Genomics England

Adult onset leukodystrophy (Version: )

Relevant disorders: White matter disorders - adult onset, R62

Signed off date: 6 Dec 2023

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

85 green entities

Entity rating	Entity	Mode of inheritance	Mode of pathogenicity	Tags
Green	AARS	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	new-gene-name, to_be_confirmed_NHSE, Q4_21_rating, Q4_21_expert_review
Green	AARS2	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	ABCD1	X-LINKED: hemizygous mutation in males, biallelic mutations in females	N/A	N/A
Green	ALDH3A2	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	APP	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	ARSA	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	AUH	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	CLCN2	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	COL4A1	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	COL4A2	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	Q4_21_rating, to_be_confirmed_NHSE, Q4_21_expert_review, Q4_21_phenotype
Green	CSF1R	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	CTSA	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	CYP27A1	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	DARS	BIALLELIC, autosomal or pseudoautosomal	N/A	new-gene-name
Green	DARS2	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	EIF2B1	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	EIF2B2	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	EIF2B3	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	EIF2B4	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	EIF2B5	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	EPRS	BIALLELIC, autosomal or pseudoautosomal	N/A	new-gene-name
Green	GALC	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	GBE1	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	GFAP	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	GJA1	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	N/A	N/A
Green	GJB1	X-LINKED: hemizygous mutation in males, biallelic mutations in females	N/A	N/A
Green	GJC2	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	GLA	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	GLB1	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	GSN	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	HEPACAM	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	N/A	N/A
Green	HEXA	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	HMGCL	BIALLELIC, autosomal or pseudoautosomal	N/A	Q4_23_demote_amber, Q4_23_expert_review
Green	HTRA1	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	N/A	N/A
Green	ITM2B	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	L2HGDH	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	LAMB1	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	N/A	N/A
Green	LARS2	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	LIG3	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	LMNB1	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	MARS	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	new-gene-name, Q4_21_rating, to_be_confirmed_NHSE, Q4_21_expert_review, Q4_21_phenotype
Green	MCOLN1	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	MTHFR	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	NOTCH3	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	OCRL	X-LINKED: hemizygous mutation in males, biallelic mutations in females	N/A	Q4_23_demote_amber, Q4_23_expert_review
Green	PAH	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	PEX1	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	PEX10	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	PEX11B	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	PEX12	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	PEX13	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	PEX14	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	PEX16	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	PEX19	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	PEX2	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	PEX26	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	PEX3	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	PEX5	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	PEX6	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	N/A	N/A
Green	PEX7	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	PLP1	X-LINKED: hemizygous mutation in males, biallelic mutations in females	N/A	N/A
Green	POLR1C	BIALLELIC, autosomal or pseudoautosomal	N/A	Q4_21_rating, to_be_confirmed_NHSE, Q4_21_expert_review
Green	POLR3A	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	POLR3B	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	PRNP	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	PSAP	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	PSEN1	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	PTEN	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	RNASEH2A	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	RNASEH2B	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	RNASEH2C	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	RNASET2	BIALLELIC, autosomal or pseudoautosomal	N/A	Q4_21_rating, to_be_confirmed_NHSE, Q4_21_expert_review
Green	RNF216	BIALLELIC, autosomal or pseudoautosomal	N/A	Q3_23_demote_amber
Green	RPS6KA3	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	N/A	Q3_23_demote_red
Green	SAMHD1	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	SNORD118	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	SPG11	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	SPG21	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	TREM2	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	TREX1	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	N/A	N/A
Green	TTR	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	TUBB4A	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	TYMP	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	TYROBP	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	ZFYVE26	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A

Adult onset leukodystrophy (Version: 3.233.02.01.251.6)

Adult onset leukodystrophy (Version: )