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Intellectual disability

Gene: TP73

No list

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

1 review

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

History Filter Activity

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