SLC5A5

solute carrier family 5 member 5
OMIM: 601843, Gene2Phenotype

6 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 6 panels
Green SLC5A5 in Mendeliome Version 1.1891	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Thyroid dyshormonogenesis 1, MIM# 274400 MONDO:0020716
Amber SLC5A5 in Intellectual disability syndromic and non-syndromic Level 2: Neurology and neurodevelopmental disorders Version 0.6063	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Genetic Health Queensland Phenotypes Thyroid dyshormonogenesis 1, MIM# 274400
Green SLC5A5 in Additional findings_Paediatric Level 2: Screening Version 0.278	review	BIALLELIC, autosomal or pseudoautosomal	Sources BabySeq Category A gene Expert Review Green Phenotypes Thyroid dyshormonogenesis 1
Green SLC5A5 in Congenital hypothyroidism Level 3: Thyroid disorders Level 2: Endocrine disorders Version 0.43	review	BIALLELIC, autosomal or pseudoautosomal	Sources Genomics England PanelApp Expert Review Green Phenotypes Apparent athyreosis on nuclear medicine scan childhood onset hypothyroidism goitre Thyroid dyshormonogenesis 1, 274400 HYPOTHYROIDISM, CONGENITAL, DUE TO DYSHORMONOGENESIS, 1
Green SLC5A5 in Fetal anomalies Version 1.255	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Thyroid dyshormonogenesis 1 - MIM#274400
Green SLC5A5 in BabyScreen+ newborn screening Level 2: Screening Version 1.113	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green BabySeq Category A gene Phenotypes Thyroid dyshormonogenesis 1, MIM# 274400 Tags treatable endocrine