ARID3A

AT-rich interaction domain 3A
OMIM: 603265, ClinGen, DECIPHER

3 panels

Panel Reviews Mode of inheritance Details
3 panels

Amber ARID3A in Congenital anomalies of the kidney and urinary tract (CAKUT)


Level 2: Renal and urinary tract disorders
Version 1.0

1 review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Literature
  • Expert Review Amber
  • Literature
Phenotypes
  • Congenital anomaly of kidney and urinary tract, MONDO:0019719, ARID3A-related

Amber ARID3A in Mendeliome


Version 2.0

2 reviews MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Amber
  • Literature
Phenotypes
  • Congenital anomaly of kidney and urinary tract, MONDO:0019719, ARID3A-related
  • Cornelia de Lange syndrome - MONDO:0016033

Red ARID3A in Intellectual disability syndromic and non-syndromic


Level 2: Neurology and neurodevelopmental disorders
Version 2.0

1 review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Red
  • Literature
Phenotypes
  • Cornelia de Lange syndrome - MONDO:0016033