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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

Cassandra Muller (Victorian Clinical Genetics Services)

Green List (high evidence)

Established gene-disease association, 4 families reported. Variable phenotype characterised by developmental delay and intellectual disability and short stature. Other characteristics may include failure to thrive, dysmoprhism, hypotonia,acquired microcephaly, hepatomegaly, and skeletal dysplasia.
Created: 5 Mar 2025, 6:14 a.m. | Last Modified: 5 Mar 2025, 6:14 a.m.
Panel Version: 1.1566

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Congenital disorder of glycosylation, type IIk, 614727 (3)

Publications

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Congenital disorder of glycosylation, type IIk, 614727 (3)
OMIM
614726
Clinvar variants
Variants in TMEM165
Penetrance
None
Panels with this gene

History Filter Activity

1 Jun 2022, Gel status: 3

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

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: TMEM165 was added gene: TMEM165 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,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 (3)