ADD3

adducin 3
OMIM: 601568, Gene2Phenotype

6 panels

Panel Reviews Mode of inheritance Details
6 panels

Amber ADD3 in Cataract


Level 2: Ophthalmological disorders
Version 0.366

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Literature
Phenotypes
  • Cerebral palsy, spastic quadriplegic, 3 617008

Green ADD3 in Cerebral Palsy


Level 2: Neurology and neurodevelopmental disorders
Version 1.356

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert Review
Phenotypes
  • Cerebral palsy, spastic quadriplegic, 3 617008

Green ADD3 in Mendeliome


Version 1.1891

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert list
Phenotypes
  • Cerebral palsy, spastic quadriplegic, 3, MIM#617008

Amber ADD3 in Microcephaly


Level 2: Dysmorphic and congenital abnormality syndromes
Version 1.269

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Literature
Phenotypes
  • Cerebral palsy, spastic quadriplegic, 3 617008

Green ADD3 in Intellectual disability syndromic and non-syndromic


Level 2: Neurology and neurodevelopmental disorders
Version 0.6063

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Genetic Health Queensland
Phenotypes
  • Cerebral palsy, spastic quadriplegic, 3, MIM#617008

Red ADD3 in Fetal anomalies


Version 1.255

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Literature
Phenotypes
  • Cerebral palsy, spastic quadriplegic, 3 MIM#617008