Genomics England

Genes and Entities

Neuronal ceroid lipofuscinosis (Version: )

Relevant disorders: R231

Signed off date: 13 Mar 2025

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

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14 green entities

Entity rating	Entity	Mode of inheritance	Mode of pathogenicity	Tags
Green	ATP13A2	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	CLCN6	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Loss-of-function variants DO NOT cause this phenotype	N/A
Green	CLN3	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	CLN5	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	CLN6	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	CLN8	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	CTSD	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	CTSF	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	DNAJC5	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	GRN	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	KCTD7	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	MFSD8	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	PPT1	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	TPP1	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A