Gastrointestinal neuromuscular disorders

Gene: TMEM70

Green List (high evidence)

TMEM70 (transmembrane protein 70)
EnsemblGeneIds (GRCh38): ENSG00000175606
EnsemblGeneIds (GRCh37): ENSG00000175606
OMIM: 612418, Gene2Phenotype
TMEM70 is in 16 panels

2 reviews

Ellen McDonagh (Genomics England Curator)

Green List (high evidence)

Comment on list classification: Clinical synopsis for phenotype 614052 (Mitochondrial complex V (ATP synthase) deficiency, nuclear type 2) includes pseudo obstruction. This is a green gene on the mitochondrial panel Version 1.14 and ID panel Version 1.8. It is a confirmed DD gene for Mitochondrial complex V (ATP synthase) deficiency, nuclear type 2. Around 15 family reports in OMIM.
Created: 19 Oct 2016, 9:48 a.m.

Neil shah (GOSH)

I don't know

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

History Filter Activity

26 Oct 2016, Gel status: 4

panel promoted to version 1

Ellen McDonagh (Genomics England Curator)

26th October 2016: panel revised after expert review and further curation of the analysis, with then internal clinical review. Ready for promotion to version 1.

19 Oct 2016, Gel status: 4

Gene classified by Genomics England curator

Ellen McDonagh (Genomics England Curator)

This gene has been classified as Green List (High Evidence).

31 Aug 2016, Gel status: 4

Set Phenotypes

Sarah Leigh (Genomics England Curator)

Phenotypes for TMEM70 were set to Mitochondrial complex V (ATP synthase) deficiency, nuclear type 2 614052

31 Aug 2016, Gel status: 4

Added New Source

Sarah Leigh (Genomics England Curator)

TMEM70 was added to Neonatal and familial gastrointestinal neuromuscular disorderspanel. Source: Illumina TruGenome Clinical Sequencing Services

31 Aug 2016, Gel status: 3

Added New Source

Sarah Leigh (Genomics England Curator)

TMEM70 was added to Neonatal and familial gastrointestinal neuromuscular disorderspanel. Source: Emory Genetics Laboratory

31 Aug 2016, Gel status: 2

Added New Source

Sarah Leigh (Genomics England Curator)

TMEM70 was added to Neonatal and familial gastrointestinal neuromuscular disorderspanel. Source: Radboud University Medical Center, Nijmegen

31 Aug 2016, Gel status: 0

Created

Sarah Leigh (Genomics England Curator)

TMEM70 was created by sleigh

31 Aug 2016, Gel status: 1

Added New Source

Sarah Leigh (Genomics England Curator)

TMEM70 was added to Neonatal and familial gastrointestinal neuromuscular disorderspanel. Sources: UKGTN