Genomics England

Congenital hypothyroidism (Version: )

Relevant disorders: Congenital hypothyroidism or thyroid agenesis, R145

Signed off date: 25 Feb 2020

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

30 green entities

Entity rating	Entity	Mode of inheritance	Mode of pathogenicity	Tags
Green	DUOX2	BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal	N/A	monogenic-polygenic
Green	DUOXA2	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	N/A	monogenic-polygenic, deletions
Green	FOXE1	BIALLELIC, autosomal or pseudoautosomal	Other	N/A
Green	GLIS3	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	GNAS	MONOALLELIC, autosomal or pseudoautosomal, paternally imprinted (maternal allele expressed)	N/A	N/A
Green	HESX1	BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal	N/A	N/A
Green	IGSF1	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	N/A	N/A
Green	IRS4	X-LINKED: hemizygous mutation in males, biallelic mutations in females	N/A	N/A
Green	IYD	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	N/A	N/A
Green	LHX3	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	LHX4	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	NKX2-1	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	OTX2	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	missense
Green	PAX8	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	POU1F1	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Other	N/A
Green	PRKAR1A	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Other	N/A
Green	PROP1	BIALLELIC, autosomal or pseudoautosomal	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	SLC26A4	BIALLELIC, autosomal or pseudoautosomal	N/A	treatable, monogenic-polygenic
Green	SLC26A7	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	SLC5A5	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	TBL1X	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	N/A	missense
Green	TG	BIALLELIC, autosomal or pseudoautosomal	N/A	monogenic-polygenic
Green	THRA	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	treatable
Green	THRB	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	N/A	treatable
Green	TPO	BIALLELIC, autosomal or pseudoautosomal	N/A	monogenic-polygenic
Green	TRHR	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	TSHB	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	TSHR	BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal	N/A	N/A

Congenital hypothyroidism (Version: 2.2)

Congenital hypothyroidism (Version: )