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  3. TMEM67
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Fetal anomalies

Gene: TMEM67

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

1 review

Rebecca Foulger (Genomics England curator)

Green List (high evidence)

Additional evidence from PMID:30712878: Homozygous variant identified in TMEM67 from fetal exome sequencing in Petrovski et al., 2019 (Whole-exome sequencing in the evaluation of fetal stuctural anomalies: a prospective cohort study, PMID:30712878).
Created: 18 Apr 2019, 3:57 p.m.
Additional evidence from PMID:30266093: AR/compound het variant identified in TMEM67 from fetal exome sequencing in Normand et al., 2018 (Clinical exome sequencing for fetuses with ultrasound abnormalities and a suspected Mendelian disorder, PMID:30266093).
Created: 18 Apr 2019, 3:55 p.m.
This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.
Created: 24 Mar 2019, 4:30 p.m.
DDG2P rating in original PAGE list: Confirmed for COACH SYNDROM, Confirmed for MECKEL SYNDROME TYPE 3, Confirmed for JOUBERT SYNDROME TYPE 6 and Confirmed for NEPHRONOPHTHISIS TYPE 11.
Created: 11 Dec 2018, 9:05 a.m.
In the original PAGE file, MOP listed as LOF for COACH SYNDROM, MECKEL SYNDROME TYPE 3 and JOUBERT SYNDROME TYPE 6, and listed as Uncertain for NEPHRONOPHTHISIS TYPE 11.
Created: 8 Nov 2018, 4:45 p.m.

Publications

Created: 8 Nov 2018, 4:45 p.m.

Panel version: 0.186

History Filter Activity

8 Nov 2018, Gel status: 4

Set Phenotypes

Rebecca Foulger (Genomics England curator)

Added phenotypes NEPHRONOPHTHISIS TYPE 11 for gene: TMEM67

8 Nov 2018, Gel status: 4

Set Phenotypes

Rebecca Foulger (Genomics England curator)

Added phenotypes JOUBERT SYNDROME TYPE 6 for gene: TMEM67

8 Nov 2018, Gel status: 4

Set Phenotypes

Rebecca Foulger (Genomics England curator)

Added phenotypes MECKEL SYNDROME TYPE 3 for gene: TMEM67

8 Nov 2018, Gel status: 4

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

Rebecca Foulger (Genomics England curator)

gene: TMEM67 was added gene: TMEM67 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype Mode of inheritance for gene: TMEM67 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: TMEM67 were set to COACH SYNDROM