeding difficulties-failure to thrive-microcephaly due to ASXL3 deficiency syndrome |
| RS886041785 | Health Risk | Pathogenic | — |
| RS886041846 | Health Risk | Pathogenic | Severe feeding difficulties-failure to thrive-microcephaly due to ASXL3 deficiency syndrome, Severe feeding difficulties-failure to thrive-microcephaly due to ASXL3 deficiency syndrome |
| RS886043487 | Health Risk | Pathogenic | — |
| RS1060499602 | Health Risk | Pathogenic/Likely pathogenic | Severe feeding difficulties-failure to thrive-microcephaly due to ASXL3 deficiency syndrome, Intellectual disability, Severe feeding difficulties-failure to thrive-microcephaly due to ASXL3 deficiency syndrome |
| RS1131691668 | Health Risk | Pathogenic/Likely pathogenic | Severe feeding difficulties-failure to thrive-microcephaly due to ASXL3 deficiency syndrome, Severe feeding difficulties-failure to thrive-microcephaly due to ASXL3 deficiency syndrome |
| RS1555744282 | Health Risk | Pathogenic/Likely pathogenic | Inborn genetic diseases, Severe feeding difficulties-failure to thrive-microcephaly due to ASXL3 deficiency syndrome, Intellectual disability |
| RS1599563995 | Health Risk | Pathogenic/Likely pathogenic | Severe feeding difficulties-failure to thrive-microcephaly due to ASXL3 deficiency syndrome, Severe feeding difficulties-failure to thrive-microcephaly due to ASXL3 deficiency syndrome |
| RS1599570895 | Health Risk | Pathogenic/Likely pathogenic | Severe feeding difficulties-failure to thrive-microcephaly due to ASXL3 deficiency syndrome, Severe feeding difficulties-failure to thrive-microcephaly due to ASXL3 deficiency syndrome |
| RS1599573759 | Health Risk | Pathogenic/Likely pathogenic | Global developmental delay, Atypical behavior, Sleep disturbance |
| RS2067642748 | Health Risk | Pathogenic/Likely pathogenic | Severe feeding difficulties-failure to thrive-microcephaly due to ASXL3 deficiency syndrome, Severe feeding difficulties-failure to thrive-microcephaly due to ASXL3 deficiency syndrome |