Rare multisystem ciliopathy disorders
Gene: TXNDC15EnsemblGeneIds (GRCh38): ENSG00000113621
EnsemblGeneIds (GRCh37): ENSG00000113621
TXNDC15 is in 8 panels
2 reviews
Rebecca Foulger (Genomics England curator)
Comment on list classification: Updated rating from Grey to Green: 3 Meckel-Gruber patients with 3 different TXNDC15 variants reported in PMID:27894351 (2 consanguineous Saudi and Pakistani) plus functional data (Patient fibroblasts had aberrant ciliogenesis). Helen Brittain confirms that sufficient variants and appropriate phenotype for inclusion on panel.Created: 1 Nov 2018, 2:29 p.m.
Comment on mode of inheritance: Biallelic MOI supported by PMID:27894351.Created: 16 Oct 2018, 3:54 p.m.
Shaheen et al. 2016 (PMID:27894351) report TXNDC15 variants in two consanguineous Saudi families that share the features of Meckel-Gruber syndrome (a ciliopathy phenotype). Phenotypes of both patients included polydactyly; one patients was still born, and one survived till 11 hours old.
Furthermore, through an international collaboration, they were able to identify an additional Meckel-Gruber syndrome patient (Pakistani origin) with a homozygous truncating variant in this gene. The patient also had polydactyly, although a sibling presented similarly but with no polydactyl.
Patient fibroblasts had aberrant ciliogenesis.Created: 16 Oct 2018, 3:47 p.m.
Zornitza Stark (Australian Genomics)
Individuals from two families reported within this paper with some functional data and a Meckel-Gruber phenotype. Probably merits Amber.Created: 7 Aug 2018, 5:15 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Meckel-Gruber
Publications
Variants in this GENE are reported as part of current diagnostic practice
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- Phenotypes
-
- Meckel syndrome 14, OMIM:619879
- Tags
- Clinvar variants
- Variants in TXNDC15
- Penetrance
- None
- Publications
- Panels with this gene
History Filter Activity
Set Phenotypes
Arina Puzriakova (Genomics England Curator)Phenotypes for gene: TXNDC15 were changed from Meckel-Gruber syndrome; MGS to Meckel syndrome 14, OMIM:619879
Added Tag
Eleanor Williams (Genomics England Curator)Tag gene-checked tag was added to gene: TXNDC15.
Entity classified by Genomics England curator
Rebecca Foulger (Genomics England curator)Gene: txndc15 has been classified as Green List (High Evidence).
Set mode of inheritance
Rebecca Foulger (Genomics England curator)Mode of inheritance for gene: TXNDC15 was changed from BIALLELIC, autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal
Set Phenotypes
Rebecca Foulger (Genomics England curator)Phenotypes for gene: TXNDC15 were changed from Meckel-Gruber to Meckel-Gruber syndrome; MGS
Added New Source
Zornitza Stark (Australian Genomics)TXNDC15 was added to Rare multisystem ciliopathy disorders panel. Sources: Expert list
Created
Zornitza Stark (Australian Genomics)TXNDC15 was created by Zornitza Stark