SLC5A5

Amber SLC5A5 in Inherited non-medullary thyroid cancer

Level 3: Breast and endocrine
Level 2: Tumour syndromes
Version 1.7

Sources

• Expert Review Amber
• Radboud University Medical Center, Nijmegen
• Literature
• Illumina TruGenome Clinical Sequencing Services

Phenotypes

• Follicular thyroid adenoma
• Thyroid dyshormonogenesis 1 274400

Red SLC5A5 in Fetal anomalies

Version 3.169
Latest signed off version: v3.0 (22 Mar 2023)

Sources

• Expert Review Red
• PAGE DD-Gene2Phenotype

Phenotypes

• THYROID HORMONOGENESIS DEFECT I

Green SLC5A5 in DDG2P

Version 3.90
Latest signed off version: v3.1 (22 Mar 2023)

Component of the following Super Panels:

Sources

• DD-Gene2Phenotype
• Expert Review Green

Phenotypes

• THYROID HORMONOGENESIS DEFECT I 274400

Amber SLC5A5 in Intellectual disability - microarray and sequencing

Level 3: Neurodevelopmental disorders
Level 2: Neurology and neurodevelopmental disorders
Version 5.557
Latest signed off version: v5.0 (22 Mar 2023)

Component of the following Super Panels:

Sources

• Victorian Clinical Genetics Services
• Expert Review Amber
• Expert Review Amber
• BRIDGE study SPEED NEURO Tier1 Gene

Phenotypes

• Gene2Phenotype confirmed gene with ID HPO

Green SLC5A5 in Congenital hypothyroidism

Level 3: Thyroid disorders
Level 2: Endocrine disorders
Version 2.18
Latest signed off version: v2.2 (25 Feb 2020)

Sources

• Expert Review Green
• Other

Phenotypes

• Thyroid dyshormonogenesis 1, 274400
• HYPOTHYROIDISM, CONGENITAL, DUE TO DYSHORMONOGENESIS, 1
• Apparent athyreosis on nuclear medicine scan
• goitre
• childhood onset hypothyroidism

Green SLC5A5 in Severe Paediatric Disorders

Version 1.184

Sources

• Next Generation Children Project
• Expert Review Green
• Expert list

Phenotypes

• Thyroid dyshormonogenesis 1, 274400