ADNP Chromosome 20

Activity dependent neuroprotector homeobox

181 variants 181 Health Risk

Upload your DNA to see your personal genotypes for variants in ADNP.

What This Gene Does

Vasoactive intestinal peptide is a neuroprotective factor that has a stimulatory effect on the growth of some tumor cells and an inhibitory effect on others. This gene encodes a protein that is upregulated by vasoactive intestinal peptide and may be involved in its stimulatory effect on certain tumor cells. The encoded protein contains one homeobox and nine zinc finger domains, suggesting that it functions as a transcription factor. This gene is also upregulated in normal proliferative tissues. Finally, the encoded protein may increase the viability of certain cell types through modulation of p53 activity. Alternatively spliced transcript variants encoding the same protein have been described. [provided by RefSeq, Jul 2008]

Gene Info

Gene Group

"Zinc fingers C2H2-type|ZF class homeoboxes and pseudogenes"

Locus Type

gene with protein product

Location

20q13.13

Ensembl

ENSG00000101126

Associated Conditions (13)

Inborn genetic diseases

ADNP-related disorder

ADNP-related multiple congenital anomalies - intellectual disability - autism spectrum disorder

See cases

Autism spectrum disorder

Neurodevelopmental delay

Intellectual disability

Autism

severe

intellectual deficiency

Global developmental delay

Neurodevelopmental disorder

8 conditions

Key Variants

RS1005810029

Conflicting classifications of pathogenicity

Inborn genetic diseases, Inborn genetic diseases

Health Risk

RS1055988910

Conflicting classifications of pathogenicity

Inborn genetic diseases, Inborn genetic diseases

Health Risk

RS1251589256

Conflicting classifications of pathogenicity

Health Risk

RS1279657093

Conflicting classifications of pathogenicity

Health Risk

RS1282824691

Conflicting classifications of pathogenicity

Inborn genetic diseases, Inborn genetic diseases

Health Risk

RS1392946940

Conflicting classifications of pathogenicity

Inborn genetic diseases, Inborn genetic diseases

Health Risk

RS140023121

Conflicting classifications of pathogenicity

Inborn genetic diseases, Inborn genetic diseases

Health Risk

RS1409671867

Conflicting classifications of pathogenicity

Health Risk

RS141535413

Conflicting classifications of pathogenicity

Inborn genetic diseases, Inborn genetic diseases

Health Risk

RS1421203572

Conflicting classifications of pathogenicity

Inborn genetic diseases, Inborn genetic diseases

Health Risk

RS1464452152

Conflicting classifications of pathogenicity

Health Risk

RS147299402

Conflicting classifications of pathogenicity

Health Risk

All Variants (181)

RSID	Category	Clinical Significance	Conditions
RS757859799	Health Risk	Conflicting classifications of pathogenicity	Inborn genetic diseases, Inborn genetic diseases
RS758610238	Health Risk	Conflicting classifications of pathogenicity	ADNP-related multiple congenital anomalies - intellectual disability - autism spectrum disorder, Inborn genetic diseases, ADNP-related multiple congenital anomalies - intellectual disability - autism spectrum disorder
RS760486899	Health Risk	Conflicting classifications of pathogenicity	—
RS761350619	Health Risk	Conflicting classifications of pathogenicity	ADNP-related multiple congenital anomalies - intellectual disability - autism spectrum disorder, ADNP-related multiple congenital anomalies - intellectual disability - autism spectrum disorder, ADNP-related multiple congenital anomalies - intellectual disability - autism spectrum disorder
RS764614303	Health Risk	Conflicting classifications of pathogenicity	ADNP-related multiple congenital anomalies - intellectual disability - autism spectrum disorder, Inborn genetic diseases, ADNP-related multiple congenital anomalies - intellectual disability - autism spectrum disorder
RS774543782	Health Risk	Conflicting classifications of pathogenicity	Inborn genetic diseases, Inborn genetic diseases
RS778193621	Health Risk	Conflicting classifications of pathogenicity	Inborn genetic diseases, Inborn genetic diseases
RS778969303	Health Risk	Conflicting classifications of pathogenicity	—
RS1221864735	Health Risk	Likely pathogenic	ADNP-related multiple congenital anomalies - intellectual disability - autism spectrum disorder, ADNP-related multiple congenital anomalies - intellectual disability - autism spectrum disorder
RS1555809337	Health Risk	Likely pathogenic	—
RS1555810163	Health Risk	Likely pathogenic	—
RS1555810193	Health Risk	Likely pathogenic	ADNP-related multiple congenital anomalies - intellectual disability - autism spectrum disorder, ADNP-related multiple congenital anomalies - intellectual disability - autism spectrum disorder
RS1555810376	Health Risk	Likely pathogenic	ADNP-related multiple congenital anomalies - intellectual disability - autism spectrum disorder, ADNP-related multiple congenital anomalies - intellectual disability - autism spectrum disorder
RS1555810401	Health Risk	Likely pathogenic	—
RS1555812161	Health Risk	Likely pathogenic	Inborn genetic diseases, ADNP-related multiple congenital anomalies - intellectual disability - autism spectrum disorder, Inborn genetic diseases
RS1555812474	Health Risk	Likely pathogenic	—
RS1600932676	Health Risk	Likely pathogenic	ADNP-related multiple congenital anomalies - intellectual disability - autism spectrum disorder, ADNP-related multiple congenital anomalies - intellectual disability - autism spectrum disorder
RS1980761409	Health Risk	Likely pathogenic	—
RS1980763449	Health Risk	Likely pathogenic	ADNP-related multiple congenital anomalies - intellectual disability - autism spectrum disorder, ADNP-related multiple congenital anomalies - intellectual disability - autism spectrum disorder
RS1980878343	Health Risk	Likely pathogenic	Autism spectrum disorder, Autism spectrum disorder
RS1980913274	Health Risk	Likely pathogenic	ADNP-related multiple congenital anomalies - intellectual disability - autism spectrum disorder, ADNP-related multiple congenital anomalies - intellectual disability - autism spectrum disorder
RS1981065982	Health Risk	Likely pathogenic	ADNP-related multiple congenital anomalies - intellectual disability - autism spectrum disorder, ADNP-related multiple congenital anomalies - intellectual disability - autism spectrum disorder
RS1981116316	Health Risk	Likely pathogenic	ADNP-related multiple congenital anomalies - intellectual disability - autism spectrum disorder, ADNP-related multiple congenital anomalies - intellectual disability - autism spectrum disorder
RS2122740067	Health Risk	Likely pathogenic	See cases, ADNP-related multiple congenital anomalies - intellectual disability - autism spectrum disorder, See cases
RS2122746369	Health Risk	Likely pathogenic	ADNP-related multiple congenital anomalies - intellectual disability - autism spectrum disorder, ADNP-related multiple congenital anomalies - intellectual disability - autism spectrum disorder
RS2122747616	Health Risk	Likely pathogenic	ADNP-related multiple congenital anomalies - intellectual disability - autism spectrum disorder, ADNP-related multiple congenital anomalies - intellectual disability - autism spectrum disorder
RS2122753883	Health Risk	Likely pathogenic	ADNP-related multiple congenital anomalies - intellectual disability - autism spectrum disorder, ADNP-related multiple congenital anomalies - intellectual disability - autism spectrum disorder
RS2122764752	Health Risk	Likely pathogenic	ADNP-related multiple congenital anomalies - intellectual disability - autism spectrum disorder, ADNP-related multiple congenital anomalies - intellectual disability - autism spectrum disorder
RS2122826639	Health Risk	Likely pathogenic	Neurodevelopmental delay, Neurodevelopmental delay
RS2515578225	Health Risk	Likely pathogenic	ADNP-related multiple congenital anomalies - intellectual disability - autism spectrum disorder, ADNP-related multiple congenital anomalies - intellectual disability - autism spectrum disorder
RS2515578989	Health Risk	Likely pathogenic	ADNP-related multiple congenital anomalies - intellectual disability - autism spectrum disorder, ADNP-related multiple congenital anomalies - intellectual disability - autism spectrum disorder
RS2515579840	Health Risk	Likely pathogenic	ADNP-related multiple congenital anomalies - intellectual disability - autism spectrum disorder, ADNP-related multiple congenital anomalies - intellectual disability - autism spectrum disorder
RS2515579984	Health Risk	Likely pathogenic	ADNP-related multiple congenital anomalies - intellectual disability - autism spectrum disorder, ADNP-related multiple congenital anomalies - intellectual disability - autism spectrum disorder
RS2515581500	Health Risk	Likely pathogenic	ADNP-related multiple congenital anomalies - intellectual disability - autism spectrum disorder, ADNP-related multiple congenital anomalies - intellectual disability - autism spectrum disorder
RS2515585029	Health Risk	Likely pathogenic	—
RS2515589298	Health Risk	Likely pathogenic	ADNP-related multiple congenital anomalies - intellectual disability - autism spectrum disorder, ADNP-related multiple congenital anomalies - intellectual disability - autism spectrum disorder
RS2515591866	Health Risk	Likely pathogenic	ADNP-related multiple congenital anomalies - intellectual disability - autism spectrum disorder, ADNP-related multiple congenital anomalies - intellectual disability - autism spectrum disorder
RS2515592600	Health Risk	Likely pathogenic	ADNP-related multiple congenital anomalies - intellectual disability - autism spectrum disorder, ADNP-related multiple congenital anomalies - intellectual disability - autism spectrum disorder
RS2515593126	Health Risk	Likely pathogenic	ADNP-related disorder, ADNP-related disorder
RS2535299208	Health Risk	Likely pathogenic	—
RS1057518345	Health Risk	Pathogenic	Inborn genetic diseases, ADNP-related multiple congenital anomalies - intellectual disability - autism spectrum disorder, Inborn genetic diseases
RS1057518978	Health Risk	Pathogenic	ADNP-related multiple congenital anomalies - intellectual disability - autism spectrum disorder, ADNP-related multiple congenital anomalies - intellectual disability - autism spectrum disorder
RS1064793677	Health Risk	Pathogenic	—
RS1064796339	Health Risk	Pathogenic	—
RS1064796656	Health Risk	Pathogenic	ADNP-related multiple congenital anomalies - intellectual disability - autism spectrum disorder, ADNP-related multiple congenital anomalies - intellectual disability - autism spectrum disorder
RS1131691281	Health Risk	Pathogenic	—
RS1131691770	Health Risk	Pathogenic	—
RS1135401791	Health Risk	Pathogenic	ADNP-related multiple congenital anomalies - intellectual disability - autism spectrum disorder, ADNP-related multiple congenital anomalies - intellectual disability - autism spectrum disorder
RS1555809836	Health Risk	Pathogenic	Inborn genetic diseases, Inborn genetic diseases, Inborn genetic diseases
RS1555809919	Health Risk	Pathogenic	Inborn genetic diseases, ADNP-related multiple congenital anomalies - intellectual disability - autism spectrum disorder, Inborn genetic diseases

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