Genomics England

Optic neuropathy (Version: )

Relevant disorders: Inherited optic neuropathies, R41

Signed off date: 13 Mar 2025

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

42 green entities

Entity rating	Entity	Mode of inheritance	Mode of pathogenicity	Tags
Green	ACO2	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	N/A	N/A
Green	AFG3L2	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	N/A	N/A
Green	ALPK1	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Other	N/A
Green	ATG7	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	BTD	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	C12orf65	BIALLELIC, autosomal or pseudoautosomal	N/A	new-gene-name
Green	C19orf12	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	N/A	N/A
Green	CISD2	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	DNAJC30	BIALLELIC, autosomal or pseudoautosomal	N/A	gene-checked
Green	DNM1L	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	EPRS	BIALLELIC, autosomal or pseudoautosomal	N/A	new-gene-name
Green	FDXR	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	HIKESHI	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	HK1	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Loss-of-function variants DO NOT cause this phenotype	N/A
Green	HSD17B10	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	ISCA2	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	LETM1	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	LHX2	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	gene-checked
Green	MAG	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	MECR	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	MFF	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	MFN2	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	N/A	N/A
Green	MT-ATP6	MITOCHONDRIAL	N/A	gene-checked
Green	MT-ND1	MITOCHONDRIAL	N/A	gene-checked
Green	MT-ND4	MITOCHONDRIAL	N/A	gene-therapy-trial, gene-checked
Green	MT-ND6	MITOCHONDRIAL	N/A	gene-checked
Green	NBAS	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	NDUFA12	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	NR2F1	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	OPA1	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	N/A	N/A
Green	OPA3	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	N/A	N/A
Green	PDXK	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	RTN4IP1	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	SLC25A46	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	SLC44A1	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	SLC52A2	BIALLELIC, autosomal or pseudoautosomal	N/A	treatable
Green	SPG7	BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal	N/A	N/A
Green	SSBP1	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	N/A	N/A
Green	TFG	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	TMEM126A	BIALLELIC, autosomal or pseudoautosomal	N/A	founder-effect
Green	UCHL1	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	N/A	N/A
Green	WFS1	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	N/A	N/A

Optic neuropathy (Version: 4.404.03.02.2)

Optic neuropathy (Version: )