Genomics England

Genes and Entities

Holoprosencephaly - NOT chromosomal (Version: )

Relevant disorders: Rhombencephalosynapsis, Holoprosencephaly, R85

Signed off date: 4 Oct 2024

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

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16 green entities

Entity rating	Entity	Mode of inheritance	Mode of pathogenicity	Tags
Green	CDON	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	CNOT1	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Other	N/A
Green	DHCR7	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	FGF8	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	FGFR1	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	GLI2	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	ISCA-46743-Loss Xq25 region (includes STAG2) Loss region	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	KMT2D	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	PTCH1	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	RAD21	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	SHH	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	SIX3	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	SMC1A	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	STAG2	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	TGIF1	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	ZIC2	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A