Autism
Gene: ADNP

ADNP (activity dependent neuroprotector homeobox)
EnsemblGeneIds (GRCh38): ENSG00000101126
EnsemblGeneIds (GRCh37): ENSG00000101126
OMIM: 611386, Gene2Phenotype
ADNP is in 6 panels

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

Helsmoortel-Van der Aa syndrome (HVDAS) is a neurodevelopmental disorder characterized by impaired intellectual development/motor delay, autism spectrum disorder, facial dysmorphisms, hypotonia, congenital heart disease, visual difficulties, and gastrointestinal issues. Over 100 unrelated individuals reported.
Created: 28 May 2021, 7:37 a.m. | Last Modified: 28 May 2021, 7:37 a.m.

Panel Version: 0.142

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Helsmoortel-van der Aa syndrome MIM#615873; MONDO:0014379

Publications

Created: 28 May 2021, 7:37 a.m.
Last Modified: 28 May 2021, 7:37 a.m.
Panel version: 0.142

Details

Mode of Inheritance

MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Sources

Expert Review Green
Victorian Clinical Genetics Services

Phenotypes

Helsmoortel-van der Aa syndrome MIM#615873
MONDO:0014379

OMIM

611386

Clinvar variants

Variants in ADNP

Penetrance

None

Publications

Panels with this gene