GMS Musculoskeletal specialist test group Skeletal dysplasia
Gene: TMEM67

TMEM67 (transmembrane protein 67)
EnsemblGeneIds (GRCh38): ENSG00000164953
EnsemblGeneIds (GRCh37): ENSG00000164953
OMIM: 609884, Gene2Phenotype
TMEM67 is in 24 panels

1 review

Tracy Lester (Genetics laboratory, Oxford UK)

I don't know

polydactyly-syndactyly-triphalangism SD gp - ? Occasionally polydactyly - none described in COACH, JS6, rare in MS3. amber - only polydactyly and this is appears rare, not isolated; Review on behalf of Tracy Lester/Michael Oldridge
Created: 6 Mar 2019, 11:52 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
COACH syndrome 216360; Joubert syndrome 6 610688; Meckel syndrome 3 607361; {Bardet-Biedl syndrome 14, modifier of} 615991

Created: 6 Mar 2019, 11:52 a.m.

Panel version: 0.2

Details

Mode of Inheritance

BIALLELIC, autosomal or pseudoautosomal

Sources

Expert Review Amber
NHS GMS

Phenotypes

COACH syndrome 216360
Meckel syndrome 3 607361
Joubert syndrome 6 610688
{Bardet-Biedl syndrome 14, modifier of} 615991

OMIM

609884

Clinvar variants

Variants in TMEM67

Penetrance

None

Panels with this gene

History Filter Activity

6 Mar 2019, Gel status: 2

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

Eleanor Williams (Genomics England Curator)

gene: TMEM67 was added gene: TMEM67 was added to GMS Musculoskeletal specialist test group Skeletal dysplasia. Sources: NHS GMS,Expert Review Amber Mode of inheritance for gene: TMEM67 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: TMEM67 were set to COACH syndrome 216360; Meckel syndrome 3 607361; Joubert syndrome 6 610688; {Bardet-Biedl syndrome 14, modifier of} 615991

GMS Musculoskeletal specialist test group Skeletal dysplasia Gene: TMEM67