TP73

tumor protein p73
OMIM: 601990, ClinGen, DECIPHER

5 panels

Panel Reviews Mode of inheritance Details
5 panels

Green TP73 in Lissencephaly and Band Heterotopia


Level 2: Neurology and neurodevelopmental disorders
Version 2.0

2 reviews BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Ciliary dyskinesia, primary, 47, and lissencephaly, MIM#619466
  • brain malformation
  • lissencephaly

Green TP73 in Ciliary Dyskinesia


Level 2: Respiratory disorders
Version 2.0

1 review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Ciliary dyskinesia, primary, 47, and lissencephaly, MIM#619466

Green TP73 in Mendeliome


Version 2.0

3 reviews BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Ciliary dyskinesia, primary, 47, and lissencephaly, MIM#619466
  • Cortical malformation
  • Lissencephaly

Green TP73 in Intellectual disability syndromic and non-syndromic


Level 2: Neurology and neurodevelopmental disorders
Version 2.0

1 review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Ciliary dyskinesia, primary, 47, and lissencephaly, MIM#619466
  • Intellectual disability
  • lissencephaly

Green TP73 in Fetal anomalies


Version 2.0

1 review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Ciliary dyskinesia, primary, 47, and lissencephaly - MIM# 619466