Cerebral Palsy
Gene: ADNPEnsemblGeneIds (GRCh38): ENSG00000101126
EnsemblGeneIds (GRCh37): ENSG00000101126
OMIM: 611386, Gene2Phenotype
ADNP is in 6 panels
1 review
Luisa Weiss (University of Adelaide)
In addition to the previous cases, there is one case report of a boy with the full phenotypic picture of Helsmoortel-van der Aa syndrome and hypotonic cerebral palsy. Note that hypotonia is one feature of Helsmoortel-van der Aa syndrome, but hypotonic cerebral palsy seems to be rare.Created: 8 Aug 2023, 5:03 a.m. | Last Modified: 8 Aug 2023, 5:03 a.m.
Panel Version: 1.185
Large cohort study of cerebral palsy cases identified two variants in two individual patients with CP. One mutation was a recurrent Helsmoortel-van der Aa-syndrome nonsense mutation, the other was a de novo frameshift mutation. No further information about the patient's phenotype was given.
Sources: LiteratureCreated: 22 May 2023, 3:06 a.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Helsmoortel-van der Aa syndrome MIM#615873
Publications
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
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: adnp has been classified as Green List (High Evidence).
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: adnp has been classified as Amber List (Moderate Evidence).
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: adnp has been classified as Amber List (Moderate Evidence).
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes
Luisa Weiss (University of Adelaide)gene: ADNP was added gene: ADNP was added to Cerebral Palsy. Sources: Literature Mode of inheritance for gene: ADNP was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: ADNP were set to 33528536 Phenotypes for gene: ADNP were set to Helsmoortel-van der Aa syndrome MIM#615873 Review for gene: ADNP was set to AMBER