Fetal anomalies
Gene: TECPR2

TECPR2 (tectonin beta-propeller repeat containing 2)
EnsemblGeneIds (GRCh38): ENSG00000196663
EnsemblGeneIds (GRCh37): ENSG00000196663
OMIM: 615000, Gene2Phenotype
TECPR2 is in 10 panels

1 review

Rebecca Foulger (Genomics England curator)

I don't know

DDG2P rating in original PAGE list: Probable for HEREDITARY SPASTIC PARAPARESIS
Created: 11 Dec 2018, 9:05 a.m.

Created: 11 Dec 2018, 9:05 a.m.

Panel version: 0.9

Details

Mode of Inheritance

BIALLELIC, autosomal or pseudoautosomal

Sources

Expert Review Amber
PAGE DD-Gene2Phenotype

Phenotypes

HEREDITARY SPASTIC PARAPARESIS

OMIM

615000

Clinvar variants

Variants in TECPR2

Penetrance

None

Panels with this gene

History Filter Activity

8 Nov 2018, Gel status: 2

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

Rebecca Foulger (Genomics England curator)

gene: TECPR2 was added gene: TECPR2 was added to Fetal anomalies. Sources: PAGE DD-Gene2Phenotype,Expert Review Amber Mode of inheritance for gene: TECPR2 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: TECPR2 were set to HEREDITARY SPASTIC PARAPARESIS

Fetal anomalies Gene: TECPR2