Lissencephaly and Band Heterotopia
Gene: TP73
Phenotypes
Ciliary dyskinesia, primary, 47, and lissencephaly, MIM#619466
- Seven individuals from five unrelated families homozygous for TP73 variants (includes 1x large deletion, 1x splice variant, 1x frameshift and 2x nonsense variants)
- In vitro ciliogenesis experiments demonstrated that epithelial cells from TP73 variant carriers had reduced number of ciliated cells and shortened cilia resulting in abnormal ciliary clearance of the airways compared to healthy controls
Sources: LiteratureCreated: 2 Aug 2021, 5:56 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
chronic airway disease; brain malformation; lissencephaly
Publications
Variants in this GENE are reported as part of current diagnostic practice
Phenotypes for gene: TP73 were changed from brain malformation; lissencephaly to Ciliary dyskinesia, primary, 47, and lissencephaly, MIM#619466; brain malformation; lissencephaly
Gene: tp73 has been classified as Green List (High Evidence).
Phenotypes for gene: TP73 were changed from chronic airway disease; brain malformation; lissencephaly to brain malformation; lissencephaly
Gene: tp73 has been classified as Green List (High Evidence).
gene: TP73 was added gene: TP73 was added to Lissencephaly and Band Heterotopia. Sources: Literature Mode of inheritance for gene: TP73 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: TP73 were set to 34077761 Phenotypes for gene: TP73 were set to chronic airway disease; brain malformation; lissencephaly Review for gene: TP73 was set to GREEN gene: TP73 was marked as current diagnostic