Genomics England

Genes and Entities

Multi locus imprinting disorders (Version: )

Relevant disorders: R417.2

Signed off date: 22 Mar 2023

Panel types: GMS Rare Disease, GMS signed-off

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5 green entities

Entity rating	Entity	Mode of inheritance	Mode of pathogenicity	Tags
Green	KHDC3L	BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal	N/A	N/A
Green	NLRP2	BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal	Other	watchlist, gene-checked
Green	NLRP5	BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal	N/A	gene-checked
Green	NLRP7	BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal	N/A	N/A
Green	PADI6	BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal	N/A	N/A