Genomics England

Genes and Entities

Segmental overgrowth disorders - Deep sequencing (Version: )

Relevant disorders: Regional overgrowth disorders, Segmental overgrowth disorders, R110

Signed off date: 13 Mar 2025

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

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14 green entities

Entity rating	Entity	Mode of inheritance	Mode of pathogenicity	Tags
Green	AKT1	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	mosaicism
Green	AKT2	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Loss-of-function variants DO NOT cause this phenotype	recurrent-variant
Green	AKT3	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	mosaicism
Green	ARAF	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	gene-checked
Green	CCND2	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	CDKN1C	MONOALLELIC, autosomal or pseudoautosomal, paternally imprinted (maternal allele expressed)	N/A	N/A
Green	GJA4	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Loss-of-function variants DO NOT cause this phenotype	gene-checked, recurrent-variant
Green	PADI6	MONOALLELIC, autosomal or pseudoautosomal, paternally imprinted (maternal allele expressed)	N/A	N/A
Green	PIK3CA	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	mosaicism
Green	PIK3R1	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Loss-of-function variants DO NOT cause this phenotype	N/A
Green	PIK3R2	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	PTEN	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	RASA1	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	SUZ12	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A