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Cataracts

Gene: TMEM114

Red List (low evidence)

TMEM114 (transmembrane protein 114)
EnsemblGeneIds (GRCh38): ENSG00000232258
EnsemblGeneIds (GRCh37): ENSG00000232258
OMIM: 611579, Gene2Phenotype
TMEM114 is in 2 panels

2 reviews

Sarah Waller (Manchester Centre for Genomic Medicine)

I don't know

1 case reported, protein is expressed in the lens
Created: 25 May 2016, 8:11 a.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

Phenotypes
Cataract and microphthalmia

Publications

  • Jamieson et al (2207) Hum Mutat 28:968-977

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

Ellen McDonagh (Genomics England Curator)

Red List (low evidence)

Comment on list classification: There is currently some evidence to contradict the role of this gene in cataracts, or indicates that non-penetrance exists.
Created: 6 Jun 2016, 8:58 a.m.
Gene and phenotype added from the Manchester congenital cataracts gene panel. Mode of inheritance sourced from G2P. Is a possible DD gene, and is not associated with a disease in OMIM.
Created: 29 Apr 2016, 3:41 p.m.

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Red
  • Expert list
Phenotypes
  • Cataract and microphthalmia
OMIM
611579
Clinvar variants
Variants in TMEM114
Penetrance
Complete
Publications
  • PMID: 17492639 Jamieson et al (2007) Hum Mutat 28:968-977 - original report of a balanced translocation which involved the TMEM114 gene associated with congenital/juvenile cataracts in a family pedigree. They also report identifying heterozygous missense variants in several other cases, however these were found in healthy sibling and mother: "The I35T and F106L variants were in conserved amino acids in the first predicted protein loop outside the membrane (Fig. 3A and B). These mutations were absent in 200 normal control chromosomes as well as 129 other congenital cataract patients. Nevertheless, these mutations were also detected in a heterozygous state in the DNA from the patients’ apparently healthy sibling and mother, respectively. One sequence variant, c.440C4T, p.A147V, was a polymorphism, which was found three times in the cohort and was not present in all affected individuals in a familial case."
  • PMID: 24357539 Gai et al, (2014) - report a deletion of the TMEM114 gene in a boy and father without cataracts, and summarise further database entries of deletions which have also not reported a cataract phenotype. They highlight that either non-penetrance, or other factors are causal in the previous published report that associated variants in this gene with cataract.
Panels with this gene

History Filter Activity

6 Jun 2016, Gel status: 1

Gene classified by Genomics England curator

Ellen McDonagh (Genomics England Curator)

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

6 Jun 2016, Gel status: 1

Set publications

Ellen McDonagh (Genomics England Curator)

Publications for TMEM114 were set to PMID: 17492639 Jamieson et al (2007) Hum Mutat 28:968-977 - original report of a balanced translocation which involved the TMEM114 gene associated with congenital/juvenile cataracts in a family pedigree. They also report identifying heterozygous missense variants in several other cases, however these were found in healthy sibling and mother: "The I35T and F106L variants were in conserved amino acids in the first predicted protein loop outside the membrane (Fig. 3A and B). These mutations were absent in 200 normal control chromosomes as well as 129 other congenital cataract patients. Nevertheless, these mutations were also detected in a heterozygous state in the DNA from the patients’ apparently healthy sibling and mother, respectively. One sequence variant, c.440C4T, p.A147V, was a polymorphism, which was found three times in the cohort and was not present in all affected individuals in a familial case."; PMID: 24357539 Gai et al, (2014) - report a deletion of the TMEM114 gene in a boy and father without cataracts, and summarise further database entries of deletions which have also not reported a cataract phenotype. They highlight that either non-penetrance, or other factors are causal in the previous published report that associated variants in this gene with cataract.

6 Jun 2016, Gel status: 1

Gene classified by Genomics England curator

Ellen McDonagh (Genomics England Curator)

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

6 Jun 2016, Gel status: 2

Set publications

Ellen McDonagh (Genomics England Curator)

Publications for TMEM114 were set to Jamieson et al (2207) Hum Mutat 28:968-977; PMID: 24357539 - report a deletion of the TMEM114 gene in a boy and father without cataracts, and summarise further database entries of deletions which have also not reported a cataract phenotype. They highlight that either non-penetrance or other factors are causal in the previous report that associated variants in this gene with cataract.

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)

TMEM114 was created by ellenmcdonagh

29 Apr 2016, Gel status: 0

Added New Source

Ellen McDonagh (Genomics England Curator)

TMEM114 was added to Cataractspanel. Sources: Expert list