Cerebral Palsy
Gene: ADD3
ADD3 (adducin 3)
EnsemblGeneIds (GRCh38): ENSG00000148700
EnsemblGeneIds (GRCh37): ENSG00000148700
OMIM: 601568, Gene2Phenotype
ADD3 is in 6 panels
EnsemblGeneIds (GRCh38): ENSG00000148700
EnsemblGeneIds (GRCh37): ENSG00000148700
OMIM: 601568, Gene2Phenotype
ADD3 is in 6 panels
1 review
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)
Four families reported.
Sources: Expert ReviewCreated: 6 Jul 2020, 4:51 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Cerebral palsy, spastic quadriplegic, 3 617008
Publications
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- Expert Review
- Phenotypes
-
- Cerebral palsy, spastic quadriplegic, 3 617008
- OMIM
- 601568
- Clinvar variants
- Variants in ADD3
- Penetrance
- None
- Publications
- Panels with this gene
History Filter Activity
6 Jul 2020, Gel status: 3
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: add3 has been classified as Green List (High Evidence).
6 Jul 2020, Gel status: 3
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: add3 has been classified as Green List (High Evidence).
6 Jul 2020, Gel status: 1
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)gene: ADD3 was added gene: ADD3 was added to Cerebral Palsy. Sources: Expert Review Mode of inheritance for gene: ADD3 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: ADD3 were set to 23836506; 29768408 Phenotypes for gene: ADD3 were set to Cerebral palsy, spastic quadriplegic, 3 617008 Review for gene: ADD3 was set to GREEN