Genomics England

White matter disorders and cerebral calcification - narrow panel (Version: )

This panel is a component of a whole genome sequencing super panel and is only requestable via the superpanel.

Signed off date: 30 Oct 2024

Panel types: GMS Rare Disease, Component Of Super Panel, GMS signed-off

188 green entities

Entity rating	Entity	Mode of inheritance	Mode of pathogenicity	Tags
Green	AARS	BIALLELIC, autosomal or pseudoautosomal	N/A	new-gene-name
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	ABHD16A	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	ACBD5	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	ACER3	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	ACOX1	BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal	N/A	N/A
Green	ACP5	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	ADAR	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	N/A	N/A
Green	AIFM1	X-LINKED: hemizygous mutation in males, biallelic mutations in females	N/A	N/A
Green	AIMP1	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	ALDH3A2	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	AP1S2	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	AP4B1	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	APOPT1	BIALLELIC, autosomal or pseudoautosomal	N/A	new-gene-name
Green	ARSA	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	ASPA	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	AUH	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	BCAP31	X-LINKED: hemizygous mutation in males, biallelic mutations in females	N/A	N/A
Green	BCS1L	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	BLOC1S1	BIALLELIC, autosomal or pseudoautosomal	N/A	gene-checked
Green	BOLA3	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	C2orf69	BIALLELIC, autosomal or pseudoautosomal	N/A	gene-checked
Green	CIC	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	CLCN2	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	CLDN11	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	CLDN5	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	gene-checked
Green	CLPP	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	CNTNAP1	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	COA7	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	COL4A1	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	COLGALT1	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	COQ2	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	COQ8A	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	COX10	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	COX15	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	CSF1R	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	N/A	N/A
Green	CTC1	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	CYP27A1	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	CYP2U1	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	CYP7B1	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	D2HGDH	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	DCAF17	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	DDB2	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	DEGS1	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	DGUOK	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	DPYD	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	EARS2	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	ELOVL1	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	missense
Green	ENTPD1	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	EPRS	BIALLELIC, autosomal or pseudoautosomal	N/A	new-gene-name
Green	ERCC6	BIALLELIC, autosomal or pseudoautosomal	Other	N/A
Green	ERCC8	BIALLELIC, autosomal or pseudoautosomal	Other	N/A
Green	ESAM	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	ETFDH	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	FA2H	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	FAM126A	BIALLELIC, autosomal or pseudoautosomal	N/A	new-gene-name
Green	FARSA	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	FIG4	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	FLVCR2	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	FOLR1	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	FUCA1	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
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	Other	N/A
Green	GFM1	BIALLELIC, autosomal or pseudoautosomal	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, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	N/A	N/A
Green	GJC2	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	GLB1	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	GLRX5	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	HEPACAM	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	N/A	N/A
Green	HIKESHI	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	HMBS	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	HSD17B4	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	HSPD1	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	N/A	N/A
Green	IBA57	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	IFIH1	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	ISCA1	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	ISCA2	BIALLELIC, autosomal or pseudoautosomal	N/A	founder-effect
Green	JAM3	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	KIAA1161	BIALLELIC, autosomal or pseudoautosomal	N/A	gene-checked, new-gene-name
Green	KIF5A	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	L2HGDH	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	LAMB1	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	Other	N/A
Green	LYRM7	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	MCOLN1	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	MEF2C	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	MLC1	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	MTFMT	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	NAA60	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	NAXD	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	NAXE	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	NDUFAF1	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	NDUFAF3	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	NDUFS1	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	NDUFS2	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	NDUFS4	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	NDUFS7	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	NDUFS8	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	NDUFV1	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	NFU1	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	NKX6-2	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	NUBPL	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	NUP188	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	OCLN	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	PAFAH1B1	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	PDGFB	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	PDGFRB	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	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	PEX12	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	PEX13	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	PEX16	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	PI4KA	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	PNPT1	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	POLG	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	POLG2	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	N/A	N/A
Green	POLR1C	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	POLR3A	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	POLR3B	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	PPFIBP1	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	PSAP	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	PTEN	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	PYCR2	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	RAB11B	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	RARS	BIALLELIC, autosomal or pseudoautosomal	N/A	new-gene-name
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	N/A
Green	RNF220	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	RNU7-1	BIALLELIC, autosomal or pseudoautosomal	N/A	locus-type-rna-small-nuclear, gene-checked
Green	RPIA	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	RRM2B	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	SAMHD1	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	SCAF4	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	SCO1	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	SCO2	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	SCP2	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	SDHA	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	SDHAF1	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	SDHB	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	SLC16A2	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	SLC17A5	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	SLC20A2	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	SLC25A12	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	SLC25A4	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	N/A	N/A
Green	SNORD118	BIALLELIC, autosomal or pseudoautosomal	Other	locus-type-small-nucleolar
Green	SOX10	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	SPART	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	SPG11	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	STN1	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	SUCLA2	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	SUMF1	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	SURF1	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	TACO1	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	TMEM106B	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	missense
Green	TMEM63A	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	gene-checked
Green	TREM2	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	TREX1	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	N/A	N/A
Green	TUBB4A	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	TUFM	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	TWNK	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	N/A	N/A
Green	TYMP	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	UFM1	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	USP18	BIALLELIC, autosomal or pseudoautosomal	N/A	treatable
Green	VPS11	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	WARS2	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	XPA	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	XPC	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	XPR1	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	ZFYVE26	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A

White matter disorders and cerebral calcification - narrow panel (Version: 6.05.04.03.02.01.12)

White matter disorders and cerebral calcification - narrow panel (Version: )