Cystic kidney disease

Gene: TMEM67

Green List (high evidence)

TMEM67 (transmembrane protein 67)
EnsemblGeneIds (GRCh38): ENSG00000164953
EnsemblGeneIds (GRCh37): ENSG00000164953
OMIM: 609884, Gene2Phenotype
TMEM67 is in 28 panels

2 reviews

Ellen Thomas (Genomics England Curator)

Comment on list classification: Can cause non-syndromic nephronophthisis.
Created: 10 May 2016, 12:50 p.m.

Miranda Durkie (Genetics)

Green List (high evidence)

No current test experience but this gene is on the list for an extended panel.
Created: 26 Oct 2015, 4:17 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Meckel-Gruber type 6; Jouberts syndrome type 3, Nephronophthisis type 11

Publications

History Filter Activity

10 May 2016, Gel status: 4

Set Mode of Inheritance

Ellen Thomas (Genomics England Curator)

Mode of inheritance for TMEM67 was changed to BIALLELIC, autosomal or pseudoautosomal

10 May 2016, Gel status: 4

Gene classified by Genomics England curator

Ellen Thomas (Genomics England Curator)

This gene has been classified as Green List (High Evidence).

10 May 2016, Gel status: 4

Gene classified by Genomics England curator

Ellen Thomas (Genomics England Curator)

This gene has been classified as Green List (High Evidence).

15 Jul 2015, Gel status: 0

Added New Source

Ellen McDonagh (Genomics England Curator)

TMEM67 was added to Cystic kidney diseasepanel. Sources: Expert