Genomics England

Genes and Entities

Hyperthyroidism (Version: )

Relevant disorders: Resistance to thyroid hormone, R182

Signed off date: 30 Nov 2022

Panel types: Rare Disease 100K, GMS Rare Disease Virtual, GMS signed-off

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7 green entities

Entity rating	Entity	Mode of inheritance	Mode of pathogenicity	Tags
Green	ALB	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	SECISBP2	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	SLC16A2	X-LINKED: hemizygous mutation in males, biallelic mutations in females	N/A	treatable
Green	THRA	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	treatable
Green	THRB	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	N/A	treatable
Green	TSHR	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	TTR	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Other	N/A