Combined Immunodeficiency
Gene: TERT

TERT (telomerase reverse transcriptase)
EnsemblGeneIds (GRCh38): ENSG00000164362
EnsemblGeneIds (GRCh37): ENSG00000164362
OMIM: 187270, Gene2Phenotype
TERT is in 12 panels

2 reviews

Bryony Thompson (Royal Melbourne Hospital)

I don't know

A case with a homozygous missense variant reported with a clinical diagnosis of combined immunodeficiency
Created: 30 Jul 2020, 4:40 a.m. | Last Modified: 30 Jul 2020, 4:40 a.m.

Panel Version: 0.161

Mode of inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal

Phenotypes
Dyskeratosis congenita with Variable lymphocyte numbers

Publications

32499645

Created: 30 Jul 2020, 4:40 a.m.
Last Modified: 30 Jul 2020, 4:40 a.m.
Panel version: 0.161

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

I don't know

Immunodeficiency is not a common feature.
Created: 11 Apr 2020, 11:04 a.m. | Last Modified: 11 Apr 2020, 11:04 a.m.

Panel Version: 0.138

Mode of inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal

Phenotypes
{Dyskeratosis congenita, autosomal dominant 2}, MIM# 613989; {Dyskeratosis congenita, autosomal recessive 4}, MIM# 613989

Created: 11 Apr 2020, 11:04 a.m.
Last Modified: 11 Apr 2020, 11:04 a.m.
Panel version: 0.138

Details

Mode of Inheritance

BOTH monoallelic and biallelic, autosomal or pseudoautosomal

Sources

Expert Review Amber
Melbourne Genomics Health Alliance Immunology Flagship
Victorian Clinical Genetics Services

Phenotypes

{Dyskeratosis congenita, autosomal dominant 2}, MIM# 613989
{Dyskeratosis congenita, autosomal recessive 4}, MIM# 613989

OMIM

187270

Clinvar variants

Variants in TERT

Penetrance

None

Panels with this gene