Bardet-Biedl Syndrome

Gene: TMEM67

Red List (low evidence)

TMEM67 (transmembrane protein 67)
EnsemblGeneIds (GRCh38): ENSG00000164953
EnsemblGeneIds (GRCh37): ENSG00000164953
OMIM: 609884, Gene2Phenotype
TMEM67 is in 23 panels

2 reviews

Beth Hoskins (Great Ormond Street Hospital)

Red List (low evidence)

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
216360; 607361; 613550; 610688

Caroline Wright (Genomics England Curator)

Comment when marking as ready: OMIM: potential modifier
17 Dec 2015, 2:13 p.m.

History Filter Activity

1 Feb 2016, Gel status: 1

Set Phenotypes

Ellen McDonagh (Genomics England Curator)

Phenotypes for TMEM67 were set to {Bardet‐Biedl syndrome 14, modifier of}; 216360; 607361; 613550; 610688

1 Feb 2016, Gel status: 1

Set Mode of Inheritance

Ellen McDonagh (Genomics England Curator)

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

17 Dec 2015, Gel status: 1

Gene classified by Genomics England curator

Caroline Wright (Genomics England Curator)

This gene has been classified as Red List (Low Evidence).

28 Apr 2015, Gel status: 1

Added New Source

GEL ()

TMEM67 was added to Bardet-Biedl Syndrome panel. Sources: Radboud University Medical Center, Nijmegen