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Intellectual disability

Gene: ADD3

Amber List (moderate evidence)

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

2 reviews

Arina Puzriakova (Genomics England Curator)

Green List (high evidence)

Comment on list classification: More than 3 unrelated individuals with ID. There is enough evidence for this gene to be rated GREEN at the next major review.
Created: 24 Jul 2020, 11:15 a.m. | Last Modified: 24 Jul 2020, 11:15 a.m.
Panel Version: 3.184
Biallelic missense variants identified in four families (ten affected patients). Not associated with any phenotype in G2P. OMIM entry currently based on PMID: 23836506.

PMID: 23836506 (2013) - Homozygous missense variant c.1100G>A (p.G367D). ADD3 first identified in a consanguineous Jordanian family affecting four members. ID severe in two individuals and moderate/borderline in the others, some functional work from fibroblasts. The paper focused on the main phenotype of inheritable cerebral palsy.

PMID: 29768408 (2018) - Two families with ADD3 biallelic variants and one family with ADD3 and KAT2B missense variants. Individuals with ADD3 variants have similar phenotypes and individuals with KAT2B variants have an extension to phenotype with impaired kidney and heart function, also demonstrated with functional evidence in flies. ID was reported in 5/6 participants.
Created: 24 Jul 2020, 11:08 a.m. | Last Modified: 24 Jul 2020, 11:10 a.m.
Panel Version: 3.183

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Cerebral palsy, spastic quadriplegic, 617008; Intellectual disability; Microcephaly

Publications

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
  • Expert Review Amber
Phenotypes
  • Cerebral palsy, spastic quadriplegic, 3, MIM#617008
Tags
for-review
OMIM
601568
Clinvar variants
Variants in ADD3
Penetrance
None
Publications
Panels with this gene

History Filter Activity

24 Jul 2020, Gel status: 2

Entity classified by Genomics England curator

Arina Puzriakova (Genomics England Curator)

Gene: add3 has been classified as Amber List (Moderate Evidence).

24 Jul 2020, Gel status: 0

Added Tag

Arina Puzriakova (Genomics England Curator)

Tag for-review tag was added to gene: ADD3.

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