Genomics England

Rare syndromic craniosynostosis or isolated multisuture synostosis (Version: )

Relevant disorders: Craniosynostosis syndromes, Craniosynostosis syndromes phenotypes, Rare syndromic craniosynostosis or isolated multisuture synostosis, Craniosynostosis, R100

Signed off date: 1 May 2024

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

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82 green entities

Entity rating	Entity	Mode of inheritance	Mode of pathogenicity	Tags
Green	ACTB	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	missense
Green	ACTG1	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	missense
Green	ADAMTSL4	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	AHDC1	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	ALPL	BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal	N/A	N/A
Green	ALX4	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	N/A	N/A
Green	ARID1B	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	ARSB	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	ASXL1	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	B3GAT3	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	BCL11B	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	BRAF	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	CDC45	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	CDK13	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	CHD7	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	COLEC11	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	CTSK	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	CYP26B1	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	EFNB1	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	Other	x-linked-over-dominance
Green	ERF	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	FAM20C	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	FBN1	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	FBXO11	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	FGF9	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	FGFR1	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Loss-of-function variants DO NOT cause this phenotype	N/A
Green	FGFR2	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Loss-of-function variants DO NOT cause this phenotype	N/A
Green	FGFR3	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Loss-of-function variants DO NOT cause this phenotype	N/A
Green	FLNA	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	Loss-of-function variants DO NOT cause this phenotype	N/A
Green	GLI3	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	GNAS	MONOALLELIC, autosomal or pseudoautosomal, maternally imprinted (paternal allele expressed)	N/A	N/A
Green	GNPTAB	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	HNRNPK	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	HUWE1	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	IDS	X-LINKED: hemizygous mutation in males, biallelic mutations in females	N/A	N/A
Green	IDUA	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	IFT122	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	IFT140	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	IHH	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Loss-of-function variants DO NOT cause this phenotype	N/A
Green	IL11RA	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	IL6ST	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	ISCA-37441-Loss 11p11.2 (Potocki-Shaffer syndrome) region (includes ALX4, EXT2) Loss region	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	JAG1	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	KAT6A	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	KAT6B	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	KMT2D	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	KRAS	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Loss-of-function variants DO NOT cause this phenotype	N/A
Green	LTBP1	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	MAN2B1	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	MEGF8	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	MSX2	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Loss-of-function variants DO NOT cause this phenotype	N/A
Green	NFIA	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	NFIX	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	P4HB	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	PHEX	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	POR	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	PRRX1	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	PTCH1	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	PTPN11	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	RAB23	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	RECQL4	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	RSPRY1	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	RUNX2	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Loss-of-function variants DO NOT cause this phenotype	gene-duplication
Green	SIX1	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	SKI	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Loss-of-function variants DO NOT cause this phenotype	N/A
Green	SLC25A24	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	SMAD6	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	polygenic, curated-variant-list
Green	SMO	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Other	somatic, mosaicism
Green	SOX6	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	SPECC1L	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	STAT3	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Loss-of-function variants DO NOT cause this phenotype	N/A
Green	TCF12	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	TFAP2B	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	TGFBR1	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Loss-of-function variants DO NOT cause this phenotype	N/A
Green	TGFBR2	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Loss-of-function variants DO NOT cause this phenotype	N/A
Green	TLK2	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	TMCO1	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	TRAF7	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	TWIST1	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	WDR35	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	ZEB2	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	ZIC1	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Loss-of-function variants DO NOT cause this phenotype	N/A
Green	ZNF462	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A

Rare syndromic craniosynostosis or isolated multisuture synostosis (Version: 5.04.03.02.2)

Rare syndromic craniosynostosis or isolated multisuture synostosis (Version: )