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Intellectual disability

Gene: ADD3

No list

ADD3 (adducin 3)
EnsemblGeneIds (GRCh38): ENSG00000148700
EnsemblGeneIds (GRCh37): ENSG00000148700
OMIM: 601568, Gene2Phenotype
ADD3 is in 3 panels

1 review

Zornitza Stark (Australian Genomics)

Green List (high evidence)

Four families reported in the literature with bi-allelic variants in this gene causing intellectual disability.
Sources: Expert list
Created: 27 Jan 2020, 5:11 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Cerebral palsy, spastic quadriplegic, 3, MIM#617008

Publications

Variants in this GENE are reported as part of current diagnostic practice

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
Phenotypes
  • Cerebral palsy, spastic quadriplegic, 3, MIM#617008
OMIM
601568
Clinvar variants
Variants in ADD3
Penetrance
None
Publications
Panels with this gene

History Filter Activity

27 Jan 2020, Gel status: 0

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

Zornitza Stark (Australian Genomics)

gene: ADD3 was added gene: ADD3 was added to Intellectual disability. Sources: Expert list Mode of inheritance for gene: ADD3 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: ADD3 were set to 29768408; 23836506 Phenotypes for gene: ADD3 were set to Cerebral palsy, spastic quadriplegic, 3, MIM#617008 Review for gene: ADD3 was set to GREEN gene: ADD3 was marked as current diagnostic