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Mackenzie's Mission_Reproductive Carrier Screening

Gene: TXNL4A

Green List (high evidence)

TXNL4A (thioredoxin like 4A)
EnsemblGeneIds (GRCh38): ENSG00000141759
EnsemblGeneIds (GRCh37): ENSG00000141759
OMIM: 611595, Gene2Phenotype
TXNL4A is in 11 panels

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

I don't know

Note 34-bp deletion in the promoter of the TXNL4A gene (chr18:77,748,581-77,748,614del, GRCh37) was identified in heterozygous or homozygous state in all the families reported originally, which may not be tractable by all NGS assays.
Created: 26 Mar 2021, 9:02 p.m. | Last Modified: 26 Mar 2021, 9:02 p.m.
Panel Version: 0.54

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Burn-McKeown syndrome, MIM# 608572; Choanal atresia - deafness - cardiac defects - dysmorphism syndrome, MONDO:0012064

Publications

History Filter Activity

19 Apr 2020, Gel status: 3

Created, Added New Source, Set mode of inheritance, Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: TXNL4A was added gene: TXNL4A was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green Mode of inheritance for gene: TXNL4A was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: TXNL4A were set to Burn-McKeown syndrome, 608572 (3)