Genomics England

Genes and Entities

Common craniosynostosis syndromes (Version: )

Relevant disorders: R99

Signed off date: 13 Feb 2020

Panel types: GMS Rare Disease, GMS signed-off

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7 green entities

Entity rating	Entity	Mode of inheritance	Mode of pathogenicity	Tags
Green	EFNB1	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	Other	N/A
Green	ERF	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	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, imprinted status unknown	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	TWIST1	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A