Ciliopathies
Gene: TXNDC15

TXNDC15 (thioredoxin domain containing 15)
EnsemblGeneIds (GRCh38): ENSG00000113621
EnsemblGeneIds (GRCh37): ENSG00000113621
TXNDC15 is in 5 panels

2 reviews

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Meckel syndrome 14, MIM# 619879

Created: 15 May 2022, 12:55 a.m.
Last Modified: 15 May 2022, 12:55 a.m.
Panel version: 1.27

Crystle Lee (Victorian Clinical Genetics Services)

Green List (high evidence)

No OMIM number. Total of 4 families reported with supporting functional studies in ciliogenesis defects. Emerging MKS gene.

PMID: 30851085; Ridnoi 2019: Chet variants identified in a prenatally diagnosed case of Meckel-Gruber syndrome.

PMID: 27894351; Shaheen 2016: Reported 3 diff hom variants in 3 consang families with Meckel-Gruber syndrome.Functional studies performed showing defects in ciliogenesis
Sources: Expert Review
Created: 13 May 2020, 2:25 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Meckel-Gruber syndrome

Publications

Created: 13 May 2020, 2:25 a.m.

Panel version: Imported from Joubert syndrome and other neurological ciliopathies panel version 0.48

Details

Mode of Inheritance

BIALLELIC, autosomal or pseudoautosomal

Sources

Expert Review Green
Victorian Clinical Genetics Services

Phenotypes

Meckel syndrome 14, MIM# 619879

Clinvar variants

Variants in TXNDC15

Penetrance

None

Publications

Panels with this gene