Genomics England

Autoinflammatory disorders (Version: )

Relevant disorders: R413

Signed off date: 30 Nov 2022

Panel types: GMS Rare Disease, GMS signed-off

23 green entities

Entity rating	Entity	Mode of inheritance	Mode of pathogenicity	Tags
Green	ADA2	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	CARD14	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	IL1RN	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	IL36RN	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	LPIN2	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	MEFV	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	N/A	N/A
Green	MVK	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	NLRC4	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	NLRP12	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	NLRP3	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	NOD2	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	OTULIN	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	PLCG2	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	PSMB4	BIALLELIC, autosomal or pseudoautosomal	N/A	digenic
Green	PSMB8	BIALLELIC, autosomal or pseudoautosomal	N/A	digenic
Green	PSMB9	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	digenic
Green	PSTPIP1	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	RBCK1	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	SH3BP2	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	SLC29A3	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	TMEM173	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	new-gene-name
Green	TNFAIP3	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	TNFRSF1A	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A

Autoinflammatory disorders (Version: 1.0)

Autoinflammatory disorders (Version: )