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Intellectual disability

Gene: TP73

Red List (low evidence)

TP73 (tumor protein p73)
EnsemblGeneIds (GRCh38): ENSG00000078900
EnsemblGeneIds (GRCh37): ENSG00000078900
OMIM: 601990, Gene2Phenotype
TP73 is in 1 panel

2 reviews

Arina Puzriakova (Genomics England Curator)

Red List (low evidence)

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

Publications

Zornitza Stark (Australian Genomics)

I don't know

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 Red
Phenotypes
  • Intellectual disability
  • lissencephaly
OMIM
601990
Clinvar variants
Variants in TP73
Penetrance
None
Publications
Panels with this gene

History Filter Activity

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