TMEM165

transmembrane protein 165
OMIM: 614726, Gene2Phenotype

9 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 9 panels
Green TMEM165 in Congenital disorders of glycosylation Level 2: Metabolic Version 7.13 Latest signed off version: v7.0 (30 Apr 2025) Component of the following Super Panels: Hereditary ataxia and cerebellar anomalies - childhood onset	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green UKGTN Radboud University Medical Center, Nijmegen Illumina TruGenome Clinical Sequencing Services Emory Genetics Laboratory Phenotypes Congenital disorder of glycosylation, type IIk 614727
Green TMEM165 in Skeletal dysplasia Level 2: Musculoskeletal Version 8.33 Latest signed off version: v8.0 (30 Apr 2025) Component of the following Super Panels: Paediatric disorders	review	BIALLELIC, autosomal or pseudoautosomal	Sources NHS GMS Expert Review Green Emory Genetics Laboratory Illumina TruGenome Clinical Sequencing Services Expert list Radboud University Medical Center, Nijmegen Phenotypes Congenital disorder of glycosylation, type IIk 614727
Green TMEM165 in Undiagnosed metabolic disorders Level 3: Specific metabolic abnormalities Level 2: Metabolic disorders Version 1.642	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes CDG2K (other congenital disorders of glycosylation) Congenital disorder of glycosylation, type IIk 614727
Green TMEM165 in Likely inborn error of metabolism Level 2: Metabolic Version 8.91 Latest signed off version: v8.0 (30 Apr 2025) Component of the following Super Panels: Childhood onset leukodystrophy Hypotonic infant Paediatric disorders Unexplained death in infancy and sudden unexplained death in childhood	review	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)
Red TMEM165 in Amelogenesis imperfecta Level 2: Musculoskeletal Version 4.26 Latest signed off version: v4.0 (30 Apr 2025)	review	BIALLELIC, autosomal or pseudoautosomal	Sources Other Phenotypes amelogenesis imperfecta
Green TMEM165 in Fetal anomalies Level 2: Fetal (including NIPD) Version 6.140 Latest signed off version: v6.0 (30 Apr 2025)	review	BIALLELIC, autosomal or pseudoautosomal	Sources PAGE DD-Gene2Phenotype Expert Review Green Phenotypes CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIK
Green TMEM165 in DDG2P Version 6.424 Latest signed off version: v6.0 (30 Apr 2025) Component of the following Super Panels: Paediatric disorders	review	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIK 614727
Green TMEM165 in Intellectual disability Level 2: Developmental disorders Version 9.279 Latest signed off version: v9.0 (30 Apr 2025) Component of the following Super Panels: Childhood onset leukodystrophy Hypotonic infant Paediatric disorders	review	BIALLELIC, autosomal or pseudoautosomal	Sources Victorian Clinical Genetics Services Expert Review Green Radboud University Medical Center, Nijmegen Phenotypes Congenital disorder of glycosylation, type IIk, 614727 CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIK
Red TMEM165 in Childhood onset dystonia, chorea or related movement disorder Level 2: Neurology Version 7.13 Latest signed off version: v7.0 (30 Apr 2025)	review	Not set	Sources Expert Review Red London North GLH