Lissencephaly and Band Heterotopia

Gene: TP73

Green List (high evidence)

TP73 (tumor protein p73)
EnsemblGeneIds (GRCh38): ENSG00000078900
EnsemblGeneIds (GRCh37): ENSG00000078900
OMIM: 601990, Gene2Phenotype
TP73 is in 5 panels

2 reviews

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

Phenotypes
Ciliary dyskinesia, primary, 47, and lissencephaly, MIM#619466

Ee Ming Wong (Victorian Clinical Genetics Services)

Green List (high evidence)

- 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: Literature
Created: 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

8 Aug 2021, Gel status: 3

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

2 Aug 2021, Gel status: 3

Entity classified by Genomics England curator

Seb Lunke (Victorian Clinical Genetics Services)

Gene: tp73 has been classified as Green List (High Evidence).

2 Aug 2021, Gel status: 3

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

2 Aug 2021, Gel status: 3

Entity classified by Genomics England curator

Seb Lunke (Victorian Clinical Genetics Services)

Gene: tp73 has been classified as Green List (High Evidence).

2 Aug 2021, Gel status: 0

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