Lissencephaly and Band Heterotopia
Gene: TP73EnsemblGeneIds (GRCh38): ENSG00000078900
EnsemblGeneIds (GRCh37): ENSG00000078900
OMIM: 601990, Gene2Phenotype
TP73 is in 5 panels
2 reviews
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)
Phenotypes
Ciliary dyskinesia, primary, 47, and lissencephaly, MIM#619466
Ee Ming Wong (Victorian Clinical Genetics Services)
- 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
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- Phenotypes
-
- Ciliary dyskinesia, primary, 47, and lissencephaly, MIM#619466
- brain malformation
- lissencephaly
- OMIM
- 601990
- Clinvar variants
- Variants in TP73
- Penetrance
- None
- Publications
- Panels with this gene
History Filter Activity
Set Phenotypes
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Phenotypes for gene: TP73 were changed from brain malformation; lissencephaly to Ciliary dyskinesia, primary, 47, and lissencephaly, MIM#619466; brain malformation; lissencephaly
Entity classified by Genomics England curator
Seb Lunke (Victorian Clinical Genetics Services)Gene: tp73 has been classified as Green List (High Evidence).
Set Phenotypes
Seb Lunke (Victorian Clinical Genetics Services)Phenotypes for gene: TP73 were changed from chronic airway disease; brain malformation; lissencephaly to brain malformation; lissencephaly
Entity classified by Genomics England curator
Seb Lunke (Victorian Clinical Genetics Services)Gene: tp73 has been classified as Green List (High Evidence).
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes
Ee Ming Wong (Victorian Clinical Genetics Services)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