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Severe Paediatric Disorders

Gene: TMEM165

Green List (high evidence)

TMEM165 (transmembrane protein 165)
EnsemblGeneIds (GRCh38): ENSG00000134851
EnsemblGeneIds (GRCh37): ENSG00000134851
OMIM: 614726, Gene2Phenotype
TMEM165 is in 10 panels

1 review

Louise Daugherty (Genomics England Curator)

I don't know

Initial gene list (NGC_genelist-20190823_GREEN_dis_moi_forCuration_20200211.xlsx) collated by Dr Courtney French (University of Cambridge University Hospital NHS Foundation), Dr Karyn Megy (Clinical Feedback Lead, NIHR BioResource - Rare Diseases Study, University of Cambridge University Hospital NHS Foundation), Dr Alba Sanchis-Juan (NIHR BioResource - Rare Diseases Study, University of Cambridge University Hospital NHS Foundation) and Lucy Raymond (Professor of Medical Genetics and Neurodevelopment, University of Cambridge University Hospital NHS Foundation). Submitted to the PanelApp resource January 2020 on behalf of the Next Generation Children Project, Addenbrookes' Hospital, Cambridge. Gene Symbol submitted: TMEM165; Recommended initial gene rating: Green List (high evidence); Phenotypes: Congenital disorder of glycosylation, type IIk, 614727 (3); Mode of inheritance: Autosomal recessive
Created: 20 Feb 2020, 5:26 p.m. | Last Modified: 20 Feb 2020, 5:26 p.m.
Panel Version: 0.12

Details

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

History Filter Activity

20 Feb 2020, Gel status: 3

Set publications

Louise Daugherty (Genomics England Curator)

Publications for gene TMEM165 were updated from to 30847515

20 Feb 2020, Gel status: 3

Set Phenotypes

Louise Daugherty (Genomics England Curator)

Added phenotypes Congenital disorder of glycosylation, type IIk, 614727 for gene: TMEM165

20 Feb 2020, Gel status: 3

Set Phenotypes

Louise Daugherty (Genomics England Curator)

Added phenotypes Congenital disorder of glycosylation, type IIk, 614727 for gene: TMEM165

20 Feb 2020, Gel status: 3

Set Phenotypes

Louise Daugherty (Genomics England Curator)

Added phenotypes Congenital disorder of glycosylation, type IIk, 614727 for gene: TMEM165

19 Feb 2020, Gel status: 3

Set Phenotypes

Louise Daugherty (Genomics England Curator)

Added phenotypes Congenital disorder of glycosylation, type IIk, 614727 for gene: TMEM165

19 Feb 2020, Gel status: 3

Set mode of inheritance, Set Phenotypes

Louise Daugherty (Genomics England Curator)

Mode of inheritance for gene TMEM165 was changed from to BIALLELIC, autosomal or pseudoautosomal Added phenotypes Congenital disorder of glycosylation, type IIk, 614727 for gene: TMEM165

14 Feb 2020, Gel status: 3

Added New Source

Louise Daugherty (Genomics England Curator)

Source Next Generation Children Project was added to TMEM165.

14 Feb 2020, Gel status: 3

Added New Source, Status Update

Louise Daugherty (Genomics England Curator)

Source Expert Review Green was added to TMEM165. Rating Changed from Red List (low evidence) to Green List (high evidence)

14 Feb 2020, Gel status: 1

Created, Added New Source, Set mode of inheritance

Louise Daugherty (Genomics England Curator)

gene: TMEM165 was added gene: TMEM165 was added to Severe Paediatric Disorders. Sources: Expert list Mode of inheritance for gene: TMEM165 was set to