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  2. Likely inborn error of metabolism
  3. TMEM165
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Likely inborn error of metabolism

Gene: TMEM165

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

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Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • London North GLH
  • NHS GMS
  • Expert Review Green
Phenotypes
  • Congenital disorder of glycosylation, type IIk 614727
  • CDG2K (other congenital disorders of glycosylation)
OMIM
614726
Clinvar variants
Variants in TMEM165
Penetrance
None
Publications
Panels with this gene

History Filter Activity

13 Feb 2019, Gel status: 4

Added New Source, Added New Source

Ivone Leong (Genomics England Curator)

Source NHS GMS was added to TMEM165. Source London North GLH was added to TMEM165.

8 Jan 2019, Gel status: 4

Panel promoted to version 1.0

Ellen McDonagh (Genomics England Curator)

Ellen McDonagh: Comment on mode of pathogenici

16 Dec 2018, Gel status: 4

Set Phenotypes, Set publications

Ellen McDonagh (Genomics England Curator)

Added phenotypes Congenital disorder of glycosylation, type IIk 614727; CDG2K (other congenital disorders of glycosylation) for gene: TMEM165 Publications for gene TMEM165 were changed from 22683087; 27401145 to 27604308

16 Dec 2018, Gel status: 4

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

Ellen McDonagh (Genomics England Curator)

gene: TMEM165 was added gene: TMEM165 was added to Inborn errors of metabolism. Sources: Expert Review Green Mode of inheritance for gene: TMEM165 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: TMEM165 were set to 22683087; 27401145 Phenotypes for gene: TMEM165 were set to Congenital disorder of glycosylation, type IIk 614727