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Intellectual disability

Gene: TP73

Amber List (moderate evidence)

TP73 (tumor protein p73)
EnsemblGeneIds (GRCh38): ENSG00000078900
EnsemblGeneIds (GRCh37): ENSG00000078900
OMIM: 601990, Gene2Phenotype
TP73 is in 2 panels

2 reviews

Arina Puzriakova (Genomics England Curator)

Green List (high evidence)

Comment on list classification: There is now sufficient evidence to promote this gene to Green at the next GMS panel review - at least 7 unrelated families with distinct variants and relevant phenotypes. Supported by some functional data.

TP73 is also now associated with a relevant phenotype in OMIM (MIM# 619466) but is not yet listed in G2P.
Created: 21 Sep 2021, 2:09 p.m. | Last Modified: 21 Sep 2021, 2:09 p.m.
Panel Version: 3.1295
PMID: 34077761 (2021) - Further 7 individuals from 5 families identified with different homozygous variants in this gene. All affected individuals exhibited cortical malformations characterised by lissencephaly, central muscular hypotonia and moderate to severe cognitive dysfunction.
Created: 21 Sep 2021, 2:06 p.m. | Last Modified: 21 Sep 2021, 2:06 p.m.
Panel Version: 3.1294
Comment on list classification: Rating Red as gene only distinguished due to multiple hits in same candidate gene - patients display discordant phenotype and DD only reported in one patient.
Created: 27 Aug 2020, 3:06 p.m. | Last Modified: 27 Aug 2020, 3:06 p.m.
Panel Version: 3.272
PMID: 31130284 (2019) - Two individuals with homozygous variants in this gene identified as part of a large candidate gene discovery study. Phenotype in one patient included lissencephaly and hypotonia; while the other, a 19-month-old female, presented motor delay, speech delay, cleft lip and/or palate, cortical dysplasia, pachygyria, and strabismus.
Created: 27 Aug 2020, 3:04 p.m. | Last Modified: 27 Aug 2020, 3:04 p.m.
Panel Version: 3.271

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

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

Publications

Zornitza Stark (Australian Genomics)

Green List (high evidence)

New publication adds further evidence for gene-disease association, PMID 34077761:

- Seven individuals from five unrelated families homozygous for TP73 variants (includes 1x large deletion, 1x splice variant, 1x frameshift and 2x nonsense variants) and cortical malformations/ID
- 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
Created: 7 Aug 2021, 7:29 a.m. | Last Modified: 7 Aug 2021, 7:29 a.m.
Panel Version: 3.1216
Two unrelated families, no functional data.
Sources: Expert list
Created: 1 Mar 2020, 8:45 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Intellectual disability; lissencephaly

Publications

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
Phenotypes
  • Ciliary dyskinesia, primary, 47, and lissencephaly, OMIM:619466
Tags
Q3_21_rating
OMIM
601990
Clinvar variants
Variants in TP73
Penetrance
None
Publications
Panels with this gene

History Filter Activity

21 Sep 2021, Gel status: 2

Set publications

Arina Puzriakova (Genomics England Curator)

Publications for gene: TP73 were set to 31130284

21 Sep 2021, Gel status: 2

Entity classified by Genomics England curator

Arina Puzriakova (Genomics England Curator)

Gene: tp73 has been classified as Amber List (Moderate Evidence).

21 Sep 2021, Gel status: 1

Added Tag

Arina Puzriakova (Genomics England Curator)

Tag Q3_21_rating tag was added to gene: TP73.

21 Sep 2021, Gel status: 1

Set Phenotypes

Arina Puzriakova (Genomics England Curator)

Phenotypes for gene: TP73 were changed from Intellectual disability; lissencephaly to Ciliary dyskinesia, primary, 47, and lissencephaly, OMIM:619466

27 Aug 2020, Gel status: 1

Entity classified by Genomics England curator

Arina Puzriakova (Genomics England Curator)

Gene: tp73 has been classified as Red List (Low Evidence).

1 Mar 2020, Gel status: 0

Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes

Zornitza Stark (Australian Genomics)

gene: TP73 was added gene: TP73 was added to Intellectual disability. Sources: Expert list Mode of inheritance for gene: TP73 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: TP73 were set to 31130284 Phenotypes for gene: TP73 were set to Intellectual disability; lissencephaly Review for gene: TP73 was set to AMBER