Congenital Disorders of Glycosylation
Gene: TMEM165

TMEM165 (transmembrane protein 165)
EnsemblGeneIds (GRCh38): ENSG00000134851
EnsemblGeneIds (GRCh37): ENSG00000134851
OMIM: 614726, Gene2Phenotype
TMEM165 is in 9 panels

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

CDG2K is an autosomal recessive disorder with a variable phenotype, characterised by DD/ID and growth retardation/short stature. Other features include dysmorphism, hypotonia, eye abnormalities, acquired microcephaly, hepatomegaly, and skeletal dysplasia. Serum transferrin analysis shows a CDG type II pattern. More than 5 unrelated families reported, functional data.
Created: 21 Dec 2020, 11:59 p.m. | Last Modified: 21 Dec 2020, 11:59 p.m.

Panel Version: 0.358

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Congenital disorder of glycosylation, type IIk, MIM# 614727; TMEM165-CDG, MONDO:0013870

Publications

Created: 21 Dec 2020, 11:59 p.m.
Last Modified: 21 Dec 2020, 11:59 p.m.
Panel version: 0.358

Details

Mode of Inheritance

BIALLELIC, autosomal or pseudoautosomal

Sources

Expert Review Green
Victorian Clinical Genetics Services

Phenotypes

Congenital disorder of glycosylation, type IIk, MIM# 614727
TMEM165-CDG, MONDO:0013870

OMIM

614726

Clinvar variants

Variants in TMEM165

Penetrance

None

Publications

Panels with this gene