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Cataracts

Gene: TMEM70

Red List (low evidence)

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

3 reviews

Ellen Thomas (Genomics England Curator)

Comment on list classification: Severe infantile phenotype, wouldn't present with isolated cataracts, only 1 consanguinous family with cataracts as part of the condition (may have been caused by a second gene due to consanguinity).
Created: 7 Jun 2016, 1:20 p.m.

Sarah Waller (Manchester Centre for Genomic Medicine)

I don't know

Can only find published evidence for 2 separate cases with cataracts as a feature - in other publications cataracts may not have been looked for
Created: 25 May 2016, 8:11 a.m.

Mode of inheritance
Unknown

Phenotypes
Congenital cataract, neonatal lactic acidosis, cardiomyopathy, encephalomyopathy

Publications

  • Atay et al (2013) Gene 515:197-9
  • Spiegel et al(2011) J. Med. Genet. 48: 177-182

Variants in this GENE are reported as part of current diagnostic practice

Ellen McDonagh (Genomics England Curator)

Comment on mode of inheritance: Biallelic for Mitochondrial complex V (ATP synthase) deficiency, nuclear type 2 (source: OMIM and G2P).
Created: 6 Jun 2016, 9:18 a.m.
Gene and phenotype added from the Manchester congenital cataracts gene panel. It is a confirmed DD gene for Mitochondrial complex V (ATP synthase) deficiency, nuclear type 2 (biallelic inheritance), which includes cataract as a phenotype. More than 3 unrelated cases reported in OMIM related to Mitochondrial complex V (ATP synthase) deficiency, nuclear type 2.
Created: 29 Apr 2016, 3:38 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Expert list
Phenotypes
  • Congenital cataract, neonatal lactic acidosis, cardiomyopathy, encephalomyopathy
  • Mitochondrial complex V (ATP synthase) deficiency, nuclear type 2
OMIM
612418
Clinvar variants
Variants in TMEM70
Penetrance
Complete
Publications
  • Atay et al (2013) Gene 515:197-9 (PMID: 23235116)
  • Spiegel et al(2011) J. Med. Genet. 48: 177-182 (PMID: 21147908)
Panels with this gene

History Filter Activity

7 Jun 2016, Gel status: 1

Gene classified by Genomics England curator

Ellen Thomas (Genomics England Curator)

This gene has been classified as Red List (Low Evidence).

7 Jun 2016, Gel status: 1

Gene classified by Genomics England curator

Ellen Thomas (Genomics England Curator)

This gene has been classified as Red List (Low Evidence).

6 Jun 2016, Gel status: 2

Set Mode of Inheritance

Ellen McDonagh (Genomics England Curator)

Mode of inheritance for TMEM70 was changed to BIALLELIC, autosomal or pseudoautosomal

6 Jun 2016, Gel status: 2

Set Phenotypes

Ellen McDonagh (Genomics England Curator)

Phenotypes for TMEM70 were set to Congenital cataract, neonatal lactic acidosis, cardiomyopathy, encephalomyopathy; Mitochondrial complex V (ATP synthase) deficiency, nuclear type 2

6 Jun 2016, Gel status: 2

Set publications

Ellen McDonagh (Genomics England Curator)

Publications for TMEM70 were set to Atay et al (2013) Gene 515:197-9 (PMID: 23235116); Spiegel et al(2011) J. Med. Genet. 48: 177-182 (PMID: 21147908)

13 May 2016, Gel status: 2

Gene classified by Genomics England curator

Ellen McDonagh (Genomics England Curator)

This gene has been classified as Amber List (Moderate Evidence).

29 Apr 2016, Gel status: 0

Created

Ellen McDonagh (Genomics England Curator)

TMEM70 was created by ellenmcdonagh

29 Apr 2016, Gel status: 0

Added New Source

Ellen McDonagh (Genomics England Curator)

TMEM70 was added to Cataractspanel. Sources: Expert list