Clefting
Gene: ADNP

ADNP (activity dependent neuroprotector homeobox)
EnsemblGeneIds (GRCh38): ENSG00000101126
EnsemblGeneIds (GRCh37): ENSG00000101126
OMIM: 611386, Gene2Phenotype
ADNP is in 4 panels

1 review

Achchuthan Shanmugasundram (Genomics England Curator)

Red List (low evidence)

Cleft lip/ palate has only been reported rarely in patients identified with monoallelic variants in ADNP gene.

PMID:29724491 - One child from a worldwide cohort of 78 individuals with variants in ADNP gene had submucous cleft palate.

DECIPHER database - Of 66 patients identified with heterozygous sequence variants in ADNP gene, one each (three in total) was reported with cleft soft palate, submucous cleft hard palate and submucous cleft lip.
Sources: Literature
Created: 23 Jun 2023, 9:20 a.m. | Last Modified: 23 Jun 2023, 9:21 a.m.

Panel Version: 4.56

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Helsmoortel-van der Aa syndrome, OMIM:615873

Publications

Created: 23 Jun 2023, 9:20 a.m.
Last Modified: 23 Jun 2023, 9:21 a.m.
Panel version: 4.56

Details

Mode of Inheritance

MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Sources

Literature

Phenotypes

Helsmoortel-van der Aa syndrome, OMIM:615873

OMIM

611386

Clinvar variants

Variants in ADNP

Penetrance

None

Publications

Panels with this gene

History Filter Activity

23 Jun 2023, Gel status: 1

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

Achchuthan Shanmugasundram (Genomics England Curator)

gene: ADNP was added gene: ADNP was added to Clefting. Sources: Literature Mode of inheritance for gene: ADNP was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: ADNP were set to 29724491; 37010288 Phenotypes for gene: ADNP were set to Helsmoortel-van der Aa syndrome, OMIM:615873 Review for gene: ADNP was set to RED

Clefting Gene: ADNP