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Intellectual disability syndromic and non-syndromic

Gene: TMEM67

Green List (high evidence)

TMEM67 (transmembrane protein 67)
EnsemblGeneIds (GRCh38): ENSG00000164953
EnsemblGeneIds (GRCh37): ENSG00000164953
OMIM: 609884, Gene2Phenotype
TMEM67 is in 15 panels

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

Bi-allelic variants in this gene are associated with a range of ciliopathies, including JBTS, Meckel syndrome and isolated nephronophthisis. Multiple families with each.
Created: 6 Jul 2021, 10:15 a.m. | Last Modified: 6 Jul 2021, 10:15 a.m.
Panel Version: 0.3924

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Joubert syndrome 6, MIM# 610688; Meckel syndrome 3, MIM# 607361; COACH syndrome 1, MIM# 216360

Publications

History Filter Activity

6 Jul 2021, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: tmem67 has been classified as Green List (High Evidence).

6 Jul 2021, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: TMEM67 were changed from Joubert syndrome 6, MIM# 610688; Meckel syndrome 3, MIM# 607361; COACH syndrome 1, MIM# 216360 to Joubert syndrome 6, MIM# 610688; Meckel syndrome 3, MIM# 607361; COACH syndrome 1, MIM# 216360

6 Jul 2021, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: TMEM67 were changed from to Joubert syndrome 6, MIM# 610688; Meckel syndrome 3, MIM# 607361; COACH syndrome 1, MIM# 216360

6 Jul 2021, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: TMEM67 were set to

6 Jul 2021, Gel status: 3

Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Mode of inheritance for gene: TMEM67 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal

22 Nov 2019, Gel status: 3

Created, Added New Source, Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: TMEM67 was added gene: TMEM67 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: TMEM67 was set to Unknown