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BabyScreen+ newborn screening

Gene: TMEM165

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

2 reviews

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

I don't know

Improvement in biochemical parameters in two individuals -- insufficient evidence for treatability.
Created: 23 Mar 2023, 7:57 a.m. | Last Modified: 23 Mar 2023, 7:57 a.m.
Panel Version: 0.2054

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Congenital disorder of glycosylation, type IIk MIM#614727

Created: 23 Mar 2023, 7:57 a.m.
Last Modified: 23 Mar 2023, 7:57 a.m.
Panel version: 0.2054

Lilian Downie (Victorian Clinical Genetics Services)

I don't know

Affected individuals show psychomotor retardation and growth retardation, and most have short stature. Other features include dysmorphism, hypotonia, eye abnormalities, acquired microcephaly, hepatomegaly, and skeletal dysplasia. Serum transferrin analysis shows a CDG type II pattern

Rx D-galactose (single paper, 2 unrelated patients and an in vitro study) ?inadequete evidence for treatment? Might need to check with JC if we would offer it maybe include
Sources: Expert list
Created: 23 Mar 2023, 4:08 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Congenital disorder of glycosylation, type IIk MIM#614727

Publications

Created: 23 Mar 2023, 4:08 a.m.

Panel version: 0.2052

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Expert list
Phenotypes
  • Congenital disorder of glycosylation, type IIk MIM#614727
Tags
metabolic
OMIM
614726
Clinvar variants
Variants in TMEM165
Penetrance
None
Publications
Panels with this gene

History Filter Activity

23 Mar 2023, Gel status: 2

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: tmem165 has been classified as Amber List (Moderate Evidence).

23 Mar 2023, Gel status: 2

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: tmem165 has been classified as Amber List (Moderate Evidence).

23 Mar 2023, Gel status: 0

Added Tag

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Tag metabolic tag was added to gene: TMEM165.

23 Mar 2023, Gel status: 0

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

Lilian Downie (Victorian Clinical Genetics Services)

gene: TMEM165 was added gene: TMEM165 was added to Baby Screen+ newborn screening. Sources: Expert list Mode of inheritance for gene: TMEM165 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: TMEM165 were set to PMID: 28323990, PMID: 35693943, PMID: 22683087 Phenotypes for gene: TMEM165 were set to Congenital disorder of glycosylation, type IIk MIM#614727 Review for gene: TMEM165 was set to AMBER