Polycystic liver disease interim

Gene: TMEM67

Red List (low evidence)

TMEM67 (transmembrane protein 67)
EnsemblGeneIds (GRCh38): ENSG00000164953
EnsemblGeneIds (GRCh37): ENSG00000164953
OMIM: 609884, Gene2Phenotype
TMEM67 is in 26 panels

1 review

Ivone Leong (Genomics England Curator)

Comment when marking as ready: As discussed in the GMS Gastrohepatology Specialist Test Group webex call 14th Jan 2019: The Specialist Test Group agreed that this gene is not relevant for this panel as it is associated with COACH syndrome. Therefore, this gene has been given a red rating.
Created: 12 Mar 2019, 1:36 p.m.

History Filter Activity

12 Mar 2019, Gel status: 1

Entity classified by Genomics England curator

Ivone Leong (Genomics England Curator)

Gene: tmem67 has been classified as Red List (Low Evidence).

12 Mar 2019, Gel status: 1

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

Ivone Leong (Genomics England Curator)

gene: TMEM67 was added gene: TMEM67 was added to Polycystic liver disease interim. Sources: NHS GMS,Expert Review Red Mode of inheritance for gene: TMEM67 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: TMEM67 were set to 16415887; 28680603; 19058225; 26191240 Phenotypes for gene: TMEM67 were set to Joubert syndrome 6 (310688); {Bardet-Biedl syndrome 14, modifier of} (615991); Meckel syndrome 3 (607361); Nephronophthisis 11 (613550); congenital hepatic fibrosis; COACH syndrome (216360)