Clefting
Gene: TXNL4AEnsemblGeneIds (GRCh38): ENSG00000141759
EnsemblGeneIds (GRCh37): ENSG00000141759
OMIM: 611595, Gene2Phenotype
TXNL4A is in 5 panels
1 review
Helen Brittain (Genomics England Curator)
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
BURN-MCKEOWN SYNDROME; BMKS
Publications
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Victorian Clinical Genetics Services
- Expert Review Green
- Phenotypes
-
- BURN-MCKEOWN SYNDROME
- BMKS
- Cleft palate
- OMIM
- 611595
- Clinvar variants
- Variants in TXNL4A
- Penetrance
- Complete
- Publications
- Panels with this gene
History Filter Activity
Added New Source, Set penetrance
Ellen McDonagh (Genomics England Curator)Victorian Clinical Genetics Services was added to TXNL4A. Panel: Clefting Phenotypes for gene TXNL4A were set to BURN-MCKEOWN SYNDROME, BMKS, Cleft palate
panel promoted to version 1
Louise Daugherty (Genomics England Curator)Panel reviews were assessed, and panel was revised according to reviews and further curation 31st May 2017
Added New Source
Ellen McDonagh (Genomics England Curator)TXNL4A was added to Cleftingpanel. Sources: Expert Review Green
Created
Ellen McDonagh (Genomics England Curator)TXNL4A was created by ellenmcdonagh