Respiratory ciliopathies including non-CF bronchiectasis

Gene: TP73

Green List (high evidence)

The rating of this gene has been updated to green and the mode of inheritance set to BIALLELIC, autosomal or pseudoautosomal following NHS Genomic Medicine Service approval.

Created: 11 Dec 2025, 4:33 p.m. | Last Modified: 11 Dec 2025, 4:33 p.m.

Panel Version: 4.50

Green List (high evidence)

Comment on list classification: There is sufficient evidence available for the promotion of this gene to green rating in the next GMS update.

Created: 4 Jul 2025, 1:41 p.m. | Last Modified: 4 Jul 2025, 1:41 p.m.

Panel Version: 4.14

The ClinGen Motile Ciliopathy expert panel has classified the association of TP73 gene to ciliary dyskinesia, primary, 47, and lissencephaly (MONDO:0030346) as 'Strong'. More information can be found in https://search.clinicalgenome.org/CCID:006420.

PMID:34077761 - Five different homozygous loss-of-function variants in TP73 gene have been reported in seven individuals from five unrelated families. They presented with a chronic airway disease, and brain malformation consistent with lissencephaly. Respiratory distress syndrome and recurrent respiratory infections have been reported in five and six patients respectively. There is also some experimental evidence available.

This gene has been associated with relevant phenotypes in both OMIM (MIM #619466) and Gene2Phenotype (with 'strong' rating on the DD panel).
Sources: Literature

Created: 4 Jul 2025, 1:40 p.m. | Last Modified: 17 Jul 2025, 1:58 p.m.

Panel Version: 4.41

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Ciliary dyskinesia, primary, 47, and lissencephaly, OMIM:619466

Publications

• 34077761