Inherited renal cancer
Gene: TMEM127EnsemblGeneIds (GRCh38): ENSG00000135956
EnsemblGeneIds (GRCh37): ENSG00000135956
OMIM: 613403, Gene2Phenotype
TMEM127 is in 7 panels
2 reviews
Ivone Leong (Genomics England Curator)
As discussed in the GMS Inherited Cancer Specialist Test Group webex call 31st Jan 2019: The Specialist Test Group agreed that this gene should be rated amber.Created: 1 Feb 2019, 9:47 a.m. | Last Modified: 31 Jul 2019, 12:55 p.m.
Panel Version: 0.38
Rachel Robinson (Leeds Genetics Laboratory)
Sources: UKGTNCreated: 28 Dec 2018, 11:35 a.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications
- PMID: 24334765
Variants in this GENE are reported as part of current diagnostic practice
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
- Sources
-
- Expert Review Amber
- Phenotypes
-
- Renal cell carcinoma (disease), MONDO:0005086
- OMIM
- 613403
- Clinvar variants
- Variants in TMEM127
- Penetrance
- None
- Publications
- Panels with this gene
History Filter Activity
Set Phenotypes
Arina Puzriakova (Genomics England Curator)Phenotypes for gene: TMEM127 were changed from to Renal cell carcinoma (disease), MONDO:0005086
Set publications
Rebecca Foulger (Genomics England curator)Publications for gene: TMEM127 were set to PMID: 24334765
Entity classified by Genomics England curator
Ivone Leong (Genomics England Curator)Gene: tmem127 has been classified as Amber List (Moderate Evidence).
Entity classified by Genomics England curator
Ivone Leong (Genomics England Curator)Gene: tmem127 has been classified as Green List (High Evidence).
Created, Added New Source, Set mode of inheritance, Set publications
Rachel Robinson (Leeds Genetics Laboratory)gene: TMEM127 was added gene: TMEM127 was added to Inherited renal cancer. Sources: UKGTN Mode of inheritance for gene: TMEM127 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: TMEM127 were set to PMID: 24334765 Review for gene: TMEM127 was set to GREEN gene: TMEM127 was marked as current diagnostic