TXNL4A

thioredoxin like 4A
OMIM: 611595, Gene2Phenotype

11 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 11 panels
Green TXNL4A in Congenital Heart Defect Level 2: Cardiovascular disorders Version 0.418	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Burn-McKeown syndrome - MIM#608572 Tags SV/CNV UTR
Green TXNL4A in Mandibulofacial Acrofacial dysostosis Level 2: Dysmorphic and congenital abnormality syndromes Version 1.9	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Burn-McKeown syndrome, MIM# 608572 Choanal atresia - deafness - cardiac defects - dysmorphism syndrome, MONDO:0012064 Tags SV/CNV 5'UTR
Green TXNL4A in Mendeliome Version 1.1891	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services 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 0.47	review	Unknown	Sources Victorian Clinical Genetics Services Expert Review Green
Green TXNL4A in Deafness_IsolatedAndComplex Level 2: Hearing and ear disorders Version 1.194	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert Review Phenotypes Burn-McKeown syndrome, MIM# 608572 Choanal atresia - deafness - cardiac defects - dysmorphism syndrome, MONDO:0012064 Tags SV/CNV 5'UTR
Red TXNL4A in Intellectual disability syndromic and non-syndromic Level 2: Neurology and neurodevelopmental disorders Version 0.6063	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Genetic Health Queensland Phenotypes Burn-McKeown syndrome, MIM# 608572
Green TXNL4A in Mackenzie's Mission_Reproductive Carrier Screening Level 2: Screening Version 0.109	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Burn-McKeown syndrome, 608572 (3)
Green TXNL4A in Clefting disorders Level 3: Dysmorphic disorders Level 2: Dysmorphic and congenital abnormality syndromes Version 0.252	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services 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 1.5	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genomics England PanelApp Research 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 1.255	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genomics England PanelApp Genetic Health Queensland Phenotypes Burn-McKeown syndrome, MIM# 608572 Tags SV/CNV 5'UTR
Green TXNL4A in Prepair 1000+ Level 2: Screening Version 1.9	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Burn-McKeown syndrome, 608572 (3)