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  3. ADD3
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Microcephaly

Gene: ADD3

Amber List (moderate evidence)
ADD3 (adducin 3)
EnsemblGeneIds (GRCh38): ENSG00000148700
EnsemblGeneIds (GRCh37): ENSG00000148700
OMIM: 601568, Gene2Phenotype
ADD3 is in 6 panels

2 reviews

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Comment when marking as ready: Microcephaly is borderline.
Created: 6 Jul 2020, 4:51 a.m. | Last Modified: 6 Jul 2020, 4:51 a.m.
Panel Version: 0.136
Created: 6 Jul 2020, 4:51 a.m.
Last Modified: 6 Jul 2020, 4:51 a.m.
Panel version: 0.136

Elena Savva (Victorian Clinical Genetics Services)

Green List (high evidence)

PMID: 29768408;23836506 - 9/10 patients (4 families) with borderline microcephaly
Sources: Literature
Created: 6 Jul 2020, 1:28 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Cerebral palsy, spastic quadriplegic, 3 617008

Publications

Created: 6 Jul 2020, 1:28 a.m.

Panel version: 0.135

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Literature
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: 2

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

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

6 Jul 2020, Gel status: 2

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

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

6 Jul 2020, Gel status: 2

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

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

6 Jul 2020, Gel status: 0

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

Elena Savva (Victorian Clinical Genetics Services)

gene: ADD3 was added gene: ADD3 was added to Microcephaly. Sources: Literature Mode of inheritance for gene: ADD3 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: ADD3 were set to PMID: 23836506; 29768408 Phenotypes for gene: ADD3 were set to Cerebral palsy, spastic quadriplegic, 3 617008 Review for gene: ADD3 was set to GREEN