TXNL4A:Ensemblv115

thioredoxin like 4A
OMIM: 611595, ClinGen, DECIPHER

9 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 9 panels
Green TXNL4A in Congenital Heart Defect Level 2: Cardiovascular disorders Version 1.0	2 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Literature Expert Review Green Phenotypes Burn-McKeown syndrome - MIM#608572 Tags SV/CNV UTR
Green TXNL4A in Mandibulofacial Acrofacial dysostosis Level 2: Dysmorphic and congenital abnormality syndromes Version 2.0	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Victorian Clinical Genetics Services Expert Review Green Phenotypes Burn-McKeown syndrome, MIM# 608572 Choanal atresia - deafness - cardiac defects - dysmorphism syndrome, MONDO:0012064 Tags SV/CNV 5'UTR
Green TXNL4A in Pierre Robin Sequence Level 2: Dysmorphic and congenital abnormality syndromes Version 1.0	0 reviews	Unknown	Sources Expert Review Green Victorian Clinical Genetics Services
Green TXNL4A in Deafness_IsolatedAndComplex Level 2: Hearing and ear disorders Version 2.0	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Expert Review Green Phenotypes Burn-McKeown syndrome, MIM# 608572 Choanal atresia - deafness - cardiac defects - dysmorphism syndrome, MONDO:0012064 Tags SV/CNV 5'UTR
Green TXNL4A in Mackenzie's Mission_Reproductive Carrier Screening Level 2: Screening Version 1.0	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Mackenzie's Mission Expert Review Green Phenotypes Burn-McKeown syndrome, 608572 (3)
Green TXNL4A in Clefting disorders Level 3: Dysmorphic disorders Level 2: Dysmorphic and congenital abnormality syndromes Version 1.0	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Victorian Clinical Genetics Services Expert Review Green Phenotypes Burn-McKeown syndrome, MIM# 608572 Choanal atresia - deafness - cardiac defects - dysmorphism syndrome, MONDO:0012064 Tags SV/CNV 5'UTR
Green TXNL4A in Choanal atresia Level 2: Dysmorphic and congenital abnormality syndromes Version 2.0	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Research Genomics England PanelApp Expert Review Green Phenotypes Burn-McKeown syndrome, MIM# 608572 Choanal atresia - deafness - cardiac defects - dysmorphism syndrome, MONDO:0012064 Tags SV/CNV 5'UTR
Green TXNL4A in Fetal anomalies Version 2.0	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Genetic Health Queensland Genomics England PanelApp Expert Review Green Phenotypes Burn-McKeown syndrome, MIM# 608572 Tags SV/CNV 5'UTR
Green TXNL4A in Prepair 1000+ Level 2: Screening Version 3.0	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Mackenzie's Mission Expert Review Green Phenotypes Burn-McKeown syndrome, MIM#608572