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  2. GMS Musculoskeletal specialist test group Skeletal dysplasia
  3. TMEM165
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GMS Musculoskeletal specialist test group Skeletal dysplasia

Gene: TMEM165

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

1 review

Tracy Lester (Genetics laboratory, Oxford UK)

Green List (high evidence)

green - 4 mutations on HGMD; Review on behalf of Tracy Lester/Michael Oldridge
Created: 6 Mar 2019, 11:52 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Congenital disorder of glycosylation, type IIk 614727

Created: 6 Mar 2019, 11:52 a.m.

Panel version: 0.2

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • NHS GMS
Phenotypes
  • Congenital disorder of glycosylation, type IIk 614727
OMIM
614726
Clinvar variants
Variants in TMEM165
Penetrance
None
Panels with this gene

History Filter Activity

6 Mar 2019, Gel status: 4

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

Eleanor Williams (Genomics England Curator)

gene: TMEM165 was added gene: TMEM165 was added to GMS Musculoskeletal specialist test group Skeletal dysplasia. Sources: NHS GMS,Expert Review Green Mode of inheritance for gene: TMEM165 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: TMEM165 were set to Congenital disorder of glycosylation, type IIk 614727