1. Panels
  2. Genetic Epilepsy
  3. ADNP
Genes in panel
Prev Next
STRs in panel
Prev Next
Regions in panel
Prev Next

Genetic Epilepsy

Gene: ADNP

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

1 review

John Coleman (Murdoch Children's Research Institute)

Green List (high evidence)

ADNP related disorders. Review paper showing 12 of 78 patient cohort with seizures of various types - focal, absence. Other features: hypotonia, developmental delay, mild-to-severe intellectual disability, facial dysmorphic features, behavioral problems, sleep disturbance, brain abnormalities, feeding issues, gastrointestinal problems, visual dysfunction, musculoskeletal anomalies, endocrine issues including short stature and hormonal deficiencies, cardiac and urinary tract anomalies & hearing loss. An older cohort showed 2 of 10 individuals with seizures. Seizures is not the predominant phenotype but a feature in some cases.
Sources: Literature, Expert Review
Created: 4 Dec 2023, 12:47 a.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Seizures; Epilpesy; Focal Seizures; Absence seizures

Publications

Created: 4 Dec 2023, 12:47 a.m.

Panel version: 0.1950

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
Phenotypes
  • Helsmoortel-van der Aa syndrome MIM#615873
OMIM
611386
Clinvar variants
Variants in ADNP
Penetrance
None
Publications
Panels with this gene

History Filter Activity

4 Dec 2023, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: adnp has been classified as Green List (High Evidence).

4 Dec 2023, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: ADNP were changed from Seizures; Epilpesy; Focal Seizures; Absence seizures to Helsmoortel-van der Aa syndrome MIM#615873

4 Dec 2023, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: adnp has been classified as Green List (High Evidence).

4 Dec 2023, Gel status: 0

Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes

John Coleman (Murdoch Children's Research Institute)

gene: ADNP was added gene: ADNP was added to Genetic Epilepsy. Sources: Literature,Expert Review Mode of inheritance for gene: ADNP was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: ADNP were set to (PMID: 27054228; 24531329) Phenotypes for gene: ADNP were set to Seizures; Epilpesy; Focal Seizures; Absence seizures Review for gene: ADNP was set to GREEN